#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC2A7	155184	broad.mit.edu	37	1	9075206	9075206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:9075206G>A	ENST00000400906.1	-	6	684	c.685C>T	c.(685-687)Cag>Tag	p.Q229*		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	229					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.Q229*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCTCCTTTCTGAATCAGGGAG	0.672																																						uc009vmo.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(685-687)CAG>TAG		intestinal facilitative glucose transporter 7							30.0	35.0	34.0					1																	9075206		2201	4300	6501	SO:0001587	stop_gained	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9075206G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.685C>T	1.37:g.9075206G>A	ENSP00000383698:p.Gln229*						p.Q229*	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	6	685	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	229			Cytoplasmic (Potential).		A2A333	Nonsense_Mutation	SNP	ENST00000400906.1	37	c.685C>T	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637851	0.87760	.	.	ENSG00000197241	ENST00000400906	.	.	.	4.32	2.34	0.29019	.	0.135077	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.0011	0.58676	0.0:0.3235:0.6765:0.0	.	.	.	.	X	229	.	ENSP00000383698:Q229X	Q	-	1	0	SLC2A7	8997793	1.000000	0.71417	0.168000	0.22838	0.726000	0.41606	3.377000	0.52425	0.392000	0.25172	0.491000	0.48974	CAG		PASS	0.672	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		12	17	12	17	---	---	---	---
PEX14	5195	broad.mit.edu	37	1	10689653	10689653	+	Missense_Mutation	SNP	C	C	A	rs553512429		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:10689653C>A	ENST00000356607.4	+	9	823	c.743C>A	c.(742-744)cCg>cAg	p.P248Q	PEX14_ENST00000538836.1_Missense_Mutation_p.P184Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	248					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)	p.P248Q(1)		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)		GTCAAGTCACCGTCACCCTCC	0.642																																						uc001arn.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(742-744)CCG>CAG		peroxisomal biogenesis factor 14							105.0	85.0	92.0					1																	10689653		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.chr1:10689653C>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.743C>A	1.37:g.10689653C>A	ENSP00000349016:p.Pro248Gln					PEX14_uc009vmv.2_Missense_Mutation_p.P184Q|PEX14_uc010oam.1_Missense_Mutation_p.P184Q|PEX14_uc010oan.1_Missense_Mutation_p.P205Q|PEX14_uc009vmw.2_Missense_Mutation_p.P184Q	p.P248Q	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)	9	764	+	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)	248					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.743C>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012917	0.35511	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.29142	1.58;1.58	4.7	3.78	0.43462	.	0.639550	0.16211	N	0.224461	T	0.24236	0.0587	L	0.40543	1.245	0.09310	N	1	B;P	0.34780	0.268;0.468	B;B	0.36989	0.224;0.238	T	0.12656	-1.0539	10	0.14252	T	0.57	.	9.8253	0.40908	0.0:0.7688:0.1502:0.081	.	205;248	O75381-2;O75381	.;PEX14_HUMAN	Q	248;184	ENSP00000349016:P248Q;ENSP00000444877:P184Q	ENSP00000349016:P248Q	P	+	2	0	PEX14	10612240	0.070000	0.21116	0.005000	0.12908	0.966000	0.64601	3.437000	0.52863	1.100000	0.41517	0.563000	0.77884	CCG		PASS	0.642	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			25	45	25	45	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12169625	12169625	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:12169625A>C	ENST00000263932.2	+	5	646	c.424A>C	c.(424-426)Acg>Ccg	p.T142P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T31P	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	142					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T142P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCCTGCAGGCACGGCGCAGAA	0.627																																						uc001atq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(424-426)ACG>CCG		tumor necrosis factor receptor superfamily,							42.0	43.0	42.0					1																	12169625		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12169625A>C	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.424A>C	1.37:g.12169625A>C	ENSP00000263932:p.Thr142Pro					TNFRSF8_uc010obc.1_Missense_Mutation_p.T31P	p.T142P	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	646	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	142			TNFR-Cys 3.|Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.424A>C	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.195965	0.58126	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;D	0.94931	3.1;-3.56	4.0	2.87	0.33458	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.498092	0.18030	N	0.153955	D	0.95674	0.8593	M	0.66939	2.045	0.28554	N	0.911482	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.976	D	0.89840	0.4002	10	0.87932	D	0	-3.8058	6.1346	0.20225	0.8863:0.0:0.1137:0.0	.	31;142	D3YTD8;P28908	.;TNR8_HUMAN	P	142;31	ENSP00000263932:T142P;ENSP00000390650:T31P	ENSP00000263932:T142P	T	+	1	0	TNFRSF8	12092212	1.000000	0.71417	0.998000	0.56505	0.040000	0.13550	1.884000	0.39668	0.875000	0.35847	0.460000	0.39030	ACG		PASS	0.627	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			14	43	14	43	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21031088	21031088	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:21031088C>T	ENST00000247986.2	-	5	1285	c.975G>A	c.(973-975)acG>acA	p.T325T	KIF17_ENST00000375044.1_Silent_p.T225T|KIF17_ENST00000400463.3_Silent_p.T325T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	325	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.T325T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTAGCGCAGCGTGCTGAGTG	0.607																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(973-975)ACG>ACA		kinesin family member 17 isoform a							172.0	129.0	144.0					1																	21031088		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031088C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.975G>A	1.37:g.21031088C>T						KIF17_uc001bds.3_Silent_p.T325T	p.T325T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1093	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	325					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.975G>A	CCDS213.1																																																																																				PASS	0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		27	71	27	71	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36358709	36358709	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:36358709G>T	ENST00000373204.4	+	4	555	c.342G>T	c.(340-342)gaG>gaT	p.E114D	AGO1_ENST00000373206.1_Missense_Mutation_p.E39D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	114					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E114D(1)									TCGACTTTGAGGTGACAATCC	0.512																																						uc001bzl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(340-342)GAG>GAT		eukaryotic translation initiation factor 2C, 1							81.0	63.0	69.0					1																	36358709		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36358709G>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.342G>T	1.37:g.36358709G>T	ENSP00000362300:p.Glu114Asp					EIF2C1_uc001bzk.2_Missense_Mutation_p.E39D|EIF2C1_uc009vuy.2_5'Flank	p.E114D	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			4	555	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	114					Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.342G>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550595	0.27739	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.10477	2.92;2.87	5.63	5.63	0.86233	Argonaute/Dicer protein, PAZ (1);	0.047456	0.85682	D	0.000000	T	0.07548	0.0190	N	0.05534	-0.03	0.58432	D	0.999996	B	0.06786	0.001	B	0.10450	0.005	T	0.41448	-0.9508	10	0.21540	T	0.41	-13.9902	19.6727	0.95916	0.0:0.0:1.0:0.0	.	114	Q9UL18	AGO1_HUMAN	D	39;114	ENSP00000362302:E39D;ENSP00000362300:E114D	ENSP00000362300:E114D	E	+	3	2	EIF2C1	36131296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.837000	0.62796	2.656000	0.90262	0.591000	0.81541	GAG		PASS	0.512	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			14	23	14	23	---	---	---	---
GNL2	29889	broad.mit.edu	37	1	38034731	38034731	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:38034731C>A	ENST00000373062.3	-	13	1687	c.1589G>T	c.(1588-1590)cGg>cTg	p.R530L	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	530					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R530Q(2)|p.R530L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAAGTTCTGCCGAACTCGTGT	0.468																																						uc001cbk.2																			3	Substitution - Missense(3)		lung(2)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(1588-1590)CGG>CTG		guanine nucleotide binding protein-like 2							155.0	143.0	147.0					1																	38034731		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38034731C>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1589G>T	1.37:g.38034731C>A	ENSP00000362153:p.Arg530Leu						p.R530L	NM_013285	NP_037417	Q13823	NOG2_HUMAN			13	1752	-		Myeloproliferative disorder(586;0.0393)	530					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1589G>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591903	0.66219	.	.	ENSG00000134697	ENST00000373062	T	0.23950	1.88	6.17	6.17	0.99709	.	0.111999	0.64402	D	0.000015	T	0.30230	0.0758	L	0.49350	1.555	0.58432	D	0.999998	P	0.35700	0.516	B	0.36134	0.218	T	0.01140	-1.1439	10	0.31617	T	0.26	-16.642	20.8794	0.99867	0.0:1.0:0.0:0.0	.	530	Q13823	NOG2_HUMAN	L	530	ENSP00000362153:R530L	ENSP00000362153:R530L	R	-	2	0	GNL2	37807318	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	3.218000	0.51192	2.941000	0.99782	0.655000	0.94253	CGG		PASS	0.468	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		32	72	32	72	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39797158	39797158	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:39797158C>T	ENST00000372915.3	+	36	5000	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.S1633F|MACF1_ENST00000567887.1_Missense_Mutation_p.S1670F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S73F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1638					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S73F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCCCTCTTTCTGTGGTGGAA	0.488																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(217-219)TCT>TTT		microfilament and actin filament cross-linker							68.0	73.0	71.0					1																	39797158		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797158C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4913C>T	1.37:g.39797158C>T	ENSP00000362006:p.Ser1638Phe					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.S73F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	349	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1638					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.218C>T		.	.	.	.	.	.	.	.	.	.	C	15.93	2.978852	0.53720	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74106	-0.81;-0.81	5.96	5.05	0.67936	.	0.116434	0.39341	N	0.001388	D	0.82476	0.5045	M	0.86343	2.81	0.80722	D	1	P	0.52842	0.956	P	0.48030	0.564	D	0.86309	0.1685	10	0.66056	D	0.02	.	17.2683	0.87093	0.0:0.8744:0.1256:0.0	.	1638	Q9UPN3	MACF1_HUMAN	F	1638;73	ENSP00000362006:S1638F;ENSP00000289893:S73F	ENSP00000289893:S73F	S	+	2	0	MACF1	39569745	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.001000	0.70685	1.520000	0.48965	0.650000	0.86243	TCT		PASS	0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		37	48	37	48	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112999476	112999476	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:112999476G>A	ENST00000271277.6	+	6	1587	c.1362G>A	c.(1360-1362)ggG>ggA	p.G454G	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	454					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.G454G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAAGTAGGGATCAACCAAC	0.527																																						uc001ebx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1360-1362)GGG>GGA		CTTNBP2 N-terminal like							163.0	168.0	166.0					1																	112999476		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112999476G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1362G>A	1.37:g.112999476G>A						CTTNBP2NL_uc001ebz.2_RNA	p.G454G	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1590	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	454					B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.1362G>A	CCDS845.1																																																																																				PASS	0.527	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		72	117	72	117	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116933482	116933482	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:116933482A>G	ENST00000295598.5	+	10	1553	c.1301A>G	c.(1300-1302)cAg>cGg	p.Q434R	ATP1A1_ENST00000537345.1_Missense_Mutation_p.Q434R|ATP1A1_ENST00000369496.4_Missense_Mutation_p.Q403R	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	434					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.Q434R(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GCAGTGTTTCAGGCTAACCAG	0.438																																						uc001ege.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1300-1302)CAG>CGG		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						162.0	152.0	155.0					1																	116933482		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116933482A>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1301A>G	1.37:g.116933482A>G	ENSP00000295598:p.Gln434Arg					ATP1A1_uc010owv.1_Missense_Mutation_p.Q403R|ATP1A1_uc010oww.1_Missense_Mutation_p.Q434R|ATP1A1_uc010owx.1_Missense_Mutation_p.Q403R	p.Q434R	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	10	1640	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	434			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.1301A>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754536	0.49362	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.95788	-3.81;-3.81;-3.81	4.8	4.8	0.61643	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.201467	0.47093	D	0.000260	T	0.82102	0.4964	N	0.03177	-0.4	0.48511	D	0.99966	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.78285	-0.2263	10	0.33141	T	0.24	.	14.7904	0.69837	1.0:0.0:0.0:0.0	.	434;434	F5H3A1;P05023	.;AT1A1_HUMAN	R	434;434;433;403	ENSP00000295598:Q434R;ENSP00000445306:Q434R;ENSP00000358508:Q403R	ENSP00000295598:Q434R	Q	+	2	0	ATP1A1	116735005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.276000	0.58933	2.153000	0.67306	0.519000	0.50382	CAG		PASS	0.438	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		3	125	3	125	---	---	---	---
HMGCS2	3158	broad.mit.edu	37	1	120302554	120302554	+	Silent	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:120302554A>G	ENST00000369406.3	-	3	667	c.618T>C	c.(616-618)cgT>cgC	p.R206R	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	206					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R206R(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CACCTGTGGGACGAGCATTAC	0.517																																						uc001eid.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(616-618)CGT>CGC		hydroxymethylglutaryl-CoA synthase 2 isoform 1							59.0	57.0	58.0					1																	120302554		2203	4300	6503	SO:0001819	synonymous_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302554A>G	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.618T>C	1.37:g.120302554A>G						HMGCS2_uc010oxj.1_Intron|HMGCS2_uc001eie.2_Silent_p.R114R	p.R206R	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	669	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	206					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	c.618T>C	CCDS905.1																																																																																				PASS	0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		25	38	25	38	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144873951	144873951	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:144873951G>T	ENST00000369354.3	-	31	5195	c.5006C>A	c.(5005-5007)gCc>gAc	p.A1669D	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A1669D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A1625D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A1805D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1669					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A1669D(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGGATTCGGCCTTAGCCCC	0.498			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5005-5007)GCC>GAC		phosphodiesterase 4D interacting protein isoform							424.0	424.0	424.0					1																	144873951		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873951G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5006C>A	1.37:g.144873951G>T	ENSP00000358360:p.Ala1669Asp					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1625D|PDE4DIP_uc001elv.3_Missense_Mutation_p.A676D	p.A1669D	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	31	5297	-			1669					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5006C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771765	0.49680	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01767	4.65;4.79;4.79;4.79	5.27	2.01	0.26516	.	.	.	.	.	T	0.01061	0.0035	L	0.47716	1.5	0.80722	D	1	P;P	0.44429	0.835;0.501	P;B	0.45232	0.474;0.143	T	0.67405	-0.5679	9	0.36615	T	0.2	.	7.553	0.27808	0.0:0.3387:0.4769:0.1843	.	1625;1669	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	D	1625;1669;1669;1805	ENSP00000327209:A1625D;ENSP00000358360:A1669D;ENSP00000358363:A1669D;ENSP00000358366:A1805D	ENSP00000327209:A1625D	A	-	2	0	PDE4DIP	143585308	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.641000	0.24720	0.728000	0.32382	0.650000	0.86243	GCC		PASS	0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		133	480	133	480	---	---	---	---
FCGR1A	2209	broad.mit.edu	37	1	149763061	149763061	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:149763061G>A	ENST00000369168.4	+	6	1167	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	371					antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)	p.Q371Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAGCCCCAGGGGGCCACGT	0.547																																						uc001esp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1111-1113)CAG>CAA		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						12.0	13.0	13.0					1																	149763061		1778	3672	5450	SO:0001819	synonymous_variant	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149763061G>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.1113G>A	1.37:g.149763061G>A						HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	p.Q371Q	NM_000566	NP_000557	P12314	FCGR1_HUMAN			6	1163	+	Breast(34;0.0124)|all_hematologic(923;0.127)		371			Cytoplasmic (Potential).		P12315|Q5QNW7|Q92495|Q92663	Silent	SNP	ENST00000369168.4	37	c.1113G>A	CCDS933.1																																																																																				PASS	0.547	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		6	26	6	26	---	---	---	---
RORC	6097	broad.mit.edu	37	1	151787643	151787643	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:151787643T>A	ENST00000318247.6	-	5	664	c.557A>T	c.(556-558)tAt>tTt	p.Y186F	RORC_ENST00000392697.3_Missense_Mutation_p.Y240F|RORC_ENST00000356728.6_Missense_Mutation_p.Y165F|RORC_ENST00000480719.1_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	186	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Y186F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTGTTGGAATATGAGGGCCC	0.632																																						uc001ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(556-558)TAT>TTT		RAR-related orphan receptor C isoform a							31.0	31.0	31.0					1																	151787643		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787643T>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.557A>T	1.37:g.151787643T>A	ENSP00000327025:p.Tyr186Phe					RORC_uc001ezg.2_Missense_Mutation_p.Y165F|RORC_uc010pdo.1_Missense_Mutation_p.Y240F|RORC_uc010pdp.1_Missense_Mutation_p.Y186F	p.Y186F	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	665	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		186			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.557A>T	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	T	7.331	0.619007	0.14129	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94613	-3.43;-3.47;-3.45	4.58	-0.792	0.10925	.	0.848448	0.09492	U	0.794854	D	0.83376	0.5241	L	0.53249	1.67	0.09310	N	1	B;P;B;B	0.39391	0.001;0.671;0.005;0.266	B;B;B;B	0.36030	0.007;0.154;0.032;0.216	T	0.76168	-0.3058	10	0.72032	D	0.01	.	2.7333	0.05233	0.3241:0.1871:0.0:0.4888	.	186;240;186;165	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	F	165;240;186	ENSP00000349164:Y165F;ENSP00000376461:Y240F;ENSP00000327025:Y186F	ENSP00000327025:Y186F	Y	-	2	0	RORC	150054267	0.009000	0.17119	0.001000	0.08648	0.558000	0.35554	0.482000	0.22276	-0.238000	0.09724	-0.400000	0.06385	TAT		PASS	0.632	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			13	18	13	18	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155899625	155899625	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:155899625C>A	ENST00000368321.3	-	3	285	c.262G>T	c.(262-264)Gct>Tct	p.A88S	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A88S|KIAA0907_ENST00000368320.3_Missense_Mutation_p.A88S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	88							RNA binding (GO:0003723)	p.A88S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTGCCAGGAGCCTGAAGCTAG	0.308																																						uc001fmi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)GCT>TCT		hypothetical protein LOC22889							110.0	99.0	103.0					1																	155899625		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899625C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.262G>T	1.37:g.155899625C>A	ENSP00000357304:p.Ala88Ser					KIAA0907_uc001fmj.1_Missense_Mutation_p.A88S|KIAA0907_uc009wrk.1_Missense_Mutation_p.A88S|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.A88S|KIAA0907_uc001fmm.2_Missense_Mutation_p.A88S|KIAA0907_uc001fmo.2_Missense_Mutation_p.A88S	p.A88S	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	286	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		88					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.262G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	6.218	0.408289	0.11754	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	4.88	0.93	0.19454	.	0.458519	0.25419	N	0.030815	T	0.07638	0.0192	N	0.16602	0.42	0.27448	N	0.953511	B;B;B;B;B;B	0.18013	0.025;0.009;0.025;0.012;0.025;0.025	B;B;B;B;B;B	0.19666	0.015;0.007;0.01;0.009;0.017;0.026	T	0.41324	-0.9515	9	0.09084	T	0.74	-0.1164	9.57	0.39422	0.0:0.7086:0.0:0.2914	.	88;88;88;88;88;88	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	S	88	.	ENSP00000357302:A88S	A	-	1	0	KIAA0907	154166249	1.000000	0.71417	0.972000	0.41901	0.573000	0.36030	1.249000	0.32839	0.089000	0.17243	-0.379000	0.06801	GCT		PASS	0.308	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		12	25	12	25	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159901605	159901605	+	Silent	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:159901605G>C	ENST00000368094.1	-	11	1556	c.1359C>G	c.(1357-1359)acC>acG	p.T453T	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.T437T	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	453	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T437T(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTTACCTTGGTCCAAGAGA	0.607																																						uc001fur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(1357-1359)ACC>ACG		immunoglobulin superfamily, member 9 isoform a							48.0	53.0	51.0					1																	159901605		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159901605G>C	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1359C>G	1.37:g.159901605G>C						IGSF9_uc001fuq.2_Silent_p.T437T|IGSF9_uc001fup.2_5'UTR	p.T453T	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1557	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	453			Ig-like 5.|Extracellular (Potential).			Silent	SNP	ENST00000368094.1	37	c.1359C>G	CCDS44254.1																																																																																				PASS	0.607	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		12	22	12	22	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165723478	165723478	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:165723478C>A	ENST00000392129.6	-	4	392	c.242G>T	c.(241-243)aGa>aTa	p.R81I	TMCO1_ENST00000367881.5_Missense_Mutation_p.R132I|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	81						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R81I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGATAGATCTCTGTTGTTATT	0.338																																						uc001gdj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(241-243)AGA>ATA		transmembrane and coiled-coil domains 1							293.0	272.0	279.0					1																	165723478		2202	4300	6502	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165723478C>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.242G>T	1.37:g.165723478C>A	ENSP00000375975:p.Arg81Ile					TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Missense_Mutation_p.R69I|TMCO1_uc001gdn.3_RNA	p.R81I	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			4	391	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		81			Potential.		B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.242G>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.648790	0.87958	.	.	ENSG00000143183	ENST00000367881	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84442	0.5473	M	0.92169	3.28	0.51482	D	0.999927	D;D	0.67145	0.993;0.996	D;D	0.75020	0.972;0.985	D	0.87059	0.2152	8	0.72032	D	0.01	.	17.8686	0.88804	0.0:1.0:0.0:0.0	.	69;81	B7Z591;Q9UM00	.;TMCO1_HUMAN	I	81	.	ENSP00000356856:R81I	R	-	2	0	TMCO1	163990102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.346000	0.65992	2.817000	0.96982	0.563000	0.77884	AGA		PASS	0.338	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		25	43	25	43	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171236736	171236736	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:171236736T>A	ENST00000354841.4	+	2	318	c.187T>A	c.(187-189)Tgc>Agc	p.C63S	FMO1_ENST00000367750.3_Missense_Mutation_p.C63S|FMO1_ENST00000402921.2_Intron|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	63					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.C63S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTCCAACAGCTGCAAGGAGAT	0.403																																						uc009wvz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(187-189)TGC>AGC		flavin containing monooxygenase 1							172.0	151.0	158.0					1																	171236736		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171236736T>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.187T>A	1.37:g.171236736T>A	ENSP00000346901:p.Cys63Ser					FMO1_uc010pme.1_Intron|FMO1_uc001ghl.2_Missense_Mutation_p.C63S|FMO1_uc001ghm.2_Missense_Mutation_p.C63S|FMO1_uc001ghn.2_Missense_Mutation_p.C63S	p.C63S	NM_002021	NP_002012	Q01740	FMO1_HUMAN			3	323	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		63					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.187T>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	T	3.643	-0.073206	0.07184	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000354841	T;T;T	0.46063	0.88;0.88;0.88	5.38	2.73	0.32206	.	0.270733	0.44097	N	0.000497	T	0.02767	0.0083	N	0.00254	-1.765	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.15870	0.014;0.005	T	0.46803	-0.9165	10	0.02654	T	1	-9.383	10.0515	0.42219	0.4208:0.0:0.0:0.5792	.	63;63	B2RCG5;Q01740	.;FMO1_HUMAN	S	63	ENSP00000356724:C63S;ENSP00000406982:C63S;ENSP00000346901:C63S	ENSP00000346901:C63S	C	+	1	0	FMO1	169503360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.945000	0.56637	0.834000	0.34852	0.533000	0.62120	TGC		PASS	0.403	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		37	67	37	67	---	---	---	---
RALGPS2	55103	broad.mit.edu	37	1	178848052	178848052	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:178848052C>G	ENST00000367635.3	+	10	1099	c.761C>G	c.(760-762)cCt>cGt	p.P254R	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P254R|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	254	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P254R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCCATGTTGCCTCATGTCCAA	0.303																																						uc001glz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)CCT>CGT		Ral GEF with PH domain and SH3 binding motif 2							94.0	93.0	93.0					1																	178848052		2202	4298	6500	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178848052C>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.761C>G	1.37:g.178848052C>G	ENSP00000356607:p.Pro254Arg					RALGPS2_uc001gly.1_Missense_Mutation_p.P254R|RALGPS2_uc010pnb.1_Missense_Mutation_p.P254R	p.P254R	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			10	1099	+			254			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.761C>G	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463725	0.84425	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.32753	1.44;1.44;1.44	5.45	5.45	0.79879	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.89715	3.055	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.57244	0.816;0.816	T	0.68934	-0.5278	10	0.72032	D	0.01	.	19.2348	0.93855	0.0:1.0:0.0:0.0	.	254;254	B7Z7B1;Q86X27	.;RGPS2_HUMAN	R	254;254;219	ENSP00000356607:P254R;ENSP00000356606:P254R;ENSP00000313613:P219R	ENSP00000313613:P219R	P	+	2	0	RALGPS2	177114675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.959000	0.70339	2.721000	0.93114	0.585000	0.79938	CCT		PASS	0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		8	19	8	19	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						uc001gpy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(1921-1923)CCT>CCC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	127.0	125.0					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293	NP_002284	P11047	LAMC1_HUMAN			11	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				PASS	0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	150	3	150	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183204743	183204743	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:183204743G>A	ENST00000264144.4	+	16	2399	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	LAMC2_ENST00000493293.1_Silent_p.L778L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	778	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.L778L(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGGAGCAACTGACAAGGGAAA	0.498											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gqa.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2332-2334)CTG>CTA		laminin, gamma 2 isoform a precursor							112.0	97.0	102.0					1																	183204743		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183204743G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2334G>A	1.37:g.183204743G>A			OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1982	LAMC2_uc001gpz.3_Silent_p.L778L|LAMC2_uc010poa.1_Silent_p.L478L	p.L778L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			16	2648	+			778			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.2334G>A	CCDS1352.1																																																																																				PASS	0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		15	24	15	24	---	---	---	---
ADIPOR1	51094	broad.mit.edu	37	1	202911228	202911228	+	Silent	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:202911228C>A	ENST00000340990.5	-	7	1222	c.924G>T	c.(922-924)gtG>gtT	p.V308V	ADIPOR1_ENST00000436244.1_Silent_p.V308V	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	308					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)	p.V308V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATGTACATCACAGCCATGA	0.512																																						uc001gyq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(922-924)GTG>GTT		adiponectin receptor 1							83.0	80.0	81.0					1																	202911228		2203	4300	6503	SO:0001819	synonymous_variant	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202911228C>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.924G>T	1.37:g.202911228C>A						ADIPOR1_uc010pqd.1_Silent_p.V232V|ADIPOR1_uc001gyr.3_Silent_p.V107V|ADIPOR1_uc001gys.3_Silent_p.V308V	p.V308V	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		7	1191	-			308			Helical; Name=6; (Potential).		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	c.924G>T	CCDS1430.1																																																																																				PASS	0.512	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		35	120	35	120	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207646198	207646198	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:207646198C>T	ENST00000367058.3	+	10	1841	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	CR2_ENST00000367057.3_Missense_Mutation_p.T551M|CR2_ENST00000458541.2_Silent_p.H525H|CR2_ENST00000367059.3_Missense_Mutation_p.T551M	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	551	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T551M(2)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TATGGAACCACGGTCACTTAC	0.478																																						uc001hfw.2																			2	Substitution - Missense(2)		lung(1)|pancreas(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1651-1653)ACG>ATG		complement component (3d/Epstein Barr virus)							80.0	77.0	78.0					1																	207646198		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646198C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1652C>T	1.37:g.207646198C>T	ENSP00000356025:p.Thr551Met					CR2_uc001hfv.2_Missense_Mutation_p.T551M|CR2_uc009xch.2_Missense_Mutation_p.T551M|CR2_uc009xci.1_Missense_Mutation_p.T36M	p.T551M	NM_001877	NP_001868	P20023	CR2_HUMAN			10	1746	+			551			Sushi 9.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1652C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457194	0.12342	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059	T;T;T	0.66099	-0.19;-0.19;-0.19	5.75	0.0969	0.14492	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52693	0.1750	M	0.62154	1.92	0.09310	N	1	P;B;P;P	0.48230	0.766;0.253;0.907;0.538	B;B;B;B	0.41374	0.148;0.105;0.355;0.091	T	0.46555	-0.9183	9	0.49607	T	0.09	.	3.7781	0.08669	0.1966:0.4292:0.0:0.3742	.	551;551;551;551	C9JHD2;Q5SR47;P20023;P20023-3	.;.;CR2_HUMAN;.	M	551	ENSP00000356025:T551M;ENSP00000356024:T551M;ENSP00000356026:T551M	ENSP00000356024:T551M	T	+	2	0	CR2	205712821	0.000000	0.05858	0.008000	0.14137	0.244000	0.25665	-0.040000	0.12104	0.085000	0.17107	-0.126000	0.14955	ACG		PASS	0.478	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		50	40	50	40	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216062176	216062176	+	Silent	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:216062176T>C	ENST00000307340.3	-	41	8201	c.7815A>G	c.(7813-7815)tcA>tcG	p.S2605S	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.S2605S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2605	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2605S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACATCCTTTTGAAGTGCAGG	0.483										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7813-7815)TCA>TCG		usherin isoform B							107.0	103.0	105.0					1																	216062176		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062176T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7815A>G	1.37:g.216062176T>C		HNSCC(13;0.011)					p.S2605S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8202	-			2605			Fibronectin type-III 12.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7815A>G	CCDS31025.1																																																																																				PASS	0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		45	35	45	35	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222801365	222801365	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:222801365A>G	ENST00000344922.5	+	4	828	c.803A>G	c.(802-804)aAa>aGa	p.K268R	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.K268R|MIA3_ENST00000344507.1_Missense_Mutation_p.K268R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	268					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K268R(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAACTTTTGAAAAAAGAAATG	0.353																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(802-804)AAA>AGA		melanoma inhibitory activity family, member 3							62.0	59.0	60.0					1																	222801365		1840	4080	5920	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801365A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.803A>G	1.37:g.222801365A>G	ENSP00000340900:p.Lys268Arg					MIA3_uc009xea.1_Missense_Mutation_p.K104R	p.K268R	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	812	+			268			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.803A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964958	0.34659	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.49432	0.78;0.78;0.78	5.19	4.03	0.46877	.	.	.	.	.	T	0.45094	0.1325	M	0.71581	2.175	0.09310	N	0.999998	P;B	0.46512	0.879;0.128	B;B	0.41271	0.352;0.045	T	0.33292	-0.9874	9	0.33141	T	0.24	.	7.5445	0.27759	0.7822:0.1433:0.0745:0.0	.	268;268	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	R	268	ENSP00000340900:K268R;ENSP00000340587:K268R;ENSP00000341348:K268R	ENSP00000325973:K268R	K	+	2	0	MIA3	220867988	1.000000	0.71417	0.038000	0.18304	0.990000	0.78478	6.572000	0.74005	0.874000	0.35823	0.377000	0.23210	AAA		PASS	0.353	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		22	80	22	80	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222835656	222835656	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:222835656G>A	ENST00000344922.5	+	26	5269	c.5244G>A	c.(5242-5244)agG>agA	p.R1748R	MIA3_ENST00000340535.7_Silent_p.R626R|MIA3_ENST00000344441.6_Silent_p.R1748R|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1748	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1748R(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCCCTACCAGGGTACTCGATG	0.428																																						uc001hnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(5242-5244)AGG>AGA		melanoma inhibitory activity family, member 3							165.0	159.0	161.0					1																	222835656		1895	4111	6006	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835656G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5244G>A	1.37:g.222835656G>A						MIA3_uc001hnm.2_Silent_p.R626R	p.R1748R	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5253	+			1748			Pro-rich.|Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5244G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	3.800	-0.041796	0.07452	.	.	ENSG00000154305	ENST00000450260	.	.	.	5.77	3.45	0.39498	.	.	.	.	.	T	0.24509	0.0594	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	T	0.16188	-1.0411	4	.	.	.	.	2.6382	0.04964	0.2998:0.0:0.4839:0.2163	.	.	.	.	S	33	.	.	G	+	1	0	MIA3	220902279	0.030000	0.19436	0.026000	0.17262	0.004000	0.04260	0.584000	0.23864	1.495000	0.48549	0.650000	0.86243	GGT		PASS	0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		71	213	71	213	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233497881	233497881	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:233497881A>T	ENST00000366624.3	+	5	1655	c.1394A>T	c.(1393-1395)cAg>cTg	p.Q465L	MLK4_ENST00000366623.3_Missense_Mutation_p.Q465L	NM_032435.2	NP_115811.2												p.Q465L(1)									CGGCGTGAGCAGCAGCTGGCA	0.577																																						uc001hvt.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(1393-1395)CAG>CTG		mixed lineage kinase 4							40.0	42.0	41.0					1																	233497881		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233497881A>T																												ENST00000366624.3:c.1394A>T	1.37:g.233497881A>T	ENSP00000355583:p.Gln465Leu					KIAA1804_uc001hvs.1_Missense_Mutation_p.Q465L	p.Q465L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			5	1655	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	465			Leucine-zipper 2.			Missense_Mutation	SNP	ENST00000366624.3	37	c.1394A>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.921839	0.92319	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.78364	-0.96;-1.17	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	D	0.83524	0.5273	M	0.76727	2.345	0.80722	D	1	D;P	0.54601	0.967;0.779	P;P	0.53146	0.719;0.593	D	0.86345	0.1707	10	0.87932	D	0	.	14.4474	0.67361	1.0:0.0:0.0:0.0	.	465;465	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	L	465	ENSP00000355582:Q465L;ENSP00000355583:Q465L	ENSP00000355582:Q465L	Q	+	2	0	RP5-862P8.2	231564504	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.315000	0.78998	1.995000	0.58328	0.533000	0.62120	CAG		PASS	0.577	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			19	14	19	14	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234534202	234534202	+	Missense_Mutation	SNP	G	G	A	rs527984546		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:234534202G>A	ENST00000040877.1	-	26	4168	c.4169C>T	c.(4168-4170)gCg>gTg	p.A1390V	TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1390					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.A1390V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGAAATCCCGCAGCTAAAGG	0.363																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4168-4170)GCG>GTG		TAR RNA binding protein 1							85.0	89.0	88.0					1																	234534202		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234534202G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4169C>T	1.37:g.234534202G>A	ENSP00000040877:p.Ala1390Val						p.A1390V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		26	4169	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1390					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4169C>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700457	0.30142	.	.	ENSG00000059588	ENST00000040877	T	0.05855	3.38	5.85	2.92	0.33932	.	0.567591	0.19548	N	0.111630	T	0.05640	0.0148	L	0.41236	1.265	0.09310	N	1	B	0.22146	0.065	B	0.14023	0.01	T	0.37888	-0.9686	10	0.29301	T	0.29	-20.2219	8.0812	0.30746	0.0634:0.1173:0.6973:0.122	.	1390	Q13395	TARB1_HUMAN	V	1390	ENSP00000040877:A1390V	ENSP00000040877:A1390V	A	-	2	0	TARBP1	232600825	0.002000	0.14202	0.000000	0.03702	0.713000	0.41058	1.305000	0.33493	0.371000	0.24564	-0.128000	0.14901	GCG		PASS	0.363	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		27	52	27	52	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059182	248059182	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:248059182C>T	ENST00000360358.3	+	1	294	c.294C>T	c.(292-294)gcC>gcT	p.A98A	OR2W3_ENST00000537741.1_Silent_p.A98A	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A98A(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCTGTGCCATCCAGCTCT	0.562																																						uc001idp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(292-294)GCC>GCT		olfactory receptor, family 2, subfamily W,							151.0	119.0	130.0					1																	248059182		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059182C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.294C>T	1.37:g.248059182C>T						OR2W3_uc010pzb.1_Silent_p.A98A	p.A98A	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	563	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		98			Extracellular (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.294C>T	CCDS31099.1																																																																																				PASS	0.562	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		35	84	35	84	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43968158	43968158	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:43968158A>C	ENST00000282406.4	+	21	3307	c.3197A>C	c.(3196-3198)cAc>cCc	p.H1066P		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1066	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.H1066P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCAGGCTTCACCTAAAGAGG	0.498																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(3196-3198)CAC>CCC		pleckstrin homology domain containing, family H							140.0	118.0	125.0					2																	43968158		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43968158A>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3197A>C	2.37:g.43968158A>C	ENSP00000282406:p.His1066Pro					PLEKHH2_uc002rtf.3_Missense_Mutation_p.H1065P	p.H1066P	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			21	3280	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1066			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3197A>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678496	0.88542	.	.	ENSG00000152527	ENST00000282406	D	0.91740	-2.9	5.34	5.34	0.76211	MyTH4 domain (3);	0.046901	0.85682	D	0.000000	D	0.96667	0.8912	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.987;0.999	D;D	0.68192	0.956;0.952	D	0.97578	1.0109	10	0.87932	D	0	-22.4086	15.6119	0.76727	1.0:0.0:0.0:0.0	.	1066;503	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	P	1066	ENSP00000282406:H1066P	ENSP00000282406:H1066P	H	+	2	0	PLEKHH2	43821662	1.000000	0.71417	0.992000	0.48379	0.866000	0.49608	8.910000	0.92685	2.147000	0.66899	0.533000	0.62120	CAC		PASS	0.498	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		35	33	35	33	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808979	48808979	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:48808979G>T	ENST00000406226.1	+	3	1402	c.1207G>T	c.(1207-1209)Gtt>Ttt	p.V403F	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V403F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V403F|STON1_ENST00000404752.1_Missense_Mutation_p.V403F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V403F|STON1_ENST00000309835.3_Missense_Mutation_p.V403F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V403F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V403F	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	403	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.V403F(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGCCAGCTGTTTCAAAACC	0.423																																						uc010yol.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(1207-1209)GTT>TTT		stonin 1							70.0	71.0	70.0					2																	48808979		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808979G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1207G>T	2.37:g.48808979G>T	ENSP00000384615:p.Val403Phe					STON1_uc002rwo.3_Missense_Mutation_p.V403F|STON1_uc010fbm.2_Missense_Mutation_p.V403F|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V403F|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V403F	p.V403F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1254	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	403					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1207G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.179974	0.01633	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.27	-0.826	0.10805	Stonin homology (1);Clathrin adaptor, mu subunit, C-terminal (2);	0.742997	0.13380	N	0.392222	T	0.12987	0.0315	L	0.36672	1.1	0.09310	N	1	B;P;B	0.42161	0.003;0.772;0.002	B;B;B	0.38378	0.011;0.272;0.004	T	0.23726	-1.0180	10	0.23891	T	0.37	.	7.0635	0.25139	0.4008:0.2671:0.3321:0.0	.	403;403;403	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	F	403	ENSP00000385273:V403F;ENSP00000384615:V403F;ENSP00000310969:V403F;ENSP00000385499:V403F;ENSP00000385701:V403F;ENSP00000378236:V403F;ENSP00000311493:V403F;ENSP00000378234:V403F	ENSP00000310969:V403F	V	+	1	0	STON1-GTF2A1L;STON1	48662483	0.000000	0.05858	0.012000	0.15200	0.885000	0.51271	-0.126000	0.10563	-0.035000	0.13691	-0.786000	0.03341	GTT		PASS	0.423	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		21	39	21	39	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86711188	86711188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:86711188G>T	ENST00000409556.1	+	20	3366	c.3001G>T	c.(3001-3003)Gag>Tag	p.E1001*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.E949*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.E1001*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.E1001*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1001					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E1001*(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGAGTTTGGTGAGCAGGAAGT	0.413																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(3001-3003)GAG>TAG		jumonji domain containing 1A							107.0	106.0	106.0					2																	86711188		2203	4300	6503	SO:0001587	stop_gained	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86711188G>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3001G>T	2.37:g.86711188G>T	ENSP00000386660:p.Glu1001*					KDM3A_uc010ytj.1_Nonsense_Mutation_p.E1001*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.E949*	p.E1001*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			19	3328	+			1001					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Nonsense_Mutation	SNP	ENST00000409556.1	37	c.3001G>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	39	7.721838	0.98453	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	5.82	2.85	0.33270	.	0.633613	0.16386	N	0.216684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.444	0.32830	0.1043:0.3163:0.5795:0.0	.	.	.	.	X	1001;1001;1001;1001;949	.	ENSP00000323659:E1001X	E	+	1	0	KDM3A	86564699	1.000000	0.71417	0.167000	0.22817	0.994000	0.84299	3.880000	0.56145	0.275000	0.22094	0.655000	0.94253	GAG		PASS	0.413	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		4	68	4	68	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136519470	136519470	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:136519470C>T	ENST00000272638.9	+	6	902	c.591C>T	c.(589-591)atC>atT	p.I197I	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	197					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I197I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACCTCAACATCCGAGTGGAAA	0.373																																						uc002tur.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(589-591)ATC>ATT		UBX domain containing 2							60.0	66.0	64.0					2																	136519470		1855	4093	5948	SO:0001819	synonymous_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136519470C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.591C>T	2.37:g.136519470C>T						UBXN4_uc002tus.2_Intron	p.I197I	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			6	902	+			197			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	ENST00000272638.9	37	c.591C>T	CCDS42761.1																																																																																				PASS	0.373	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		20	54	20	54	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873097	136873097	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:136873097C>A	ENST00000241393.3	-	2	505	c.401G>T	c.(400-402)cGc>cTc	p.R134L	CXCR4_ENST00000409817.1_Missense_Mutation_p.R138L|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	134					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.R138L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GGCCAGGTAGCGGTCCAGACT	0.547																																						uc002tuz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(400-402)CGC>CTC		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						168.0	145.0	153.0					2																	136873097		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873097C>A	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.401G>T	2.37:g.136873097C>A	ENSP00000241393:p.Arg134Leu					CXCR4_uc002tuy.2_Missense_Mutation_p.R138L|CXCR4_uc010fnk.2_Missense_Mutation_p.R119L	p.R134L	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	496	-			134	R->A: Loss of agonist-induced G-protein activation.		Important for signaling.|Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.401G>T	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512475	0.85389	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	D;D	0.97161	-4.27;-4.27	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98708	1.0703	10	0.87932	D	0	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	134;138	P61073;P61073-2	CXCR4_HUMAN;.	L	138;134	ENSP00000386884:R138L;ENSP00000241393:R134L	ENSP00000241393:R134L	R	-	2	0	CXCR4	136589567	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	CGC		PASS	0.547	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			27	117	27	117	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141202195	141202195	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:141202195G>T	ENST00000389484.3	-	64	11082	c.10111C>A	c.(10111-10113)Cta>Ata	p.L3371I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3371	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3371I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGCTGGTAGAGCACAGAGT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10111-10113)CTA>ATA		low density lipoprotein-related protein 1B							101.0	94.0	97.0					2																	141202195		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141202195G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10111C>A	2.37:g.141202195G>T	ENSP00000374135:p.Leu3371Ile	TSP Lung(27;0.18)					p.L3371I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	64	11083	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3371			Extracellular (Potential).|LDL-receptor class A 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10111C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585255	0.66105	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95377	-3.69	5.85	4.06	0.47325	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000011	D	0.93536	0.7937	L	0.41906	1.305	0.33217	D	0.554206	D	0.54964	0.969	P	0.56163	0.793	D	0.91252	0.5030	10	0.19590	T	0.45	.	5.5422	0.17043	0.213:0.0:0.6472:0.1398	.	3371	Q9NZR2	LRP1B_HUMAN	I	3371;3309	ENSP00000374135:L3371I	ENSP00000374135:L3371I	L	-	1	2	LRP1B	140918665	0.438000	0.25602	0.986000	0.45419	0.984000	0.73092	1.089000	0.30890	0.829000	0.34733	0.563000	0.77884	CTA		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	48	16	48	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141253313	141253313	+	Missense_Mutation	SNP	T	T	C	rs554725968		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:141253313T>C	ENST00000389484.3	-	56	9826	c.8855A>G	c.(8854-8856)aAa>aGa	p.K2952R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2952	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K2952R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCCAGCATTTGCACTGGGA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8854-8856)AAA>AGA		low density lipoprotein-related protein 1B							82.0	73.0	76.0					2																	141253313		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253313T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8855A>G	2.37:g.141253313T>C	ENSP00000374135:p.Lys2952Arg	TSP Lung(27;0.18)					p.K2952R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9827	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2952			Extracellular (Potential).|EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8855A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531969	0.45073	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94092	-3.35	5.82	5.82	0.92795	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	N	0.05031	-0.125	0.54753	D	0.999989	D	0.76494	0.999	D	0.83275	0.996	D	0.90617	0.4556	10	0.19147	T	0.46	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	2952	Q9NZR2	LRP1B_HUMAN	R	2952;2890	ENSP00000374135:K2952R	ENSP00000374135:K2952R	K	-	2	0	LRP1B	140969783	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.204000	0.72143	2.232000	0.73038	0.528000	0.53228	AAA		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	26	10	26	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141299461	141299461	+	Missense_Mutation	SNP	C	C	T	rs201905999		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:141299461C>T	ENST00000389484.3	-	44	8245	c.7274G>A	c.(7273-7275)aGa>aAa	p.R2425K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2425					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2425K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATAGCTCTTCTTCCCCAGTC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7273-7275)AGA>AAA		low density lipoprotein-related protein 1B							123.0	114.0	117.0					2																	141299461		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299461C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7274G>A	2.37:g.141299461C>T	ENSP00000374135:p.Arg2425Lys	TSP Lung(27;0.18)					p.R2425K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8246	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2425			Extracellular (Potential).|LDL-receptor class B 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7274G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300674	0.81136	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.92616	0.7654	L	0.49699	1.58	0.51233	D	0.999918	D	0.64830	0.994	D	0.70716	0.97	D	0.88043	0.2782	10	0.02654	T	1	.	19.2959	0.94122	0.0:1.0:0.0:0.0	.	2425	Q9NZR2	LRP1B_HUMAN	K	2425;2363	ENSP00000374135:R2425K	ENSP00000374135:R2425K	R	-	2	0	LRP1B	141015931	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.992000	0.70609	2.552000	0.86080	0.491000	0.48974	AGA		PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	76	12	76	---	---	---	---
ARL6IP6	151188	broad.mit.edu	37	2	153575168	153575168	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:153575168G>A	ENST00000326446.5	+	1	741	c.30G>A	c.(28-30)tcG>tcA	p.S10S	PRPF40A_ENST00000486100.1_5'Flank|PRPF40A_ENST00000410080.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	10						integral component of membrane (GO:0016021)		p.S10S(1)		kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GGTGGCGGTCGGCTCTGCGGC	0.692																																						uc002tyn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)TCG>TCA		ADP-ribosylation-like factor 6 interacting							25.0	34.0	31.0					2																	153575168		2125	4206	6331	SO:0001819	synonymous_variant	151188					integral to membrane		g.chr2:153575168G>A	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.30G>A	2.37:g.153575168G>A						ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	p.S10S	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			1	746	+			10					B2RDS6|Q7Z4G7	Silent	SNP	ENST00000326446.5	37	c.30G>A	CCDS2197.1																																																																																				PASS	0.692	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		43	39	43	39	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155158018	155158018	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:155158018G>T	ENST00000392825.3	+	9	1639	c.1072G>T	c.(1072-1074)Ggt>Tgt	p.G358C	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.G358C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	358					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)	p.G358C(2)		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						TGGTGGCACTGGTCATGTCAT	0.438																																						uc002tyr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1072-1074)GGT>TGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							215.0	209.0	211.0					2																	155158018		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155158018G>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.1072G>T	2.37:g.155158018G>T	ENSP00000376570:p.Gly358Cys					GALNT13_uc002tyt.3_Missense_Mutation_p.G358C|GALNT13_uc010foc.1_Missense_Mutation_p.G177C|GALNT13_uc010fod.2_Missense_Mutation_p.G111C	p.G358C	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1639	+			358			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1072G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954942	0.73902	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.71461	-0.57;-0.57	5.36	5.36	0.76844	.	0.097811	0.64402	D	0.000001	T	0.80486	0.4632	M	0.86740	2.835	0.80722	D	1	P;P;D;P	0.60160	0.715;0.729;0.987;0.851	B;B;P;B	0.48270	0.309;0.212;0.572;0.271	D	0.84901	0.0842	10	0.72032	D	0.01	.	18.4424	0.90671	0.0:0.0:1.0:0.0	.	358;358;358;358	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	C	358	ENSP00000376570:G358C;ENSP00000387239:G358C	ENSP00000376570:G358C	G	+	1	0	GALNT13	154866264	1.000000	0.71417	0.998000	0.56505	0.473000	0.32948	9.706000	0.98722	2.673000	0.90976	0.655000	0.94253	GGT		PASS	0.438	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		82	111	82	111	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163291882	163291882	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:163291882G>T	ENST00000332142.5	-	8	1879	c.1780C>A	c.(1780-1782)Caa>Aaa	p.Q594K	KCNH7_ENST00000328032.4_Missense_Mutation_p.Q587K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	594					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.Q594K(1)|p.Q587K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTCCCAATTTGCTGTCCTAAG	0.433																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1780-1782)CAA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						216.0	194.0	202.0					2																	163291882		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291882G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1780C>A	2.37:g.163291882G>T	ENSP00000331727:p.Gln594Lys					KCNH7_uc002uci.2_Missense_Mutation_p.Q587K	p.Q594K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			8	1992	-			594			Extracellular (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1780C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182574	0.78677	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99594	-5.16;-6.25	5.9	5.9	0.94986	Ion transport (1);	0.106287	0.64402	D	0.000002	D	0.98723	0.9571	L	0.48362	1.52	0.54753	D	0.999986	P;B	0.41008	0.735;0.372	B;B	0.38985	0.287;0.216	D	0.99869	1.1094	10	0.46703	T	0.11	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	587;594	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	594;587	ENSP00000331727:Q594K;ENSP00000333781:Q587K	ENSP00000333781:Q587K	Q	-	1	0	KCNH7	163000128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.435000	0.73412	2.788000	0.95919	0.650000	0.86243	CAA		PASS	0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		20	104	20	104	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216259272	216259272	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:216259272T>C	ENST00000359671.1	-	24	4040	c.3775A>G	c.(3775-3777)Atc>Gtc	p.I1259V	FN1_ENST00000354785.4_Missense_Mutation_p.I1259V|FN1_ENST00000323926.6_Missense_Mutation_p.I1259V|FN1_ENST00000432072.2_Missense_Mutation_p.I1259V|FN1_ENST00000336916.4_Missense_Mutation_p.I1259V|FN1_ENST00000346544.3_Missense_Mutation_p.I1259V|FN1_ENST00000357009.2_Missense_Mutation_p.I1259V|FN1_ENST00000421182.1_Missense_Mutation_p.I1259V|FN1_ENST00000345488.5_Missense_Mutation_p.I1259V|FN1_ENST00000357867.4_Missense_Mutation_p.I1259V|FN1_ENST00000446046.1_Missense_Mutation_p.I1259V|FN1_ENST00000443816.1_Missense_Mutation_p.I1259V|FN1_ENST00000356005.4_Missense_Mutation_p.I1259V			P02751	FINC_HUMAN	fibronectin 1	1259	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.I1259V(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTATCAGAGATAGGGACACTT	0.453																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(3775-3777)ATC>GTC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						161.0	156.0	158.0					2																	216259272		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216259272T>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3775A>G	2.37:g.216259272T>C	ENSP00000352696:p.Ile1259Val					FN1_uc002vfb.2_Missense_Mutation_p.I1259V|FN1_uc002vfc.2_Missense_Mutation_p.I1259V|FN1_uc002vfd.2_Missense_Mutation_p.I1259V|FN1_uc002vfe.2_Missense_Mutation_p.I1259V|FN1_uc002vff.2_Missense_Mutation_p.I1259V|FN1_uc002vfg.2_Missense_Mutation_p.I1259V|FN1_uc002vfh.2_Missense_Mutation_p.I1259V|FN1_uc002vfi.2_Missense_Mutation_p.I1259V|FN1_uc002vfj.2_Missense_Mutation_p.I1259V|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	p.I1259V	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	24	4041	-		Renal(323;0.127)	1259			Fibronectin type-III 7.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3775A>G		.	.	.	.	.	.	.	.	.	.	T	8.150	0.787085	0.16189	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;2.41;2.57;0.71;2.63;2.27;0.71;2.26;2.56;2.29;0.71;1.09;0.71	5.64	2.08	0.27032	.	0.177866	0.38778	N	0.001569	T	0.18509	0.0444	N	0.01779	-0.725	0.41004	D	0.984953	B;B;B;B;B;B;B;B;B;B	0.17852	0.004;0.0;0.024;0.0;0.015;0.0;0.003;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.26310	0.005;0.007;0.068;0.001;0.004;0.003;0.015;0.002;0.001;0.011	T	0.02975	-1.1087	10	0.25106	T	0.35	.	5.1732	0.15122	0.0:0.2147:0.1413:0.644	.	1259;1259;1259;1259;1259;1259;1259;1259;1259;1259	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1259	ENSP00000394423:I1259V;ENSP00000323534:I1259V;ENSP00000338200:I1259V;ENSP00000350534:I1259V;ENSP00000346839:I1259V;ENSP00000352696:I1259V;ENSP00000265312:I1259V;ENSP00000273049:I1259V;ENSP00000349509:I1259V;ENSP00000410422:I1259V;ENSP00000415018:I1259V;ENSP00000399538:I1259V;ENSP00000348285:I1259V	ENSP00000265313:I1259V	I	-	1	0	FN1	215967517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.260000	0.32968	0.436000	0.26393	0.533000	0.62120	ATC		PASS	0.453	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		49	97	49	97	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224809975	224809975	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:224809975C>T	ENST00000233055.4	-	1	129	c.27G>A	c.(25-27)ccG>ccA	p.P9P		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	9						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.P9P(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGCTGCTCTGCGGCCTGGAGT	0.726																																						uc002vnq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(25-27)CCG>CCA		WD repeat and FYVE domain containing 1							14.0	17.0	16.0					2																	224809975		2176	4251	6427	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224809975C>T	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.27G>A	2.37:g.224809975C>T							p.P9P	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	1	78	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	9					Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.27G>A	CCDS33387.1																																																																																				PASS	0.726	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		12	26	12	26	---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39433022	39433022	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:39433022G>T	ENST00000273158.4	+	4	744	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38									p.A123S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCCCCAACCGCCCTGGAGTC	0.527																																						uc003cjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GCC>TCC		solute carrier family 25, member 38							157.0	172.0	167.0					3																	39433022		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39433022G>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.367G>T	3.37:g.39433022G>T	ENSP00000273158:p.Ala123Ser						p.A123S	NM_017875	NP_060345	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	768	+			123			Solcar 2.			Missense_Mutation	SNP	ENST00000273158.4	37	c.367G>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.255025	0.39896	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79554	-1.28;-1.19	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.100082	0.64402	D	0.000002	T	0.71492	0.3346	L	0.39085	1.19	0.49687	D	0.999819	P	0.35307	0.494	B	0.37047	0.24	T	0.67360	-0.5690	10	0.17832	T	0.49	-23.7731	11.9697	0.53058	0.0:0.1751:0.8249:0.0	.	123	Q96DW6	S2538_HUMAN	S	123;119	ENSP00000273158:A123S;ENSP00000394244:A119S	ENSP00000273158:A123S	A	+	1	0	SLC25A38	39408026	1.000000	0.71417	0.955000	0.39395	0.549000	0.35272	4.266000	0.58871	2.411000	0.81874	0.655000	0.94253	GCC		PASS	0.527	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		155	158	155	158	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342127	65342127	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:65342127C>A	ENST00000402939.2	-	23	4314	c.4315G>T	c.(4315-4317)Ggc>Tgc	p.G1439C	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1468					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.G1439C(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAACTTCTGCCGGCATCCTGT	0.557																																						uc003dmn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(4315-4317)GGC>TGC		membrane associated guanylate kinase, WW and PDZ							122.0	121.0	121.0					3																	65342127		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342127C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4315G>T	3.37:g.65342127C>A	ENSP00000385450:p.Gly1439Cys					MAGI1_uc003dmm.2_3'UTR	p.G1439C	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4841	-		Lung NSC(201;0.0016)	1468					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4315G>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	8.371	0.835407	0.16820	.	.	ENSG00000151276	ENST00000402939	T	0.13196	2.61	5.43	3.22	0.36961	.	0.428671	0.24158	N	0.041010	T	0.11067	0.0270	N	0.19112	0.55	0.20975	N	0.999814	D	0.60575	0.988	P	0.51355	0.667	T	0.11036	-1.0604	10	0.56958	D	0.05	-11.0032	2.7497	0.05277	0.0:0.3641:0.245:0.3909	.	1439	Q96QZ7-2	.	C	1439	ENSP00000385450:G1439C	ENSP00000385450:G1439C	G	-	1	0	MAGI1	65317167	0.176000	0.23096	0.160000	0.22671	0.271000	0.26615	0.696000	0.25541	1.141000	0.42275	0.655000	0.94253	GGC		PASS	0.557	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		154	48	154	48	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205461	88205461	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:88205461G>A	ENST00000318887.3	+	3	976	c.666G>A	c.(664-666)ctG>ctA	p.L222L	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	222					apoptotic process (GO:0006915)			p.L220L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CACATGGACTGAAATGTGCAT	0.433																																						uc003dqw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(664-666)CTG>CTA		hypothetical protein LOC285237							133.0	129.0	130.0					3																	88205461		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88205461G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.666G>A	3.37:g.88205461G>A							p.L222L	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	977	+		Lung NSC(201;0.17)	222					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.666G>A	CCDS2921.2																																																																																				PASS	0.433	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		27	241	27	241	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108182048	108182048	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:108182048G>T	ENST00000273353.3	-	17	1890	c.1834C>A	c.(1834-1836)Ctc>Atc	p.L612I	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	612	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L612I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCATTAAGGAGGTCTTTGTTC	0.373																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(1834-1836)CTC>ATC		myosin, heavy polypeptide 15							171.0	161.0	164.0					3																	108182048		1825	4087	5912	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108182048G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1834C>A	3.37:g.108182048G>T	ENSP00000273353:p.Leu612Ile						p.L612I	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			17	1891	-			612			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1834C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620064	0.46736	.	.	ENSG00000144821	ENST00000273353	D	0.87571	-2.27	5.65	-0.862	0.10673	Myosin head, motor domain (2);	.	.	.	.	T	0.80989	0.4730	L	0.59967	1.855	0.24709	N	0.993219	B	0.14012	0.009	B	0.17979	0.02	T	0.69394	-0.5157	9	0.72032	D	0.01	.	2.1401	0.03772	0.1957:0.1102:0.4672:0.2269	.	612	Q9Y2K3	MYH15_HUMAN	I	612	ENSP00000273353:L612I	ENSP00000273353:L612I	L	-	1	0	MYH15	109664738	1.000000	0.71417	0.857000	0.33713	0.975000	0.68041	2.673000	0.46858	-0.197000	0.10350	-0.182000	0.12963	CTC		PASS	0.373	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		34	149	34	149	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113329993	113329993	+	Splice_Site	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:113329993T>C	ENST00000264852.4	+	18	2583		c.e18+2		SIDT1_ENST00000463226.1_Splice_Site|SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1						dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTGGAGTGGTGCGTCCCCCA	0.527																																						uc003eak.2																			1	Unknown(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.e18+2		SID1 transmembrane family, member 1 precursor							173.0	144.0	154.0					3																	113329993		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113329993T>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1857+2T>C	3.37:g.113329993T>C						SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.V619_splice|SIDT1_uc011big.1_Splice_Site_p.V372_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_Splice_Site_p.V72_splice	p.V619_splice	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			18	2508	+								Q17RR4	Splice_Site	SNP	ENST00000264852.4	37	c.1857_splice	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803782	0.90623	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1333	0.81461	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT1	114812683	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.967000	0.87967	2.203000	0.70933	0.523000	0.50628	.		PASS	0.527	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	Intron	32	79	32	79	---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145828223	145828223	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:145828223T>C	ENST00000360060.3	-	4	528	c.351A>G	c.(349-351)atA>atG	p.I117M	PLOD2_ENST00000282903.5_Missense_Mutation_p.I117M|PLOD2_ENST00000494950.1_Missense_Mutation_p.I62M	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	117					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.I117M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CACCAGCAAATATGACATCAA	0.358																																						uc003evs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)ATA>ATG		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						85.0	86.0	86.0					3																	145828223		2202	4300	6502	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145828223T>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.351A>G	3.37:g.145828223T>C	ENSP00000353170:p.Ile117Met					PLOD2_uc011bnm.1_Missense_Mutation_p.I62M|PLOD2_uc003evr.1_Missense_Mutation_p.I117M	p.I117M	NM_000935	NP_000926	O00469	PLOD2_HUMAN			4	857	-			117					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.351A>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584845	0.65992	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.16	0.781	0.18561	.	0.096947	0.64402	D	0.000001	T	0.45074	0.1324	M	0.78637	2.42	0.52501	D	0.99995	B;P;P	0.40660	0.368;0.726;0.686	B;P;P	0.55455	0.356;0.655;0.776	T	0.42447	-0.9451	10	0.87932	D	0	-20.1353	5.6139	0.17420	0.2796:0.0:0.2742:0.4462	.	62;117;117	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	M	117;117;62;89	ENSP00000282903:I117M;ENSP00000353170:I117M;ENSP00000420094:I62M;ENSP00000419963:I89M	ENSP00000282903:I117M	I	-	3	3	PLOD2	147310913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.040000	0.41203	0.763000	0.33175	0.477000	0.44152	ATA		PASS	0.358	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		18	109	18	109	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362564	186362564	+	Missense_Mutation	SNP	C	C	T	rs541290079		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:186362564C>T	ENST00000265029.3	+	4	550	c.449C>T	c.(448-450)aCg>aTg	p.T150M	FETUB_ENST00000382136.3_Missense_Mutation_p.T113M|FETUB_ENST00000539949.1_Missense_Mutation_p.T2M|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.T85M|FETUB_ENST00000450521.1_Missense_Mutation_p.T150M	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	150	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.T150M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ATTTACATGACGTGCCCTGAC	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19969	0.0		0.0	False		,,,				2504	0.0					uc010hyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(448-450)ACG>ATG		fetuin B precursor							121.0	113.0	115.0					3																	186362564		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362564C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.449C>T	3.37:g.186362564C>T	ENSP00000265029:p.Thr150Met					FETUB_uc011brz.1_Missense_Mutation_p.T2M|FETUB_uc003fqn.2_Missense_Mutation_p.T150M|FETUB_uc003fqo.2_Missense_Mutation_p.T45M|FETUB_uc010hyr.2_Missense_Mutation_p.T113M|FETUB_uc010hys.2_Missense_Mutation_p.T2M|FETUB_uc003fqp.3_Missense_Mutation_p.T85M	p.T150M	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	5	710	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		150			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.449C>T	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	3.715	-0.058814	0.07317	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.17854	3.03;2.25;3.11;3.03;3.27;2.92	5.29	-10.6	0.00265	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (1);	1.507190	0.03789	N	0.262479	T	0.05731	0.0150	N	0.11818	0.18	0.09310	N	1	B;B;B	0.31705	0.05;0.009;0.336	B;B;B	0.15484	0.003;0.008;0.013	T	0.08166	-1.0735	10	0.22109	T	0.4	3.5359	4.828	0.13427	0.0943:0.4097:0.2859:0.2101	.	113;85;150	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	M	150;2;2;150;85;113	ENSP00000404288:T150M;ENSP00000396581:T2M;ENSP00000443704:T2M;ENSP00000265029:T150M;ENSP00000371569:T85M;ENSP00000371571:T113M	ENSP00000265029:T150M	T	+	2	0	FETUB	187845258	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.019000	0.03622	-3.596000	0.00135	-0.290000	0.09829	ACG		PASS	0.393	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		26	154	26	154	---	---	---	---
OSTN	344901	broad.mit.edu	37	3	190936651	190936651	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:190936651A>G	ENST00000339051.1	+	2	218	c.218A>G	c.(217-219)aAt>aGt	p.N73S	OSTN_ENST00000445281.1_Missense_Mutation_p.N73S|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	73					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.N73S(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TCCCTAGAAAATGATGTGATT	0.453																																						uc011bsn.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(217-219)AAT>AGT		osteocrin precursor							140.0	131.0	134.0					3																	190936651		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936651A>G	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.218A>G	3.37:g.190936651A>G	ENSP00000342356:p.Asn73Ser						p.N73S	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	2	218	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		73					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.218A>G	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165148	0.78339	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.63843	1.955	0.46437	D	0.999045	D	0.89917	1.0	D	0.87578	0.998	T	0.79349	-0.1840	9	0.87932	D	0	-0.6553	14.9989	0.71455	1.0:0.0:0.0:0.0	.	73	P61366	OSTN_HUMAN	S	73	.	ENSP00000342356:N73S	N	+	2	0	OSTN	192419345	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.938000	0.75904	2.142000	0.66516	0.459000	0.35465	AAT		PASS	0.453	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		91	41	91	41	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196229779	196229779	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:196229779T>C	ENST00000318037.3	-	1	860	c.266A>G	c.(265-267)aAg>aGg	p.K89R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	89					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K89R(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGCTCTAAGCTTGCACTCCCT	0.493																																						uc003fwq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)AAG>AGG		ring finger protein 168							90.0	79.0	83.0					3																	196229779		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229779T>C	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.266A>G	3.37:g.196229779T>C	ENSP00000320898:p.Lys89Arg					RNF168_uc010iah.2_5'UTR	p.K89R	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	804	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		89					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.266A>G	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259789	0.39995	.	.	ENSG00000163961	ENST00000318037	T	0.06933	3.24	6.0	3.69	0.42338	.	0.181155	0.39210	N	0.001434	T	0.08714	0.0216	L	0.52364	1.645	0.29166	N	0.877469	B	0.22604	0.072	B	0.24701	0.055	T	0.10590	-1.0623	10	0.19147	T	0.46	-12.0752	10.9398	0.47266	0.0:0.1122:0.0:0.8878	.	89	Q8IYW5	RN168_HUMAN	R	89	ENSP00000320898:K89R	ENSP00000320898:K89R	K	-	2	0	RNF168	197714176	1.000000	0.71417	0.995000	0.50966	0.166000	0.22503	2.815000	0.48018	2.313000	0.78055	0.454000	0.30748	AAG		PASS	0.493	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		22	104	22	104	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196754761	196754761	+	Missense_Mutation	SNP	G	G	A	rs372423742		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:196754761G>A	ENST00000296350.5	-	2	183	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	MFI2_ENST00000296351.4_Missense_Mutation_p.R24W	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	24	Antigenic epitope.|Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R24W(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCGCACCACCGCACCTCCATG	0.726																																						uc003fxk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(70-72)CGG>TGG		melanoma-associated antigen p97 isoform 1			TRP/ARG,TRP/ARG	0,4398		0,0,2199	35.0	31.0	32.0		70,70	3.8	1.0	3		32	1,8597		0,1,4298	no	missense,missense	MFI2	NM_005929.5,NM_033316.3	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	24/739,24/303	196754761	1,12995	2199	4299	6498	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196754761G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.70C>T	3.37:g.196754761G>A	ENSP00000296350:p.Arg24Trp					MFI2_uc003fxl.3_Missense_Mutation_p.R24W|MFI2_uc011bua.1_Missense_Mutation_p.R24W	p.R24W	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	2	183	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		24			Antigenic epitope.|Transferrin-like 1.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.70C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.355643	0.61293	0.0	1.16E-4	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.40225	1.04;1.04;1.04	4.83	3.85	0.44370	.	0.161501	0.52532	D	0.000070	T	0.71134	0.3304	M	0.93197	3.39	0.34390	D	0.694028	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.991	D	0.84186	0.0442	10	0.87932	D	0	-13.6034	12.9432	0.58357	0.0:0.0:0.7492:0.2508	.	24;24;24	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	W	24	ENSP00000296350:R24W;ENSP00000296351:R24W;ENSP00000393439:R24W	ENSP00000296350:R24W	R	-	1	2	MFI2	198239158	0.042000	0.20092	1.000000	0.80357	0.438000	0.31896	1.347000	0.33975	2.228000	0.72767	0.556000	0.70494	CGG		PASS	0.726	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			9	20	9	20	---	---	---	---
FYTTD1	84248	broad.mit.edu	37	3	197505234	197505234	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr3:197505234A>G	ENST00000241502.4	+	8	979	c.757A>G	c.(757-759)Act>Gct	p.T253A	FYTTD1_ENST00000428395.2_Missense_Mutation_p.T162A|FYTTD1_ENST00000415708.2_Missense_Mutation_p.T227A|FYTTD1_ENST00000424384.2_Missense_Mutation_p.T186A	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	253					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.T253A(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ATTAACTCGTACTGCTGTACC	0.353																																						uc003fyi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)ACT>GCT		forty-two-three domain containing 1 isoform 1							65.0	63.0	64.0					3																	197505234		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197505234A>G	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.757A>G	3.37:g.197505234A>G	ENSP00000241502:p.Thr253Ala					FYTTD1_uc011bui.1_Missense_Mutation_p.T227A|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.T186A	p.T253A	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	8	976	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	253					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.757A>G	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117485	0.37339	.	.	ENSG00000122068	ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.0	2.48	0.30137	.	0.158032	0.56097	N	0.000021	T	0.45935	0.1367	L	0.60455	1.87	0.31092	N	0.71071	P;P	0.42409	0.738;0.779	B;P	0.46796	0.392;0.527	T	0.48990	-0.8985	10	0.38643	T	0.18	-4.8294	6.0481	0.19772	0.7788:0.0:0.0782:0.143	.	227;253	Q96QD9-2;Q96QD9	.;UIF_HUMAN	A	227;162;253;186	ENSP00000393746:T227A;ENSP00000391157:T162A;ENSP00000241502:T253A;ENSP00000394631:T186A	ENSP00000241502:T253A	T	+	1	0	FYTTD1	198989631	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.791000	0.38744	0.294000	0.22547	0.378000	0.23410	ACT		PASS	0.353	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		15	69	15	69	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39436232	39436232	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:39436232C>T	ENST00000257408.4	+	2	1325	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	410	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.P410S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATACAACAACCCTCGAATCTT	0.428																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1228-1230)CCT>TCT		klotho beta							100.0	99.0	99.0					4																	39436232		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436232C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1228C>T	4.37:g.39436232C>T	ENSP00000257408:p.Pro410Ser					KLB_uc011byj.1_Missense_Mutation_p.P410S	p.P410S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	1325	+			410			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1228C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976285	0.74360	.	.	ENSG00000134962	ENST00000257408	T	0.32515	1.45	6.06	3.43	0.39272	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.157981	0.56097	D	0.000022	T	0.50343	0.1610	H	0.95365	3.66	0.45995	D	0.998804	P;P	0.41475	0.751;0.751	P;P	0.45167	0.472;0.472	T	0.55958	-0.8058	10	0.62326	D	0.03	-9.3655	8.9194	0.35601	0.1229:0.7499:0.0:0.1272	.	410;410	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	410	ENSP00000257408:P410S	ENSP00000257408:P410S	P	+	1	0	KLB	39112627	1.000000	0.71417	0.680000	0.29994	0.971000	0.66376	6.056000	0.71111	0.451000	0.26802	0.655000	0.94253	CCT		PASS	0.428	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		37	15	37	15	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66189898	66189898	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:66189898C>T	ENST00000273854.3	-	18	3648	c.3048G>A	c.(3046-3048)caG>caA	p.Q1016Q	EPHA5_ENST00000354839.4_Silent_p.Q994Q|EPHA5_ENST00000432638.2_Silent_p.Q853Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1016	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.Q1016Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCTTCTTCTGGTGACCGA	0.418										TSP Lung(17;0.13)																												uc003hcy.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(3046-3048)CAG>CAA		ephrin receptor EphA5 isoform a precursor							117.0	106.0	109.0					4																	66189898		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66189898C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3048G>A	4.37:g.66189898C>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.Q948Q|EPHA5_uc003hcz.2_Silent_p.Q994Q|EPHA5_uc011cah.1_Silent_p.Q1017Q|EPHA5_uc011cai.1_Silent_p.Q995Q	p.Q1016Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN			18	3241	-			1016			Cytoplasmic (Potential).|SAM.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.3048G>A	CCDS3513.1																																																																																				PASS	0.418	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		24	123	24	123	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66231713	66231713	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:66231713C>A	ENST00000273854.3	-	11	2587	c.1987G>T	c.(1987-1989)Gtc>Ttc	p.V663F	EPHA5_ENST00000511294.1_Missense_Mutation_p.V664F|EPHA5_ENST00000354839.4_Missense_Mutation_p.V641F|EPHA5_ENST00000432638.2_Missense_Mutation_p.V500F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	663					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V663F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATTCGTGGACAGCTTGATTG	0.363										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1987-1989)GTC>TTC		ephrin receptor EphA5 isoform a precursor							226.0	182.0	197.0					4																	66231713		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66231713C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1987G>T	4.37:g.66231713C>A	ENSP00000273854:p.Val663Phe	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.V595F|EPHA5_uc003hcz.2_Missense_Mutation_p.V641F|EPHA5_uc011cah.1_Missense_Mutation_p.V664F|EPHA5_uc011cai.1_Missense_Mutation_p.V642F|EPHA5_uc003hda.2_Missense_Mutation_p.V664F	p.V663F	NM_004439	NP_004430	P54756	EPHA5_HUMAN			11	2180	-			663			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1987G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225271	0.95173	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.69	5.69	0.88448	Protein kinase-like domain (1);	0.000000	0.51477	D	0.000094	T	0.63319	0.2501	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.999;0.99;1.0;0.933	T	0.75491	-0.3299	10	0.87932	D	0	.	19.8167	0.96571	0.0:1.0:0.0:0.0	.	642;664;641;663	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	663;500;641;664	ENSP00000273854:V663F;ENSP00000389208:V500F;ENSP00000346899:V641F;ENSP00000427638:V664F	ENSP00000273854:V663F	V	-	1	0	EPHA5	65914308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.685000	0.91497	0.557000	0.71058	GTC		PASS	0.363	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		78	76	78	76	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80929677	80929677	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:80929677C>A	ENST00000307333.7	-	12	1041	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	ANTXR2_ENST00000346652.6_Missense_Mutation_p.V244L|ANTXR2_ENST00000403729.2_Missense_Mutation_p.V347L|ANTXR2_ENST00000404191.1_Missense_Mutation_p.V270L	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	347					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.V347L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTACTCACCACTTTGCAGCAA	0.378									Juvenile Hyaline Fibromatosis																													uc003hlz.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1039-1041)GTG>TTG		anthrax toxin receptor 2 isoform 2							97.0	91.0	93.0					4																	80929677		1891	4124	6015	SO:0001583	missense	118429	Juvenile_Hyaline_Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80929677C>A	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1039G>T	4.37:g.80929677C>A	ENSP00000306185:p.Val347Leu					ANTXR2_uc003hly.3_Missense_Mutation_p.V347L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.V244L	p.V347L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN			12	1802	-			347			Cytoplasmic (Potential).		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	c.1039G>T	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386403	0.61956	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.49720	2.32;0.77;2.25;2.32	5.12	4.25	0.50352	.	0.057515	0.64402	N	0.000002	T	0.50171	0.1600	M	0.72894	2.215	0.80722	D	1	B;P;P	0.43024	0.006;0.696;0.798	B;B;B	0.42522	0.016;0.326;0.39	T	0.56691	-0.7937	10	0.72032	D	0.01	-15.1718	12.1087	0.53827	0.1721:0.8279:0.0:0.0	.	244;347;347	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	L	347;270;244;347	ENSP00000385575:V347L;ENSP00000384028:V270L;ENSP00000314883:V244L;ENSP00000306185:V347L	ENSP00000306185:V347L	V	-	1	0	ANTXR2	81148701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.796000	0.55507	1.247000	0.43917	0.591000	0.81541	GTG		PASS	0.378	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		35	30	35	30	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87706382	87706382	+	Splice_Site	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:87706382A>T	ENST00000411767.2	+	39	6181		c.e39-1		PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000511467.1_Splice_Site|PTPN13_ENST00000436978.1_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTATTTTTCAAGAATCTTATA	0.338																																						uc003hpz.2																			1	Unknown(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.e39-2		protein tyrosine phosphatase, non-receptor type							22.0	22.0	22.0					4																	87706382		1794	4054	5848	SO:0001630	splice_region_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87706382A>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6119-1A>T	4.37:g.87706382A>T						PTPN13_uc003hpy.2_Splice_Site_p.E2045_splice|PTPN13_uc003hqa.2_Splice_Site_p.E2021_splice|PTPN13_uc003hqb.2_Splice_Site_p.E1849_splice|PTPN13_uc003hqc.1_Splice_Site_p.E406_splice	p.E2040_splice	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	39	6599	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)						B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Splice_Site	SNP	ENST00000411767.2	37	c.6119_splice	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725660	0.30593	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5409	0.61672	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPN13	87925406	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	6.094000	0.71431	2.086000	0.62901	0.383000	0.25322	.		PASS	0.338	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		Intron	13	14	13	14	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	118975203	118975203	+	Silent	SNP	G	G	A	rs145505386		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:118975203G>A	ENST00000296499.5	+	2	541	c.138G>A	c.(136-138)acG>acA	p.T46T	NDST3_ENST00000433996.2_Silent_p.T46T	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	46	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.T46T(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCTCTGAGACGGCTTCAGAAG	0.443																																						uc003ibx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(136-138)ACG>ACA		N-deacetylase/N-sulfotransferase (heparan		G		0,4406		0,0,2203	120.0	116.0	117.0		138	4.8	0.1	4	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDST3	NM_004784.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		46/874	118975203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975203G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.138G>A	4.37:g.118975203G>A						NDST3_uc011cgf.1_Silent_p.T46T|NDST3_uc003ibw.2_Silent_p.T46T	p.T46T	NM_004784	NP_004775	O95803	NDST3_HUMAN			2	541	+			46			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.138G>A	CCDS3708.1																																																																																				PASS	0.443	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		102	160	102	160	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122254006	122254006	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:122254006A>G	ENST00000394427.2	-	4	1178	c.767T>C	c.(766-768)aTt>aCt	p.I256T	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	256				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.I256T(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTTTCCATGAATAGTTCGAAG	0.358																																						uc010inj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)ATT>ACT		G protein-coupled receptor 103							79.0	77.0	77.0					4																	122254006		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122254006A>G	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.767T>C	4.37:g.122254006A>G	ENSP00000377948:p.Ile256Thr					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Intron	p.I256T	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			4	1146	-			256	VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.767T>C	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548539	0.45383	.	.	ENSG00000186867	ENST00000394427	T	0.72167	-0.63	6.17	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.218067	0.50627	N	0.000110	T	0.61009	0.2313	N	0.22421	0.69	0.80722	D	1	D	0.54601	0.967	P	0.49502	0.613	T	0.56105	-0.8034	10	0.11485	T	0.65	.	12.1877	0.54250	0.9342:0.0:0.0658:0.0	.	256	Q96P65	QRFPR_HUMAN	T	256	ENSP00000377948:I256T	ENSP00000377948:I256T	I	-	2	0	QRFPR	122473456	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	7.109000	0.77062	1.166000	0.42689	0.533000	0.62120	ATT		PASS	0.358	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		46	73	46	73	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411435	126411435	+	Silent	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:126411435G>T	ENST00000394329.3	+	17	13471	c.13458G>T	c.(13456-13458)ggG>ggT	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13456-13458)GGG>GGT		FAT tumor suppressor homolog 4 precursor							88.0	86.0	87.0					4																	126411435		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411435G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13458G>T	4.37:g.126411435G>T						FAT4_uc011cgp.1_Silent_p.G2727G|FAT4_uc003ifi.1_Silent_p.G1963G	p.G4486G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13458	+			4486			Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13458G>T	CCDS3732.3																																																																																				PASS	0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		64	77	64	77	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156651265	156651265	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:156651265G>A	ENST00000296518.7	+	10	2164	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G652E|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G652E|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G652E|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G652E|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G394E			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	652					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G652E(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAATCCCCGGAATCTGCCAT	0.403																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1954-1956)GGA>GAA		guanylate cyclase 1, soluble, alpha 3 isoform A							90.0	93.0	92.0					4																	156651265		2203	4299	6502	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156651265G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1955G>A	4.37:g.156651265G>A	ENSP00000296518:p.Gly652Glu					GUCY1A3_uc003iow.2_Missense_Mutation_p.G652E|GUCY1A3_uc010iqd.2_Missense_Mutation_p.G651E|GUCY1A3_uc003iox.2_Missense_Mutation_p.G652E|GUCY1A3_uc003ioz.2_Missense_Mutation_p.G417E|GUCY1A3_uc003ioy.2_Missense_Mutation_p.G652E|GUCY1A3_uc010iqe.2_Missense_Mutation_p.G417E|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.G652E	p.G652E	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	11	2491	+	all_hematologic(180;0.24)	Renal(120;0.0854)	652					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1955G>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230484	0.95207	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84944	-1.84;-1.84;-1.84;-1.92;-1.84;-1.84	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000006	D	0.93697	0.7986	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93236	0.6622	10	0.66056	D	0.02	.	20.819	0.99723	0.0:0.0:1.0:0.0	.	652;652	B3KU69;Q02108	.;GCYA3_HUMAN	E	652;652;652;394;652;652	ENSP00000424361:G652E;ENSP00000421493:G652E;ENSP00000412201:G652E;ENSP00000377418:G394E;ENSP00000296518:G652E;ENSP00000426040:G652E	ENSP00000296518:G652E	G	+	2	0	GUCY1A3	156870715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.470000	0.97683	2.927000	0.99377	0.637000	0.83480	GGA		PASS	0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			23	136	23	136	---	---	---	---
LINC01098	285501	broad.mit.edu	37	4	178882052	178882052	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:178882052T>C	ENST00000507870.1	+	3	511	c.49T>C	c.(49-51)Tgg>Cgg	p.W17R															p.W17R(2)		lung(8)|prostate(1)	9						TTATGCAATCTGGAAAAAGTA	0.313																																						uc010iru.2																			2	Substitution - Missense(2)		lung(2)		0								Homo sapiens cDNA clone IMAGE:4828874.							123.0	122.0	122.0					4																	178882052		1801	4076	5877	SO:0001583	missense	285501							g.chr4:178882052T>C																												ENST00000507870.1:c.49T>C	4.37:g.178882052T>C	ENSP00000421352:p.Trp17Arg							NR_028342					all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)	3		+		all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)							RNA	SNP	ENST00000507870.1	37	c.515T>C		.	.	.	.	.	.	.	.	.	.	T	6.271	0.418138	0.11870	.	.	ENSG00000231171	ENST00000507870	T	0.16324	2.35	5.73	-0.0167	0.13971	.	.	.	.	.	T	0.10078	0.0247	.	.	.	0.19775	N	0.999955	.	.	.	.	.	.	T	0.35276	-0.9795	5	.	.	.	.	2.3247	0.04220	0.259:0.0728:0.1346:0.5337	.	.	.	.	R	17	ENSP00000421352:W17R	.	W	+	1	0	RP11-389E17.1	179119046	0.200000	0.23398	0.239000	0.24122	0.195000	0.23768	-0.204000	0.09425	0.048000	0.15891	0.482000	0.46254	TGG		PASS	0.313	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			76	81	76	81	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1422092	1422092	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:1422092C>T	ENST00000270349.9	-	5	818	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D231N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	231					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.D231N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCCAGGTCGTCGATGCCATGG	0.652																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(691-693)GAC>AAC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						71.0	68.0	69.0					5																	1422092		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422092C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.691G>A	5.37:g.1422092C>T	ENSP00000270349:p.Asp231Asn						p.D231N	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	812	-			231			Extracellular (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.691G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969917	0.34754	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74632	-0.86;-0.86;-0.86	4.4	4.4	0.53042	.	0.444859	0.23375	N	0.048873	T	0.60117	0.2244	L	0.28740	0.885	0.31558	N	0.657952	B	0.12630	0.006	B	0.13407	0.009	T	0.58255	-0.7668	10	0.20519	T	0.43	.	10.8508	0.46769	0.0:0.8079:0.1921:0.0	.	231	Q01959	SC6A3_HUMAN	N	231;231;157	ENSP00000270349:D231N;ENSP00000399806:D231N;ENSP00000429101:D157N	ENSP00000270349:D231N	D	-	1	0	SLC6A3	1475092	0.032000	0.19561	0.584000	0.28653	0.968000	0.65278	0.811000	0.27198	2.145000	0.66743	0.462000	0.41574	GAC		PASS	0.652	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		24	159	24	159	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14330959	14330959	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:14330959C>G	ENST00000344204.4	+	10	1828	c.1804C>G	c.(1804-1806)Cgg>Ggg	p.R602G	TRIO_ENST00000537187.1_Missense_Mutation_p.R602G|TRIO_ENST00000509967.2_Missense_Mutation_p.R553G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	602					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R602G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTCTTCATCGGGCCAGAGC	0.428																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1804-1806)CGG>GGG		triple functional domain (PTPRF interacting)							153.0	146.0	148.0					5																	14330959		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14330959C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1804C>G	5.37:g.14330959C>G	ENSP00000339299:p.Arg602Gly					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R553G|TRIO_uc003jfh.1_Missense_Mutation_p.R251G	p.R602G	NM_007118	NP_009049	O75962	TRIO_HUMAN			10	1810	+	Lung NSC(4;0.000742)		602			Spectrin 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1804C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797101	0.50208	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.49720	0.77;0.77;0.77	5.26	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.54323	1.7	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.81914	0.978;0.992;0.995	T	0.65664	-0.6113	10	0.72032	D	0.01	.	14.098	0.65037	0.2373:0.7627:0.0:0.0	.	553;602;602	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	G	602;602;553;289	ENSP00000339299:R602G;ENSP00000446348:R602G;ENSP00000445592:R553G	ENSP00000339299:R602G	R	+	1	2	TRIO	14383959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.711000	0.47177	2.459000	0.83118	0.655000	0.94253	CGG		PASS	0.428	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		36	216	36	216	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32088280	32088280	+	Missense_Mutation	SNP	G	G	A	rs138759971	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:32088280G>A	ENST00000438447.1	+	20	5114	c.4726G>A	c.(4726-4728)Ggc>Agc	p.G1576S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1576S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1576					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1576S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCCAGGGACGGCTGGTCCCC	0.557													G|||	9	0.00179712	0.0	0.0	5008	,	,		18542	0.0089		0.0	False		,,,				2504	0.0					uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4726-4728)GGC>AGC		PDZ domain containing 2		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	78.0	79.0	78.0		4726	1.2	0.0	5	dbSNP_134	78	0,8600		0,0,4300	yes	missense	PDZD2	NM_178140.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1576/2840	32088280	1,13005	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088280G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4726G>A	5.37:g.32088280G>A	ENSP00000402033:p.Gly1576Ser					PDZD2_uc003jhm.2_Missense_Mutation_p.G1576S	p.G1576S	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5114	+			1576					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4726G>A	CCDS34137.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.678	0.688430	0.14973	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.26957	1.7;1.7	5.24	1.2	0.21068	.	0.769978	0.12121	N	0.497673	T	0.05227	0.0139	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39583	-0.9607	10	0.07325	T	0.83	.	5.2768	0.15653	0.6833:0.1502:0.1665:0.0	.	1576	O15018	PDZD2_HUMAN	S	1576;1377;1576	ENSP00000402033:G1576S;ENSP00000282493:G1576S	ENSP00000282493:G1576S	G	+	1	0	PDZD2	32124037	0.000000	0.05858	0.026000	0.17262	0.775000	0.43874	0.316000	0.19469	0.010000	0.14839	-0.290000	0.09829	GGC		PASS	0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			31	196	31	196	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382419	41382419	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:41382419G>T	ENST00000377801.3	-	2	395	c.321C>A	c.(319-321)gaC>gaA	p.D107E	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D107E			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	107	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.D107E(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGAGTTCATTGTCGGGGTCTC	0.443																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(319-321)GAC>GAA		phosphatidylinositol-specific phospholipase C, X							85.0	87.0	87.0					5																	41382419		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382419G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.321C>A	5.37:g.41382419G>T	ENSP00000367032:p.Asp107Glu						p.D107E	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	423	-			107			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.321C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171279	0.38315	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.64085	-0.08;-0.08	6.07	3.36	0.38483	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.085244	0.85682	D	0.000000	T	0.43277	0.1240	N	0.20483	0.58	0.58432	D	0.999993	B	0.13594	0.008	B	0.15484	0.013	T	0.14035	-1.0487	10	0.24483	T	0.36	-12.9776	9.6694	0.40004	0.327:0.0:0.673:0.0	.	107	Q63HM9	PLCX3_HUMAN	E	107	ENSP00000367032:D107E;ENSP00000333751:D107E	ENSP00000333751:D107E	D	-	3	2	PLCXD3	41418176	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.734000	0.38166	0.459000	0.27016	-0.150000	0.13652	GAC		PASS	0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		57	132	57	132	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45645701	45645701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:45645701C>T	ENST00000303230.4	-	2	492	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	145					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.W145*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTATTAAATCCCAGTAAAACC	0.308																																						uc003jok.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(433-435)TGG>TGA		hyperpolarization activated cyclic							35.0	39.0	38.0					5																	45645701		2186	4224	6410	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645701C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.435G>A	5.37:g.45645701C>T	ENSP00000307342:p.Trp145*						p.W145*	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	460	-			145			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.435G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	36	5.886972	0.97068	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4939	0.90856	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000307342:W145X	W	-	3	0	HCN1	45681458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.369000	0.80426	0.555000	0.69702	TGG		PASS	0.308	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		40	107	40	107	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56177955	56177955	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:56177955C>T	ENST00000399503.3	+	14	2928	c.2928C>T	c.(2926-2928)tcC>tcT	p.S976S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	976					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S976S(1)|p.S813S(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTCATCATTCCCAATTAATGT	0.448																																						uc003jqw.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2926-2928)TCC>TCT		mitogen-activated protein kinase kinase kinase							138.0	133.0	134.0					5																	56177955		1908	4124	6032	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56177955C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2928C>T	5.37:g.56177955C>T							p.S976S	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3429	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	976						Silent	SNP	ENST00000399503.3	37	c.2928C>T	CCDS43318.1																																																																																				PASS	0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		6	133	6	133	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71491801	71491801	+	Silent	SNP	C	C	A	rs144157105	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:71491801C>A	ENST00000296755.7	+	5	2917	c.2619C>A	c.(2617-2619)gtC>gtA	p.V873V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	873					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.V873V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAGCCAGTCGAAGCCTACG	0.502																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2617-2619)GTC>GTA		microtubule-associated protein 1B							122.0	121.0	121.0					5																	71491801		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491801C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2619C>A	5.37:g.71491801C>A						MAP1B_uc010iyw.1_Silent_p.V890V|MAP1B_uc010iyx.1_Silent_p.V747V|MAP1B_uc010iyy.1_Silent_p.V747V	p.V873V	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2860	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	873					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.2619C>A	CCDS4012.1																																																																																				PASS	0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		112	42	112	42	---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72359685	72359685	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:72359685C>G	ENST00000430046.2	+	18	1479	c.1363C>G	c.(1363-1365)Ctt>Gtt	p.L455V	FCHO2_ENST00000341845.6_Missense_Mutation_p.L455V|FCHO2_ENST00000512348.1_Missense_Mutation_p.L422V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	455	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.L455V(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CACAACTCCTCTTTCTGTAGG	0.423																																						uc003kcl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1363-1365)CTT>GTT		FCH domain only 2 isoform a							72.0	71.0	71.0					5																	72359685		1867	4096	5963	SO:0001583	missense	115548							g.chr5:72359685C>G	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1363C>G	5.37:g.72359685C>G	ENSP00000393776:p.Leu455Val					FCHO2_uc011csl.1_Missense_Mutation_p.L422V|FCHO2_uc010izb.2_5'UTR|FCHO2_uc011csn.1_5'UTR	p.L455V	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	18	1479	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	455			Ser-rich.		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.1363C>G	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.760916	0.69763	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.38401	1.14;1.15;3.59	5.62	5.62	0.85841	.	0.225365	0.38272	N	0.001760	T	0.46541	0.1398	M	0.63843	1.955	0.50039	D	0.999841	D;P	0.61697	0.99;0.868	P;P	0.48627	0.584;0.525	T	0.30679	-0.9970	10	0.30078	T	0.28	-14.1897	19.6536	0.95828	0.0:1.0:0.0:0.0	.	422;455	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	V	455;455;422	ENSP00000393776:L455V;ENSP00000344034:L455V;ENSP00000427296:L422V	ENSP00000344034:L455V	L	+	1	0	FCHO2	72395441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.058000	0.76676	2.637000	0.89404	0.650000	0.86243	CTT		PASS	0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		7	18	7	18	---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80639988	80639988	+	Missense_Mutation	SNP	C	C	T	rs377749793		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:80639988C>T	ENST00000307624.3	-	9	999	c.971G>A	c.(970-972)cGc>cAc	p.R324H	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	324					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R324H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CCTGCCTAGGCGAATTCGCTT	0.368																																						uc003khl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(970-972)CGC>CAC		acyl-CoA thioesterase 12		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	70.0	69.0		971	5.4	1.0	5		69	0,8600		0,0,4300	no	missense	ACOT12	NM_130767.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	324/556	80639988	1,13005	2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80639988C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.971G>A	5.37:g.80639988C>T	ENSP00000303246:p.Arg324His					RNU5E_uc011cto.1_Intron	p.R324H	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	9	1026	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	324					B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.971G>A	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758898	0.89843	2.27E-4	0.0	ENSG00000172497	ENST00000307624	T	0.37235	1.21	5.45	5.45	0.79879	.	0.062472	0.64402	D	0.000009	T	0.68118	0.2966	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.75431	-0.3320	10	0.87932	D	0	-14.9562	16.5697	0.84608	0.0:1.0:0.0:0.0	.	324	Q8WYK0	ACO12_HUMAN	H	324	ENSP00000303246:R324H	ENSP00000303246:R324H	R	-	2	0	ACOT12	80675744	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	6.007000	0.70731	2.725000	0.93324	0.655000	0.94253	CGC		PASS	0.368	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		34	44	34	44	---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	311944	311944	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:311944T>G	ENST00000344450.5	+	3	563	c.120T>G	c.(118-120)agT>agG	p.S40R	DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.S40R|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605035.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	40					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S40R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCACGATAGTGCCAGGCCTA	0.498																																						uc003msx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(118-120)AGT>AGG		dual specificity phosphatase 22							167.0	128.0	141.0					6																	311944		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:311944T>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.120T>G	6.37:g.311944T>G	ENSP00000345281:p.Ser40Arg					DUSP22_uc011dhn.1_Missense_Mutation_p.S40R|DUSP22_uc003msy.1_5'UTR	p.S40R	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	559	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	40					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.120T>G	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923471	0.52653	.	.	ENSG00000112679	ENST00000344450	D	0.85955	-2.05	5.99	-1.9	0.07665	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.063071	0.64402	D	0.000004	T	0.67534	0.2903	L	0.55213	1.73	0.43300	D	0.995295	B;B	0.14012	0.003;0.009	B;B	0.15484	0.013;0.011	T	0.56353	-0.7993	10	0.48119	T	0.1	.	10.6254	0.45504	0.0:0.5139:0.0:0.4861	.	40;40	Q9NRW4-2;Q9NRW4	.;DUS22_HUMAN	R	40	ENSP00000345281:S40R	ENSP00000345281:S40R	S	+	3	2	DUSP22	256944	1.000000	0.71417	0.715000	0.30552	0.960000	0.62799	0.311000	0.19380	-0.560000	0.06102	-0.250000	0.11733	AGT		PASS	0.498	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		26	43	26	43	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11190802	11190802	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:11190802C>A	ENST00000379446.5	-	5	1466	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.D434Y	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	434					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.D434Y(3)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CACCGCCAGTCGGTAGTGACC	0.517																																						uc003mzv.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1300-1302)GAC>TAC		neural precursor cell expressed, developmentally							68.0	66.0	67.0					6																	11190802		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190802C>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1300G>T	6.37:g.11190802C>A	ENSP00000368759:p.Asp434Tyr					NEDD9_uc010joz.2_Missense_Mutation_p.D434Y|NEDD9_uc003mzw.3_Missense_Mutation_p.D288Y	p.D434Y	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1467	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	434					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.1300G>T	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507599	0.44558	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.23348	1.91;1.91	5.92	5.92	0.95590	Serine rich protein interaction (1);	0.169044	0.64402	D	0.000004	T	0.41880	0.1178	L	0.60455	1.87	0.80722	D	1	P;P;D	0.59357	0.932;0.741;0.985	P;P;D	0.64877	0.643;0.654;0.93	T	0.14476	-1.0471	10	0.66056	D	0.02	-29.6768	20.3248	0.98698	0.0:1.0:0.0:0.0	.	434;434;434	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	Y	434	ENSP00000368759:D434Y;ENSP00000422871:D434Y	ENSP00000368759:D434Y	D	-	1	0	NEDD9	11298788	0.999000	0.42202	0.969000	0.41365	0.225000	0.24961	3.878000	0.56130	2.818000	0.97014	0.655000	0.94253	GAC		PASS	0.517	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		4	98	4	98	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327373	28327373	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:28327373G>C	ENST00000377255.3	+	3	307	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E4Q|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	4					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E4Q(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GATGGCTAGAGAATTAAGTGA	0.493																																						uc003nle.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(10-12)GAA>CAA		zinc finger with KRAB and SCAN domains 3							68.0	68.0	68.0					6																	28327373		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327373G>C	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.10G>C	6.37:g.28327373G>C	ENSP00000366465:p.Glu4Gln					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.E4Q|ZKSCAN3_uc003nlf.3_Intron	p.E4Q	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	226	+			4					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.10G>C	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	17.47	3.398266	0.62177	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.05649	3.41;3.41	3.83	2.94	0.34122	.	.	.	.	.	T	0.04318	0.0119	L	0.27053	0.805	0.58432	D	0.999999	D	0.63880	0.993	P	0.53266	0.722	T	0.48581	-0.9023	9	0.45353	T	0.12	.	12.4338	0.55588	0.0:0.1716:0.8284:0.0	.	4	Q9BRR0	ZKSC3_HUMAN	Q	4	ENSP00000252211:E4Q;ENSP00000366465:E4Q	ENSP00000252211:E4Q	E	+	1	0	ZKSCAN3	28435352	0.177000	0.23109	0.546000	0.28166	0.146000	0.21551	0.965000	0.29319	0.923000	0.37045	0.557000	0.71058	GAA		PASS	0.493	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		40	44	40	44	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32163314	32163314	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:32163314C>A	ENST00000375023.3	-	30	6050	c.5912G>T	c.(5911-5913)tGc>tTc	p.C1971F	GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1971					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C1971F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGAGTAAGGCAAGGAGGCGG	0.607																																						uc003obb.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5911-5913)TGC>TTC		notch4 preproprotein							93.0	103.0	100.0					6																	32163314		1509	2708	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163314C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5912G>T	6.37:g.32163314C>A	ENSP00000364163:p.Cys1971Phe					GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.C631F|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.C1971F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			30	6051	-			1971			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5912G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629857	0.28978	.	.	ENSG00000204301	ENST00000375023	T	0.80824	-1.42	4.92	4.05	0.47172	.	0.140028	0.33290	N	0.005080	T	0.50343	0.1610	N	0.24115	0.695	0.80722	D	1	B;P	0.36616	0.08;0.561	B;B	0.27262	0.033;0.078	T	0.62091	-0.6927	10	0.72032	D	0.01	.	9.4262	0.38581	0.0:0.9028:0.0:0.0972	.	1971;1970	Q99466;B0S882	NOTC4_HUMAN;.	F	1971	ENSP00000364163:C1971F	ENSP00000364163:C1971F	C	-	2	0	NOTCH4	32271292	0.984000	0.35163	0.936000	0.37596	0.075000	0.17131	0.829000	0.27449	1.430000	0.47334	0.650000	0.86243	TGC		PASS	0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			87	28	87	28	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172777	43172777	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:43172777G>C	ENST00000252050.4	+	23	4640	c.4556G>C	c.(4555-4557)cGg>cCg	p.R1519P	CUL9_ENST00000372647.2_Missense_Mutation_p.R1519P|CUL9_ENST00000354495.3_Missense_Mutation_p.R1409P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1519					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R1519P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGGGCCTCGGGCAGCCTTC	0.602																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(4555-4557)CGG>CCG		p53-associated parkin-like cytoplasmic protein							65.0	69.0	67.0					6																	43172777		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172777G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4556G>C	6.37:g.43172777G>C	ENSP00000252050:p.Arg1519Pro					CUL9_uc003oul.2_Missense_Mutation_p.R1519P|CUL9_uc010jyk.2_Missense_Mutation_p.R671P	p.R1519P	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			23	4631	+			1519					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4556G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284818	0.80803	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74632	-0.86;-0.86;-0.86	5.07	5.07	0.68467	Cullin, N-terminal (1);	0.220938	0.40728	N	0.001025	T	0.74543	0.3730	L	0.50333	1.59	0.43588	D	0.995934	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.98;0.992;0.992	T	0.78674	-0.2112	10	0.87932	D	0	-25.0563	6.6071	0.22731	0.2249:0.0:0.7751:0.0	.	1409;1519;1519	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	P	1519;1409;1519	ENSP00000252050:R1519P;ENSP00000346490:R1409P;ENSP00000361730:R1519P	ENSP00000252050:R1519P	R	+	2	0	CUL9	43280755	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.219000	0.58561	2.376000	0.81061	0.462000	0.41574	CGG		PASS	0.602	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		20	75	20	75	---	---	---	---
SLC22A7	10864	broad.mit.edu	37	6	43266473	43266473	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:43266473C>A	ENST00000372585.5	+	1	472	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.S126Y|SLC22A7_ENST00000372589.3_Missense_Mutation_p.S126Y	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	126					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.S126Y(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAATTCTCCTCTACCATTGCA	0.547																																						uc003out.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)TCT>TAT		solute carrier family 22 member 7 isoform b							61.0	64.0	63.0					6																	43266473		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266473C>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.377C>A	6.37:g.43266473C>A	ENSP00000361666:p.Ser126Tyr					SLC22A7_uc010jyl.1_Missense_Mutation_p.S126Y|SLC22A7_uc003ous.2_Missense_Mutation_p.S126Y	p.S126Y	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	476	+			126					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.377C>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870065	0.72065	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;D;D;D	0.82167	0.49;-1.58;-1.58;-1.58	5.63	5.63	0.86233	Major facilitator superfamily domain (1);	0.117665	0.64402	D	0.000011	D	0.92883	0.7736	M	0.93550	3.43	0.42720	D	0.993674	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.94249	0.7492	10	0.87932	D	0	.	17.1656	0.86814	0.0:1.0:0.0:0.0	.	126;126;126	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Y	126	ENSP00000411818:S126Y;ENSP00000361670:S126Y;ENSP00000361666:S126Y;ENSP00000361655:S126Y	ENSP00000361655:S126Y	S	+	2	0	SLC22A7	43374451	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.083000	0.71326	2.653000	0.90120	0.563000	0.77884	TCT		PASS	0.547	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			4	73	4	73	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43970796	43970796	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:43970796G>T	ENST00000336600.5	+	4	682	c.662G>T	c.(661-663)cGc>cTc	p.R221L	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Missense_Mutation_p.R201L|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	221								p.R221L(1)		central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGCTAATGCGCTCTAATTAC	0.637																																						uc003own.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)CGC>CTC		hypothetical protein LOC221416							24.0	31.0	29.0					6																	43970796		2202	4294	6496	SO:0001583	missense	221416							g.chr6:43970796G>T	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.662G>T	6.37:g.43970796G>T	ENSP00000426159:p.Arg221Leu					uc003owm.1_Intron|C6orf223_uc003owo.2_Missense_Mutation_p.R201L	p.R221L	NM_153246	NP_694978	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	680	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		221					E9PB59|Q8N575	Missense_Mutation	SNP	ENST00000336600.5	37	c.662G>T	CCDS34459.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093601	0.36952	.	.	ENSG00000181577	ENST00000336600	T	0.39787	1.06	3.26	1.34	0.21922	.	0.205916	0.24638	N	0.036836	T	0.09555	0.0235	N	0.08118	0	0.80722	D	1	B	0.24132	0.098	B	0.21546	0.035	T	0.08848	-1.0702	10	0.87932	D	0	.	7.7741	0.29026	0.0:0.0:0.546:0.454	.	221	Q8N319	CF223_HUMAN	L	221	ENSP00000426159:R221L	ENSP00000426159:R221L	R	+	2	0	C6orf223	44078774	0.518000	0.26234	1.000000	0.80357	0.995000	0.86356	0.650000	0.24858	0.357000	0.24183	0.491000	0.48974	CGC		PASS	0.637	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		65	23	65	23	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45514801	45514801	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:45514801C>G	ENST00000371438.1	+	8	1683	c.1325C>G	c.(1324-1326)aCt>aGt	p.T442S	RUNX2_ENST00000541979.1_Missense_Mutation_p.T488S|RUNX2_ENST00000371436.6_Missense_Mutation_p.T420S|RUNX2_ENST00000359524.5_Missense_Mutation_p.T428S|RUNX2_ENST00000371432.3_Missense_Mutation_p.T406S|RUNX2_ENST00000352853.5_Missense_Mutation_p.T510S|RUNX2_ENST00000465038.2_Missense_Mutation_p.T442S|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	442	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T510S(1)|p.T442S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACCAGCAGCACTCCATATCTC	0.592																																						uc011dvx.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1324-1326)ACT>AGT		runt-related transcription factor 2 isoform a							123.0	104.0	111.0					6																	45514801		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514801C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1325C>G	6.37:g.45514801C>G	ENSP00000360493:p.Thr442Ser					RUNX2_uc011dvy.1_Missense_Mutation_p.T420S|RUNX2_uc003oxt.2_Missense_Mutation_p.T428S	p.T442S	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			9	1535	+			442			Pro/Ser/Thr-rich.|Interaction with MYST4.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1325C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560683	0.27827	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	N	0.04636	-0.2	0.80722	D	1	B;P;P	0.38223	0.14;0.623;0.504	B;B;B	0.42882	0.076;0.401;0.269	T	0.13019	-1.0525	10	0.07990	T	0.79	-7.2279	20.3627	0.98863	0.0:1.0:0.0:0.0	.	488;442;428	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	S	442;510;488;442;420;428;406	ENSP00000420707:T442S;ENSP00000319087:T510S;ENSP00000446290:T488S;ENSP00000360493:T442S;ENSP00000360491:T420S;ENSP00000352514:T428S;ENSP00000360486:T406S	ENSP00000319087:T510S	T	+	2	0	RUNX2	45622779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.252000	0.78309	2.885000	0.99019	0.655000	0.94253	ACT		PASS	0.592	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		11	55	11	55	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66063410	66063410	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:66063410C>A	ENST00000370621.3	-	9	1926	c.1400G>T	c.(1399-1401)gGt>gTt	p.G467V	EYS_ENST00000370618.3_Missense_Mutation_p.G467V|EYS_ENST00000393380.2_Missense_Mutation_p.G467V|EYS_ENST00000370616.2_Missense_Mutation_p.G467V|EYS_ENST00000342421.5_Missense_Mutation_p.G467V|EYS_ENST00000503581.1_Missense_Mutation_p.G467V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	467					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G467V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGGCAAATACCATGGAAGGT	0.363																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1399-1401)GGT>GTT		eyes shut homolog isoform 1							113.0	103.0	107.0					6																	66063410		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063410C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1400G>T	6.37:g.66063410C>A	ENSP00000359655:p.Gly467Val					EYS_uc003peq.2_Missense_Mutation_p.G467V|EYS_uc003per.1_Missense_Mutation_p.G467V	p.G467V	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			9	1938	-			467					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1400G>T		.	.	.	.	.	.	.	.	.	.	c	9.494	1.101481	0.20632	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	3.83	1.36	0.22044	.	.	.	.	.	T	0.55257	0.1909	N	0.14661	0.345	0.09310	N	1	P;P;P	0.47677	0.899;0.799;0.697	B;B;B	0.41813	0.367;0.367;0.202	T	0.51663	-0.8677	9	0.56958	D	0.05	.	5.9175	0.19063	0.0:0.2395:0.0:0.7605	.	467;467;467	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	467	ENSP00000424243:G467V;ENSP00000359655:G467V;ENSP00000359650:G467V;ENSP00000377042:G467V;ENSP00000341818:G467V;ENSP00000359652:G467V	ENSP00000341818:G467V	G	-	2	0	EYS	66120131	0.004000	0.15560	0.001000	0.08648	0.230000	0.25150	0.658000	0.24979	-0.008000	0.14320	-0.469000	0.05056	GGT		PASS	0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		20	50	20	50	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70637829	70637829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:70637829G>T	ENST00000322773.4	+	5	397	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	99	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E99*(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTTCCTGAGGAGTACTCAGT	0.413																																						uc003pfc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)	4						c.(295-297)GAG>TAG		alpha 1 type XIX collagen precursor							126.0	126.0	126.0					6																	70637829		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637829G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.295G>T	6.37:g.70637829G>T	ENSP00000316030:p.Glu99*					COL19A1_uc010kam.1_5'UTR	p.E99*	NM_001858	NP_001849	Q14993	COJA1_HUMAN			5	412	+			99			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.295G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	36	5.768253	0.96914	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8644	0.96799	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000316030:E99X	E	+	1	0	COL19A1	70694550	1.000000	0.71417	0.996000	0.52242	0.470000	0.32858	7.393000	0.79851	2.691000	0.91804	0.655000	0.94253	GAG		PASS	0.413	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			54	80	54	80	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75893694	75893694	+	Silent	SNP	C	C	T	rs373522815		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:75893694C>T	ENST00000322507.8	-	9	1473	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	COL12A1_ENST00000483888.2_Silent_p.T388T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T388T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	388	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T388T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAACACTGAGCGTGGTTGTCT	0.512																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1162-1164)ACG>ACA		collagen, type XII, alpha 1 long isoform		C	,	0,4044		0,0,2022	143.0	139.0	140.0		1164,	-3.6	0.0	6		140	1,8367		0,1,4183	no	coding-synonymous,intron	COL12A1	NM_004370.5,NM_080645.2	,	0,1,6205	TT,TC,CC		0.012,0.0,0.0081	,	388/3064,	75893694	1,12411	2022	4184	6206	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893694C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1164G>A	6.37:g.75893694C>T						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.T46T	p.T388T	NM_004370	NP_004361	Q99715	COCA1_HUMAN			9	1330	-			388			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1164G>A	CCDS43482.1																																																																																				PASS	0.512	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	138	6	138	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86159901	86159901	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:86159901C>A	ENST00000257770.3	+	1	93	c.44C>A	c.(43-45)gCc>gAc	p.A15D	NT5E_ENST00000369651.3_Missense_Mutation_p.A15D|NT5E_ENST00000369646.3_Missense_Mutation_p.A15D	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	15					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A15D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTACTCCTCGCCCTGGGCGCG	0.711																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(43-45)GCC>GAC		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						6.0	8.0	7.0					6																	86159901		2011	4001	6012	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86159901C>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.44C>A	6.37:g.86159901C>A	ENSP00000257770:p.Ala15Asp					NT5E_uc003pkn.2_Missense_Mutation_p.A15D|NT5E_uc010kbr.2_Missense_Mutation_p.A15D	p.A15D	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	1	600	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	15					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.44C>A	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068056	0.36470	.	.	ENSG00000135318	ENST00000257770;ENST00000369646;ENST00000369651	T;T	0.57436	0.42;0.4	4.0	1.78	0.24846	.	1.226420	0.05729	N	0.599202	T	0.22704	0.0548	L	0.57536	1.79	0.09310	N	1	B;B;B	0.26400	0.148;0.148;0.037	B;B;B	0.23574	0.047;0.047;0.013	T	0.17776	-1.0358	10	0.17832	T	0.49	-3.8946	4.431	0.11527	0.0:0.5067:0.0:0.4933	.	15;15;15	B3KQI8;P21589;Q96B60	.;5NTD_HUMAN;.	D	15	ENSP00000257770:A15D;ENSP00000358665:A15D	ENSP00000257770:A15D	A	+	2	0	NT5E	86216620	0.112000	0.22096	0.001000	0.08648	0.001000	0.01503	1.792000	0.38754	0.667000	0.31107	-0.657000	0.03884	GCC		PASS	0.711	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			15	7	15	7	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062541	100062541	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:100062541G>T	ENST00000369215.4	+	4	2335	c.2030G>T	c.(2029-2031)gGg>gTg	p.G677V		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	677					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G677V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGGAGCCTGGGGATCCCAAG	0.687																																						uc003pqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2029-2031)GGG>GTG		PR domain containing 13							21.0	24.0	23.0					6																	100062541		1769	3852	5621	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062541G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2030G>T	6.37:g.100062541G>T	ENSP00000358217:p.Gly677Val						p.G677V	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2291	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	677					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.2030G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300831	0.40694	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06849	3.25;3.25	5.27	5.27	0.74061	.	0.346182	0.20916	N	0.083376	T	0.02533	0.0077	L	0.27053	0.805	0.42183	D	0.991691	P	0.35433	0.501	B	0.27500	0.08	T	0.35919	-0.9769	10	0.87932	D	0	-15.068	9.349	0.38126	0.0756:0.2579:0.6665:0.0	.	677	Q9H4Q3	PRD13_HUMAN	V	677;687	ENSP00000358217:G677V;ENSP00000358216:G687V	ENSP00000358216:G687V	G	+	2	0	PRDM13	100169262	0.995000	0.38212	0.705000	0.30386	0.882000	0.50991	2.322000	0.43814	2.748000	0.94277	0.655000	0.94253	GGG		PASS	0.687	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			15	35	15	35	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062564	100062564	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:100062564G>T	ENST00000369215.4	+	4	2358	c.2053G>T	c.(2053-2055)Gac>Tac	p.D685Y		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D685Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGACGACAGTGACGTGGACGT	0.706																																						uc003pqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2053-2055)GAC>TAC		PR domain containing 13							27.0	30.0	29.0					6																	100062564		1745	3846	5591	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062564G>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2053G>T	6.37:g.100062564G>T	ENSP00000358217:p.Asp685Tyr						p.D685Y	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2314	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	685					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.2053G>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713674	0.89112	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.07688	3.17;3.17	5.8	5.8	0.92144	.	0.000000	0.43747	D	0.000523	T	0.14227	0.0344	L	0.29908	0.895	0.58432	D	0.999991	D	0.89917	1.0	D	0.72625	0.978	T	0.03957	-1.0989	10	0.72032	D	0.01	-34.8029	20.0545	0.97645	0.0:0.0:1.0:0.0	.	685	Q9H4Q3	PRD13_HUMAN	Y	685;695	ENSP00000358217:D685Y;ENSP00000358216:D695Y	ENSP00000358216:D695Y	D	+	1	0	PRDM13	100169285	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.817000	0.99352	2.748000	0.94277	0.655000	0.94253	GAC		PASS	0.706	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			19	45	19	45	---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114379015	114379015	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:114379015C>T	ENST00000312719.5	-	5	1635	c.447G>A	c.(445-447)caG>caA	p.Q149Q	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.Q149Q|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	149					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.Q149Q(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTGTGATTTGCTGAGGGTAGG	0.368																																						uc003pwg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(445-447)CAG>CAA		heparan sulfate (glucosamine)							128.0	131.0	130.0					6																	114379015		2202	4300	6502	SO:0001819	synonymous_variant	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379015C>T	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.447G>A	6.37:g.114379015C>T						uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.Q149Q	p.Q149Q	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	479	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	149			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.447G>A	CCDS34517.1																																																																																				PASS	0.368	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		94	96	94	96	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161969933	161969933	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:161969933C>T	ENST00000366898.1	-	9	1138	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	PARK2_ENST00000366897.1_Missense_Mutation_p.D318N|PARK2_ENST00000366894.1_Missense_Mutation_p.D155N|PARK2_ENST00000338468.3_Missense_Mutation_p.D155N|PARK2_ENST00000366892.1_Missense_Mutation_p.D346N|PARK2_ENST00000366896.1_Missense_Mutation_p.D197N	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	346					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.D346N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTCCTCTGGTCAGGCTCCGGC	0.632																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1036-1038)GAC>AAC		parkin isoform 1							66.0	69.0	68.0					6																	161969933		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969933C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1036G>A	6.37:g.161969933C>T	ENSP00000355865:p.Asp346Asn					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D155N|PARK2_uc003qtw.3_Missense_Mutation_p.D155N|PARK2_uc003qty.3_Missense_Mutation_p.D318N|PARK2_uc003qtz.3_Missense_Mutation_p.D197N|PARK2_uc010kke.1_Missense_Mutation_p.D365N|PARK2_uc011egf.1_Missense_Mutation_p.D20N	p.D346N	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1170	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	346			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1036G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922022	0.33908	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	T;T;T;T;T;D	0.89050	-0.03;-0.03;-0.03;-0.03;-0.03;-2.46	5.72	2.99	0.34606	Zinc finger, C6HC-type (2);	0.477764	0.22155	N	0.063868	T	0.78591	0.4307	L	0.41824	1.3	0.09310	N	1	P;B;B;P;B	0.43352	0.804;0.012;0.255;0.802;0.408	B;B;B;P;B	0.48270	0.295;0.023;0.154;0.572;0.243	T	0.70572	-0.4835	10	0.44086	T	0.13	.	8.0138	0.30368	0.0:0.7319:0.1296:0.1386	.	365;197;318;346;155	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	N	346;318;197;155;155;155;346	ENSP00000355865:D346N;ENSP00000355863:D318N;ENSP00000355862:D197N;ENSP00000355860:D155N;ENSP00000343589:D155N;ENSP00000355858:D346N	ENSP00000343589:D155N	D	-	1	0	PARK2	161889923	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.535000	0.36061	0.341000	0.23771	0.650000	0.86243	GAC		PASS	0.632	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			5	115	5	115	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170592599	170592599	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr6:170592599T>A	ENST00000366756.3	-	9	2101	c.1768A>T	c.(1768-1770)Atg>Ttg	p.M590L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	590					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.M590L(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTTGTTCATGGTCTCCGTC	0.642																																						uc003qxm.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1768-1770)ATG>TTG		delta-like 1 precursor							135.0	123.0	127.0					6																	170592599		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592599T>A	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1768A>T	6.37:g.170592599T>A	ENSP00000355718:p.Met590Leu						p.M590L	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2238	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	590			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1768A>T	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674778	0.88445	.	.	ENSG00000198719	ENST00000366756	D	0.85556	-2.0	5.38	5.38	0.77491	.	0.035050	0.85682	D	0.000000	D	0.82628	0.5078	M	0.82630	2.6	0.58432	D	0.999999	B	0.21688	0.059	B	0.25291	0.059	T	0.83144	-0.0107	10	0.62326	D	0.03	.	15.691	0.77453	0.0:0.0:0.0:1.0	.	590	O00548	DLL1_HUMAN	L	590	ENSP00000355718:M590L	ENSP00000355718:M590L	M	-	1	0	DLL1	170434524	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.920000	0.87521	2.172000	0.68678	0.533000	0.62120	ATG		PASS	0.642	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			25	80	25	80	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1542595	1542595	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:1542595C>T	ENST00000404767.3	-	3	376	c.291G>A	c.(289-291)gtG>gtA	p.V97V	INTS1_ENST00000389470.4_Silent_p.V225V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	97					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.V225V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTTTTTCTGCCACTGCAGCCT	0.592																																						uc003skn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)GTG>GTA		integrator complex subunit 1							83.0	93.0	90.0					7																	1542595		1984	4172	6156	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542595C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.291G>A	7.37:g.1542595C>T						INTS1_uc003skq.2_Silent_p.V97V	p.V97V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	3	392	-		Ovarian(82;0.0253)	97					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.291G>A	CCDS47526.1																																																																																				PASS	0.592	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			83	74	83	74	---	---	---	---
FBXL18	80028	broad.mit.edu	37	7	5540481	5540481	+	Silent	SNP	G	G	A	rs560947191		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:5540481G>A	ENST00000382368.3	-	3	1542	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	FBXL18_ENST00000453700.3_Silent_p.S473S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	473								p.S473S(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ACCAGAACACGGAGGAGGGCT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		12961	0.001		0.0	False		,,,				2504	0.0					uc003soo.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1417-1419)TCC>TCT		F-box and leucine-rich repeat protein 18							13.0	15.0	14.0					7																	5540481		2012	4063	6075	SO:0001819	synonymous_variant	80028							g.chr7:5540481G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1419C>T	7.37:g.5540481G>A						FBXL18_uc003son.3_Silent_p.S473S	p.S473S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1513	-		Ovarian(82;0.0607)	473			LRR 8.		Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.1419C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.065|1.065	-0.671823|-0.671823	0.03403|0.03403	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000297035	.|.	.|.	.|.	5.26|5.26	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|T	0.47060|0.47060	0.1425|0.1425	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61768|0.61768	-0.6995|-0.6995	4|5	.|0.87932	.|D	.|0	.|.	1.7487|1.7487	0.02967|0.02967	0.2504:0.2272:0.3568:0.1655|0.2504:0.2272:0.3568:0.1655	.|.	.|.	.|.	.|.	L|C	357|33	.|.	.|ENSP00000297035:R33C	P|R	-|-	2|1	0|0	FBXL18|FBXL18	5507007|5507007	0.001000|0.001000	0.12720|0.12720	0.557000|0.557000	0.28306|0.28306	0.504000|0.504000	0.33889|0.33889	-2.113000|-2.113000	0.01331|0.01331	-1.639000|-1.639000	0.01527|0.01527	-1.377000|-1.377000	0.01181|0.01181	CCG|CGT		PASS	0.657	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		16	13	16	13	---	---	---	---
RP9	6100	broad.mit.edu	37	7	33139017	33139017	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:33139017G>C	ENST00000297157.3	-	3	232	c.215C>G	c.(214-216)cCa>cGa	p.P72R		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	72	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P72R(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TGGTACATCTGGTATGCAATC	0.483																																						uc003tdm.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(214-216)CCA>CGA		retinitis pigmentosa 9							157.0	142.0	147.0					7																	33139017		2203	4300	6503	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33139017G>C	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.215C>G	7.37:g.33139017G>C	ENSP00000297157:p.Pro72Arg						p.P72R	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		3	233	-			72			PIM1-binding (By similarity).			Missense_Mutation	SNP	ENST00000297157.3	37	c.215C>G	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243312	0.79912	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	T;D	0.85484	-1.2;-1.99	3.43	3.43	0.39272	.	0.000000	0.85682	U	0.000000	D	0.90027	0.6886	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91308	0.5072	10	0.66056	D	0.02	-35.7261	15.7391	0.77870	0.0:0.0:1.0:0.0	.	72	Q8TA86	RP9_HUMAN	R	72;38	ENSP00000297157:P72R;ENSP00000411577:P38R	ENSP00000297157:P72R	P	-	2	0	RP9	33105542	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.918000	0.92759	1.862000	0.54008	0.563000	0.77884	CCA		PASS	0.483	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		5	144	5	144	---	---	---	---
YAE1D1	57002	broad.mit.edu	37	7	39612040	39612040	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:39612040A>T	ENST00000223273.2	+	3	459	c.416A>T	c.(415-417)gAt>gTt	p.D139V	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	139								p.D139V(1)									TCCATTGAGGATATGGACCTT	0.398																																						uc003thc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAT>GTT		hypothetical protein LOC57002							140.0	130.0	134.0					7																	39612040		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612040A>T	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.416A>T	7.37:g.39612040A>T	ENSP00000223273:p.Asp139Val						p.D139V	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			3	425	+			139					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.416A>T	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743890	0.69418	.	.	ENSG00000241127	ENST00000223273	T	0.55760	0.5	5.93	4.79	0.61399	.	0.232471	0.49305	D	0.000160	T	0.52901	0.1763	M	0.72894	2.215	0.80722	D	1	P	0.43477	0.808	B	0.43508	0.422	T	0.56866	-0.7908	10	0.87932	D	0	-2.428	7.2431	0.26107	0.7814:0.1456:0.073:0.0	.	139	Q9NRH1	CG036_HUMAN	V	139	ENSP00000223273:D139V	ENSP00000223273:D139V	D	+	2	0	C7orf36	39578565	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	4.686000	0.61700	1.086000	0.41228	0.533000	0.62120	GAT		PASS	0.398	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		40	112	40	112	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47886477	47886477	+	Splice_Site	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:47886477C>A	ENST00000289672.2	-	32	5203	c.5153G>T	c.(5152-5154)aGc>aTc	p.S1718I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1718	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S1718I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGTCTATACCTGCAGTTCAC	0.448																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5152-5154)AGC>ATC		polycystin-1L1							82.0	77.0	79.0					7																	47886477		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47886477C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5153+1G>T	7.37:g.47886477C>A							p.S1718I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			32	5153	-			1718			Extracellular (Potential).|GPS.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5153G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709057	0.68615	.	.	ENSG00000158683	ENST00000289672	T	0.20738	2.05	4.54	4.54	0.55810	.	0.129994	0.45867	D	0.000328	T	0.31199	0.0789	L	0.27053	0.805	0.37873	D	0.930119	D	0.89917	1.0	D	0.71414	0.973	T	0.10268	-1.0637	9	.	.	.	-19.6116	14.8008	0.69913	0.0:1.0:0.0:0.0	.	1718	Q8TDX9	PK1L1_HUMAN	I	1718	ENSP00000289672:S1718I	.	S	-	2	0	PKD1L1	47853002	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.280000	0.58959	2.339000	0.79563	0.563000	0.77884	AGC		PASS	0.448	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Missense_Mutation	14	71	14	71	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91851289	91851289	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:91851289A>T	ENST00000340022.2	-	14	2508	c.1490T>A	c.(1489-1491)cTg>cAg	p.L497Q	KRIT1_ENST00000394505.2_Missense_Mutation_p.L497Q|KRIT1_ENST00000394507.1_Missense_Mutation_p.L497Q|KRIT1_ENST00000412043.2_Missense_Mutation_p.L497Q|KRIT1_ENST00000394503.2_Missense_Mutation_p.L449Q	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	497	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.L497Q(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGAGGATCCAGATTAGTCAA	0.383																																						uc003ulq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1489-1491)CTG>CAG		krev interaction trapped 1 isoform 1							102.0	100.0	100.0					7																	91851289		2203	4300	6503	SO:0001583	missense	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91851289A>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1490T>A	7.37:g.91851289A>T	ENSP00000344668:p.Leu497Gln					KRIT1_uc010lev.1_Missense_Mutation_p.L254Q|KRIT1_uc003ulr.1_Missense_Mutation_p.L497Q|KRIT1_uc003uls.1_Missense_Mutation_p.L497Q|KRIT1_uc003ult.1_Missense_Mutation_p.L449Q|KRIT1_uc003ulu.1_Missense_Mutation_p.L497Q|KRIT1_uc003ulv.1_Missense_Mutation_p.L497Q	p.L497Q	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		12	1661	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		497			Required for RAP1A binding.|FERM.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1490T>A	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.031672	0.75504	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.70631	0.98;0.98;0.98;0.98;-0.5	5.62	5.62	0.85841	Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	T	0.79125	0.4393	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.991;0.956;0.991	T	0.76471	-0.2947	10	0.29301	T	0.29	-21.4379	15.8123	0.78573	1.0:0.0:0.0:0.0	.	497;449;497	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	Q	497;497;497;497;449;497	ENSP00000378015:L497Q;ENSP00000344668:L497Q;ENSP00000410909:L497Q;ENSP00000378013:L497Q;ENSP00000378011:L449Q	ENSP00000344668:L497Q	L	-	2	0	KRIT1	91689225	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.721000	0.91446	2.140000	0.66376	0.386000	0.25728	CTG		PASS	0.383	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			52	72	52	72	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97800938	97800938	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:97800938A>T	ENST00000297293.5	+	7	1036	c.743A>T	c.(742-744)gAg>gTg	p.E248V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.E248V(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ATGGCGTGCGAGGTCGCCGCG	0.667																																						uc003upd.1																			2	Substitution - Missense(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(742-744)GAG>GTG		lemur tyrosine kinase 2 precursor							41.0	41.0	41.0					7																	97800938		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97800938A>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.743A>T	7.37:g.97800938A>T	ENSP00000297293:p.Glu248Val						p.E248V	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			7	1036	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		248			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.743A>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649432	0.67358	.	.	ENSG00000164715	ENST00000297293	T	0.64438	-0.1	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048675	0.85682	D	0.000000	T	0.81273	0.4788	M	0.88979	2.995	0.49915	D	0.99983	D	0.89917	1.0	D	0.80764	0.994	D	0.85013	0.0907	10	0.87932	D	0	.	13.129	0.59371	1.0:0.0:0.0:0.0	.	248	Q8IWU2	LMTK2_HUMAN	V	248	ENSP00000297293:E248V	ENSP00000297293:E248V	E	+	2	0	LMTK2	97638874	1.000000	0.71417	0.973000	0.42090	0.363000	0.29612	5.517000	0.67061	2.056000	0.61249	0.533000	0.62120	GAG		PASS	0.667	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		41	63	41	63	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139661962	139661962	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:139661962A>G	ENST00000336425.5	+	13	1453	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	TBXAS1_ENST00000458722.1_Missense_Mutation_p.Y401C|TBXAS1_ENST00000414508.2_Missense_Mutation_p.Y356C|TBXAS1_ENST00000448866.1_Missense_Mutation_p.Y355C|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.Y356C|TBXAS1_ENST00000263552.6_Missense_Mutation_p.Y356C|TBXAS1_ENST00000425687.1_Missense_Mutation_p.Y288C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.Y402C|TBXAS1_ENST00000411653.1_Missense_Mutation_p.Y355C			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	355					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.Y356C(1)|p.Y402C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TTTGCCACCTACCTACTGGCC	0.493																																						uc011kqv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1204-1206)TAC>TGC		thromboxane A synthase 1, platelet isoform							112.0	98.0	103.0					7																	139661962		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661962A>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1064A>G	7.37:g.139661962A>G	ENSP00000338087:p.Tyr355Cys					TBXAS1_uc003vvh.2_Missense_Mutation_p.Y356C|TBXAS1_uc010lne.2_Missense_Mutation_p.Y288C|TBXAS1_uc011kqu.1_Missense_Mutation_p.Y307C|TBXAS1_uc003vvi.2_Missense_Mutation_p.Y356C|TBXAS1_uc003vvj.2_Missense_Mutation_p.Y356C|TBXAS1_uc011kqw.1_Missense_Mutation_p.Y336C	p.Y402C	NM_001130966	NP_001124438	P24557	THAS_HUMAN			10	1369	+	Melanoma(164;0.0142)		355			Helical; (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.1205A>G		.	.	.	.	.	.	.	.	.	.	A	26.3	4.726974	0.89390	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0	D	0.91712	0.5382	10	0.87932	D	0	.	16.4622	0.84064	1.0:0.0:0.0:0.0	.	336;402;307;288;356;356;355	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	C	288;356;355;402;356;356;355;401;355	ENSP00000388736:Y288C;ENSP00000263552:Y356C;ENSP00000338087:Y355C;ENSP00000389414:Y402C;ENSP00000392361:Y356C;ENSP00000392702:Y356C;ENSP00000402536:Y355C;ENSP00000411274:Y401C;ENSP00000411326:Y355C	ENSP00000263552:Y356C	Y	+	2	0	TBXAS1	139308431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.498000	0.90492	2.289000	0.77006	0.533000	0.62120	TAC		PASS	0.493	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			29	92	29	92	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157985171	157985171	+	Missense_Mutation	SNP	C	C	T	rs140977880	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr7:157985171C>T	ENST00000389418.4	-	5	406	c.397G>A	c.(397-399)Gtt>Att	p.V133I	PTPRN2_ENST00000389416.4_Missense_Mutation_p.V116I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V95I|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V133I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V156I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	133					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V133I(2)|p.V133F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCTGCCAACGCTGTGTTTT	0.632													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0					uc003wno.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(397-399)GTT>ATT		protein tyrosine phosphatase, receptor type, N			ILE/VAL,ILE/VAL,ILE/VAL	29,4377	33.5+/-64.1	0,29,2174	52.0	60.0	58.0		397,346,397	-1.7	0.0	7	dbSNP_134	58	1,8597		0,1,4298	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,30,6472	TT,TC,CC		0.0116,0.6582,0.2307	benign,benign,benign	133/1016,116/999,133/987	157985171	30,12974	2203	4299	6502	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985171C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.397G>A	7.37:g.157985171C>T	ENSP00000374069:p.Val133Ile					PTPRN2_uc003wnp.2_Missense_Mutation_p.V116I|PTPRN2_uc003wnq.2_Missense_Mutation_p.V133I|PTPRN2_uc003wnr.2_Missense_Mutation_p.V95I|PTPRN2_uc011kwa.1_Missense_Mutation_p.V156I	p.V133I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	5	518	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	133			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.397G>A	CCDS5947.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	C	0.853	-0.737946	0.03111	0.006582	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.07;4.03;4.03;4.03;4.03	4.17	-1.7	0.08159	.	.	.	.	.	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.001;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.48222	-0.9054	9	0.22109	T	0.4	.	4.3041	0.10938	0.0:0.3572:0.1746:0.4682	.	156;95;133;116;133	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	I	95;133;116;133;156	ENSP00000387114:V95I;ENSP00000374064:V133I;ENSP00000374067:V116I;ENSP00000374069:V133I;ENSP00000385464:V156I	ENSP00000374064:V133I	V	-	1	0	PTPRN2	157677932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-0.140000	0.11394	-1.933000	0.00509	GTT		PASS	0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			13	94	13	94	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2033485	2033485	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:2033485C>T	ENST00000262113.4	+	14	1748	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	536	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.P536L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCACCCACTCCCCGTGGCAAG	0.587																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1606-1608)CCC>CTC		myomesin 2							66.0	58.0	61.0					8																	2033485		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2033485C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1607C>T	8.37:g.2033485C>T	ENSP00000262113:p.Pro536Leu					MYOM2_uc011kwi.1_Intron	p.P536L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	14	1745	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	536			Fibronectin type-III 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1607C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746295	0.49257	.	.	ENSG00000036448	ENST00000262113	T	0.57752	0.38	5.75	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.206172	0.42172	N	0.000743	T	0.68668	0.3026	L	0.56396	1.775	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	T	0.71606	-0.4542	10	0.59425	D	0.04	.	16.2067	0.82134	0.1341:0.8658:0.0:0.0	.	536	P54296	MYOM2_HUMAN	L	536	ENSP00000262113:P536L	ENSP00000262113:P536L	P	+	2	0	MYOM2	2020892	1.000000	0.71417	0.992000	0.48379	0.007000	0.05969	3.556000	0.53734	1.415000	0.47037	0.651000	0.88453	CCC		PASS	0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		13	41	13	41	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89180014	89180014	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:89180014G>T	ENST00000286614.6	-	4	874	c.593C>A	c.(592-594)cCc>cAc	p.P198H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	198					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P198H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCATCAAAGGGAGAGCTGTC	0.448																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(592-594)CCC>CAC		matrix metalloproteinase 16 isoform 1							92.0	81.0	85.0					8																	89180014		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180014G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.593C>A	8.37:g.89180014G>T	ENSP00000286614:p.Pro198His					MMP16_uc003yec.2_Missense_Mutation_p.P198H	p.P198H	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	875	-			198			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.593C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652383	0.88056	.	.	ENSG00000156103	ENST00000286614	T	0.24151	1.87	5.5	5.5	0.81552	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	H	0.95260	3.645	0.80722	D	1	P;P	0.44690	0.841;0.77	B;P	0.45474	0.338;0.482	T	0.69030	-0.5253	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	198;198	P51512-2;P51512	.;MMP16_HUMAN	H	198	ENSP00000286614:P198H	ENSP00000286614:P198H	P	-	2	0	MMP16	89249130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.602000	0.87976	0.644000	0.83932	CCC		PASS	0.448	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		29	28	29	28	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105263842	105263842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:105263842G>T	ENST00000436393.2	+	28	4139	c.3898G>T	c.(3898-3900)Gga>Tga	p.G1300*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.G1121*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.G1282*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.G1096*|RIMS2_ENST00000339750.2_Nonsense_Mutation_p.G218*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1344	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.G1096*(2)|p.G1300*(1)|p.G1282*(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATCGTCTGGGGAGATTATGG	0.358										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3898-3900)GGA>TGA		regulating synaptic membrane exocytosis 2							122.0	120.0	120.0					8																	105263842		1878	4141	6019	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263842G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3898G>T	8.37:g.105263842G>T	ENSP00000390665:p.Gly1300*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.G1282*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.G1096*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.G1121*	p.G1300*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4139	+			1344			C2 2.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.3898G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.761977	0.98474	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	.	.	.	5.64	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3383	0.66606	0.071:0.0:0.929:0.0	.	.	.	.	X	1319;1282;1344;1121;1096;1300;218;218	.	ENSP00000262231:G1121X	G	+	1	0	RIMS2	105333018	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.018000	0.88722	1.390000	0.46547	0.655000	0.94253	GGA		PASS	0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	137	34	137	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105503379	105503379	+	Missense_Mutation	SNP	C	C	A	rs186127441	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:105503379C>A	ENST00000276654.5	-	7	2210	c.2102G>T	c.(2101-2103)cGa>cTa	p.R701L	LRP12_ENST00000424843.2_Missense_Mutation_p.R682L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	701					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R701L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGACCACCTCGGGTACTCTG	0.527																																						uc003yma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2101-2103)CGA>CTA		low density lipoprotein-related protein 12							101.0	85.0	90.0					8																	105503379		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503379C>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2102G>T	8.37:g.105503379C>A	ENSP00000276654:p.Arg701Leu					LRP12_uc003ymb.2_Missense_Mutation_p.R682L|LRP12_uc003ylz.2_Missense_Mutation_p.R107L	p.R701L	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2197	-			701			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2102G>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602508	0.28534	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83837	-1.77;-1.69	5.49	5.49	0.81192	.	0.404278	0.27185	N	0.020521	T	0.70527	0.3234	N	0.14661	0.345	0.39298	D	0.964858	B;B	0.23185	0.081;0.049	B;B	0.23275	0.045;0.02	T	0.66972	-0.5788	10	0.26408	T	0.33	-15.1308	14.4217	0.67187	0.0:0.8532:0.1468:0.0	.	682;701	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	682;701;66	ENSP00000399148:R682L;ENSP00000276654:R701L	ENSP00000276654:R701L	R	-	2	0	LRP12	105572555	0.988000	0.35896	1.000000	0.80357	0.818000	0.46254	3.249000	0.51437	2.744000	0.94065	0.650000	0.86243	CGA		PASS	0.527	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		39	36	39	36	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107718644	107718644	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:107718644C>T	ENST00000442977.2	+	8	997	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.H292Y|OXR1_ENST00000445937.1_Missense_Mutation_p.H299Y|OXR1_ENST00000517566.2_Missense_Mutation_p.H299Y|OXR1_ENST00000497705.1_Missense_Mutation_p.H232Y|OXR1_ENST00000531443.1_Missense_Mutation_p.H299Y	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	300					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.H300Y(1)|p.H211Y(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GGACTTCTGCCATTCAAAGAA	0.368																																						uc011lht.1																			2	Substitution - Missense(2)		lung(2)		0						c.(898-900)CAT>TAT		oxidation resistance 1 isoform 1							72.0	73.0	72.0					8																	107718644		2203	4299	6502	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107718644C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.898C>T	8.37:g.107718644C>T	ENSP00000405424:p.His300Tyr					OXR1_uc003ymf.2_Missense_Mutation_p.H299Y|OXR1_uc011lhu.1_Missense_Mutation_p.H292Y|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_5'UTR|OXR1_uc003ymg.1_Missense_Mutation_p.H232Y|OXR1_uc003ymi.1_Missense_Mutation_p.H211Y	p.H300Y	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	997	+			300					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.898C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586798	0.46110	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	T;T;T;T;T;T	0.25250	2.66;2.66;2.65;2.65;1.81;2.68	5.98	4.94	0.65067	.	0.331370	0.35585	N	0.003102	T	0.25121	0.0610	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.21452	0.015;0.016;0.056;0.027	B;B;B;B	0.23275	0.009;0.006;0.045;0.013	T	0.09885	-1.0654	10	0.02654	T	1	-32.299	16.1091	0.81247	0.0:0.926:0.0:0.074	.	292;300;232;299	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.	Y	299;299;299;300;232;292	ENSP00000402918:H299Y;ENSP00000431966:H299Y;ENSP00000429205:H299Y;ENSP00000405424:H300Y;ENSP00000431014:H232Y;ENSP00000311026:H292Y	ENSP00000311026:H292Y	H	+	1	0	OXR1	107787820	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.589000	0.61006	2.847000	0.97988	0.591000	0.81541	CAT		PASS	0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		42	87	42	87	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113364684	113364684	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:113364684A>T	ENST00000297405.5	-	39	6460	c.6216T>A	c.(6214-6216)gaT>gaA	p.D2072E	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2002E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1968E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2032E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2072	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2072E(1)|p.D2032E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATACTACATCTCCAACCA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6214-6216)GAT>GAA		CUB and Sushi multiple domains 3 isoform 1							110.0	101.0	104.0					8																	113364684		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113364684A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6216T>A	8.37:g.113364684A>T	ENSP00000297405:p.Asp2072Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1274E|CSMD3_uc003ynt.2_Missense_Mutation_p.D2032E|CSMD3_uc011lhx.1_Missense_Mutation_p.D1968E	p.D2072E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			39	6375	-			2072			Extracellular (Potential).|Sushi 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6216T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701037	0.68501	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	4.96	2.5	0.30297	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	L	0.48362	1.52	0.40037	D	0.975608	D;D;B	0.71674	0.998;0.996;0.175	D;D;B	0.85130	0.997;0.989;0.237	T	0.63603	-0.6600	10	0.29301	T	0.29	.	9.5811	0.39488	0.8576:0.0:0.1424:0.0	.	1968;2072;2032	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2032;2072;1342;1968;2002	ENSP00000345799:D2032E;ENSP00000297405:D2072E;ENSP00000341558:D1342E;ENSP00000412263:D1968E;ENSP00000343124:D2002E	ENSP00000297405:D2072E	D	-	3	2	CSMD3	113433860	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.019000	0.41001	0.432000	0.26286	0.533000	0.62120	GAT		PASS	0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	84	26	84	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113364700	113364700	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:113364700C>T	ENST00000297405.5	-	39	6444	c.6200G>A	c.(6199-6201)aGa>aAa	p.R2067K	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1997K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1963K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2027K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2067	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2067K(1)|p.R2027K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACCATATATCTGTCTCCAAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6199-6201)AGA>AAA		CUB and Sushi multiple domains 3 isoform 1							110.0	103.0	105.0					8																	113364700		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113364700C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6200G>A	8.37:g.113364700C>T	ENSP00000297405:p.Arg2067Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R1269K|CSMD3_uc003ynt.2_Missense_Mutation_p.R2027K|CSMD3_uc011lhx.1_Missense_Mutation_p.R1963K	p.R2067K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			39	6359	-			2067			Extracellular (Potential).|Sushi 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6200G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657391	0.96724	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	4.96	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.37652	0.1011	L	0.42529	1.33	0.49051	D	0.999745	P;B;P	0.52842	0.902;0.098;0.956	P;B;P	0.56865	0.688;0.153;0.808	T	0.01639	-1.1306	10	0.19590	T	0.45	.	18.7468	0.91795	0.0:1.0:0.0:0.0	.	1963;2067;2027	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2027;2067;1337;1963;1997	ENSP00000345799:R2027K;ENSP00000297405:R2067K;ENSP00000341558:R1337K;ENSP00000412263:R1963K;ENSP00000343124:R1997K	ENSP00000297405:R2067K	R	-	2	0	CSMD3	113433876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.731000	0.93534	0.655000	0.94253	AGA		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	99	28	99	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132996394	132996394	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr8:132996394A>T	ENST00000254624.5	+	15	1809	c.1584A>T	c.(1582-1584)caA>caT	p.Q528H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q492H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q528H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	528						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.Q528H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGAATGGGCAACAGCTGTATC	0.353																																						uc003yte.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1582-1584)CAA>CAT		EFR3 homolog A							62.0	60.0	61.0					8																	132996394		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132996394A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1584A>T	8.37:g.132996394A>T	ENSP00000254624:p.Gln528His						p.Q528H	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		15	1785	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		528					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1584A>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178934	0.78564	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.67345	1.45;1.45;-0.26	6.02	-10.9	0.00192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.57536	1.79	0.58432	D	0.999998	B	0.24132	0.098	B	0.30179	0.112	T	0.46978	-0.9152	10	0.52906	T	0.07	-19.7135	16.205	0.82120	0.1313:0.0737:0.795:0.0	.	528	Q14156	EFR3A_HUMAN	H	528;528;528;492	ENSP00000254624:Q528H;ENSP00000334769:Q528H;ENSP00000428086:Q492H	ENSP00000254624:Q528H	Q	+	3	2	EFR3A	133065576	0.593000	0.26840	0.338000	0.25549	0.974000	0.67602	-0.272000	0.08560	-1.826000	0.01205	-0.256000	0.11100	CAA		PASS	0.353	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		15	34	15	34	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	G	A	rs387906410|rs121913386		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr9:21971017G>A	ENST00000304494.5	-	2	611	c.341C>T	c.(340-342)cCc>cTc	p.P114L	CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000530628.2_Silent_p.A128A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|P -> S (found in some patients with melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17																	1395	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(30)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.0?(1112)|p.P114L(21)|p.?(13)|p.P114H(3)|p.H83fs*2(2)|p.P114S(2)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(1)	haematopoietic_and_lymphoid_tissue(283)|skin(191)|central_nervous_system(168)|lung(148)|urinary_tract(93)|bone(74)|soft_tissue(58)|upper_aerodigestive_tract(55)|oesophagus(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM983988	CDKN2A	M	rs121913386	c.(340-342)CCC>CTC		cyclin-dependent kinase inhibitor 2A isoform 1							20.0	23.0	22.0					9																	21971017		2200	4298	6498	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971017G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.341C>T	9.37:g.21971017G>A	ENSP00000307101:p.Pro114Leu	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A169A	p.P114L	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	553	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	114		P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.341C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590648	0.96590	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.70516	-0.49;-0.49	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.85725	0.5763	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86539	0.1827	8	0.87932	D	0	-14.6853	19.1221	0.93367	0.0:0.0:1.0:0.0	.	114	P42771	CD2A1_HUMAN	L	114	ENSP00000307101:P114L;ENSP00000394932:P114L	ENSP00000307101:P114L	P	-	2	0	CDKN2A	21961017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.619000	0.90938	2.808000	0.96608	0.655000	0.94253	CCC		PASS	0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		26	9	26	9	---	---	---	---
IFT74	80173	broad.mit.edu	37	9	26984516	26984516	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr9:26984516G>A	ENST00000443698.1	+	6	595	c.424G>A	c.(424-426)Gag>Aag	p.E142K	IFT74_ENST00000380062.5_Missense_Mutation_p.E142K|IFT74_ENST00000433700.1_Missense_Mutation_p.E142K|IFT74_ENST00000429045.2_Missense_Mutation_p.E142K	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	142					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)	p.E142K(2)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTAGCTGTTGAGATAAAAGA	0.274																																						uc010mja.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(424-426)GAG>AAG		coiled-coil domain containing 2 isoform a							112.0	109.0	110.0					9																	26984516		1792	4073	5865	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26984516G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.424G>A	9.37:g.26984516G>A	ENSP00000404122:p.Glu142Lys					IFT74_uc010mjb.2_Missense_Mutation_p.E142K|IFT74_uc003zqf.3_Missense_Mutation_p.E142K|IFT74_uc003zqg.3_Missense_Mutation_p.E142K	p.E142K	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	6	551	+		all_neural(11;2.36e-10)	142			Potential.		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.424G>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393034	0.96009	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T	0.55588	0.51;1.37;1.37;1.37;1.37;1.37	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.73920	-0.3830	10	0.46703	T	0.11	-22.1621	20.0694	0.97716	0.0:0.0:1.0:0.0	.	142;142	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	K	142;142;142;142;142;142;104	ENSP00000430004:E142K;ENSP00000389224:E142K;ENSP00000404122:E142K;ENSP00000369402:E142K;ENSP00000393907:E142K;ENSP00000430742:E104K	ENSP00000369402:E142K	E	+	1	0	IFT74	26974516	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.082000	0.94059	2.761000	0.94854	0.585000	0.79938	GAG		PASS	0.274	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		58	118	58	118	---	---	---	---
DCAF12	25853	broad.mit.edu	37	9	34098402	34098402	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr9:34098402C>A	ENST00000361264.4	-	5	1056	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	239					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)		p.A239S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCTTTAAGGCCTTGTGAGTG	0.478																																						uc003ztt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GCC>TCC		DDB1 and CUL4 associated factor 12							361.0	291.0	315.0					9																	34098402		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34098402C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.715G>T	9.37:g.34098402C>A	ENSP00000355114:p.Ala239Ser						p.A239S	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			5	1057	-			239					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.715G>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941542	0.73557	.	.	ENSG00000198876	ENST00000361264;ENST00000396990	T;T	0.62639	0.01;0.21	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.36672	1.1	0.80722	D	1	P	0.42296	0.775	B	0.37198	0.243	T	0.52064	-0.8625	10	0.02654	T	1	-11.3896	17.5766	0.87952	0.0:1.0:0.0:0.0	.	239	Q5T6F0	DCA12_HUMAN	S	239;221	ENSP00000355114:A239S;ENSP00000380187:A221S	ENSP00000355114:A239S	A	-	1	0	DCAF12	34088402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.007000	0.76335	2.596000	0.87737	0.655000	0.94253	GCC		PASS	0.478	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		116	40	116	40	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475753	120475753	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr9:120475753C>T	ENST00000355622.6	+	3	1448	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L409L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	449					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L449L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCAGAAACCTCATTTACCTTG	0.393																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1345-1347)CTC>CTT		toll-like receptor 4 precursor							97.0	97.0	97.0					9																	120475753		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475753C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1347C>T	9.37:g.120475753C>T						TLR4_uc004bka.2_Silent_p.L409L|TLR4_uc004bkb.2_Silent_p.L249L	p.L449L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1638	+			449			LRR 14.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1347C>T	CCDS6818.1																																																																																				PASS	0.393	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		38	85	38	85	---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140057129	140057129	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr9:140057129C>A	ENST00000371561.3	+	14	3048	c.1951C>A	c.(1951-1953)Ctg>Atg	p.L651M	GRIN1_ENST00000371559.4_Missense_Mutation_p.L651M|GRIN1_ENST00000315048.3_Missense_Mutation_p.L651M|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.L672M|GRIN1_ENST00000371550.4_Missense_Mutation_p.L651M|GRIN1_ENST00000371555.4_Missense_Mutation_p.L672M|GRIN1_ENST00000350902.5_Missense_Mutation_p.L651M|GRIN1_ENST00000371560.3_Missense_Mutation_p.L672M|GRIN1_ENST00000371546.4_Missense_Mutation_p.L672M	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	651					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)	p.L651M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCGCCAACCTGGCGGCCTT	0.701																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1951-1953)CTG>ATG		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						16.0	19.0	18.0					9																	140057129		2197	4296	6493	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140057129C>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1951C>A	9.37:g.140057129C>A	ENSP00000360616:p.Leu651Met					GRIN1_uc004cli.1_Missense_Mutation_p.L326M|GRIN1_uc004clj.1_Missense_Mutation_p.L648M|GRIN1_uc004cll.2_Missense_Mutation_p.L651M|GRIN1_uc004clm.2_Missense_Mutation_p.L651M|GRIN1_uc004cln.2_Missense_Mutation_p.L669M|GRIN1_uc004clo.2_Missense_Mutation_p.L669M	p.L651M	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	14	2281	+	all_cancers(76;0.0926)		651			Helical; (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.1951C>A	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	c	17.24	3.339183	0.60963	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	4.54	2.65	0.31530	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000002	D	0.87091	0.6091	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0;1.0	D	0.86775	0.1975	10	0.87932	D	0	.	10.0333	0.42114	0.0:0.835:0.0:0.165	.	672;672;651;651;651;651	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	M	651;651;651;651;672;672;672;651;672	ENSP00000360616:L651M;ENSP00000316696:L651M;ENSP00000316915:L651M;ENSP00000360605:L651M;ENSP00000360601:L672M;ENSP00000360610:L672M;ENSP00000360608:L672M;ENSP00000360614:L651M;ENSP00000360615:L672M	ENSP00000316696:L651M	L	+	1	2	GRIN1	139176950	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.862000	0.48388	0.348000	0.23949	0.450000	0.29827	CTG		PASS	0.701	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		15	11	15	11	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22021984	22021984	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr10:22021984C>T	ENST00000307729.7	+	18	2553	c.2375C>T	c.(2374-2376)tCt>tTt	p.S792F	MLLT10_ENST00000377072.3_Missense_Mutation_p.S808F|MLLT10_ENST00000446906.2_Missense_Mutation_p.S792F|MLLT10_ENST00000377059.3_Missense_Mutation_p.S792F			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	792					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S808F(1)|p.S808C(1)|p.S792F(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTAGTCCGTCTCATCAAATA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		3	Substitution - Missense(3)		lung(2)|NS(1)	lung(1)|skin(1)	2						c.(2422-2424)TCT>TTT		myeloid/lymphoid or mixed-lineage leukemia							100.0	96.0	97.0					10																	22021984		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021984C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2375C>T	10.37:g.22021984C>T	ENSP00000307411:p.Ser792Phe					MLLT10_uc001iqt.2_Missense_Mutation_p.S792F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S792F|MLLT10_uc001ira.2_Missense_Mutation_p.S249F|MLLT10_uc001irb.2_RNA	p.S808F	NM_004641	NP_004632	P55197	AF10_HUMAN			19	2771	+			808					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2423C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574265	0.86542	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.16457	2.36;2.34;2.35;2.34	6.01	5.06	0.68205	.	0.404641	0.29995	N	0.010672	T	0.32194	0.0821	L	0.50333	1.59	0.53688	D	0.999972	D;P;D;P	0.59767	0.986;0.956;0.971;0.956	P;P;P;P	0.59487	0.858;0.642;0.603;0.642	T	0.00288	-1.1845	10	0.42905	T	0.14	.	16.0974	0.81135	0.1344:0.8655:0.0:0.0	.	487;792;792;808	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	F	808;792;792;627;792	ENSP00000366272:S808F;ENSP00000401406:S792F;ENSP00000307411:S792F;ENSP00000366258:S792F	ENSP00000307411:S792F	S	+	2	0	MLLT10	22061990	0.163000	0.22920	0.998000	0.56505	0.997000	0.91878	2.562000	0.45914	2.860000	0.98153	0.655000	0.94253	TCT		PASS	0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			21	46	21	46	---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95422928	95422928	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr10:95422928C>T	ENST00000371447.3	+	21	2649	c.2511C>T	c.(2509-2511)gcC>gcT	p.A837A	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	837					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.A837A(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AAGGAGGAGCCGAAAAAGGTT	0.428																																						uc001kiu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2509-2511)GCC>GCT		phosphodiesterase 6C							109.0	113.0	112.0					10																	95422928		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95422928C>T	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2511C>T	10.37:g.95422928C>T							p.A837A	NM_006204	NP_006195	P51160	PDE6C_HUMAN			21	2649	+		Colorectal(252;0.123)	837					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.2511C>T	CCDS7429.1																																																																																				PASS	0.428	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		10	25	10	25	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4407427	4407427	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:4407427G>A	ENST00000254436.7	-	6	931	c.819C>T	c.(817-819)tgC>tgT	p.C273C	TRIM21_ENST00000543625.1_Silent_p.C273C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C273C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTGGCACATGGCACACACTCC	0.537																																						uc001lyy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(817-819)TGC>TGT		tripartite motif protein 21							81.0	80.0	80.0					11																	4407427		2021	4190	6211	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4407427G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.819C>T	11.37:g.4407427G>A							p.C273C	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	6	932	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	273			B30.2/SPRY.		Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.819C>T	CCDS44525.1																																																																																				PASS	0.537	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		15	31	15	31	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14501234	14501234	+	Silent	SNP	G	G	A	rs149921106		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:14501234G>A	ENST00000249923.3	-	11	1539	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Silent_p.N413N	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	413					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.N413N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGCTGCTTCGTTGTTGTCAC	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		14717	0.0		0.001	False		,,,				2504	0.0					uc001mli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1237-1239)AAC>AAT		coatomer protein complex, subunit beta 1							60.0	58.0	59.0					11																	14501234		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14501234G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1239C>T	11.37:g.14501234G>A						COPB1_uc001mlg.2_Silent_p.N413N|COPB1_uc001mlh.2_Silent_p.N413N	p.N413N	NM_016451	NP_057535	P53618	COPB_HUMAN			11	1546	-			413			HEAT 6.		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.1239C>T	CCDS7815.1																																																																																				PASS	0.338	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		26	39	26	39	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31327799	31327799	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:31327799T>C	ENST00000452803.1	-	5	772	c.571A>G	c.(571-573)Act>Gct	p.T191A	DCDC1_ENST00000597505.1_Missense_Mutation_p.T191A|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	191	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.T191A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTGGTACAGTAACTCTGGCA	0.333																																						uc001msv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(571-573)ACT>GCT		doublecortin domain containing 1							125.0	119.0	121.0					11																	31327799		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31327799T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.571A>G	11.37:g.31327799T>C	ENSP00000389792:p.Thr191Ala					DCDC1_uc001msu.1_5'UTR	p.T191A	NM_181807	NP_861523	P59894	DCDC1_HUMAN			5	773	-	Lung SC(675;0.225)		191			Doublecortin.		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.571A>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.614292	0.28712	.	.	ENSG00000188682	ENST00000452803	D	0.93712	-3.27	5.95	0.882	0.19172	Doublecortin domain (3);	0.328618	0.26180	N	0.025863	D	0.85579	0.5729	L	0.40543	1.245	0.21933	N	0.999462	B	0.09022	0.002	B	0.11329	0.006	T	0.67749	-0.5590	10	0.12430	T	0.62	.	4.8902	0.13722	0.1762:0.4516:0.0:0.3722	.	191	P59894	DCDC1_HUMAN	A	191	ENSP00000389792:T191A	ENSP00000343496:T191A	T	-	1	0	DCDC1	31284375	0.998000	0.40836	0.993000	0.49108	0.989000	0.77384	0.279000	0.18771	0.144000	0.18951	0.528000	0.53228	ACT		PASS	0.333	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		19	38	19	38	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230130	56230130	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:56230130A>G	ENST00000279791.1	-	1	747	c.748T>C	c.(748-750)Tat>Cat	p.Y250H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y250H(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	Esophageal squamous(21;0.00448)					GGGGTCCCATAAAACATAGAA	0.512																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(748-750)TAT>CAT		olfactory receptor, family 5, subfamily M,							53.0	50.0	51.0					11																	56230130		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230130A>G	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.748T>C	11.37:g.56230130A>G	ENSP00000279791:p.Tyr250His						p.Y250H	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	748	-	Esophageal squamous(21;0.00448)		250			Helical; Name=6; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.748T>C	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659088	0.29515	.	.	ENSG00000150269	ENST00000279791	T	0.41065	1.01	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001173	T	0.64483	0.2602	M	0.83312	2.635	0.24646	N	0.993544	D	0.76494	0.999	D	0.80764	0.994	T	0.58808	-0.7571	10	0.48119	T	0.1	-15.0364	11.8504	0.52407	1.0:0.0:0.0:0.0	.	250	Q8NGP3	OR5M9_HUMAN	H	250	ENSP00000279791:Y250H	ENSP00000279791:Y250H	Y	-	1	0	OR5M9	55986706	0.632000	0.27172	0.958000	0.39756	0.028000	0.11728	3.734000	0.55037	1.754000	0.51921	0.443000	0.29094	TAT		PASS	0.512	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		29	36	29	36	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206696	58206696	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:58206696A>G	ENST00000302572.2	-	1	950	c.929T>C	c.(928-930)aTa>aCa	p.I310T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I310T(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATGAATCCTATAGAGGCCTT	0.378																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)ATA>ACA		olfactory receptor, family 5, subfamily B,							42.0	42.0	42.0					11																	58206696		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206696A>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.929T>C	11.37:g.58206696A>G	ENSP00000306657:p.Ile310Thr						p.I310T	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	929	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	310			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.929T>C	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	2.605	-0.292100	0.05568	.	.	ENSG00000172362	ENST00000302572	T	0.00463	7.25	4.29	4.29	0.51040	.	0.780131	0.10818	N	0.630824	T	0.00271	0.0008	N	0.04508	-0.205	0.09310	N	1	B	0.30584	0.286	B	0.28991	0.097	T	0.52388	-0.8582	10	0.87932	D	0	-1.0059	9.081	0.36552	0.8148:0.1852:0.0:0.0	.	310	Q96R08	OR5BC_HUMAN	T	310	ENSP00000306657:I310T	ENSP00000306657:I310T	I	-	2	0	OR5B12	57963272	0.000000	0.05858	0.004000	0.12327	0.024000	0.10985	-0.243000	0.08915	1.925000	0.55765	0.374000	0.22700	ATA		PASS	0.378	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		24	49	24	49	---	---	---	---
MS4A15	219995	broad.mit.edu	37	11	60540959	60540959	+	Splice_Site	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:60540959T>C	ENST00000405633.3	+	5	577		c.e5+2		MS4A15_ENST00000337911.4_Splice_Site|MS4A15_ENST00000528170.1_Splice_Site	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15							integral component of membrane (GO:0016021)		p.?(2)		breast(1)|large_intestine(2)|lung(3)	6						ACCAACCGGGTGCGTTGTCAG	0.582																																						uc009ynf.1																			2	Unknown(2)		lung(2)	lung(1)	1						c.e5+2		membrane-spanning 4-domains, subfamily A, member							95.0	78.0	84.0					11																	60540959		2203	4300	6503	SO:0001630	splice_region_variant	219995					integral to membrane	receptor activity	g.chr11:60540959T>C	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.498+2T>C	11.37:g.60540959T>C						MS4A15_uc001npx.2_Splice_Site_p.R73_splice|MS4A15_uc001npy.2_Splice_Site|MS4A15_uc009yng.1_Splice_Site_p.R125_splice	p.R166_splice	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN			5	718	+								A9UJY6|A9UJY7|F2Z2J5	Splice_Site	SNP	ENST00000405633.3	37	c.498_splice	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014261	0.35511	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6302	0.45532	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A15	60297535	1.000000	0.71417	0.983000	0.44433	0.339000	0.28857	3.608000	0.54109	1.772000	0.52199	0.454000	0.30748	.		PASS	0.582	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		Intron	18	35	18	35	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271306	65271306	+	lincRNA	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:65271306G>A	ENST00000534336.1	+	0	6074					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATAAAGTGATGAGCATATAAT	0.373																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							34.0	35.0	34.0					11																	65271306		874	1988	2862			378938							g.chr11:65271306G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271306G>A						uc001ody.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.6074G>A																																																																																					PASS	0.373	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		16	41	16	41	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271803	65271803	+	lincRNA	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:65271803C>A	ENST00000534336.1	+	0	6571					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACAGACTTCACAGAGAATGCA	0.413																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							32.0	31.0	31.0					11																	65271803		874	1988	2862			378938							g.chr11:65271803C>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271803C>A						uc001ody.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.6571C>A																																																																																					PASS	0.413	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		5	37	5	37	---	---	---	---
PC	5091	broad.mit.edu	37	11	66620276	66620276	+	Silent	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:66620276C>A	ENST00000393958.2	-	13	1638	c.1545G>T	c.(1543-1545)ccG>ccT	p.P515P	PC_ENST00000393955.2_Silent_p.P515P|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.P515P|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	515					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.P515P(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGACGGGAATCGGGGTGGTTG	0.627																																						uc001ojn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1543-1545)CCG>CCT		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						92.0	86.0	88.0					11																	66620276		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620276C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1545G>T	11.37:g.66620276C>A						PC_uc001ojo.1_Silent_p.P515P|PC_uc001ojp.1_Silent_p.P515P|PC_uc001ojm.1_5'Flank	p.P515P	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	12	1594	-		Melanoma(852;0.0525)	515					B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.1545G>T	CCDS8152.1																																																																																				PASS	0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		45	60	45	60	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68848948	68848948	+	Missense_Mutation	SNP	G	G	A	rs146072177	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:68848948G>A	ENST00000294309.3	+	18	1771	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	TPCN2_ENST00000442692.2_3'UTR|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	557					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.R557H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGCTTCCTGCGTATCATCCCC	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13019	0.0		0.0	False		,,,				2504	0.0					uc001oos.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1669-1671)CGT>CAT		two pore segment channel 2							100.0	63.0	76.0					11																	68848948		2191	4284	6475	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68848948G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1670G>A	11.37:g.68848948G>A	ENSP00000294309:p.Arg557His					TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA|hsa-mir-3164|MI0014194_5'Flank	p.R557H	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		18	1786	+			557			Helical; Name=S4 of repeat II; (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1670G>A	CCDS8189.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.45	3.830644	0.71258	.	.	ENSG00000162341	ENST00000356782;ENST00000294309	D	0.98455	-4.94	4.07	3.12	0.35913	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99099	0.9690	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.72032	D	0.01	.	13.3315	0.60490	0.0:0.1604:0.8395:0.0	.	557	Q8NHX9	TPC2_HUMAN	H	414;557	ENSP00000294309:R557H	ENSP00000294309:R557H	R	+	2	0	TPCN2	68605524	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	6.596000	0.74113	0.794000	0.33899	0.462000	0.41574	CGT		PASS	0.662	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	41	4	41	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89133542	89133542	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr11:89133542C>A	ENST00000263317.4	-	10	1090	c.852G>T	c.(850-852)tgG>tgT	p.W284C	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.W118C|NOX4_ENST00000528341.1_Missense_Mutation_p.W259C|NOX4_ENST00000413594.2_Missense_Mutation_p.W305C|NOX4_ENST00000534731.1_Missense_Mutation_p.W284C|NOX4_ENST00000343727.5_Missense_Mutation_p.W260C|NOX4_ENST00000535633.1_Missense_Mutation_p.W260C|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.W260C|NOX4_ENST00000424319.1_Missense_Mutation_p.W260C|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.W260C|NOX4_ENST00000532825.1_Missense_Mutation_p.W260C			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	284	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.W284C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAATCCAAAGCCAAGTCTAAG	0.383																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(850-852)TGG>TGT		NADPH oxidase 4 isoform a							38.0	37.0	37.0					11																	89133542		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133542C>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.852G>T	11.37:g.89133542C>A	ENSP00000263317:p.Trp284Cys					NOX4_uc009yvr.2_Missense_Mutation_p.W259C|NOX4_uc001pcu.2_Missense_Mutation_p.W210C|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.W284C|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.W118C|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.W260C|NOX4_uc009yvq.2_Missense_Mutation_p.W260C	p.W284C	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			10	1091	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	284			Extracellular (Potential).|Ferric oxidoreductase.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.852G>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779765	0.70107	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.96651	-4.01;-4.01;-4.01;-3.98;-3.95;-4.04;-4.01;-4.01;-3.89;-3.99;-4.08	5.24	5.24	0.73138	.	0.063133	0.64402	D	0.000002	D	0.98595	0.9530	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;0.999;1.0;0.965	P;D;D;D;P	0.81914	0.895;0.961;0.936;0.995;0.853	D	0.99581	1.0973	9	.	.	.	-6.821	18.8119	0.92061	0.0:1.0:0.0:0.0	.	260;118;259;284;284	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	C	260;260;260;284;284;260;260;260;118;259;305	ENSP00000412446:W260C;ENSP00000440172:W260C;ENSP00000344747:W260C;ENSP00000436892:W284C;ENSP00000263317:W284C;ENSP00000434924:W260C;ENSP00000433797:W260C;ENSP00000439373:W260C;ENSP00000436093:W118C;ENSP00000436970:W259C;ENSP00000405705:W305C	.	W	-	3	0	NOX4	88773190	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.270000	0.78493	2.455000	0.83008	0.561000	0.74099	TGG		PASS	0.383	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		4	46	4	46	---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3039413	3039413	+	Splice_Site	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:3039413G>C	ENST00000448120.2	+	5	445		c.e5-1		TULP3_ENST00000397132.2_Splice_Site|RNU7-166P_ENST00000459397.1_RNA	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3						anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.?(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTTTCTGCTAGATATCTCTGA	0.363																																						uc010seh.1																			1	Unknown(1)		lung(1)		0						c.e5-1		tubby like protein 3 isoform 1							68.0	63.0	65.0					12																	3039413		2203	4300	6503	SO:0001630	splice_region_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3039413G>C	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.395-1G>C	12.37:g.3039413G>C						TULP3_uc010sef.1_Splice_Site|TULP3_uc009zec.1_Splice_Site|TULP3_uc010seg.1_Splice_Site|TULP3_uc001qlj.2_Splice_Site_p.D132_splice|TULP3_uc010sei.1_Intron	p.D132_splice	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	476	+								B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Splice_Site	SNP	ENST00000448120.2	37	c.395_splice	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	8.857	0.946055	0.18356	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	.	.	.	4.64	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0654	0.53586	0.0831:0.0:0.9169:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TULP3	2909674	1.000000	0.71417	0.478000	0.27316	0.072000	0.16883	7.931000	0.87625	1.175000	0.42826	0.655000	0.94253	.		PASS	0.363	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324	Intron	5	16	5	16	---	---	---	---
PRB3	5544	broad.mit.edu	37	12	11420269	11420269	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:11420269G>C	ENST00000381842.3	-	5	824	c.787C>G	c.(787-789)Cca>Gca	p.P263A	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P263A|PRB3_ENST00000279573.7_3'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	263	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.P263A(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCCTTCCTGGAGGAGGGGGA	0.617																																						uc001qzs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(787-789)CCA>GCA		proline-rich protein BstNI subfamily 3							142.0	166.0	158.0					12																	11420269		2201	4300	6501	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420269G>C			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.787C>G	12.37:g.11420269G>C	ENSP00000371264:p.Pro263Ala					PRB4_uc001qzf.1_Intron	p.P263A	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		4	825	-			263			Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000381842.3	37	c.787C>G		.	.	.	.	.	.	.	.	.	.	.	3.120	-0.180642	0.06380	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.32988	1.43;1.43	1.33	-2.66	0.06077	.	.	.	.	.	T	0.08403	0.0209	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.18263	0.021	T	0.27191	-1.0081	8	0.02654	T	1	.	1.3732	0.02215	0.1567:0.2062:0.4283:0.2089	.	263	Q04118	PRB3_HUMAN	A	263	ENSP00000371264:P263A;ENSP00000442626:P263A	ENSP00000371264:P263A	P	-	1	0	PRB3	11311536	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	0.402000	0.20965	-0.870000	0.04047	-0.840000	0.03056	CCA		PASS	0.617	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		181	159	181	159	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18691219	18691219	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:18691219C>G	ENST00000266497.5	+	23	3368	c.3330C>G	c.(3328-3330)agC>agG	p.S1110R	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S1110R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1151R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1110	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.S1110R(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAGCACAGCCAACTGCTCT	0.368																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3328-3330)AGC>AGG		phosphoinositide-3-kinase, class 2 gamma							71.0	69.0	70.0					12																	18691219		1823	4070	5893	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18691219C>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3330C>G	12.37:g.18691219C>G	ENSP00000266497:p.Ser1110Arg					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.S1151R|PIK3C2G_uc010sic.1_Missense_Mutation_p.S929R	p.S1110R	NM_004570	NP_004561	O75747	P3C2G_HUMAN			24	3446	+		Hepatocellular(102;0.194)	1110			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3330C>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700491	0.48307	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.76060	-0.99;-0.99;-0.99	4.21	2.4	0.29515	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.296669	0.33631	N	0.004718	T	0.77798	0.4184	L	0.46614	1.455	0.41185	D	0.986261	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	T	0.75952	-0.3136	10	0.66056	D	0.02	-13.7394	5.4393	0.16498	0.1602:0.6687:0.0:0.1711	.	1150;1151;1110	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	R	1110;1110;1151	ENSP00000404845:S1110R;ENSP00000266497:S1110R;ENSP00000445381:S1151R	ENSP00000266497:S1110R	S	+	3	2	PIK3C2G	18582486	0.037000	0.19845	0.900000	0.35374	0.991000	0.79684	0.291000	0.18994	0.739000	0.32628	0.591000	0.81541	AGC		PASS	0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		53	39	53	39	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												uc001rjt.1																			11	Substitution - Missense(11)		lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(3)	3						c.(499-501)AGA>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	p.R167T	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		PASS	0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	22	3	22	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48535522	48535523	+	Splice_Site	DNP	GG	GG	CC			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:48535522_48535523GG>CC	ENST00000312352.7	+	16	1451_1452	c.1412_1413GG>CC	c.(1411-1413)aGG>aCC	p.R471T	PFKM_ENST00000547587.1_Splice_Site_p.R471T|PFKM_ENST00000551804.1_Splice_Site_p.R440T|PFKM_ENST00000395233.2_Splice_Site_p.R440T|PFKM_ENST00000359794.5_Splice_Site_p.R471T|PFKM_ENST00000340802.6_Splice_Site_p.R542T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	471	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.?(4)|p.R471S(1)|p.R542S(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGATCAACTAGGACTCTACCCA	0.47																																						uc001rrc.2																			6	Unknown(4)|Substitution - Missense(2)		lung(6)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.e16-1|c.(1411-1413)AGG>AGC		phosphofructokinase, muscle																																				SO:0001630	splice_region_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48535522G>C|g.chr12:48535523G>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		Exception_encountered	12.37:g.48535522_48535523delinsCC						PFKM_uc001rra.1_Splice_Site_p.R156_splice|PFKM_uc001rrb.1_Splice_Site_p.R542_splice|PFKM_uc001rrd.2_Splice_Site_p.R156_splice|PFKM_uc001rre.1_Splice_Site_p.R471_splice|PFKM_uc001rrg.1_Splice_Site_p.R440_splice|PFKM_uc001rra.1_Missense_Mutation_p.R156S|PFKM_uc001rrb.1_Missense_Mutation_p.R542S|PFKM_uc001rrd.2_Missense_Mutation_p.R156S|PFKM_uc001rre.1_Missense_Mutation_p.R471S|PFKM_uc001rrg.1_Missense_Mutation_p.R440S	p.R471_splice|p.R471S	NM_000289	NP_000280	P08237	K6PF_HUMAN			16	1583	+			|471					J3KNX3|Q16814|Q16815|Q6ZTT1	Splice_Site|Missense_Mutation	SNP	ENST00000312352.7	37	c.1413_splice|c.1413G>C	CCDS8760.1																																																																																				PASS	0.470	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	Missense_Mutation	31|32	159	31	159	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49938088	49938088	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:49938088C>T	ENST00000257981.6	+	7	1372	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	371					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A371V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCTGCTCGCGCACTGGGTC	0.652																																						uc001ruh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)GCG>GTG		potassium voltage-gated channel, subfamily H							41.0	34.0	37.0					12																	49938088		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49938088C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1112C>T	12.37:g.49938088C>T	ENSP00000257981:p.Ala371Val					KCNH3_uc010smj.1_Missense_Mutation_p.A311V	p.A371V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			7	1372	+			371			Helical; Name=Segment S5; (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1112C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354473	0.82243	.	.	ENSG00000135519	ENST00000257981	D	0.97066	-4.23	4.66	4.66	0.58398	Ion transport (1);	0.000000	0.43110	D	0.000613	D	0.97717	0.9251	L	0.56340	1.77	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98229	1.0482	10	0.87932	D	0	.	15.4492	0.75259	0.0:1.0:0.0:0.0	.	371	Q9ULD8	KCNH3_HUMAN	V	371	ENSP00000257981:A371V	ENSP00000257981:A371V	A	+	2	0	KCNH3	48224355	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	7.639000	0.83342	2.605000	0.88082	0.561000	0.74099	GCG		PASS	0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		9	20	9	20	---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647205	53647205	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:53647205A>G	ENST00000329548.4	+	2	777	c.586A>G	c.(586-588)Ata>Gta	p.I196V	MFSD5_ENST00000534842.1_Missense_Mutation_p.I303V	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	196					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I196V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGCCAGCTGGATAGGGCTGGG	0.627																																						uc001sci.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(586-588)ATA>GTA		major facilitator superfamily domain containing							86.0	88.0	87.0					12																	53647205		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647205A>G	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.586A>G	12.37:g.53647205A>G	ENSP00000332624:p.Ile196Val					MFSD5_uc001sch.1_Missense_Mutation_p.I303V	p.I196V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN			2	777	+			196			Helical; (Potential).		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.586A>G	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798143	0.31777	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80994	-1.44;-1.44	4.25	1.82	0.25136	Major facilitator superfamily domain, general substrate transporter (1);	0.292309	0.33515	N	0.004836	T	0.59905	0.2228	N	0.14661	0.345	0.32938	D	0.517993	B;B	0.15930	0.002;0.015	B;B	0.15870	0.01;0.014	T	0.55166	-0.8183	10	0.29301	T	0.29	-1.1988	5.3646	0.16107	0.5266:0.3619:0.1115:0.0	.	196;303	Q6N075;G3V1N7	MFSD5_HUMAN;.	V	303;303;303;196	ENSP00000442688:I303V;ENSP00000332624:I196V	ENSP00000331231:I303V	I	+	1	0	MFSD5	51933472	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.262000	0.32992	0.685000	0.31468	0.459000	0.35465	ATA		PASS	0.627	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		37	124	37	124	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54903646	54903646	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:54903646C>T	ENST00000293373.6	+	7	691	c.612C>T	c.(610-612)gcC>gcT	p.A204A	NCKAP1L_ENST00000545638.2_Silent_p.A154A	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	204					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.A204A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAGTGGAGCCCTCCTCTCTT	0.512																																						uc001sgc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(610-612)GCC>GCT		NCK-associated protein 1-like							186.0	194.0	192.0					12																	54903646		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903646C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.612C>T	12.37:g.54903646C>T						NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.A154A	p.A204A	NM_005337	NP_005328	P55160	NCKPL_HUMAN			7	691	+			204					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.612C>T	CCDS31813.1																																																																																				PASS	0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		100	238	100	238	---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384546	56384546	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:56384546G>A	ENST00000360299.5	+	4	617	c.396G>A	c.(394-396)ggG>ggA	p.G132G	RAB5B_ENST00000448789.2_Intron|RAB5B_ENST00000553116.1_Silent_p.G132G	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	132					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.G132G(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CCCTGGCAGGGAACAAAGCTG	0.502																																						uc001siv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)GGG>GGA		RAB5B, member RAS oncogene family							135.0	125.0	128.0					12																	56384546		2203	4300	6503	SO:0001819	synonymous_variant	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56384546G>A		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.396G>A	12.37:g.56384546G>A						RAB5B_uc001siw.2_Silent_p.G132G|RAB5B_uc009zog.2_Silent_p.G72G|RAB5B_uc010spz.1_Intron	p.G132G	NM_002868	NP_002859	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		4	513	+			132					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Silent	SNP	ENST00000360299.5	37	c.396G>A	CCDS8900.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.103046	0.20632	.	.	ENSG00000111540	ENST00000549218	.	.	.	4.62	2.7	0.31948	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50767	-0.8789	4	.	.	.	-9.1498	7.1487	0.25597	0.2948:0.0:0.7052:0.0	.	.	.	.	K	52	.	.	E	+	1	0	RAB5B	54670813	0.917000	0.31117	1.000000	0.80357	0.996000	0.88848	0.045000	0.14013	1.214000	0.43395	0.585000	0.79938	GAA		PASS	0.502	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			39	122	39	122	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57570994	57570994	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:57570994C>T	ENST00000243077.3	+	25	4628	c.4162C>T	c.(4162-4164)Cac>Tac	p.H1388Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1388					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.H1388Y(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACATTGAGCACCCAAGGGC	0.632																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4162-4164)CAC>TAC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95.0	78.0	84.0					12																	57570994		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57570994C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4162C>T	12.37:g.57570994C>T	ENSP00000243077:p.His1388Tyr						p.H1388Y	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	25	4628	+			1388			Extracellular (Potential).|LDL-receptor class B 9.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4162C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782322	0.70222	.	.	ENSG00000123384	ENST00000243077	D	0.96491	-4.03	5.0	5.0	0.66597	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97170	0.9075	L	0.53617	1.68	0.80722	D	1	D	0.58268	0.982	D	0.70227	0.968	D	0.96123	0.9086	10	0.30078	T	0.28	.	17.2315	0.86985	0.0:1.0:0.0:0.0	.	1388	Q07954	LRP1_HUMAN	Y	1388	ENSP00000243077:H1388Y	ENSP00000243077:H1388Y	H	+	1	0	LRP1	55857261	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.645000	0.83430	2.602000	0.87976	0.462000	0.41574	CAC		PASS	0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		6	40	6	40	---	---	---	---
NXPH4	11247	broad.mit.edu	37	12	57619107	57619107	+	Silent	SNP	G	G	T	rs147287568	byFrequency	TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:57619107G>T	ENST00000349394.5	+	2	679	c.504G>T	c.(502-504)ctG>ctT	p.L168L	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	168	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L168L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGTCTGGCTGCCCGGGCCTG	0.687																																						uc010srf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(502-504)CTG>CTT		neurexophilin 4 precursor		G		1,4405	2.1+/-5.4	0,1,2202	62.0	66.0	65.0		504	1.1	1.0	12	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NXPH4	NM_007224.3		0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231		168/309	57619107	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	11247				neuropeptide signaling pathway	extracellular region		g.chr12:57619107G>T	AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.504G>T	12.37:g.57619107G>T						NXPH4_uc009zpj.2_5'UTR	p.L168L	NM_007224	NP_009155	O95158	NXPH4_HUMAN			2	679	+			168			IV (linker domain).		A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	c.504G>T	CCDS8933.1																																																																																				PASS	0.687	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1	NM_007224		23	98	23	98	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66849249	66849249	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:66849249T>A	ENST00000398016.3	-	10	1206	c.1138A>T	c.(1138-1140)Acc>Tcc	p.T380S	GRIP1_ENST00000359742.4_Missense_Mutation_p.T432S|GRIP1_ENST00000286445.7_Missense_Mutation_p.T432S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.T380S(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTGGGCTGGTGGAGTAGAGG	0.488																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)ACC>TCC		glutamate receptor interacting protein 1							158.0	156.0	156.0					12																	66849249		1967	4163	6130	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66849249T>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1138A>T	12.37:g.66849249T>A	ENSP00000381098:p.Thr380Ser					GRIP1_uc010sta.1_Missense_Mutation_p.T324S|GRIP1_uc001stj.2_Missense_Mutation_p.T162S|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Missense_Mutation_p.T380S	p.T380S	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	10	1379	-			432					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1138A>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.86|11.86	1.765213|1.765213	0.31228|0.31228	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433	.|T;T;T;T;T	.|0.20463	.|2.17;2.07;2.07;2.16;2.23	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.098088	.|0.64402	.|D	.|0.000001	T|T	0.26448|0.26448	0.0646|0.0646	L|L	0.43152|0.43152	1.355|1.355	0.50813|0.50813	D|D	0.999891|0.999891	.|B;B;P	.|0.48503	.|0.082;0.317;0.911	.|B;B;P	.|0.47430	.|0.087;0.138;0.547	T|T	0.00953|0.00953	-1.1502|-1.1502	5|9	.|.	.|.	.|.	-18.2223|-18.2223	15.9405|15.9405	0.79750|0.79750	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|380;380;432	.|F5H4N6;Q9Y3R0-3;Q9Y3R0-2	.|.;.;.	L|S	199|380;432;432;380;324	.|ENSP00000381098:T380S;ENSP00000352780:T432S;ENSP00000286445:T432S;ENSP00000446047:T380S;ENSP00000446024:T324S	.|.	H|T	-|-	2|1	0|0	GRIP1|GRIP1	65135516|65135516	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.992000|0.992000	0.81027|0.81027	7.698000|7.698000	0.84413|0.84413	2.234000|2.234000	0.73211|0.73211	0.459000|0.459000	0.35465|0.35465	CAC|ACC		PASS	0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			41	141	41	141	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94649068	94649068	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:94649068C>T	ENST00000258526.4	+	17	3332	c.3083C>T	c.(3082-3084)cCt>cTt	p.P1028L	PLXNC1_ENST00000547057.1_Missense_Mutation_p.P75L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1028					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.P1028L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTTCTTCCCTGAGGTAAAA	0.413																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3082-3084)CCT>CTT		plexin C1 precursor							156.0	145.0	149.0					12																	94649068		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94649068C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3083C>T	12.37:g.94649068C>T	ENSP00000258526:p.Pro1028Leu					PLXNC1_uc010sut.1_Missense_Mutation_p.P75L	p.P1028L	NM_005761	NP_005752	O60486	PLXC1_HUMAN			17	3332	+			1028			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3083C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779896	0.90195	.	.	ENSG00000136040	ENST00000258526;ENST00000550080;ENST00000547057	T;T;T	0.12039	2.72;2.72;2.72	6.17	6.17	0.99709	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02877	-1.1099	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	75;1028	B4DHQ7;O60486	.;PLXC1_HUMAN	L	1028;75;75	ENSP00000258526:P1028L;ENSP00000447625:P75L;ENSP00000446720:P75L	ENSP00000258526:P1028L	P	+	2	0	PLXNC1	93173199	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.413	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			19	48	19	48	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99640175	99640175	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:99640175G>A	ENST00000547776.2	-	13	2223	c.2224C>T	c.(2224-2226)Ctc>Ttc	p.L742F	ANKS1B_ENST00000547010.1_Missense_Mutation_p.L322F|ANKS1B_ENST00000329257.7_Missense_Mutation_p.L742F|ANKS1B_ENST00000550833.1_5'Flank	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	742						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.L742F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAGGCAATGAGATCAGAATCA	0.408																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2224-2226)CTC>TTC		cajalin 2 isoform a							107.0	101.0	103.0					12																	99640175		1918	4105	6023	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640175G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2224C>T	12.37:g.99640175G>A	ENSP00000449629:p.Leu742Phe					ANKS1B_uc001tgf.1_Missense_Mutation_p.L322F|ANKS1B_uc001tgk.2_Missense_Mutation_p.L39F|ANKS1B_uc009ztt.1_Missense_Mutation_p.L708F	p.L742F	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2641	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	742					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2224C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060770	0.76074	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.76448	-0.19;-1.02;-0.19	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000002	D	0.85911	0.5807	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.991	D	0.84977	0.0886	9	.	.	.	-6.2627	17.2978	0.87173	0.0:0.0:1.0:0.0	.	322;742	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	F	742;322;742;321	ENSP00000449629:L742F;ENSP00000448512:L322F;ENSP00000331381:L742F	.	L	-	1	0	ANKS1B	98164306	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.820000	0.75267	2.586000	0.87340	0.462000	0.41574	CTC		PASS	0.408	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		23	62	23	62	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102155097	102155097	+	Silent	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:102155097T>C	ENST00000299314.7	-	15	3205	c.2943A>G	c.(2941-2943)tcA>tcG	p.S981S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	981					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.S981S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTTTGTGAAATGACGTCTTGT	0.373																																						uc001tit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2941-2943)TCA>TCG		N-acetylglucosamine-1-phosphate transferase							98.0	97.0	97.0					12																	102155097		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102155097T>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2943A>G	12.37:g.102155097T>C							p.S981S	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			15	3122	-			981					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.2943A>G	CCDS9088.1																																																																																				PASS	0.373	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			43	44	43	44	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	103984757	103984757	+	Missense_Mutation	SNP	C	C	T	rs201489210		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr12:103984757C>T	ENST00000388887.2	+	2	368	c.164C>T	c.(163-165)cCg>cTg	p.P55L	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.P55L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCAAGTGCCCGGATGGTTAC	0.443																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(163-165)CCG>CTG		stabilin 2 precursor							135.0	130.0	132.0					12																	103984757		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103984757C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.164C>T	12.37:g.103984757C>T	ENSP00000373539:p.Pro55Leu						p.P55L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			2	350	+			55			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.164C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678163	0.47886	.	.	ENSG00000136011	ENST00000388887	T	0.48201	0.82	6.02	4.22	0.49857	.	0.064454	0.64402	N	0.000006	T	0.56572	0.1994	M	0.88570	2.965	0.52501	D	0.999951	D	0.64830	0.994	P	0.47626	0.552	T	0.59867	-0.7373	10	0.23302	T	0.38	.	10.2016	0.43087	0.0:0.8456:0.0:0.1544	.	55	Q8WWQ8	STAB2_HUMAN	L	55	ENSP00000373539:P55L	ENSP00000373539:P55L	P	+	2	0	STAB2	102508887	0.989000	0.36119	0.684000	0.30055	0.004000	0.04260	3.218000	0.51192	0.897000	0.36392	-0.140000	0.14226	CCG		PASS	0.443	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			79	57	79	57	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23928866	23928866	+	Missense_Mutation	SNP	C	C	T	rs149638449		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr13:23928866C>T	ENST00000382292.3	-	7	2158	c.1885G>A	c.(1885-1887)Gcg>Acg	p.A629T	SACS_ENST00000382298.3_Missense_Mutation_p.A629T|SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	629					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.A482T(1)|p.A629T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGCACCCACGCGGGCGTCACC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18373	0.0		0.0	False		,,,				2504	0.001					uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1885-1887)GCG>ACG		sacsin		C	THR/ALA	0,4406		0,0,2203	61.0	58.0	59.0		1885	4.9	0.0	13	dbSNP_134	59	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SACS	NM_014363.4	58	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	629/4580	23928866	6,13000	2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23928866C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1885G>A	13.37:g.23928866C>T	ENSP00000371729:p.Ala629Thr					SACS_uc001uoo.2_Missense_Mutation_p.A482T|SACS_uc001uop.1_Missense_Mutation_p.A416T|SACS_uc001uoq.1_Missense_Mutation_p.A482T	p.A629T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2474	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	629					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1885G>A	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.026|9.026	0.986133|0.986133	0.18889|0.18889	0.0|0.0	6.98E-4|6.98E-4	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156|ENST00000455470	T;T;T|.	0.11385|.	2.78;2.78;2.78|.	5.74|5.74	4.9|4.9	0.64082|0.64082	.|.	0.230912|.	0.45867|.	D|.	0.000339|.	T|T	0.57066|0.57066	0.2028|0.2028	M|M	0.63428|0.63428	1.95|1.95	0.22975|0.22975	N|N	0.998488|0.998488	B;B;B|.	0.12630|.	0.005;0.006;0.0|.	B;B;B|.	0.12837|.	0.006;0.008;0.001|.	T|T	0.51379|0.51379	-0.8713|-0.8713	10|5	0.33940|.	T|.	0.23|.	.|.	14.9271|14.9271	0.70887|0.70887	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	528;416;629|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	T|H	629;629;253|528	ENSP00000371729:A629T;ENSP00000371735:A629T;ENSP00000390925:A253T|.	ENSP00000371729:A629T|.	A|R	-|-	1|2	0|0	SACS|SACS	22826866|22826866	0.755000|0.755000	0.28372|0.28372	0.030000|0.030000	0.17652|0.17652	0.334000|0.334000	0.28698|0.28698	1.652000|1.652000	0.37313|0.37313	1.568000|1.568000	0.49683|0.49683	0.561000|0.561000	0.74099|0.74099	GCG|CGC		PASS	0.562	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		51	14	51	14	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25341415	25341415	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr13:25341415C>T	ENST00000255324.5	+	2	188	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	RNF17_ENST00000255325.6_Missense_Mutation_p.H46Y|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.H46Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	46					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.H46Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATAGGTCACCATTGTGAACT	0.378																																						uc001upr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(136-138)CAT>TAT		ring finger protein 17							177.0	157.0	164.0					13																	25341415		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25341415C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.136C>T	13.37:g.25341415C>T	ENSP00000255324:p.His46Tyr					RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H46Y|RNF17_uc001ups.2_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.H46Y	p.H46Y	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	2	177	+		Lung SC(185;0.0225)|Breast(139;0.077)	46			RING-type.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.136C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	1.401	-0.578184	0.03854	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85339	-1.97;-1.97;-1.97	4.57	1.92	0.25849	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.251291	0.28398	N	0.015492	T	0.71134	0.3304	N	0.19112	0.55	0.20074	N	0.999935	B;B;B	0.14012	0.001;0.001;0.009	B;B;B	0.15484	0.001;0.001;0.013	T	0.59289	-0.7482	10	0.46703	T	0.11	.	6.2693	0.20945	0.0:0.6859:0.0:0.3141	.	46;46;46	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	Y	46	ENSP00000255324:H46Y;ENSP00000371346:H46Y;ENSP00000255325:H46Y	ENSP00000255324:H46Y	H	+	1	0	RNF17	24239415	0.612000	0.27000	0.279000	0.24732	0.009000	0.06853	0.901000	0.28445	0.177000	0.19895	-0.225000	0.12378	CAT		PASS	0.378	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		18	41	18	41	---	---	---	---
COG6	57511	broad.mit.edu	37	13	40261703	40261703	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr13:40261703G>A	ENST00000455146.3	+	9	902	c.852G>A	c.(850-852)gcG>gcA	p.A284A	COG6_ENST00000416691.1_Silent_p.A284A	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	284					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A284A(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTATTGATGCGCTCACAAGAG	0.413																																						uc001uxh.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(850-852)GCG>GCA		component of oligomeric golgi complex 6 isoform							97.0	98.0	97.0					13																	40261703		2203	4300	6503	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40261703G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.852G>A	13.37:g.40261703G>A						COG6_uc001uxi.2_Silent_p.A232A|COG6_uc010acb.2_Silent_p.A284A	p.A284A	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	9	952	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	284					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.852G>A	CCDS9370.1																																																																																				PASS	0.413	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			41	53	41	53	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249180	20249180	+	Missense_Mutation	SNP	G	G	T	rs142051783		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:20249180G>T	ENST00000315957.4	+	1	780	c.699G>T	c.(697-699)gaG>gaT	p.E233D		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E233D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCAGGTGAGAATACCAACA	0.463																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GAG>GAT		olfactory receptor, family 4, subfamily M,							340.0	289.0	307.0					14																	20249180		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249180G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.699G>T	14.37:g.20249180G>T	ENSP00000319654:p.Glu233Asp						p.E233D	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	699	+	all_cancers(95;0.00108)		233			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.699G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	8.613	0.889542	0.17540	.	.	ENSG00000176299	ENST00000315957	T	0.00115	8.71	4.42	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.147283	0.32068	N	0.006636	T	0.00300	0.0009	M	0.70595	2.14	0.30627	N	0.757924	D	0.58268	0.982	P	0.54629	0.757	T	0.39840	-0.9594	10	0.87932	D	0	-13.618	10.4662	0.44609	0.0962:0.0:0.9038:0.0	.	233	Q8NGD0	OR4M1_HUMAN	D	233	ENSP00000319654:E233D	ENSP00000319654:E233D	E	+	3	2	OR4M1	19319020	0.002000	0.14202	0.999000	0.59377	0.331000	0.28603	0.023000	0.13533	1.230000	0.43646	-0.360000	0.07572	GAG		PASS	0.463	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			56	266	56	266	---	---	---	---
TBPL2	387332	broad.mit.edu	37	14	55903639	55903639	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:55903639G>A	ENST00000247219.5	-	2	318	c.248C>T	c.(247-249)tCg>tTg	p.S83L		NM_199047.2	NP_950248.1			TATA box binding protein like 2									p.S83L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTCAGGGTTCGAATTAAATGC	0.448																																						uc001xby.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TCG>TTG		TATA box binding protein like 2							117.0	115.0	116.0					14																	55903639		2203	4300	6503	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903639G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.248C>T	14.37:g.55903639G>A	ENSP00000247219:p.Ser83Leu						p.S83L	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			2	248	-			83						Missense_Mutation	SNP	ENST00000247219.5	37	c.248C>T	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	G	4.279	0.050997	0.08243	.	.	ENSG00000182521	ENST00000247219;ENST00000556755	T	0.49720	0.77	4.89	3.99	0.46301	.	0.534905	0.20171	N	0.097728	T	0.37433	0.1003	L	0.55481	1.735	0.09310	N	1	P	0.44659	0.84	B	0.31390	0.129	T	0.32402	-0.9908	10	0.48119	T	0.1	0.0089	12.2928	0.54827	0.0819:0.0:0.9181:0.0	.	83	Q6SJ96	TBPL2_HUMAN	L	83;15	ENSP00000247219:S83L	ENSP00000247219:S83L	S	-	2	0	TBPL2	54973392	0.995000	0.38212	0.002000	0.10522	0.008000	0.06430	3.122000	0.50446	1.281000	0.44480	0.563000	0.77884	TCG		PASS	0.448	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		50	103	50	103	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73437657	73437657	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:73437657G>A	ENST00000556143.1	-	12	2987	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	ZFYVE1_ENST00000555072.1_Missense_Mutation_p.P341L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.P742L|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.P756L|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.P341L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	756					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.P756L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCCACGAGAAGGAACAGCCCG	0.592																																						uc001xnm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2266-2268)CCT>CTT		zinc finger, FYVE domain containing 1 isoform 1							71.0	70.0	71.0					14																	73437657		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73437657G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2267C>T	14.37:g.73437657G>A	ENSP00000450742:p.Pro756Leu					ZFYVE1_uc001xnl.2_Missense_Mutation_p.P341L|ZFYVE1_uc010arj.2_Missense_Mutation_p.P742L	p.P756L	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	12	2907	-		all_lung(585;1.33e-09)	756			FYVE-type 2.		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.2267C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310459	0.95629	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.97110	0.895;1.0	D	0.90934	0.4792	10	0.62326	D	0.03	-19.2164	18.3421	0.90309	0.0:0.0:1.0:0.0	.	756;756	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	L	756;742;756;341;341	ENSP00000452442:P756L;ENSP00000326921:P742L;ENSP00000450742:P756L;ENSP00000377757:P341L;ENSP00000452232:P341L	ENSP00000326921:P756L	P	-	2	0	ZFYVE1	72507410	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.804000	0.99143	2.332000	0.79248	0.655000	0.94253	CCT		PASS	0.592	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		46	97	46	97	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91444752	91444752	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:91444752T>C	ENST00000261991.3	-	3	465	c.292A>G	c.(292-294)Aca>Gca	p.T98A	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.T98A|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T19A	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	98	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T98A(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCTGTCCTTGTATGCTCTGTG	0.393																																						uc001xys.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(292-294)ACA>GCA		ribosomal protein S6 kinase, polypeptide 5							357.0	275.0	303.0					14																	91444752		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91444752T>C	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.292A>G	14.37:g.91444752T>C	ENSP00000261991:p.Thr98Ala					RPS6KA5_uc010twi.1_Missense_Mutation_p.T19A|RPS6KA5_uc001xyt.2_Missense_Mutation_p.T98A|RPS6KA5_uc010att.1_RNA	p.T98A	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	3	507	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	98			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.292A>G	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219374	0.58560	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.22945	1.93;1.93;1.93	5.89	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	N	0.02775	-0.495	0.80722	D	1	P;D	0.69078	0.822;0.997	B;D	0.75484	0.393;0.986	T	0.42015	-0.9476	10	0.87932	D	0	.	11.7635	0.51918	0.0:0.0686:0.0:0.9314	.	98;98	O75582-2;O75582	.;KS6A5_HUMAN	A	98;19;98	ENSP00000261991:T98A;ENSP00000442803:T19A;ENSP00000402787:T98A	ENSP00000261991:T98A	T	-	1	0	RPS6KA5	90514505	1.000000	0.71417	0.548000	0.28192	0.196000	0.23810	5.977000	0.70492	1.049000	0.40321	0.455000	0.32223	ACA		PASS	0.393	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		67	64	67	64	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100835456	100835456	+	Missense_Mutation	SNP	C	C	T	rs146689917		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:100835456C>T	ENST00000355338.2	-	2	685	c.67G>A	c.(67-69)Gta>Ata	p.V23I	WARS_ENST00000392882.2_Missense_Mutation_p.V23I|WARS_ENST00000344102.5_Intron|WARS_ENST00000358655.4_Intron|WARS_ENST00000557135.1_Missense_Mutation_p.V23I|WARS_ENST00000556645.1_Intron	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	23	WHEP-TRS. {ECO:0000255|PROSITE- ProRule:PRU00531}.				angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.V23I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AGGGACCTTACGAGCTCCCCT	0.542																																						uc001yhf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(67-69)GTA>ATA		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)	C	ILE/VAL,ILE/VAL,,	1,4405	2.1+/-5.4	0,1,2202	137.0	111.0	120.0		67,67,,	4.2	0.0	14	dbSNP_134	120	0,8600		0,0,4300	no	missense,missense,intron,intron	WARS	NM_004184.3,NM_173701.1,NM_213645.1,NM_213646.1	29,29,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,,	23/472,23/472,,	100835456	1,13005	2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100835456C>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.67G>A	14.37:g.100835456C>T	ENSP00000347495:p.Val23Ile					WARS_uc001yhg.1_Missense_Mutation_p.V23I|WARS_uc001yhh.1_Missense_Mutation_p.V23I|WARS_uc001yhi.1_Intron|WARS_uc001yhj.1_Intron|WARS_uc001yhk.1_Intron|WARS_uc001yhl.1_Missense_Mutation_p.V23I|WARS_uc010twz.1_Missense_Mutation_p.V23I	p.V23I	NM_173701	NP_776049	P23381	SYWC_HUMAN			1	151	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	23			WHEP-TRS.		A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.67G>A	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736843	0.30774	2.27E-4	0.0	ENSG00000140105	ENST00000392882;ENST00000355338;ENST00000557135;ENST00000557722;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413;ENST00000553769;ENST00000553545;ENST00000554820;ENST00000554509;ENST00000556209;ENST00000554605;ENST00000555813;ENST00000556695;ENST00000556295;ENST00000555031;ENST00000553934;ENST00000553581	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.97;0.24;0.24;0.24;0.24;0.24;0.24;0.97;0.24;0.24;0.24;0.24;0.24;0.24;0.97	5.14	4.22	0.49857	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.060730	0.64402	D	0.000004	T	0.51787	0.1695	M	0.61387	1.9	0.80722	D	1	B	0.33841	0.428	B	0.26310	0.068	T	0.55611	-0.8114	10	0.52906	T	0.07	-3.2306	12.9721	0.58517	0.0:0.8368:0.1632:0.0	.	23	P23381	SYWC_HUMAN	I	23	ENSP00000376620:V23I;ENSP00000347495:V23I;ENSP00000451460:V23I;ENSP00000450500:V23I;ENSP00000450427:V23I;ENSP00000451349:V23I;ENSP00000450934:V23I;ENSP00000451469:V23I;ENSP00000451402:V23I;ENSP00000452550:V23I;ENSP00000451906:V23I;ENSP00000451716:V23I;ENSP00000450563:V23I;ENSP00000451894:V23I;ENSP00000451027:V23I;ENSP00000450978:V23I;ENSP00000451953:V23I;ENSP00000451777:V23I;ENSP00000451377:V23I;ENSP00000450623:V23I;ENSP00000452379:V23I	ENSP00000347495:V23I	V	-	1	0	WARS	99905209	0.972000	0.33761	0.027000	0.17364	0.033000	0.12548	2.337000	0.43947	1.258000	0.44101	0.655000	0.94253	GTA		PASS	0.542	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		22	69	22	69	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103599089	103599089	+	Silent	SNP	A	A	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:103599089A>C	ENST00000560869.1	+	9	2064	c.1425A>C	c.(1423-1425)ccA>ccC	p.P475P	TNFAIP2_ENST00000451723.2_Silent_p.P144P|TNFAIP2_ENST00000333007.1_Silent_p.P475P|TNFAIP2_ENST00000538222.1_5'UTR			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	475					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.P475P(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGTCTCAGCCACTGTTCAAGA	0.607																																						uc001ymm.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1423-1425)CCA>CCC		tumor necrosis factor, alpha-induced protein 2							40.0	40.0	40.0					14																	103599089		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103599089A>C		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1425A>C	14.37:g.103599089A>C						TNFAIP2_uc010awo.1_Silent_p.P187P|TNFAIP2_uc010txz.1_Silent_p.P144P|TNFAIP2_uc010tya.1_5'UTR	p.P475P	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		8	1556	+		Melanoma(154;0.155)	475					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.1425A>C	CCDS9979.1																																																																																				PASS	0.607	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		11	23	11	23	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106174701	106174701	+	RNA	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr14:106174701C>A	ENST00000390547.2	-	0	301							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CTGACCTGGGCAGGGCACAGT	0.682																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							48.0	62.0	58.0					14																	106174701		2097	4237	6334			8755							g.chr14:106174701C>A	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174701C>A						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron								3631		-									RNA	SNP	ENST00000390547.2	37	c.59633G>T																																																																																					PASS	0.682	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		3	48	3	48	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28357016	28357016	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:28357016C>T	ENST00000261609.7	-	93	14506	c.14398G>A	c.(14398-14400)Gca>Aca	p.A4800T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.A4800T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGTAAGTGCGATGCGAGCG	0.527																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(14398-14400)GCA>ACA		hect domain and RLD 2							107.0	92.0	97.0					15																	28357016		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28357016C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14398G>A	15.37:g.28357016C>T	ENSP00000261609:p.Ala4800Thr					HERC2_uc001zbi.2_Missense_Mutation_p.A489T	p.A4800T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	93	14504	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4800						Missense_Mutation	SNP	ENST00000261609.7	37	c.14398G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601958	0.87055	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.43923	1.385	0.80722	D	1	D;P	0.89917	1.0;0.647	D;B	0.70935	0.971;0.082	T	0.52373	-0.8584	10	0.42905	T	0.14	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	4800;489	O95714;Q8ND39	HERC2_HUMAN;.	T	4800	ENSP00000261609:A4800T	ENSP00000261609:A4800T	A	-	1	0	HERC2	26030611	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.811000	0.86092	2.835000	0.97688	0.650000	0.86243	GCA		PASS	0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		20	62	20	62	---	---	---	---
KBTBD13	390594	broad.mit.edu	37	15	65370042	65370042	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:65370042G>A	ENST00000432196.2	+	1	889	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	297					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.G297S(1)		lung(1)|prostate(1)|skin(1)	3						GCCGGCCGCCGGCGTGCCCTG	0.731																																						uc010uis.1																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGC>AGC		hypothetical protein LOC390594							4.0	6.0	5.0					15																	65370042		1333	3188	4521	SO:0001583	missense	390594					cytoplasm		g.chr15:65370042G>A		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.889G>A	15.37:g.65370042G>A	ENSP00000388723:p.Gly297Ser					RASL12_uc010uir.1_5'Flank	p.G297S	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN			1	889	+			297			Kelch 3.			Missense_Mutation	SNP	ENST00000432196.2	37	c.889G>A	CCDS45281.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.466355	0.01053	.	.	ENSG00000234438	ENST00000432196	T	0.68479	-0.33	5.29	3.43	0.39272	Kelch-type beta propeller (1);	.	.	.	.	T	0.51958	0.1705	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32851	-0.9891	9	0.23302	T	0.38	.	11.7896	0.52061	0.1443:0.0:0.8557:0.0	.	297	C9JR72	KBTBD_HUMAN	S	297	ENSP00000388723:G297S	ENSP00000388723:G297S	G	+	1	0	KBTBD13	63157095	0.525000	0.26290	0.014000	0.15608	0.004000	0.04260	2.320000	0.43797	0.626000	0.30322	-0.751000	0.03497	GGC		PASS	0.731	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		4	3	4	3	---	---	---	---
VWA9	81556	broad.mit.edu	37	15	65885801	65885801	+	Silent	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:65885801T>C	ENST00000395644.4	-	8	1286	c.951A>G	c.(949-951)ctA>ctG	p.L317L	VWA9_ENST00000431261.2_Silent_p.L238L|VWA9_ENST00000567744.1_Silent_p.L353L|VWA9_ENST00000442903.3_Silent_p.L281L|VWA9_ENST00000420799.2_Silent_p.L260L|VWA9_ENST00000569491.1_Silent_p.L267L|VWA9_ENST00000313182.2_Silent_p.L317L			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	317								p.L317L(1)									CTTCCACTTTTAGGCTACCAT	0.383																																						uc002apd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(949-951)CTA>CTG		hypothetical protein LOC81556 isoform 2							176.0	149.0	158.0					15																	65885801		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65885801T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.951A>G	15.37:g.65885801T>C						C15orf44_uc010uix.1_Silent_p.L353L|C15orf44_uc010uiz.1_Silent_p.L281L|C15orf44_uc010uja.1_Silent_p.L267L|C15orf44_uc010ujb.1_Silent_p.L238L|C15orf44_uc002ape.3_Silent_p.L317L|C15orf44_uc010uiy.1_Silent_p.L238L	p.L317L	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			8	1287	-			317					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.951A>G																																																																																					PASS	0.383	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		63	79	63	79	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77472963	77472963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:77472963C>A	ENST00000560626.2	-	4	1781	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E436*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E436*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	436					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E436*(2)									GCTTTACTTTCTTCCTTCTCA	0.443																																						uc002bcm.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1306-1308)GAA>TAA		NKF3 kinase family member							206.0	188.0	194.0					15																	77472963		1910	4140	6050	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472963C>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1306G>T	15.37:g.77472963C>A	ENSP00000452796:p.Glu436*					SGK269_uc002bcn.2_Nonsense_Mutation_p.E436*	p.E436*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	1614	-			436					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.1306G>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	40	8.228840	0.98717	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.3825	17.5782	0.87957	0.0:1.0:0.0:0.0	.	.	.	.	X	436	.	ENSP00000309230:E436X	E	-	1	0	AC087465.1	75260018	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.355000	0.79434	2.580000	0.87095	0.555000	0.69702	GAA		PASS	0.443	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			74	172	74	172	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749217	79749217	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:79749217C>G	ENST00000305428.3	+	2	803	c.728C>G	c.(727-729)tCc>tGc	p.S243C		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	243						integral component of membrane (GO:0016021)		p.S243C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCTTCATTTCCAATGAGGAG	0.478																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(727-729)TCC>TGC		hypothetical protein LOC23251							72.0	75.0	74.0					15																	79749217		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749217C>G	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.728C>G	15.37:g.79749217C>G	ENSP00000307461:p.Ser243Cys					KIAA1024_uc010unk.1_Missense_Mutation_p.S243C	p.S243C	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	803	+			243					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.728C>G	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936584	0.34189	.	.	ENSG00000169330	ENST00000305428	T	0.34472	1.36	5.1	5.1	0.69264	.	0.506526	0.21925	N	0.067108	T	0.39036	0.1063	L	0.60455	1.87	0.09310	N	0.999998	P	0.35527	0.507	B	0.37091	0.241	T	0.31475	-0.9942	9	.	.	.	.	16.6985	0.85342	0.0:1.0:0.0:0.0	.	243	Q9UPX6	K1024_HUMAN	C	243	ENSP00000307461:S243C	.	S	+	2	0	KIAA1024	77536272	0.006000	0.16342	0.005000	0.12908	0.981000	0.71138	2.082000	0.41605	2.355000	0.79922	0.591000	0.81541	TCC		PASS	0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		40	71	40	71	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86087101	86087101	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:86087101C>T	ENST00000394518.2	+	5	672	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	AKAP13_ENST00000361243.2_Missense_Mutation_p.L193F	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	193					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.L193F(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCGCGGAGCTCTCAGTATCCA	0.582																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(577-579)CTC>TTC		A-kinase anchor protein 13 isoform 2							78.0	72.0	74.0					15																	86087101		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86087101C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.577C>T	15.37:g.86087101C>T	ENSP00000378026:p.Leu193Phe					AKAP13_uc002blt.1_Missense_Mutation_p.L193F|AKAP13_uc002blu.1_Missense_Mutation_p.L193F	p.L193F	NM_007200	NP_009131	Q12802	AKP13_HUMAN			5	747	+			193					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.577C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644056	0.87859	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.38560	1.13;1.13	5.62	4.7	0.59300	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.60130	0.2245	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61043	-0.7142	9	0.59425	D	0.04	.	13.0529	0.58964	0.0:0.9233:0.0:0.0767	.	193;193	Q12802;Q12802-2	AKP13_HUMAN;.	F	193;193;192;192	ENSP00000354718:L193F;ENSP00000378026:L193F	ENSP00000354718:L193F	L	+	1	0	AKAP13	83888105	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.003000	0.63959	2.648000	0.89879	0.563000	0.77884	CTC		PASS	0.582	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		43	43	43	43	---	---	---	---
SOX8	30812	broad.mit.edu	37	16	1034928	1034928	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:1034928G>A	ENST00000293894.3	+	3	998	c.883G>A	c.(883-885)Gcc>Acc	p.A295T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	295					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A295T(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GGGCGGCCCCGCCCCACCCGA	0.716																																						uc002ckn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(883-885)GCC>ACC		SRY (sex determining region Y)-box 8							12.0	14.0	14.0					16																	1034928		2180	4276	6456	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034928G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.883G>A	16.37:g.1034928G>A	ENSP00000293894:p.Ala295Thr						p.A295T	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	998	+		Hepatocellular(780;0.00308)	295					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.883G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	2.483	-0.319221	0.05386	.	.	ENSG00000005513	ENST00000293894	T	0.76709	-1.04	4.17	0.252	0.15545	.	1.737730	0.03097	N	0.160603	T	0.65460	0.2693	L	0.29908	0.895	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.41324	-0.9515	10	0.21540	T	0.41	.	5.4993	0.16819	0.1207:0.0848:0.5815:0.213	.	295	P57073	SOX8_HUMAN	T	295	ENSP00000293894:A295T	ENSP00000293894:A295T	A	+	1	0	SOX8	974929	0.002000	0.14202	0.066000	0.19879	0.001000	0.01503	1.047000	0.30367	-0.146000	0.11274	-0.283000	0.09986	GCC		PASS	0.716	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			9	14	9	14	---	---	---	---
NTN3	4917	broad.mit.edu	37	16	2522769	2522769	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:2522769C>T	ENST00000293973.1	+	2	1199	c.996C>T	c.(994-996)cgC>cgT	p.R332R	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	332	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.R332R(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGTCCGGCCGCCGCAGCGGGG	0.687																																						uc002cqj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(994-996)CGC>CGT		netrin 3 precursor							30.0	38.0	35.0					16																	2522769		2184	4276	6460	SO:0001819	synonymous_variant	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522769C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.996C>T	16.37:g.2522769C>T						TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	p.R332R	NM_006181	NP_006172	O00634	NET3_HUMAN			2	1199	+			332			Laminin EGF-like 2.			Silent	SNP	ENST00000293973.1	37	c.996C>T	CCDS10469.1																																																																																				PASS	0.687	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		22	79	22	79	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17202563	17202563	+	Silent	SNP	G	G	T	rs546484907		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:17202563G>T	ENST00000261381.6	-	12	2953	c.2869C>A	c.(2869-2871)Cgg>Agg	p.R957R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	957					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R957R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTGAGCCGGCCATCAGGT	0.672																																						uc002dfa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2869-2871)CGG>AGG		xylosyltransferase I							23.0	20.0	21.0					16																	17202563		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202563G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2869C>A	16.37:g.17202563G>T							p.R957R	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2954	-			957			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2869C>A	CCDS10569.1																																																																																				PASS	0.672	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		11	22	11	22	---	---	---	---
GPRC5B	51704	broad.mit.edu	37	16	19883337	19883337	+	Silent	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:19883337C>G	ENST00000300571.2	-	2	1022	c.831G>C	c.(829-831)gcG>gcC	p.A277A	GPRC5B_ENST00000569847.1_Silent_p.A277A|GPRC5B_ENST00000535671.1_Silent_p.A277A|GPRC5B_ENST00000537135.1_Silent_p.A303A|GPRC5B_ENST00000569479.1_Silent_p.A277A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	277					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.A277A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCGCTGGCCGCCAGCGTGA	0.612																																						uc002dgt.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(829-831)GCG>GCC		G protein-coupled receptor, family C, group 5,							63.0	68.0	66.0					16																	19883337		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883337C>G	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.831G>C	16.37:g.19883337C>G						GPRC5B_uc010vav.1_Silent_p.A303A	p.A277A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			2	939	-			277			Helical; Name=7; (Potential).		D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.831G>C	CCDS10581.1																																																																																				PASS	0.612	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			32	26	32	26	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921729	24921729	+	Missense_Mutation	SNP	C	C	A	rs148456649		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:24921729C>A	ENST00000347898.3	+	15	2375	c.1753C>A	c.(1753-1755)Cca>Aca	p.P585T	SLC5A11_ENST00000567758.1_Missense_Mutation_p.P550T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P515T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P521T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P521T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P550T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P515T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P429T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P429T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.P585T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAACGGGATGCCAGAGGCCAG	0.552																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1753-1755)CCA>ACA		solute carrier family 5 (sodium/glucose							108.0	88.0	95.0					16																	24921729		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921729C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1753C>A	16.37:g.24921729C>A	ENSP00000289932:p.Pro585Thr					SLC5A11_uc002dms.2_Missense_Mutation_p.P521T|SLC5A11_uc010vcd.1_Missense_Mutation_p.P550T|SLC5A11_uc002dmt.2_Missense_Mutation_p.P429T|SLC5A11_uc010vce.1_Missense_Mutation_p.P515T|SLC5A11_uc010bxt.2_Missense_Mutation_p.P521T|SLC5A11_uc002dmv.2_Missense_Mutation_p.P208T	p.P585T	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	1985	+			585			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.1753C>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914626	0.33815	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.39	-7.9	0.01169	.	2.029970	0.01502	N	0.017534	T	0.44498	0.1296	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.002;0.001	B;B;B;B	0.11329	0.002;0.006;0.003;0.001	T	0.15263	-1.0443	10	0.27785	T	0.31	.	2.1856	0.03886	0.4133:0.1495:0.294:0.1433	.	515;550;585;429	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	585;429;550;515;521	ENSP00000289932:P585T;ENSP00000389606:P429T;ENSP00000416782:P550T;ENSP00000441384:P515T;ENSP00000441018:P521T	ENSP00000289932:P585T	P	+	1	0	SLC5A11	24829230	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-1.435000	0.02423	-1.093000	0.03058	0.514000	0.50259	CCA		PASS	0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		44	43	44	43	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891243	29891243	+	Silent	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:29891243G>T	ENST00000308713.5	-	9	2042	c.1515C>A	c.(1513-1515)gcC>gcA	p.A505A	SEZ6L2_ENST00000537485.1_Silent_p.A461A|SEZ6L2_ENST00000350527.3_Silent_p.A435A|SEZ6L2_ENST00000346932.5_Silent_p.A391A	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	505	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A505A(1)|p.A435A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATTCGATGGCATTGGGGG	0.607																																						uc002duq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1513-1515)GCC>GCA		seizure related 6 homolog (mouse)-like 2 isoform							139.0	136.0	137.0					16																	29891243		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891243G>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1515C>A	16.37:g.29891243G>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.A435A|SEZ6L2_uc002dur.3_Silent_p.A435A|SEZ6L2_uc002dus.3_Silent_p.A391A|SEZ6L2_uc010vec.1_Silent_p.A505A|SEZ6L2_uc010ved.1_Silent_p.A461A	p.A505A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			9	1755	-			505			Sushi 2.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.1515C>A	CCDS10659.1																																																																																				PASS	0.607	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		133	131	133	131	---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49430384	49430384	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:49430384C>A	ENST00000299191.3	+	4	562	c.445C>A	c.(445-447)Cca>Aca	p.P149T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	149						nucleus (GO:0005634)		p.P149T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCGGCCAAACCCATTCCGTCG	0.498																																						uc002efr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(445-447)CCA>ACA		hypothetical protein LOC123970							101.0	94.0	96.0					16																	49430384		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49430384C>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.445C>A	16.37:g.49430384C>A	ENSP00000299191:p.Pro149Thr						p.P149T	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			4	488	+			149						Missense_Mutation	SNP	ENST00000299191.3	37	c.445C>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.424578	0.01126	.	.	ENSG00000166152	ENST00000299191	T	0.42513	0.97	4.63	-9.25	0.00666	.	2.282210	0.01935	N	0.041510	T	0.21718	0.0523	L	0.27053	0.805	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.09707	-1.0662	9	.	.	.	-0.1555	1.7985	0.03066	0.3399:0.113:0.0954:0.4517	.	149	Q8WTQ4	CP078_HUMAN	T	149	ENSP00000299191:P149T	.	P	+	1	0	C16orf78	47987885	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.645000	0.00204	-2.094000	0.00854	-0.345000	0.07892	CCA		PASS	0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		63	50	63	50	---	---	---	---
TMEM208	29100	broad.mit.edu	37	16	67262945	67262945	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:67262945G>T	ENST00000304800.9	+	6	557	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TMEM208_ENST00000565201.1_3'UTR|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|TMEM208_ENST00000563426.1_3'UTR|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.G81C	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	151					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G151C(1)		breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGCAGACAGTGGCACCCCAGC	0.587																																						uc002esi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GGC>TGC		HSPC171 protein							46.0	48.0	47.0					16																	67262945		1866	4123	5989	SO:0001583	missense	29100					integral to membrane		g.chr16:67262945G>T		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.451G>T	16.37:g.67262945G>T	ENSP00000305892:p.Gly151Cys					LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	p.G151C	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	6	557	+		Ovarian(137;0.0563)	151			Helical; (Potential).		Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.451G>T	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370949	0.42003	.	.	ENSG00000168701	ENST00000304800	T	0.30714	1.52	5.03	3.06	0.35304	.	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.19575	N	0.999962	P	0.41265	0.744	P	0.45474	0.482	T	0.07712	-1.0758	9	0.66056	D	0.02	.	5.1741	0.15126	0.1694:0.0:0.5894:0.2412	.	151	Q9BTX3	TM208_HUMAN	C	151	ENSP00000305892:G151C	ENSP00000305892:G151C	G	+	1	0	TMEM208	65820446	0.989000	0.36119	0.855000	0.33649	0.934000	0.57294	2.086000	0.41643	0.785000	0.33685	-0.258000	0.10820	GGC		PASS	0.587	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		4	101	4	101	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75149143	75149143	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:75149143G>T	ENST00000450168.2	-	3	330	c.280C>A	c.(280-282)Cca>Aca	p.P94T	LDHD_ENST00000300051.4_Missense_Mutation_p.P94T	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.P94T(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GTGCCGAATGGGATGATGGGC	0.657																																						uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)CCA>ACA		D-lactate dehydrogenase isoform 1 precursor							88.0	88.0	88.0					16																	75149143		2198	4300	6498	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149143G>T	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.280C>A	16.37:g.75149143G>T	ENSP00000417011:p.Pro94Thr					LDHD_uc002fdn.2_Missense_Mutation_p.P94T	p.P94T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			3	327	-			94			FAD-binding PCMH-type.			Missense_Mutation	SNP	ENST00000450168.2	37	c.280C>A	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623032	0.87460	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.96619	-4.07;-4.07	5.05	5.05	0.67936	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99113	1.0847	10	0.87932	D	0	-16.3678	18.4077	0.90541	0.0:0.0:1.0:0.0	.	94;94	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	T	94	ENSP00000417011:P94T;ENSP00000300051:P94T	ENSP00000300051:P94T	P	-	1	0	LDHD	73706644	1.000000	0.71417	0.990000	0.47175	0.789000	0.44602	8.712000	0.91403	2.363000	0.80096	0.462000	0.41574	CCA		PASS	0.657	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		40	122	40	122	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84214991	84214991	+	Silent	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:84214991C>A	ENST00000567759.1	-	10	1367	c.1185G>T	c.(1183-1185)gcG>gcT	p.A395A	TAF1C_ENST00000341690.6_Silent_p.A302A|TAF1C_ENST00000541676.1_Silent_p.A302A|TAF1C_ENST00000378541.4_Silent_p.A395A|TAF1C_ENST00000570117.1_Silent_p.A63A|TAF1C_ENST00000566732.1_Silent_p.A369A	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	395					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.A395A(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCCGAGGGTGCGCAGTGAAGT	0.662																																						uc002fhn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1183-1185)GCG>GCT		TBP-associated factor 1C isoform 1							49.0	46.0	47.0					16																	84214991		2200	4299	6499	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84214991C>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1185G>T	16.37:g.84214991C>A						TAF1C_uc002fhm.2_Silent_p.A302A|TAF1C_uc010vnx.1_Silent_p.A369A|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.A63A|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.A63A|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	p.A395A	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			10	1413	-			395					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1185G>T	CCDS32496.1																																																																																				PASS	0.662	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		16	9	16	9	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84529384	84529384	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:84529384G>A	ENST00000343629.6	-	3	471	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Missense_Mutation_p.H70Y	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	97			H -> Q (in dbSNP:rs8055536).			lysosomal membrane (GO:0005765)		p.H97Y(1)									TTCAACAGGTGGGACATGGAT	0.527																																						uc002fib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(289-291)CAC>TAC		hypothetical protein LOC57707							143.0	119.0	127.0					16																	84529384		2200	4300	6500	SO:0001583	missense	57707						protein binding	g.chr16:84529384G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.289C>T	16.37:g.84529384G>A	ENSP00000343635:p.His97Tyr					KIAA1609_uc010vod.1_Missense_Mutation_p.H70Y|KIAA1609_uc002fic.2_RNA	p.H97Y	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			3	396	-			97					Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.289C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	4.206	0.036966	0.08148	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.14516	2.5;2.5	5.56	-3.41	0.04839	.	0.287831	0.36740	N	0.002421	T	0.08133	0.0203	M	0.65975	2.015	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.46331	-0.9199	10	0.02654	T	1	-4.4213	1.9494	0.03364	0.3673:0.1562:0.3653:0.1112	.	70;97	F5GWS3;Q6P9B6	.;K1609_HUMAN	Y	97;70	ENSP00000343635:H97Y;ENSP00000441997:H70Y	ENSP00000343635:H97Y	H	-	1	0	KIAA1609	83086885	0.919000	0.31177	0.095000	0.20976	0.443000	0.32047	0.253000	0.18296	-0.161000	0.10983	-0.251000	0.11542	CAC		PASS	0.527	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		46	107	46	107	---	---	---	---
DBNDD1	79007	broad.mit.edu	37	16	90075214	90075214	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr16:90075214G>C	ENST00000002501.6	-	3	428	c.297C>G	c.(295-297)aaC>aaG	p.N99K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.N119K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.N219K|DBNDD1_ENST00000392973.3_Missense_Mutation_p.N105K	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	99						cytoplasm (GO:0005737)		p.N99K(1)		kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGTGTTGAGGTTCTCGTCGT	0.647																																						uc002fqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)AAC>AAG		dysbindin (dystrobrevin binding protein 1)							39.0	43.0	42.0					16																	90075214		2037	4196	6233	SO:0001583	missense	79007					cytoplasm		g.chr16:90075214G>C	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.297C>G	16.37:g.90075214G>C	ENSP00000002501:p.Asn99Lys					DBNDD1_uc002fqe.1_Missense_Mutation_p.N119K|DBNDD1_uc002fqg.1_RNA	p.N99K	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	485	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	99					B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	c.297C>G	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267307	0.23136	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.30182	1.54;1.54	4.69	-1.67	0.08238	.	0.169118	0.50627	D	0.000102	T	0.28001	0.0690	M	0.67953	2.075	0.29018	N	0.886459	P;P	0.39480	0.549;0.675	B;B	0.38378	0.272;0.202	T	0.27123	-1.0083	9	.	.	.	-40.9496	11.1751	0.48595	0.3715:0.0:0.6285:0.0	.	99;119	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	K	119;99;219	ENSP00000306407:N119K;ENSP00000002501:N99K	.	N	-	3	2	DBNDD1	88602715	1.000000	0.71417	0.007000	0.13788	0.043000	0.13939	1.825000	0.39081	-0.154000	0.11118	0.313000	0.20887	AAC		PASS	0.647	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		13	19	13	19	---	---	---	---
ABR	29	broad.mit.edu	37	17	910480	910480	+	Silent	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:910480C>A	ENST00000302538.5	-	22	2561	c.2415G>T	c.(2413-2415)ctG>ctT	p.L805L	ABR_ENST00000574437.1_Silent_p.L759L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L256L|ABR_ENST00000536794.2_Silent_p.L587L|ABR_ENST00000544583.2_Silent_p.L759L|ABR_ENST00000291107.2_Silent_p.L768L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	805	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L805L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGGGTCTCAGTAACGTGG	0.577																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2413-2415)CTG>CTT		active breakpoint cluster region-related							212.0	176.0	188.0					17																	910480		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:910480C>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2415G>T	17.37:g.910480C>A						ABR_uc002fse.2_Silent_p.L759L|ABR_uc010vqf.1_Silent_p.L256L|ABR_uc010vqg.1_Silent_p.L587L|ABR_uc002fsg.2_Silent_p.L768L|ABR_uc002fsf.2_Silent_p.L342L	p.L805L	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	22	2525	-			805			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2415G>T	CCDS10999.1																																																																																				PASS	0.577	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			4	69	4	69	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656496	12656496	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:12656496C>A	ENST00000343344.4	+	10	1891	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	AC005358.1_ENST00000609971.1_Missense_Mutation_p.P535T|MYOCD_ENST00000425538.1_Missense_Mutation_p.P631T|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	631					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P631T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTTCTCAGCCCCCAGTGTTC	0.537																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1891-1893)CCC>ACC		myocardin isoform 2							126.0	131.0	129.0					17																	12656496		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656496C>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1891C>A	17.37:g.12656496C>A	ENSP00000341835:p.Pro631Thr					MYOCD_uc002gno.2_Missense_Mutation_p.P631T|MYOCD_uc002gnp.1_Missense_Mutation_p.P535T|MYOCD_uc002gnq.2_Missense_Mutation_p.P350T	p.P631T	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2190	+			631					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1891C>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338509	0.81911	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.59772	0.82;0.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.76727	-0.2853	10	0.56958	D	0.05	-28.6485	18.6089	0.91276	0.0:1.0:0.0:0.0	.	350;535;631;631	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	350;631;631;535;336	ENSP00000341835:P631T;ENSP00000400148:P336T	ENSP00000341835:P631T	P	+	1	0	MYOCD	12597221	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.211000	0.77933	2.699000	0.92147	0.650000	0.86243	CCC		PASS	0.537	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		45	159	45	159	---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17158245	17158245	+	Silent	SNP	T	T	C	rs141030201		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:17158245T>C	ENST00000268717.5	-	9	1057	c.951A>G	c.(949-951)ctA>ctG	p.L317L	COPS3_ENST00000439936.2_Silent_p.L239L|COPS3_ENST00000539941.2_Silent_p.L297L	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	317	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.L317L(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CTTGTAATGATAGAGTTAAAA	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		21196	0.001		0.0	False		,,,				2504	0.0					uc002grd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(949-951)CTA>CTG		COP9 constitutive photomorphogenic homolog							86.0	82.0	83.0					17																	17158245		2203	4300	6503	SO:0001819	synonymous_variant	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17158245T>C	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.951A>G	17.37:g.17158245T>C						COPS3_uc010vwv.1_Silent_p.L297L|COPS3_uc010vww.1_Silent_p.L187L	p.L317L	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			9	1042	-			317			PCI.		B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	c.951A>G	CCDS11183.1																																																																																				PASS	0.418	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			22	60	22	60	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28296243	28296243	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:28296243G>C	ENST00000394835.3	+	4	817	c.625G>C	c.(625-627)Gac>Cac	p.D209H	EFCAB5_ENST00000394832.2_Missense_Mutation_p.D209H|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.D153H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D209H|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D209H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	209							calcium ion binding (GO:0005509)	p.D209H(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGCAAGTTTGACCCAATTAA	0.363																																						uc002het.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(625-627)GAC>CAC		EF-hand calcium binding domain 5 isoform a							43.0	45.0	45.0					17																	28296243		1817	4073	5890	SO:0001583	missense	374786						calcium ion binding	g.chr17:28296243G>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.625G>C	17.37:g.28296243G>C	ENSP00000378312:p.Asp209His					EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.D153H|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.D88H|EFCAB5_uc010csf.2_Missense_Mutation_p.D88H	p.D209H	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			4	817	+			209					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.625G>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202244	0.58234	.	.	ENSG00000176927	ENST00000536908;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T	0.35236	1.36;2.39;2.35;1.65;1.32;2.34	5.59	3.59	0.41128	.	.	.	.	.	T	0.50701	0.1631	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.986;0.975;0.923;0.943	T	0.52124	-0.8617	9	0.72032	D	0.01	-17.4819	10.5567	0.45121	0.2113:0.0:0.7887:0.0	.	153;209;209;209	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	H	153;209;209;209;209;153;15	ENSP00000440619:D153H;ENSP00000378312:D209H;ENSP00000322003:D209H;ENSP00000378309:D209H;ENSP00000368012:D209H;ENSP00000417009:D15H	ENSP00000322003:D209H	D	+	1	0	EFCAB5	25320369	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.909000	0.48758	1.499000	0.48617	0.561000	0.74099	GAC		PASS	0.363	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		38	52	38	52	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690031	33690031	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:33690031C>T	ENST00000394566.1	-	4	1068	c.796G>A	c.(796-798)Gac>Aac	p.D266N	SLFN11_ENST00000308377.4_Missense_Mutation_p.D266N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	266					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.D266N(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTCAGGGTCAACATTTTCT	0.418																																						uc010ctp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(796-798)GAC>AAC		schlafen family member 11							179.0	179.0	179.0					17																	33690031		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690031C>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.796G>A	17.37:g.33690031C>T	ENSP00000378067:p.Asp266Asn					SLFN11_uc010ctq.2_Missense_Mutation_p.D266N|SLFN11_uc002hjh.3_Missense_Mutation_p.D266N|SLFN11_uc002hjg.3_Missense_Mutation_p.D266N|SLFN11_uc010ctr.2_Missense_Mutation_p.D266N	p.D266N	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1238	-		Ovarian(249;0.17)	266					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.796G>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	3.929	-0.016458	0.07681	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.56611	0.45;0.45	4.19	-3.35	0.04928	.	0.768668	0.11035	N	0.606802	T	0.26810	0.0656	N	0.16066	0.365	0.09310	N	1	B	0.22800	0.075	B	0.27608	0.081	T	0.31024	-0.9958	10	0.11485	T	0.65	.	5.3817	0.16196	0.0:0.271:0.1637:0.5653	.	266	Q7Z7L1	SLN11_HUMAN	N	266	ENSP00000312402:D266N;ENSP00000378067:D266N	ENSP00000312402:D266N	D	-	1	0	SLFN11	30714144	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.422000	0.02453	-0.199000	0.10317	0.555000	0.69702	GAC		PASS	0.418	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		79	104	79	104	---	---	---	---
KRTAP4-2	85291	broad.mit.edu	37	17	39334259	39334259	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:39334259G>C	ENST00000377726.2	-	1	201	c.158C>G	c.(157-159)tCt>tGt	p.S53C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	53	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.S170C(1)|p.S53C(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCACACAGACTGGCAGCA	0.672																																						uc002hwd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(157-159)TCT>TGT		keratin associated protein 4-2							37.0	43.0	41.0					17																	39334259		2201	4292	6493	SO:0001583	missense	85291					keratin filament		g.chr17:39334259G>C	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.158C>G	17.37:g.39334259G>C	ENSP00000366955:p.Ser53Cys						p.S53C	NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	202	-		Breast(137;0.000496)	53			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|8.		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.158C>G	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	14.25	2.477999	0.44044	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01871	4.59	4.46	3.48	0.39840	.	1.296930	0.05844	U	0.619880	T	0.12475	0.0303	M	0.78049	2.395	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.12863	-1.0531	10	0.87932	D	0	.	7.1786	0.25760	0.208:0.0:0.792:0.0	.	53	Q9BYR5	KRA42_HUMAN	C	53;170	ENSP00000366955:S53C	ENSP00000366955:S53C	S	-	2	0	KRTAP4-2	36587785	0.031000	0.19500	0.001000	0.08648	0.004000	0.04260	1.746000	0.38288	0.987000	0.38709	0.514000	0.50259	TCT		PASS	0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			3	117	3	117	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40937356	40937356	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:40937356G>T	ENST00000246914.5	+	6	1353	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	444					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.E444D(1)|p.E433*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AACTAGCGGAGGAGGACGACG	0.697																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)|skin(3)|stomach(1)	7						c.(1330-1332)GAG>GAT		WNK lysine deficient protein kinase 4							18.0	20.0	20.0					17																	40937356		2201	4299	6500	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40937356G>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1332G>T	17.37:g.40937356G>T	ENSP00000246914:p.Glu444Asp					WNK4_uc010wgx.1_Missense_Mutation_p.E108D|WNK4_uc002ibk.1_Missense_Mutation_p.E216D|WNK4_uc010wgy.1_Translation_Start_Site	p.E444D	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	6	1353	+		Breast(137;0.000143)	444					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1332G>T	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984414	0.53934	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73258	-0.73	5.28	2.17	0.27698	.	0.000000	0.47455	D	0.000227	T	0.65995	0.2745	L	0.52126	1.63	0.33240	D	0.557151	P;B;B	0.40638	0.725;0.369;0.369	B;B;B	0.43950	0.437;0.253;0.253	T	0.73610	-0.3928	10	0.72032	D	0.01	-17.3025	8.7911	0.34852	0.2998:0.0:0.7002:0.0	.	444;444;444	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	D	444;216	ENSP00000246914:E444D	ENSP00000246914:E444D	E	+	3	2	WNK4	38190882	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	4.814000	0.62627	0.615000	0.30124	-0.266000	0.10368	GAG		PASS	0.697	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			6	13	6	13	---	---	---	---
ASB16	92591	broad.mit.edu	37	17	42248258	42248258	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:42248258A>T	ENST00000293414.1	+	1	185	c.101A>T	c.(100-102)cAg>cTg	p.Q34L		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	34					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.Q34L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGGCTGCCCAGCAGTGCCGG	0.682																																						uc002ifl.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(100-102)CAG>CTG		ankyrin repeat and SOCS box-containing protein							16.0	16.0	16.0					17																	42248258		2201	4295	6496	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248258A>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.101A>T	17.37:g.42248258A>T	ENSP00000293414:p.Gln34Leu					ASB16_uc002ifm.1_RNA	p.Q34L	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	185	+		Breast(137;0.00765)|Prostate(33;0.0313)	34					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.101A>T	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	A	4.201	0.036013	0.08148	.	.	ENSG00000161664	ENST00000293414	T	0.61980	0.06	5.26	-3.94	0.04130	.	0.515513	0.23356	N	0.049075	T	0.28995	0.0720	N	0.08118	0	0.25328	N	0.989052	B	0.02656	0.0	B	0.04013	0.001	T	0.32824	-0.9892	10	0.07990	T	0.79	-3.5758	7.5292	0.27672	0.2179:0.0:0.5279:0.2542	.	34	Q96NS5	ASB16_HUMAN	L	34	ENSP00000293414:Q34L	ENSP00000293414:Q34L	Q	+	2	0	ASB16	39603784	0.964000	0.33143	0.024000	0.17045	0.037000	0.13140	0.694000	0.25512	-0.703000	0.05049	-0.441000	0.05720	CAG		PASS	0.682	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			8	24	8	24	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43893891	43893891	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:43893891C>A	ENST00000398285.3	+	3	184	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	CRHR1_ENST00000577353.1_Missense_Mutation_p.Q62K|CRHR1_ENST00000314537.5_Missense_Mutation_p.Q62K|CRHR1_ENST00000352855.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_5'UTR	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	62					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.Q62K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCTGCGGGGCAGCTAGTGGT	0.602																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(184-186)CAG>AAG		corticotropin releasing hormone receptor 1							40.0	44.0	42.0					17																	43893891		1932	4111	6043	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43893891C>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.184C>A	17.37:g.43893891C>A	ENSP00000381333:p.Gln62Lys					CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_5'UTR|CRHR1_uc002ijm.2_Missense_Mutation_p.Q62K|CRHR1_uc002ijn.2_Intron|CRHR1_uc010dar.2_Missense_Mutation_p.Q62K|CRHR1_uc010dao.2_5'UTR|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_Intron	p.Q62K	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	449	+	Colorectal(2;0.0416)		62			Extracellular (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.184C>A	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731860	0.48939	.	.	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197	T;T;T	0.62941	-0.01;-0.01;-0.01	5.04	5.04	0.67666	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.120686	0.56097	D	0.000022	T	0.44180	0.1281	N	0.16602	0.42	0.80722	D	1	B;B;B	0.13145	0.002;0.007;0.001	B;B;B	0.19666	0.008;0.026;0.008	T	0.32161	-0.9917	10	0.11485	T	0.65	.	13.7707	0.63023	0.0:1.0:0.0:0.0	.	62;62;62	P34998-4;P34998;P34998-2	.;CRFR1_HUMAN;.	K	62	ENSP00000381333:Q62K;ENSP00000326060:Q62K;ENSP00000239167:Q62K	ENSP00000326060:Q62K	Q	+	1	0	CRHR1	41249672	0.990000	0.36364	1.000000	0.80357	0.955000	0.61496	2.296000	0.43584	2.630000	0.89119	0.655000	0.94253	CAG		PASS	0.602	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			32	15	32	15	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60768056	60768056	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:60768056G>A	ENST00000303375.5	+	27	4348	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K	MRC2_ENST00000446119.2_Missense_Mutation_p.E182K	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1316	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.E1316K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTTTGTCTGGGAGCACCTGCA	0.627																																						uc002jad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3946-3948)GAG>AAG		mannose receptor, C type 2							79.0	79.0	79.0					17																	60768056		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60768056G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3946G>A	17.37:g.60768056G>A	ENSP00000307513:p.Glu1316Lys					MRC2_uc002jae.2_Missense_Mutation_p.E387K|MRC2_uc002jaf.2_Missense_Mutation_p.E182K	p.E1316K	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			27	4348	+			1316			Extracellular (Potential).|C-type lectin 8.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.3946G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011166	0.93346	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.07444	3.19;3.19	4.14	4.14	0.48551	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.08764	-1.0706	10	0.27785	T	0.31	-27.7498	16.6113	0.84883	0.0:0.0:1.0:0.0	.	182;1316	E7EME3;Q9UBG0	.;MRC2_HUMAN	K	1316;182	ENSP00000307513:E1316K;ENSP00000400445:E182K	ENSP00000307513:E1316K	E	+	1	0	MRC2	58121788	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.446000	0.80609	2.134000	0.65973	0.561000	0.74099	GAG		PASS	0.627	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			27	76	27	76	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61554676	61554676	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:61554676A>C	ENST00000290866.4	+	1	245	c.221A>C	c.(220-222)aAc>aCc	p.N74T	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.N74T|ACE_ENST00000538928.1_Missense_Mutation_p.N74T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	74	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.N74T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACGACACCAACATCACCGCG	0.741																																						uc002jau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(220-222)AAC>ACC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						4.0	4.0	4.0					17																	61554676		2009	3986	5995	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61554676A>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.221A>C	17.37:g.61554676A>C	ENSP00000290866:p.Asn74Thr					ACE_uc010wph.1_Missense_Mutation_p.N74T|ACE_uc010wpi.1_Missense_Mutation_p.N74T|ACE_uc010ddu.1_5'UTR	p.N74T	NM_000789	NP_000780	P12821	ACE_HUMAN			1	243	+			74			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.221A>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345219	0.41498	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.42513	0.97;0.97;0.97	4.45	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	H	0.95294	3.65	0.80722	D	1	P;D;D	0.89917	0.844;1.0;0.996	B;D;D	0.70487	0.37;0.965;0.969	T	0.67110	-0.5753	10	0.66056	D	0.02	-25.0125	6.2295	0.20726	0.7794:0.0:0.0785:0.1421	.	74;74;74	F5H1K1;B4DU66;P12821	.;.;ACE_HUMAN	T	74	ENSP00000439591:N74T;ENSP00000290866:N74T;ENSP00000397593:N74T	ENSP00000290866:N74T	N	+	2	0	ACE	58908408	1.000000	0.71417	0.999000	0.59377	0.057000	0.15508	7.723000	0.84788	0.240000	0.21263	-0.407000	0.06327	AAC		PASS	0.741	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	6	5	6	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61895543	61895543	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:61895543G>A	ENST00000578681.1	+	19	3203	c.2602G>A	c.(2602-2604)Gca>Aca	p.A868T	DDX42_ENST00000583590.1_Missense_Mutation_p.A868T|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.A749T|DDX42_ENST00000457800.2_Missense_Mutation_p.A868T|DDX42_ENST00000389924.2_Missense_Mutation_p.A868T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	868	Gly-rich.|His-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A868T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGGAGGAAGCGCAGGCCGGCA	0.567																																						uc002jbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)	5						c.(2602-2604)GCA>ACA		DEAD box polypeptide 42 protein							93.0	92.0	92.0					17																	61895543		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61895543G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2602G>A	17.37:g.61895543G>A	ENSP00000464050:p.Ala868Thr					DDX42_uc002jbv.2_Missense_Mutation_p.A868T|DDX42_uc002jbx.2_Missense_Mutation_p.A604T|DDX42_uc002jby.2_Missense_Mutation_p.A414T|DDX42_uc010wps.1_Missense_Mutation_p.A236T	p.A868T	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			19	2859	+			868			Gly-rich.|His-rich.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2602G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197603	0.09652	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.19105	2.17;2.17	5.06	2.04	0.26737	.	1.179430	0.05770	N	0.606619	T	0.13072	0.0317	N	0.22421	0.69	0.21604	N	0.999623	B;B	0.20261	0.001;0.043	B;B	0.10450	0.0;0.005	T	0.34453	-0.9828	10	0.20046	T	0.44	-4.7224	3.9554	0.09387	0.2623:0.0:0.5732:0.1645	.	414;868	B3KV84;Q86XP3	.;DDX42_HUMAN	T	868;868;585	ENSP00000374574:A868T;ENSP00000390121:A868T	ENSP00000352308:A585T	A	+	1	0	DDX42	59249275	0.009000	0.17119	0.829000	0.32907	0.330000	0.28571	0.025000	0.13577	0.326000	0.23384	-0.444000	0.05651	GCA		PASS	0.567	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		34	132	34	132	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74625591	74625591	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:74625591G>T	ENST00000156626.7	-	2	533	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	112					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.Q112K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ACCTTGTCCTGCTCCTCCGGC	0.592																																						uc002jsh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)CAG>AAG		sialyltransferase 7A							139.0	126.0	130.0					17																	74625591		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625591G>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.334C>A	17.37:g.74625591G>T	ENSP00000156626:p.Gln112Lys					ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	p.Q112K	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			2	508	-			112			Lumenal (Potential).		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.334C>A	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	0.600	-0.829363	0.02734	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.24908	1.88;1.83	3.23	-2.11	0.07187	.	2.690360	0.01366	N	0.012405	T	0.14056	0.0340	N	0.22421	0.69	0.09310	N	1	B	0.22003	0.063	B	0.17098	0.017	T	0.09335	-1.0679	10	0.18276	T	0.48	0.1646	1.0958	0.01673	0.2125:0.1404:0.4017:0.2453	.	112	Q9NSC7	SIA7A_HUMAN	K	112	ENSP00000156626:Q112K;ENSP00000351991:Q112K	ENSP00000156626:Q112K	Q	-	1	0	ST6GALNAC1	72137186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.543000	0.23237	-0.136000	0.11475	-0.339000	0.08088	CAG		PASS	0.592	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		82	55	82	55	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76989736	76989736	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:76989736C>T	ENST00000302345.2	-	4	1596	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	CANT1_ENST00000591773.1_Missense_Mutation_p.G368S|CANT1_ENST00000392446.5_Missense_Mutation_p.G368S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	368					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)	p.G368S(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGACTCTGCCGCTGTCCTCC	0.592			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jwn.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate		1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GGC>AGC		calcium activated nucleotidase 1							107.0	87.0	93.0					17																	76989736		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989736C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.1102G>A	17.37:g.76989736C>T	ENSP00000307674:p.Gly368Ser		OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	CANT1_uc002jwk.2_Missense_Mutation_p.G368S|CANT1_uc002jwj.2_Missense_Mutation_p.G368S|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	p.G368S	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1541	-			368			Lumenal (Potential).		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.1102G>A	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548296	0.86127	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.89270	-2.49;-2.49	5.12	5.12	0.69794	.	0.050600	0.85682	D	0.000000	D	0.94781	0.8315	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	D	0.95223	0.8335	10	0.56958	D	0.05	-30.5543	17.3407	0.87294	0.0:1.0:0.0:0.0	.	368	Q8WVQ1	CANT1_HUMAN	S	368;368;317	ENSP00000307674:G368S;ENSP00000376241:G368S	ENSP00000307674:G368S	G	-	1	0	CANT1	74501331	1.000000	0.71417	0.294000	0.24946	0.327000	0.28475	7.373000	0.79623	2.388000	0.81334	0.555000	0.69702	GGC		PASS	0.592	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		24	74	24	74	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77708963	77708963	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:77708963C>T	ENST00000328313.5	+	3	742	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.A174V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGTGGAGAGCGAACATCGAC	0.602																																						uc002jxa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(520-522)GCG>GTG		ectonucleotide pyrophosphatase/phosphodiesterase							89.0	69.0	76.0					17																	77708963		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708963C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.521C>T	17.37:g.77708963C>T	ENSP00000332656:p.Ala174Val						p.A174V	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	541	+			174						Missense_Mutation	SNP	ENST00000328313.5	37	c.521C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227329	0.22542	.	.	ENSG00000182156	ENST00000328313	T	0.75704	-0.96	4.7	-0.455	0.12193	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.481172	0.19951	N	0.102427	T	0.55641	0.1933	L	0.42245	1.32	0.20307	N	0.999919	B	0.34103	0.437	B	0.28916	0.096	T	0.45512	-0.9256	10	0.42905	T	0.14	-26.5381	2.6511	0.05000	0.3341:0.2569:0.3174:0.0916	.	174	Q6UWV6	ENPP7_HUMAN	V	174	ENSP00000332656:A174V	ENSP00000332656:A174V	A	+	2	0	ENPP7	75323558	0.000000	0.05858	0.694000	0.30210	0.184000	0.23303	0.576000	0.23744	0.392000	0.25172	0.591000	0.81541	GCG		PASS	0.602	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		16	61	16	61	---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580495	580495	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr18:580495G>C	ENST00000327228.3	+	1	129	c.87G>C	c.(85-87)caG>caC	p.Q29H		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	29	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.Q29H(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTGAGGATCAGAAGCAAGAAG	0.602																																						uc002kko.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(85-87)CAG>CAC		centrin 1							56.0	43.0	47.0					18																	580495		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580495G>C	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.87G>C	18.37:g.580495G>C	ENSP00000319052:p.Gln29His						p.Q29H	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	129	+			29			EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.87G>C	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504883	0.44558	.	.	ENSG00000177143	ENST00000327228	T	0.39997	1.05	5.2	1.32	0.21799	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.60470	0.2271	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.59963	-0.7355	10	0.87932	D	0	.	5.6147	0.17423	0.2616:0.1488:0.5896:0.0	.	29	Q12798	CETN1_HUMAN	H	29	ENSP00000319052:Q29H	ENSP00000319052:Q29H	Q	+	3	2	CETN1	570495	0.984000	0.35163	0.997000	0.53966	0.179000	0.23085	0.113000	0.15499	0.412000	0.25729	0.655000	0.94253	CAG		PASS	0.602	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		19	17	19	17	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879841	3879841	+	Silent	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr18:3879841G>T	ENST00000315677.3	-	4	823	c.228C>A	c.(226-228)acC>acA	p.T76T	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.T76T|DLGAP1_ENST00000515196.2_Silent_p.T76T|DLGAP1_ENST00000581527.1_Silent_p.T76T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	76					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.T76T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTTGCTGCGAGGTGTAGTGCC	0.672																																						uc002kmf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(226-228)ACC>ACA		discs large homolog-associated protein 1 isoform							51.0	52.0	51.0					18																	3879841		2203	4299	6502	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879841G>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.228C>A	18.37:g.3879841G>T						DLGAP1_uc010wyz.1_Silent_p.T76T|DLGAP1_uc002kmk.2_Silent_p.T76T|uc002kml.1_Intron	p.T76T	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	295	-		Colorectal(8;0.0257)	76					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.228C>A	CCDS11836.1																																																																																				PASS	0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			60	50	60	50	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753467	76753467	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr18:76753467C>T	ENST00000537592.2	+	2	1476	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	SALL3_ENST00000575389.2_Silent_p.P492P|SALL3_ENST00000536229.3_Silent_p.P359P	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	492					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P492P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACAACGTGCCCACCTGCTCGG	0.647																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1474-1476)CCC>CCT		sal-like 3							50.0	43.0	45.0					18																	76753467		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753467C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1476C>T	18.37:g.76753467C>T						SALL3_uc010dra.2_Silent_p.P99P	p.P492P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1476	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	492					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1476C>T	CCDS12013.1																																																																																				PASS	0.647	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		9	23	9	23	---	---	---	---
DAPK3	1613	broad.mit.edu	37	19	3959564	3959564	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:3959564C>T	ENST00000545797.2	-	9	1143	c.900G>A	c.(898-900)acG>acA	p.T300T	DAPK3_ENST00000301264.3_Silent_p.T300T|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	300					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.T300T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCAGACGCGTGGTCTTCA	0.672																																						uc002lzc.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(898-900)ACG>ACA		death-associated protein kinase 3							22.0	16.0	18.0					19																	3959564		2016	3963	5979	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3959564C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.900G>A	19.37:g.3959564C>T						DAPK3_uc002lzb.1_Silent_p.T37T|DAPK3_uc002lzd.1_Silent_p.T300T	p.T300T	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	993	-		Hepatocellular(1079;0.137)	300					A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.900G>A	CCDS12116.1																																																																																				PASS	0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		15	7	15	7	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125332	7125332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:7125332C>A	ENST00000302850.5	-	17	3362	c.3220G>T	c.(3220-3222)Gag>Tag	p.E1074*	INSR_ENST00000341500.5_Nonsense_Mutation_p.E1062*	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1074	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.E1074*(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACCGAGGCCTCATTGAGGAAC	0.597																																						uc002mgd.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3220-3222)GAG>TAG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						136.0	100.0	112.0					19																	7125332		2203	4300	6503	SO:0001587	stop_gained	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125332C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3220G>T	19.37:g.7125332C>A	ENSP00000303830:p.Glu1074*					INSR_uc002mge.1_Nonsense_Mutation_p.E1062*	p.E1074*	NM_000208	NP_000199	P06213	INSR_HUMAN			17	3329	-			1074			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Nonsense_Mutation	SNP	ENST00000302850.5	37	c.3220G>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	42	9.534816	0.99198	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	.	.	.	5.06	5.06	0.68205	.	0.000000	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9578	0.79898	0.0:1.0:0.0:0.0	.	.	.	.	X	1074;1062	.	ENSP00000303830:E1074X	E	-	1	0	INSR	7076332	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	7.320000	0.79064	2.638000	0.89438	0.655000	0.94253	GAG		PASS	0.597	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			34	46	34	46	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8174625	8174625	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:8174625C>G	ENST00000600128.1	-	35	4760	c.4346G>C	c.(4345-4347)tGt>tCt	p.C1449S	FBN3_ENST00000601739.1_Missense_Mutation_p.C1449S|FBN3_ENST00000270509.2_Missense_Mutation_p.C1449S			Q75N90	FBN3_HUMAN	fibrillin 3	1449	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1449S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGGTCTGCACACTCGTTGAT	0.617																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4345-4347)TGT>TCT		fibrillin 3 precursor							128.0	120.0	123.0					19																	8174625		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174625C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4346G>C	19.37:g.8174625C>G	ENSP00000470498:p.Cys1449Ser						p.C1449S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			34	4367	-			1449			EGF-like 23; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4346G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634744	0.47049	.	.	ENSG00000142449	ENST00000270509	D	0.99429	-5.89	3.59	3.59	0.41128	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99799	0.9914	H	0.99789	4.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96359	0.9264	10	0.87932	D	0	.	15.5674	0.76303	0.0:1.0:0.0:0.0	.	1449	Q75N90	FBN3_HUMAN	S	1449	ENSP00000270509:C1449S	ENSP00000270509:C1449S	C	-	2	0	FBN3	8080625	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	7.212000	0.77941	1.720000	0.51447	0.484000	0.47621	TGT		PASS	0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		79	91	79	91	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8657685	8657685	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:8657685C>T	ENST00000597188.1	-	13	1819	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E517K|ADAMTS10_ENST00000595838.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	517	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E517K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCGTGCCCTCGGCGGCCGGG	0.711																																						uc002mkj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(2)	4						c.(1549-1551)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							37.0	33.0	34.0					19																	8657685		2201	4297	6498	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8657685C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1549G>A	19.37:g.8657685C>T	ENSP00000471851:p.Glu517Lys					ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E149K	p.E517K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			13	1823	-			517			Disintegrin.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1549G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965947	0.97151	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.68025	-0.3	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.73380	0.477;0.98	D	0.85961	0.1470	10	0.87932	D	0	.	17.8637	0.88790	0.0:1.0:0.0:0.0	.	271;517	Q59FE5;Q9H324	.;ATS10_HUMAN	K	517;271	ENSP00000270328:E517K	ENSP00000270328:E517K	E	-	1	0	ADAMTS10	8563685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.449000	0.82847	0.655000	0.94253	GAG		PASS	0.711	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		23	45	23	45	---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204359	9204359	+	Missense_Mutation	SNP	G	G	A	rs372082145		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:9204359G>A	ENST00000429566.3	+	1	505	c.439G>A	c.(439-441)Gcc>Acc	p.A147T		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A147T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTGGTCGGCGCCCTCTGGGC	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		19669	0.001		0.0	False		,,,				2504	0.0					uc010xkj.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(439-441)GCC>ACC		olfactory receptor, family 1, subfamily M,			THR/ALA	0,4406		0,0,2203	111.0	91.0	98.0		439	-6.6	0.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1M1	NM_001004456.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	147/314	9204359	1,13005	2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204359G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.439G>A	19.37:g.9204359G>A	ENSP00000401966:p.Ala147Thr						p.A147T	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	439	+			147			Helical; Name=4; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.439G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	10.85	1.468122	0.26335	0.0	1.16E-4	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.39229	1.09	3.9	-6.57	0.01842	GPCR, rhodopsin-like superfamily (1);	1.106060	0.06892	N	0.804423	T	0.17789	0.0427	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19289	-1.0310	10	0.52906	T	0.07	.	0.8914	0.01255	0.2228:0.2163:0.341:0.2199	.	147	Q8NGA1	OR1M1_HUMAN	T	150;147	ENSP00000401966:A147T	ENSP00000303195:A150T	A	+	1	0	OR1M1	9065359	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.384000	0.01063	-0.838000	0.04218	-0.148000	0.13756	GCC		PASS	0.577	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			35	106	35	106	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10791697	10791697	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:10791697C>T	ENST00000590261.1	+	9	960	c.960C>T	c.(958-960)caC>caT	p.H320H	ILF3_ENST00000420083.1_Silent_p.H320H|ILF3_ENST00000588657.1_Silent_p.H320H|ILF3_ENST00000407004.3_Silent_p.H320H|ILF3_ENST00000250241.8_Silent_p.H320H|ILF3_ENST00000589998.1_Silent_p.H320H|ILF3_ENST00000318511.3_Silent_p.H320H|ILF3_ENST00000592763.1_Silent_p.H320H|ILF3_ENST00000449870.1_Silent_p.H320H			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	320	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.H320H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTCTCCAGCACGCACTGCGGC	0.592																																						uc002mpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(958-960)CAC>CAT		interleukin enhancer binding factor 3 isoform a							74.0	74.0	74.0					19																	10791697		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10791697C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.960C>T	19.37:g.10791697C>T						ILF3_uc002mpm.2_Silent_p.H320H|ILF3_uc002mpl.2_Silent_p.H320H|ILF3_uc002mpk.2_Silent_p.H320H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.H320H|ILF3_uc002mpp.2_Silent_p.H141H	p.H320H	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		10	1277	+			320			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.960C>T	CCDS12246.1																																																																																				PASS	0.592	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			16	61	16	61	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363521	22363521	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:22363521C>A	ENST00000397121.2	-	3	1315	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G333V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTTCTCTCCAGCATGAAT	0.403																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)GGA>GTA		zinc finger protein 676							67.0	72.0	70.0					19																	22363521		2164	4273	6437	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363521C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.998G>T	19.37:g.22363521C>A	ENSP00000380310:p.Gly333Val						p.G333V	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1316	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	333					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.998G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.86	2.364561	0.41902	.	.	ENSG00000196109	ENST00000397121	T	0.23552	1.9	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39600	0.1084	L	0.49571	1.57	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.14008	-1.0488	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	333	Q8N7Q3	ZN676_HUMAN	V	333	ENSP00000380310:G333V	ENSP00000380310:G333V	G	-	2	0	ZNF676	22155361	0.183000	0.23186	0.012000	0.15200	0.012000	0.07955	1.414000	0.34736	0.192000	0.20272	0.195000	0.17529	GGA		PASS	0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	102	8	102	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22847660	22847660	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:22847660G>C	ENST00000456783.2	+	4	1433	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E397Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAATGTGAAGAATGTGGCAA	0.378																																						uc002nqw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)GAA>CAA		zinc finger protein 492							43.0	46.0	45.0					19																	22847660		2131	4253	6384	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847660G>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1189G>C	19.37:g.22847660G>C	ENSP00000413660:p.Glu397Gln						p.E397Q	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1433	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	397			C2H2-type 10.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1189G>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.531	1.110744	0.20714	.	.	ENSG00000229676	ENST00000456783	T	0.07444	3.19	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	N	0.02876	-0.465	0.09310	N	1	D	0.60575	0.988	P	0.58577	0.841	T	0.40346	-0.9568	9	0.52906	T	0.07	.	6.4246	0.21762	0.0:0.306:0.694:0.0	.	397	Q9P255	ZN492_HUMAN	Q	397	ENSP00000413660:E397Q	ENSP00000413660:E397Q	E	+	1	0	ZNF492	22639500	0.000000	0.05858	0.131000	0.22000	0.132000	0.20833	-0.135000	0.10420	0.269000	0.21961	0.274000	0.19336	GAA		PASS	0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		16	60	16	60	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22847933	22847933	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:22847933A>T	ENST00000456783.2	+	4	1706	c.1462A>T	c.(1462-1464)Aac>Tac	p.N488Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N488Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGCCTTTAACAACTCCTCTAT	0.378																																						uc002nqw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)AAC>TAC		zinc finger protein 492							19.0	28.0	25.0					19																	22847933		1948	4195	6143	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847933A>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1462A>T	19.37:g.22847933A>T	ENSP00000413660:p.Asn488Tyr						p.N488Y	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1706	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	488			C2H2-type 13.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1462A>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	4.633	0.117678	0.08881	.	.	ENSG00000229676	ENST00000456783	T	0.19532	2.14	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17916	0.0430	N	0.13272	0.32	0.09310	N	1	D	0.55385	0.971	P	0.59643	0.861	T	0.13176	-1.0519	9	0.23302	T	0.38	.	2.9315	0.05801	0.6824:0.0:0.3176:0.0	.	488	Q9P255	ZN492_HUMAN	Y	488	ENSP00000413660:N488Y	ENSP00000413660:N488Y	N	+	1	0	ZNF492	22639773	0.000000	0.05858	0.647000	0.29507	0.661000	0.39034	-0.635000	0.05471	0.129000	0.18514	0.128000	0.15822	AAC		PASS	0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		20	15	20	15	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940298	22940298	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:22940298T>C	ENST00000596209.1	-	4	2503	c.2413A>G	c.(2413-2415)Aga>Gga	p.R805G	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.R714G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R714G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCATGTTTTCTAAGGGTTGAG	0.338																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2140-2142)AGA>GGA		zinc finger protein 99							30.0	32.0	32.0					19																	22940298		2032	4201	6233	SO:0001583	missense	7652							g.chr19:22940298T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2413A>G	19.37:g.22940298T>C	ENSP00000472969:p.Arg805Gly						p.R714G	NM_001080409	NP_001073878					5	2140	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2140A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	0.020	-1.443886	0.01089	.	.	ENSG00000213973	ENST00000397104	T	0.01015	5.44	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	L	0.35593	1.075	0.09310	N	1	B	0.19583	0.037	B	0.21917	0.037	T	0.45026	-0.9289	9	0.22109	T	0.4	.	5.2412	0.15473	0.0:0.1693:0.5675:0.2632	.	714	A8MXY4	ZNF99_HUMAN	G	714	ENSP00000380293:R714G	ENSP00000380293:R714G	R	-	1	2	ZNF99	22732138	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.415000	0.02469	-2.325000	0.00638	-1.978000	0.00458	AGA		PASS	0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	41	14	41	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30500174	30500174	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:30500174G>A	ENST00000542441.2	+	8	1246	c.949G>A	c.(949-951)Gat>Aat	p.D317N	URI1_ENST00000392271.1_Missense_Mutation_p.D241N|URI1_ENST00000360605.4_Missense_Mutation_p.D299N|URI1_ENST00000312051.6_Missense_Mutation_p.D277N			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	317	Poly-Asp.				cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.D317N(1)									tgacgacgatgatggtgataa	0.398																																						uc002nsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(949-951)GAT>AAT		RPB5-mediating protein isoform a							102.0	86.0	91.0					19																	30500174		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500174G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.949G>A	19.37:g.30500174G>A	ENSP00000442436:p.Asp317Asn					C19orf2_uc002nsq.2_Missense_Mutation_p.D299N|C19orf2_uc002nss.2_Missense_Mutation_p.D277N|C19orf2_uc002nst.2_Missense_Mutation_p.D241N	p.D317N	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	8	979	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	317			Poly-Asp.		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.949G>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872164	0.33069	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.23552	1.9;1.9;1.9	5.5	2.17	0.27698	.	0.421175	0.20295	N	0.095158	T	0.15565	0.0375	N	0.25647	0.755	0.09310	N	1	B;B;B	0.16396	0.007;0.007;0.017	B;B;B	0.14578	0.011;0.008;0.008	T	0.18053	-1.0349	10	0.40728	T	0.16	-3.0731	6.6083	0.22737	0.1489:0.0:0.7066:0.1445	.	277;317;314	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	N	315;241;317;277	ENSP00000376097:D241N;ENSP00000442436:D317N;ENSP00000312530:D277N	ENSP00000312530:D277N	D	+	1	0	C19orf2	35192014	0.003000	0.15002	0.000000	0.03702	0.018000	0.09664	1.235000	0.32671	0.274000	0.22072	0.491000	0.48974	GAT		PASS	0.398	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		8	694	8	694	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39062862	39062862	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:39062862G>A	ENST00000359596.3	+	95	13950	c.13950G>A	c.(13948-13950)ctG>ctA	p.L4650L	RYR1_ENST00000355481.4_Silent_p.L4645L|RYR1_ENST00000360985.3_Silent_p.L4645L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4650			L -> P (in CCD; autosomal recessive form). {ECO:0000269|PubMed:12937085}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L4650L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGCCTCCTGCATACACTGG	0.567																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(13948-13950)CTG>CTA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						122.0	105.0	111.0					19																	39062862		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39062862G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13950G>A	19.37:g.39062862G>A						RYR1_uc002oiu.2_Silent_p.L4645L	p.L4650L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		95	14080	+	all_cancers(60;7.91e-06)		4650		L -> P (in CCD; autosomal recessive form).	Helical; Name=M6; (Potential).		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.13950G>A	CCDS33011.1																																																																																				PASS	0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			31	99	31	99	---	---	---	---
RASIP1	54922	broad.mit.edu	37	19	49225237	49225237	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:49225237T>A	ENST00000222145.4	-	11	2770	c.2566A>T	c.(2566-2568)Acc>Tcc	p.T856S	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	856	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.T856S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGTGGTCGGTTCTTAGGCTG	0.627																																						uc002pki.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2566-2568)ACC>TCC		Ras-interacting protein 1							56.0	57.0	57.0					19																	49225237		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49225237T>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2566A>T	19.37:g.49225237T>A	ENSP00000222145:p.Thr856Ser					MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.T117S	p.T856S	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	11	2763	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	856			Dilute.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2566A>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367702	0.24771	.	.	ENSG00000105538	ENST00000222145	T	0.20463	2.07	4.51	3.49	0.39957	Dilute (1);Dil domain (1);	0.328457	0.28140	N	0.016456	T	0.10551	0.0258	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.33777	-0.9855	10	0.13853	T	0.58	0.2443	8.366	0.32387	0.0:0.0955:0.0:0.9045	.	856	Q5U651	RAIN_HUMAN	S	856	ENSP00000222145:T856S	ENSP00000222145:T856S	T	-	1	0	RASIP1	53917049	0.266000	0.24112	0.941000	0.38009	0.120000	0.20174	1.421000	0.34815	0.875000	0.35847	0.397000	0.26171	ACC		PASS	0.627	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		17	53	17	53	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628378	51628378	+	Silent	SNP	C	C	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:51628378C>A	ENST00000250360.3	+	1	214	c.147C>A	c.(145-147)ggC>ggA	p.G49G	SIGLEC9_ENST00000440804.3_Silent_p.G49G	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	49	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.G49G(1)		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)		CCTCGCATGGCTGGATTTACC	0.577																																						uc002pvu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(145-147)GGC>GGA		sialic acid binding Ig-like lectin 9 precursor							133.0	91.0	105.0					19																	51628378		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628378C>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.147C>A	19.37:g.51628378C>A						SIGLEC9_uc010yct.1_Silent_p.G49G	p.G49G	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	214	+		all_neural(266;0.0529)	49			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.147C>A	CCDS12825.1																																																																																				PASS	0.577	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		17	50	17	50	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941348	52941348	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:52941348A>C	ENST00000332323.6	+	4	735	c.674A>C	c.(673-675)aAa>aCa	p.K225T	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.K212T	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K225T(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTGCAGATAAAACTTACAAA	0.383																																						uc002pzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)AAA>ACA		zinc finger protein 534 isoform 2							89.0	79.0	82.0					19																	52941348		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941348A>C	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.674A>C	19.37:g.52941348A>C	ENSP00000327538:p.Lys225Thr					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.K212T	p.K225T	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	735	+			225					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.674A>C	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	5.989	0.366346	0.11352	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.20463	2.07;2.07	1.81	-0.778	0.10977	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24736	0.0600	M	0.87456	2.885	0.18873	N	0.999985	B;B	0.29612	0.161;0.251	B;B	0.24974	0.057;0.026	T	0.20075	-1.0286	9	0.87932	D	0	.	3.8992	0.09152	0.5919:0.0:0.2431:0.165	.	212;225	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	T	225;212;224	ENSP00000327538:K225T;ENSP00000391358:K212T	ENSP00000327538:K225T	K	+	2	0	ZNF534	57633160	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.607000	0.01589	-2.589000	0.00165	AAA		PASS	0.383	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		23	75	23	75	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53057259	53057259	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:53057259C>T	ENST00000359798.4	+	5	1270	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L364F(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATCAAAGACTTCATACTGG	0.378																																						uc010epq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)CTT>TTT		zinc finger protein 808							96.0	101.0	100.0					19																	53057259		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057259C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1090C>T	19.37:g.53057259C>T	ENSP00000352846:p.Leu364Phe					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.L364F	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1267	+			364			C2H2-type 5.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1090C>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.984371	0.35036	.	.	ENSG00000198482	ENST00000359798	T	0.00776	5.71	1.5	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01489	0.0048	L	0.45051	1.395	0.20489	N	0.999895	P	0.48407	0.91	P	0.57468	0.821	T	0.45440	-0.9261	9	0.72032	D	0.01	.	3.5336	0.07786	0.6098:0.2331:0.1571:0.0	.	364	Q8N4W9	ZN808_HUMAN	F	364	ENSP00000352846:L364F	ENSP00000352846:L364F	L	+	1	0	ZNF808	57749071	0.000000	0.05858	0.053000	0.19242	0.071000	0.16799	-1.365000	0.02587	-0.805000	0.04404	0.195000	0.17529	CTT		PASS	0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		28	93	28	93	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572222	53572222	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:53572222G>C	ENST00000429604.1	-	7	1980	c.1565C>G	c.(1564-1566)tCa>tGa	p.S522*	ZNF160_ENST00000418871.1_Nonsense_Mutation_p.S522*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.S522*|ZNF160_ENST00000601421.1_Nonsense_Mutation_p.S486*	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	522					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S522*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGTCAGACTTGAACGAACACT	0.393																																						uc010eqk.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1564-1566)TCA>TGA		zinc finger protein 160							104.0	104.0	104.0					19																	53572222		2203	4300	6503	SO:0001587	stop_gained	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572222G>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1565C>G	19.37:g.53572222G>C	ENSP00000406201:p.Ser522*					ZNF160_uc002qaq.3_Nonsense_Mutation_p.S522*|ZNF160_uc002qar.3_Nonsense_Mutation_p.S522*	p.S522*	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1981	-			522			C2H2-type 10.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Nonsense_Mutation	SNP	ENST00000429604.1	37	c.1565C>G	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	37	6.098443	0.97281	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	.	.	.	2.41	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.8786	0.52562	0.0:0.0:1.0:0.0	.	.	.	.	X	522	.	ENSP00000409597:S522X	S	-	2	0	ZNF160	58264034	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.112000	0.10791	1.322000	0.45245	0.561000	0.74099	TCA		PASS	0.393	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		3	103	3	103	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325529	57325529	+	Silent	SNP	T	T	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr19:57325529T>C	ENST00000326441.9	-	10	4644	c.4281A>G	c.(4279-4281)ggA>ggG	p.G1427G	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.G1427G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.G1301G|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.G1303G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1427	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1427G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGCAGCCTCTCCATCTGGCC	0.602																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4279-4281)GGA>GGG		paternally expressed 3 isoform 1							45.0	47.0	46.0					19																	57325529		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325529T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4281A>G	19.37:g.57325529T>C						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G1398G|PEG3_uc002qnv.2_Silent_p.G1427G|PEG3_uc002qnw.2_Silent_p.G1303G|PEG3_uc002qnx.2_Silent_p.G1301G|PEG3_uc010etr.2_Silent_p.G1427G	p.G1427G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4632	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1427			1-2.|Glu-rich.|4 X 5 AA repeat of P-X-G-E-A.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4281A>G	CCDS12948.1																																																																																				PASS	0.602	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			3	105	3	105	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142527	21142527	+	RNA	SNP	G	G	C			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:21142527G>C	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AGTGCACGAGGGGATTAACTC	0.408																																						uc002wsb.2																			0					0						c.(421-423)GGG>CGG		polo-like kinase 1 substrate 1 isoform 1							67.0	61.0	63.0					20																	21142527		1908	4117	6025			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21142527G>C																													20.37:g.21142527G>C						PLK1S1_uc010zsh.1_Missense_Mutation_p.G38R|PLK1S1_uc010zsi.1_Missense_Mutation_p.G8R|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	p.G141R	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			5	554	+			141						Missense_Mutation	SNP	ENST00000591761.1	37	c.421G>C																																																																																					PASS	0.408	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			17	26	17	26	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31672750	31672750	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:31672750G>T	ENST00000375483.3	+	4	730	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	244						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G205C(1)									GCTCCTGCCCGGCGTGGGTGT	0.667																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GGC>TGC		antimicrobial peptide RY2G5 precursor							54.0	43.0	46.0					20																	31672750		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31672750G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.730G>T	20.37:g.31672750G>T	ENSP00000364632:p.Gly244Cys						p.G244C	NM_182519	NP_872325	P59827	LPLC4_HUMAN			4	745	+			244					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.730G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478373	0.63849	.	.	ENSG00000186191	ENST00000375483	T	0.06142	3.34	3.39	3.39	0.38822	.	0.196114	0.34507	N	0.003914	T	0.20820	0.0501	M	0.71206	2.165	0.46678	D	0.999158	D	0.89917	1.0	D	0.97110	1.0	T	0.00521	-1.1691	10	0.87932	D	0	-17.045	10.14	0.42730	0.0:0.0:1.0:0.0	.	244	P59827	BPIB4_HUMAN	C	244	ENSP00000364632:G244C	ENSP00000364632:G244C	G	+	1	0	BPIFB4	31136411	0.998000	0.40836	0.994000	0.49952	0.910000	0.53928	4.873000	0.63057	1.749000	0.51849	0.484000	0.47621	GGC		PASS	0.667	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		19	36	19	36	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35444582	35444582	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:35444582C>T	ENST00000357779.3	-	5	875	c.549G>A	c.(547-549)tcG>tcA	p.S183S	SOGA1_ENST00000279034.6_Silent_p.S183S|SOGA1_ENST00000237536.4_Silent_p.S421S|SOGA1_ENST00000456801.2_Silent_p.S24S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	183					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S421S(3)|p.S183S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCCCATAGAGCGAGCGGTACT	0.602																																						uc002xgd.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(547-549)TCG>TCA		hypothetical protein LOC140710 isoform 2							60.0	63.0	62.0					20																	35444582		2199	4292	6491	SO:0001819	synonymous_variant	140710							g.chr20:35444582C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.549G>A	20.37:g.35444582C>T						C20orf117_uc002xge.1_RNA	p.S183S	NM_199181	NP_954650	O94964	K0889_HUMAN			5	876	-		Myeloproliferative disorder(115;0.00874)	183					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.549G>A																																																																																					PASS	0.602	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		26	152	26	152	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47880003	47880003	+	Silent	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:47880003C>T	ENST00000396105.1	-	6	2415	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	ZNFX1_ENST00000371752.1_Silent_p.K723K|ZNFX1_ENST00000371754.4_Silent_p.K723K	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	723							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K723K(2)|p.K527K(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTCTGACTCCTTCATCTGTG	0.498																																						uc002xui.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2167-2169)AAG>AAA		zinc finger, NFX1-type containing 1							88.0	63.0	72.0					20																	47880003		2202	4299	6501	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47880003C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2169G>A	20.37:g.47880003C>T							p.K723K	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	2416	-			723					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2169G>A	CCDS13417.1																																																																																				PASS	0.498	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		9	15	9	15	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645146	52645146	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:52645146G>A	ENST00000395961.3	-	4	674	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	BCAS1_ENST00000371435.2_Missense_Mutation_p.P170S|BCAS1_ENST00000371440.3_Missense_Mutation_p.P170S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P73S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	170						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P170S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGAAGCGTGGGATCCCTGGCG	0.612																																						uc002xws.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(508-510)CCC>TCC		breast carcinoma amplified sequence 1							77.0	84.0	81.0					20																	52645146		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645146G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.508C>T	20.37:g.52645146G>A	ENSP00000379290:p.Pro170Ser					BCAS1_uc010zzb.1_Missense_Mutation_p.P73S|BCAS1_uc010gim.2_Missense_Mutation_p.P73S|BCAS1_uc002xwt.2_Missense_Mutation_p.P170S|BCAS1_uc010gil.1_Missense_Mutation_p.P170S|BCAS1_uc010zzc.1_Missense_Mutation_p.P73S	p.P170S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	846	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		170					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.508C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054107	0.55218	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	5.11	4.14	0.48551	.	0.528136	0.19324	N	0.117066	T	0.20455	0.0492	L	0.59436	1.845	0.09310	N	1	D;D;D;P;P;P	0.63046	0.992;0.992;0.992;0.921;0.902;0.902	P;P;P;P;P;P	0.60541	0.876;0.838;0.838;0.601;0.523;0.523	T	0.02417	-1.1162	10	0.56958	D	0.05	-0.9586	11.3847	0.49778	0.0872:0.0:0.9128:0.0	.	73;170;170;170;170;170	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	S	32;170;170;170;73	ENSP00000396361:P32S;ENSP00000360495:P170S;ENSP00000379290:P170S;ENSP00000360490:P170S;ENSP00000397442:P73S	ENSP00000360490:P170S	P	-	1	0	BCAS1	52078553	0.164000	0.22935	0.004000	0.12327	0.021000	0.10359	3.556000	0.53734	1.243000	0.43853	0.563000	0.77884	CCC		PASS	0.612	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		35	215	35	215	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58440891	58440891	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:58440891G>A	ENST00000357552.3	-	42	4575	c.4350C>T	c.(4348-4350)ttC>ttT	p.F1450F	SYCP2_ENST00000371001.2_Silent_p.F1450F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1450					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.F1450F(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATATGCACTGAACTTCTGAA	0.219																																						uc002yaz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)	5						c.(4348-4350)TTC>TTT		synaptonemal complex protein 2							15.0	16.0	16.0					20																	58440891		2123	4182	6305	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58440891G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4350C>T	20.37:g.58440891G>A							p.F1450F	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		41	4489	-	all_lung(29;0.00344)		1450					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.4350C>T	CCDS13482.1																																																																																				PASS	0.219	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		5	40	5	40	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62196906	62196906	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr20:62196906C>T	ENST00000467148.1	-	8	3338	c.3269G>A	c.(3268-3270)gGg>gAg	p.G1090E	HELZ2_ENST00000427522.2_Missense_Mutation_p.G521E	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1090					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G1090E(1)									CCCGTCCTCCCCGACGGTCAC	0.677																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(3268-3270)GGG>GAG		PPAR-alpha interacting complex protein 285							27.0	23.0	24.0					20																	62196906		2193	4292	6485	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196906C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3269G>A	20.37:g.62196906C>T	ENSP00000417401:p.Gly1090Glu					PRIC285_uc002yfl.1_Missense_Mutation_p.G521E	p.G1090E	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4161	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1090					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3269G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	8.064	0.768671	0.15983	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.78364	-1.17;-1.08	4.37	3.39	0.38822	.	2.186200	0.01951	N	0.042622	T	0.66005	0.2746	N	0.14661	0.345	0.09310	N	1	B;B	0.22211	0.031;0.066	B;B	0.17722	0.006;0.019	T	0.51919	-0.8644	10	0.24483	T	0.36	-8.5015	11.1845	0.48648	0.0:0.4865:0.5135:0.0	.	1090;521	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	E	521;1090	ENSP00000393257:G521E;ENSP00000417401:G1090E	ENSP00000393257:G521E	G	-	2	0	RP4-697K14.7	61667350	0.004000	0.15560	0.787000	0.31911	0.742000	0.42306	1.326000	0.33735	1.995000	0.58328	0.313000	0.20887	GGG		PASS	0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		12	42	12	42	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41725408	41725408	+	Silent	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr21:41725408G>A	ENST00000400454.1	-	5	1395	c.918C>T	c.(916-918)ggC>ggT	p.G306G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	306					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G306G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTACAGGCGGCCTATCACCT	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(916-918)GGC>GGT		Down syndrome cell adhesion molecule isoform							149.0	145.0	147.0					21																	41725408		2008	4179	6187	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41725408G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.918C>T	21.37:g.41725408G>A						DSCAM_uc002yyr.1_RNA	p.G306G	NM_001389	NP_001380	O60469	DSCAM_HUMAN			5	1370	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	306			Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.918C>T	CCDS42929.1																																																																																				PASS	0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	148	28	148	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17746389	17746389	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chrX:17746389C>T	ENST00000380060.3	+	6	4438	c.4100C>T	c.(4099-4101)gCc>gTc	p.A1367V	NHS_ENST00000398097.3_Missense_Mutation_p.A1211V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1388					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A1367V(1)|p.A1211V(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCCAAAAGTGCCTCTGATAAC	0.398																																						uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4099-4101)GCC>GTC		Nance-Horan syndrome protein isoform 1							55.0	53.0	54.0					X																	17746389		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746389C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4100C>T	X.37:g.17746389C>T	ENSP00000369400:p.Ala1367Val					NHS_uc011mix.1_Missense_Mutation_p.A1388V|NHS_uc004cxy.2_Missense_Mutation_p.A1211V|NHS_uc004cxz.2_Missense_Mutation_p.A1190V|NHS_uc004cya.2_Missense_Mutation_p.A1090V	p.A1367V	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	4438	+	Hepatocellular(33;0.183)		1367					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4100C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298430	0.81025	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50813	0.73;0.73	5.74	5.74	0.90152	.	0.206543	0.44097	D	0.000494	T	0.58524	0.2128	L	0.54323	1.7	0.58432	D	0.999999	P;P;P;P	0.51537	0.946;0.946;0.946;0.889	P;P;P;P	0.53062	0.586;0.586;0.586;0.717	T	0.55854	-0.8075	10	0.40728	T	0.16	-15.6919	18.8976	0.92430	0.0:1.0:0.0:0.0	.	1388;1209;1211;1367	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	V	1367;1211;1209	ENSP00000369400:A1367V;ENSP00000381170:A1211V	ENSP00000369397:A1209V	A	+	2	0	NHS	17656310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.257000	0.65473	2.410000	0.81850	0.600000	0.82982	GCC		PASS	0.398	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		21	8	21	8	---	---	---	---
CDK16	5127	broad.mit.edu	37	X	47086599	47086599	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chrX:47086599G>A	ENST00000357227.4	+	13	1685	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N	CDK16_ENST00000276052.6_Missense_Mutation_p.D495N|CDK16_ENST00000518022.1_Missense_Mutation_p.D421N|CDK16_ENST00000457458.2_Missense_Mutation_p.D427N	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)	p.D421N(1)|p.D495N(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						CGACGGGGCCGACCTCCTCAC	0.582																																						uc004dho.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1261-1263)GAC>AAC		PCTAIRE protein kinase 1 isoform 1							49.0	45.0	47.0					X																	47086599		2203	4300	6503	SO:0001583	missense	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47086599G>A		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.1261G>A	X.37:g.47086599G>A	ENSP00000349762:p.Asp421Asn					CDK16_uc011mli.1_Missense_Mutation_p.D427N|CDK16_uc011mlk.1_Missense_Mutation_p.D428N|CDK16_uc011mll.1_Missense_Mutation_p.D495N	p.D421N	NM_006201	NP_006192	Q00536	CDK16_HUMAN			13	1657	+			421			Protein kinase.		A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	c.1261G>A	CCDS14276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.816493|1.816493	0.32145|0.32145	.|.	.|.	ENSG00000102225|ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000540877;ENST00000540311;ENST00000518022;ENST00000276052;ENST00000523344|ENST00000520141;ENST00000462827	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	5.49|5.49	4.63|4.63	0.57726|0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.102198|.	0.64402|.	D|.	0.000004|.	T|T	0.62514|0.62514	0.2434|0.2434	M|M	0.64080|0.64080	1.96|1.96	0.49582|0.49582	D|D	0.999804|0.999804	B;B;B|.	0.32731|.	0.026;0.382;0.014|.	B;B;B|.	0.28849|.	0.017;0.095;0.011|.	T|T	0.60747|0.60747	-0.7202|-0.7202	10|5	0.48119|.	T|.	0.1|.	-18.4372|-18.4372	8.9259|8.9259	0.35641|0.35641	0.178:0.0:0.822:0.0|0.178:0.0:0.822:0.0	.|.	495;526;421|.	B7Z7C8;B7Z8T0;Q00536|.	.;.;CDK16_HUMAN|.	N|Q	427;421;526;373;421;495;185|7	ENSP00000405798:D427N;ENSP00000349762:D421N;ENSP00000429751:D421N;ENSP00000276052:D495N;ENSP00000428349:D185N|.	ENSP00000276052:D495N|.	D|R	+|+	1|2	0|0	CDK16|CDK16	46971543|46971543	0.995000|0.995000	0.38212|0.38212	0.994000|0.994000	0.49952|0.49952	0.702000|0.702000	0.40608|0.40608	3.192000|3.192000	0.50989|0.50989	1.199000|1.199000	0.43173|0.43173	0.529000|0.529000	0.55759|0.55759	GAC|CGA		PASS	0.582	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		12	7	12	7	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54814966	54814966	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chrX:54814966C>G	ENST00000218436.6	-	5	762	c.733G>C	c.(733-735)Gac>Cac	p.D245H	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	245					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D245H(1)									ACCAGGAAGTCAGCCATGATG	0.577																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(733-735)GAC>CAC		inter-alpha (globulin) inhibitor H5-like							164.0	97.0	120.0					X																	54814966		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814966C>G	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.733G>C	X.37:g.54814966C>G	ENSP00000218436:p.Asp245His						p.D245H	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			5	763	-			245					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.733G>C	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	8.202	0.798366	0.16397	.	.	ENSG00000102313	ENST00000218436	T	0.03831	3.79	4.26	0.325	0.15903	.	0.000000	0.85682	U	0.000000	T	0.10852	0.0265	M	0.70903	2.155	0.30901	N	0.729241	D	0.62365	0.991	P	0.56514	0.8	T	0.07481	-1.0770	10	0.56958	D	0.05	.	4.7197	0.12912	0.0:0.5578:0.1541:0.2881	.	245	Q6UXX5	ITH5L_HUMAN	H	245	ENSP00000218436:D245H	ENSP00000218436:D245H	D	-	1	0	ITIH5L	54831691	0.087000	0.21565	0.001000	0.08648	0.101000	0.19017	0.401000	0.20948	-0.431000	0.07307	0.171000	0.16805	GAC		PASS	0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		19	11	19	11	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110928309	110928309	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chrX:110928309C>T	ENST00000394780.3	+	3	373	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	ALG13_ENST00000371979.3_Missense_Mutation_p.H121Y|ALG13_ENST00000251943.4_Missense_Mutation_p.H17Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	121	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.H121Y(2)|p.H17Y(1)		endometrium(2)|lung(10)|skin(1)	13						CAAAGAGGGTCATCTCTTCTA	0.428																																						uc011msy.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(361-363)CAT>TAT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							228.0	216.0	220.0					X																	110928309		2203	4300	6503	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110928309C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.361C>T	X.37:g.110928309C>T	ENSP00000378260:p.His121Tyr					ALG13_uc004epi.1_Missense_Mutation_p.H121Y|ALG13_uc011msw.1_Missense_Mutation_p.H43Y|ALG13_uc011msx.1_Missense_Mutation_p.H17Y|ALG13_uc011msz.1_Missense_Mutation_p.H43Y|ALG13_uc011mta.1_Missense_Mutation_p.H17Y|ALG13_uc011mtb.1_Missense_Mutation_p.H17Y	p.H121Y			Q9NP73	ALG13_HUMAN			3	395	+			121					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.361C>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526485	0.64860	.	.	ENSG00000101901	ENST00000371979;ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T;T	0.74315	-0.83;0.91;-0.83;-0.83;0.92	6.17	3.39	0.38822	Glycosyl transferase, family 28, C-terminal (1);	.	.	.	.	T	0.64994	0.2649	.	.	.	0.22710	N	0.99882	B;B;B;B	0.15141	0.01;0.012;0.01;0.001	B;B;B;B	0.14578	0.006;0.011;0.004;0.007	T	0.58109	-0.7694	8	0.87932	D	0	.	8.274	0.31862	0.1268:0.7331:0.0:0.1401	.	43;121;17;121	Q9NP73-3;Q9NP73;Q9NP73-4;Q9NP73-2	.;ALG13_HUMAN;.;.	Y	121;17;121;121;17	ENSP00000361047:H121Y;ENSP00000251943:H17Y;ENSP00000426892:H121Y;ENSP00000378260:H121Y;ENSP00000427093:H17Y	ENSP00000251943:H17Y	H	+	1	0	ALG13	110814965	0.959000	0.32827	0.576000	0.28549	0.526000	0.34562	2.186000	0.42593	0.683000	0.31428	0.600000	0.82982	CAT		PASS	0.428	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		137	156	137	156	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115574932	115574932	+	Silent	SNP	G	G	T			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chrX:115574932G>T	ENST00000371900.4	+	5	718	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	210					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G210G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATCAGCCAGGGCAGCTTCCCA	0.328																																						uc004eqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(628-630)GGG>GGT		solute carrier family 6 (amino acid	L-Proline(DB00172)						81.0	73.0	76.0					X																	115574932		2203	4300	6503	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115574932G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.630G>T	X.37:g.115574932G>T						SLC6A14_uc011mtm.1_RNA	p.G210G	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			5	734	+			210			Extracellular (Potential).		Q5H942	Silent	SNP	ENST00000371900.4	37	c.630G>T	CCDS14570.1																																																																																				PASS	0.328	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			28	48	28	48	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226048639	226048639	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr1:226048639delG	ENST00000366835.3	-	14	1414	c.1144delC	c.(1144-1146)cagfs	p.Q382fs	TMEM63A_ENST00000537914.1_Frame_Shift_Del_p.Q56fs|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	382					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GAGGACGGCTGGGGCTCACCT	0.547																																						uc001hpm.1																			0				ovary(1)|breast(1)	2						c.(1144-1146)CAGfs		transmembrane protein 63A							160.0	147.0	151.0					1																	226048639		2203	4300	6503	SO:0001589	frameshift_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226048639delG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1144delC	1.37:g.226048639delG	ENSP00000355800:p.Gln382fs						p.Q382fs	NM_014698	NP_055513	O94886	TM63A_HUMAN			14	1394	-	Breast(184;0.197)		382					Q53GI7|Q5TE96|Q8N2U2	Frame_Shift_Del	DEL	ENST00000366835.3	37	c.1144delC	CCDS31042.1																																																																																					0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		123	119	123	119	---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239237421	239237423	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr2:239237421_239237423delATA	ENST00000373327.4	+	4	671_673	c.449_451delATA	c.(448-453)gataat>gat	p.N151del	TRAF3IP1_ENST00000391993.3_In_Frame_Del_p.N151del|TRAF3IP1_ENST00000391994.2_In_Frame_Del_p.N151del	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	151	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAGGAATTGGATAATAAGAATGT	0.448																																						uc002vye.2																			0				ovary(1)	1						c.(448-453)GATAAT>GAT		TNF receptor-associated factor 3 interacting																																				SO:0001651	inframe_deletion	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237421_239237423delATA	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.449_451delATA	2.37:g.239237424_239237426delATA	ENSP00000362424:p.Asn151del					TRAF3IP1_uc002vyf.2_In_Frame_Del_p.N151del	p.N151del	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	4	568_570	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	151			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	In_Frame_Del	DEL	ENST00000373327.4	37	c.449_451delATA	CCDS33415.1																																																																																					0.448	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		38	30	38	30	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggagtfs	p.S668fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S668fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S492fs|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S588fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S668fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.S668fs*26(1)|p.S668fs*39(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1999-2004)GGGAGTfs		F-box and WD repeat domain containing 7 isoform																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244155_153244156insC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2002dupG	4.37:g.153244161_153244161dupC	ENSP00000281708:p.Ser668fs					FBXW7_uc011cii.1_Frame_Shift_Ins_p.G667fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.G667fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.G491fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.G587fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.G549fs	p.G667fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2150_2151	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	667_668					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.2001_2002insG	CCDS3777.1																																																																																					0.485	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			178	129	178	129	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7709413	7709416	+	Frame_Shift_Del	DEL	CTTG	CTTG	-			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr5:7709413_7709416delCTTG	ENST00000338316.4	+	10	1580_1583	c.1491_1494delCTTG	c.(1489-1494)tacttgfs	p.YL497fs	ADCY2_ENST00000537121.1_Frame_Shift_Del_p.YL317fs|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	497					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L498V(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGACCCGGTACTTGGAGTCCTGGG	0.613																																						uc003jdz.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1489-1494)TACTTGfs		adenylate cyclase 2																																				SO:0001589	frameshift_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709413_7709416delCTTG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1491_1494delCTTG	5.37:g.7709413_7709416delCTTG	ENSP00000342952:p.Tyr497fs					ADCY2_uc011cmo.1_Frame_Shift_Del_p.Y317fs	p.Y497fs	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			10	1558_1561	+			497_498			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Frame_Shift_Del	DEL	ENST00000338316.4	37	c.1491_1494delCTTG	CCDS3872.2																																																																																					0.613	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		41	41	41	41	---	---	---	---
SLC15A1	6564	broad.mit.edu	37	13	99371545	99371545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr13:99371545delC	ENST00000376503.5	-	8	641	c.586delG	c.(586-588)gctfs	p.A196fs		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	196					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGGTAACAAGCTTGTTTACTG	0.423																																						uc001vno.2																			0				ovary(1)	1						c.(586-588)GCTfs		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						154.0	153.0	153.0					13																	99371545		2203	4300	6503	SO:0001589	frameshift_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99371545delC	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.586delG	13.37:g.99371545delC	ENSP00000365686:p.Ala196fs						p.A196fs	NM_005073	NP_005064	P46059	S15A1_HUMAN			8	663	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		196			Extracellular (Potential).		Q5VW82	Frame_Shift_Del	DEL	ENST00000376503.5	37	c.586delG	CCDS9489.1																																																																																					0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		38	66	38	66	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41029852	41029852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr15:41029852delC	ENST00000260385.6	-	9	2265	c.1198delG	c.(1198-1200)gaafs	p.E400fs	RMDN3_ENST00000338376.3_Frame_Shift_Del_p.E400fs|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	400					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGGGCATCTTCCACAGTGGCA	0.478																																						uc001zmo.1																			0					0						c.(1198-1200)GAAfs		family with sequence similarity 82, member A2							64.0	65.0	64.0					15																	41029852		2203	4300	6503	SO:0001589	frameshift_variant	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41029852delC	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1198delG	15.37:g.41029852delC	ENSP00000260385:p.Glu400fs					FAM82A2_uc001zmp.1_Frame_Shift_Del_p.E400fs|FAM82A2_uc001zmq.1_Frame_Shift_Del_p.E400fs	p.E400fs	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			10	1342	-			400					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Del	DEL	ENST00000260385.6	37	c.1198delG	CCDS10063.1																																																																																					0.478	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		67	46	67	46	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579527	7579542	+	Frame_Shift_Del	DEL	ACCATTGTTCAATATC	ACCATTGTTCAATATC	-	rs587782609|rs370502517|rs587780728		TCGA-22-4593-01A-21D-1817-08	TCGA-22-4593-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b4a48075-92fd-43ab-95f3-476bcea88d7b	fc5c19b6-d735-4f4c-86b1-11a84bc07e66	g.chr17:7579527_7579542delACCATTGTTCAATATC	ENST00000269305.4	-	4	334_349	c.145_160delGATATTGAACAATGGT	c.(145-162)gatattgaacaatggttcfs	p.DIEQWF49fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.DIEQWF49fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DIEQWF49fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DIEQWF49fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.DIEQWF49fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DIEQWF49fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	49	Interaction with HRMT1L2.		D -> H (in sporadic cancers; somatic mutation).|D -> N (in a sporadic cancer; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q52*(12)|p.W53*(10)|p.0?(8)|p.E51*(6)|p.D49H(5)|p.E51fs*6(3)|p.D49N(3)|p.I50fs*73(3)|p.D49Y(2)|p.W53C(2)|p.Q52H(1)|p.Q52>P*(1)|p.I50fs*4(1)|p.I50fs*1(1)|p.E51fs*72(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.E51_Q52insX(1)|p.S33fs*23(1)|p.E51E(1)|p.Q52fs*6(1)|p.P13fs*18(1)|p.F54fs*69(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.S46_D49delSPDD(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTTCAGTGAACCATTGTTCAATATCGTCCGGGGAC	0.606		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		70	Substitution - Nonsense(28)|Substitution - Missense(13)|Deletion - Frameshift(12)|Whole gene deletion(8)|Insertion - Frameshift(5)|Deletion - In frame(1)|Complex - insertion inframe(1)|Substitution - coding silent(1)|Insertion - In frame(1)	p.W53*(10)|p.0?(7)|p.E51*(6)|p.Q52*(6)|p.D49H(4)|p.D49Y(2)|p.W53C(2)|p.Q52H(1)|p.Q52>P*(1)|p.I50fs*4(1)|p.I50fs*1(1)|p.E51fs*72(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.E51_Q52insX(1)|p.E51E(1)|p.S33fs*23(1)|p.Q52fs*6(1)|p.P13fs*18(1)|p.F54fs*69(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.S46_D49delSPDD(1)	upper_aerodigestive_tract(15)|ovary(10)|haematopoietic_and_lymphoid_tissue(7)|urinary_tract(7)|central_nervous_system(6)|skin(4)|prostate(4)|bone(4)|breast(3)|stomach(2)|lung(2)|large_intestine(1)|soft_tissue(1)|kidney(1)|endometrium(1)|liver(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM077985	TP53	M		c.(145-162)GATATTGAACAATGGTTCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579527_7579542delACCATTGTTCAATATC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.145_160delGATATTGAACAATGGT	17.37:g.7579527_7579542delACCATTGTTCAATATC	ENSP00000269305:p.Asp49fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.D49fs|TP53_uc002gih.2_Frame_Shift_Del_p.D49fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D49fs|TP53_uc010cni.1_Frame_Shift_Del_p.D49fs|TP53_uc002gij.2_Frame_Shift_Del_p.D49fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D10fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D64fs	p.D49fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	339_354	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	49_54		F -> Y (in a sporadic cancer; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).	TADII.|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.145_160delGATATTGAACAATGGT	CCDS11118.1																																																																																					0.606	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	68	72	68	---	---	---	---
