#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
CCDC27	148870	broad.mit.edu	37	1	3680356	3680356	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:3680356G>A	ENST00000294600.2	+	8	1492	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	470								p.E470K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCTGCAGAAGGAGCTCCGAGA	0.567																																						uc001akv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1408-1410)GAG>AAG		coiled-coil domain containing 27							57.0	56.0	56.0					1																	3680356		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3680356G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1408G>A	1.37:g.3680356G>A	ENSP00000294600:p.Glu470Lys						p.E470K	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	8	1489	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	470					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1408G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667939	0.67814	.	.	ENSG00000162592	ENST00000294600	T	0.24350	1.86	4.76	4.76	0.60689	.	0.197126	0.34652	N	0.003794	T	0.35451	0.0932	L	0.34521	1.04	0.43065	D	0.994699	D	0.67145	0.996	P	0.61874	0.895	T	0.04767	-1.0928	10	0.41790	T	0.15	-42.7627	13.6216	0.62140	0.0:0.0:1.0:0.0	.	470	Q2M243	CCD27_HUMAN	K	470	ENSP00000294600:E470K	ENSP00000294600:E470K	E	+	1	0	CCDC27	3670216	1.000000	0.71417	0.944000	0.38274	0.697000	0.40408	4.792000	0.62467	2.356000	0.79943	0.462000	0.41574	GAG		PASS	0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		38	74	38	74	---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	5923438	5923438	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:5923438C>A	ENST00000378156.4	-	30	4433	c.4168G>T	c.(4168-4170)Ggc>Tgc	p.G1390C	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1390					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.G1390C(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AACTGCAAGCCGATGGTGTAG	0.542																																						uc001alq.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(4168-4170)GGC>TGC		nephroretinin							159.0	173.0	168.0					1																	5923438		2085	4192	6277	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5923438C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4168G>T	1.37:g.5923438C>A	ENSP00000367398:p.Gly1390Cys					NPHP4_uc001alr.1_3'UTR	p.G1390C	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	30	4434	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1390					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.4168G>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085996	0.76642	.	.	ENSG00000131697	ENST00000378156	D	0.89196	-2.48	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.94525	0.8237	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94069	0.7333	10	0.42905	T	0.14	.	17.8807	0.88840	0.0:1.0:0.0:0.0	.	1390	O75161	NPHP4_HUMAN	C	1390	ENSP00000367398:G1390C	ENSP00000367398:G1390C	G	-	1	0	NPHP4	5846025	1.000000	0.71417	0.994000	0.49952	0.451000	0.32288	5.678000	0.68153	2.428000	0.82296	0.655000	0.94253	GGC		PASS	0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			61	140	61	140	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34006908	34006908	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:34006908G>T	ENST00000373381.4	-	59	9455	c.9279C>A	c.(9277-9279)gtC>gtA	p.V3093V		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3067	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2949V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGTTTATGACTAGGATAA	0.493																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(8845-8847)GTC>GTA		CUB and Sushi multiple domains 2							91.0	93.0	92.0					1																	34006908		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006908G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9278-1C>A	1.37:g.34006908G>T						CSMD2_uc001bxm.1_Silent_p.V3093V	p.V2949V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			58	8876	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2949			Sushi 21.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.8847C>A																																																																																					PASS	0.493	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	Silent	29	64	29	64	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74957880	74957880	+	Intron	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:74957880G>T	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_Missense_Mutation_p.A862S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A761S|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A875S			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.A761S(1)		NS(1)|breast(1)|lung(2)	4						GAGTCATGTGGCAGCATTAAG	0.478																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2281-2283)GCA>TCA		TNNI3 interacting kinase isoform b							200.0	203.0	202.0					1																	74957880		2203	4300	6503	SO:0001627	intron_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74957880G>T			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8821C>A	1.37:g.74957880G>T						TNNI3K_uc001dge.1_Missense_Mutation_p.A862S	p.A761S	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			23	2332	+			761						Missense_Mutation	SNP	ENST00000294635.4	37	c.2281G>T		.	.	.	.	.	.	.	.	.	.	G	12.82	2.054023	0.36277	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74842	-0.88;-0.88;-0.87	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	L	0.34521	1.04	0.53005	D	0.999961	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.69172	-0.5215	10	0.17832	T	0.49	.	16.2141	0.82191	0.0:0.0:0.866:0.134	.	761;862	Q59H18;Q59H18-1	TNI3K_HUMAN;.	S	862;862;761	ENSP00000450895:A862S;ENSP00000359928:A862S;ENSP00000322251:A761S	ENSP00000322251:A761S	A	+	1	0	RP11-653A5.2;AC093158.1	74730468	1.000000	0.71417	0.994000	0.49952	0.383000	0.30230	6.001000	0.70685	1.416000	0.47057	-0.152000	0.13540	GCA		PASS	0.478	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			59	322	59	322	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037835	75037835	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:75037835C>A	ENST00000326665.5	-	14	3777	c.3559G>T	c.(3559-3561)Gac>Tac	p.D1187Y	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1187	Glu-rich.							p.D1187Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTCTGTGTCTCTGGCTTCA	0.527																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3559-3561)GAC>TAC		hypothetical protein LOC127254							150.0	147.0	148.0					1																	75037835		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037835C>A																												ENST00000326665.5:c.3559G>T	1.37:g.75037835C>A	ENSP00000322609:p.Asp1187Tyr						p.D1187Y	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3778	-			1187			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3559G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493425	0.44352	.	.	ENSG00000178965	ENST00000326665	T	0.15834	2.39	5.1	3.2	0.36748	.	.	.	.	.	T	0.06050	0.0157	L	0.36672	1.1	0.21762	N	0.999559	P	0.39022	0.655	B	0.40677	0.337	T	0.25813	-1.0121	9	0.62326	D	0.03	-11.2542	6.6211	0.22804	0.1437:0.6953:0.0:0.161	.	1187	Q5RHP9	CA173_HUMAN	Y	1187	ENSP00000322609:D1187Y	ENSP00000322609:D1187Y	D	-	1	0	C1orf173	74810423	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.878000	0.28126	0.541000	0.28827	0.561000	0.74099	GAC		PASS	0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			114	274	114	274	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91859730	91859730	+	Silent	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:91859730A>T	ENST00000370425.3	-	4	512	c.414T>A	c.(412-414)ccT>ccA	p.P138P	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	138					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.P138P(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTCTTCTCAGGTGCTATCT	0.338																																						uc001doa.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)CCT>CCA		HFM1 protein							90.0	89.0	89.0					1																	91859730		2202	4300	6502	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859730A>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.414T>A	1.37:g.91859730A>T						HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.P138P	p.P138P	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	514	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	138					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.414T>A	CCDS30769.2																																																																																				PASS	0.338	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		54	137	54	137	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99772498	99772498	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:99772498A>T	ENST00000370185.3	+	7	2721	c.2224A>T	c.(2224-2226)Aac>Tac	p.N742Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.N684Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.N584Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		742					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.N742Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGAAAGAAGCAACAGCCCCGA	0.493																																						uc001dse.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2224-2226)AAC>TAC		plasticity related gene 1							68.0	67.0	67.0					1																	99772498		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772498A>T																												ENST00000370185.3:c.2224A>T	1.37:g.99772498A>T	ENSP00000359204:p.Asn742Tyr					LPPR4_uc010oue.1_Missense_Mutation_p.N684Y	p.N742Y	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2330	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	742					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2224A>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567405	0.45694	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.24350	2.43;2.43;1.86	6.02	6.02	0.97574	.	0.140383	0.64402	D	0.000009	T	0.22589	0.0545	L	0.40543	1.245	0.42198	D	0.99175	P;P	0.47191	0.891;0.845	P;B	0.51355	0.667;0.36	T	0.00942	-1.1506	9	.	.	.	-24.8761	16.5446	0.84426	1.0:0.0:0.0:0.0	.	684;742	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Y	742;684;584	ENSP00000359204:N742Y;ENSP00000394913:N684Y;ENSP00000359203:N584Y	.	N	+	1	0	RP4-788L13.1	99545086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.897000	0.69831	2.311000	0.77944	0.533000	0.62120	AAC		PASS	0.493	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			19	170	19	170	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101203708	101203708	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:101203708C>G	ENST00000294728.2	+	9	2190	c.2089C>G	c.(2089-2091)Cct>Gct	p.P697A	VCAM1_ENST00000347652.2_Missense_Mutation_p.P605A|VCAM1_ENST00000370119.4_Missense_Mutation_p.P635A|VCAM1_ENST00000370115.1_Missense_Mutation_p.P498A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	697					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.P697A(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTATTTTTCTCCTGAGCTTCT	0.333																																						uc001dti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2089-2091)CCT>GCT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						157.0	165.0	162.0					1																	101203708		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101203708C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2089C>G	1.37:g.101203708C>G	ENSP00000294728:p.Pro697Ala					VCAM1_uc001dtj.2_Missense_Mutation_p.P605A|VCAM1_uc010ouj.1_Missense_Mutation_p.P635A	p.P697A	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	9	2209	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	697			Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.2089C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798668	0.31777	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.61510	0.62;0.1;1.1;1.01	6.08	5.08	0.68730	.	0.261718	0.40908	D	0.000992	T	0.33527	0.0866	L	0.29908	0.895	0.28411	N	0.918167	P;P;P	0.49635	0.819;0.811;0.926	B;B;P	0.45138	0.266;0.332;0.471	T	0.15636	-1.0430	10	0.42905	T	0.14	-7.2319	13.2898	0.60264	0.0:0.922:0.0:0.078	.	635;605;697	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	A	635;605;697;498	ENSP00000359137:P635A;ENSP00000304611:P605A;ENSP00000294728:P697A;ENSP00000359133:P498A	ENSP00000294728:P697A	P	+	1	0	VCAM1	100976296	0.655000	0.27376	0.778000	0.31720	0.036000	0.12997	2.381000	0.44336	1.423000	0.47198	0.591000	0.81541	CCT		PASS	0.333	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		110	268	110	268	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103488298	103488298	+	Splice_Site	SNP	G	G	T	rs371490794		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:103488298G>T	ENST00000370096.3	-	8	1557	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COL11A1_ENST00000353414.4_Splice_Site_p.S376R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Splice_Site_p.S427R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	415	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.S427R(1)|p.S415R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCAACTTACGCTTGTTTCTG	0.333																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1243-1245)AGC>AGA		alpha 1 type XI collagen isoform A							94.0	94.0	94.0					1																	103488298		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488298G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1245+1C>A	1.37:g.103488298G>T						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.S427R|COL11A1_uc001dun.2_Missense_Mutation_p.S376R|COL11A1_uc009weh.2_Intron	p.S415R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1563	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	415			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1245C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874125	0.33069	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;D	0.88046	-2.33;-0.57;-2.33;-1.85	5.41	0.087	0.14448	.	0.270729	0.42420	D	0.000711	T	0.79644	0.4481	M	0.68593	2.085	0.40691	D	0.982397	P;D;P	0.53151	0.918;0.958;0.929	P;P;B	0.47162	0.54;0.54;0.339	T	0.76383	-0.2979	9	.	.	.	.	9.0946	0.36632	0.4644:0.0:0.5356:0.0	.	376;427;415	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	R	415;427;376;427	ENSP00000359114:S415R;ENSP00000351163:S427R;ENSP00000302551:S376R;ENSP00000408640:S427R	.	S	-	3	2	COL11A1	103260886	0.989000	0.36119	0.998000	0.56505	0.958000	0.62258	0.182000	0.16900	-0.027000	0.13873	0.643000	0.83706	AGC		PASS	0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	21	169	21	169	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111969180	111969180	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:111969180C>A	ENST00000369732.3	-	3	194	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	47					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.D47Y(1)|p.D89Y(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAAGGGGTCCAGGTCATGG	0.512																																						uc001eba.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(139-141)GAC>TAC		oviductal glycoprotein 1 precursor							90.0	91.0	91.0					1																	111969180		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969180C>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.139G>T	1.37:g.111969180C>A	ENSP00000358747:p.Asp47Tyr					OVGP1_uc001eaz.2_5'UTR|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.D37Y	p.D47Y	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	195	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	47					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.139G>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238870	0.79800	.	.	ENSG00000085465	ENST00000369732;ENST00000369728	T	0.07327	3.2	4.57	4.57	0.56435	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.108153	0.64402	D	0.000003	T	0.34687	0.0906	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53222	-0.8469	10	0.87932	D	0	-24.1193	15.2287	0.73369	0.0:1.0:0.0:0.0	.	47;47	B2RA77;Q12889	.;OVGP1_HUMAN	Y	47;89	ENSP00000358747:D47Y	ENSP00000358743:D89Y	D	-	1	0	OVGP1	111770703	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.738000	0.74822	2.523000	0.85059	0.491000	0.48974	GAC		PASS	0.512	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		16	101	16	101	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111969196	111969196	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:111969196G>C	ENST00000369732.3	-	3	178	c.123C>G	c.(121-123)atC>atG	p.I41M	OVGP1_ENST00000540696.1_De_novo_Start_InFrame	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	41					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.I41M(1)|p.I83M(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CATGGGGCAAGATCGAGGCAG	0.507																																						uc001eba.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(121-123)ATC>ATG		oviductal glycoprotein 1 precursor							84.0	84.0	84.0					1																	111969196		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969196G>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.123C>G	1.37:g.111969196G>C	ENSP00000358747:p.Ile41Met					OVGP1_uc001eaz.2_Translation_Start_Site|OVGP1_uc010owb.1_Translation_Start_Site|OVGP1_uc010owc.1_Missense_Mutation_p.I31M	p.I41M	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	179	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	41					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.123C>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547429	0.27652	.	.	ENSG00000085465	ENST00000369732;ENST00000369728	T	0.05447	3.44	4.57	3.66	0.41972	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.938409	0.09097	N	0.849039	T	0.02380	0.0073	N	0.20766	0.605	0.41919	D	0.990507	B;B	0.30727	0.292;0.292	B;B	0.33568	0.166;0.166	T	0.35375	-0.9791	10	0.66056	D	0.02	-1.7757	10.4833	0.44706	0.0958:0.0:0.9042:0.0	.	41;41	B2RA77;Q12889	.;OVGP1_HUMAN	M	41;83	ENSP00000358747:I41M	ENSP00000358743:I83M	I	-	3	3	OVGP1	111770719	0.008000	0.16893	0.007000	0.13788	0.623000	0.37688	0.903000	0.28475	1.275000	0.44379	0.491000	0.48974	ATC		PASS	0.507	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		16	87	16	87	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113657152	113657152	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:113657152C>T	ENST00000361127.5	+	15	2382	c.2184C>T	c.(2182-2184)aaC>aaT	p.N728N	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	728	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N728N(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTCGTCTCAACTGGACTAAAG	0.502																																						uc001edf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2182-2184)AAC>AAT		leucine-rich repeats and immunoglobulin-like							108.0	99.0	102.0					1																	113657152		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657152C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2184C>T	1.37:g.113657152C>T						LRIG2_uc009wgn.1_Silent_p.N625N	p.N728N	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2382	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	728			Ig-like C2-type 3.|Extracellular (Potential).		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2184C>T	CCDS30808.1																																																																																				PASS	0.502	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		65	115	65	115	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114640424	114640424	+	Missense_Mutation	SNP	G	G	T	rs556527664	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:114640424G>T	ENST00000610222.1	-	6	1586	c.1440C>A	c.(1438-1440)aaC>aaA	p.N480K	SYT6_ENST00000369547.1_Missense_Mutation_p.N395K|SYT6_ENST00000393296.1_Missense_Mutation_p.N480K|SYT6_ENST00000607941.1_Missense_Mutation_p.N395K|SYT6_ENST00000609117.1_Missense_Mutation_p.N395K			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	480					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.N395K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCATCTCGTTCCAGTGGT	0.572																																						uc001eev.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1183-1185)AAC>AAA		synaptotagmin VI							129.0	114.0	119.0					1																	114640424		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114640424G>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1440C>A	1.37:g.114640424G>T	ENSP00000476396:p.Asn480Lys					SYT6_uc001eeu.2_Missense_Mutation_p.N40K	p.N395K	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1435	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	480			Cytoplasmic (Potential).		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.1185C>A		.	.	.	.	.	.	.	.	.	.	G	15.34	2.804359	0.50315	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.37	-6.74	0.01743	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	L	0.56769	1.78	0.54753	D	0.999988	D;P	0.60160	0.987;0.888	D;P	0.63488	0.915;0.733	T	0.78565	-0.2155	10	0.49607	T	0.09	.	16.6578	0.85233	0.7235:0.0:0.2765:0.0	.	480;395	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	K	395;480;395;480	ENSP00000358560:N395K;ENSP00000376974:N480K;ENSP00000358559:N395K;ENSP00000358558:N480K	ENSP00000358558:N480K	N	-	3	2	SYT6	114441947	0.095000	0.21747	0.888000	0.34837	0.945000	0.59286	-0.525000	0.06214	-1.222000	0.02587	-0.672000	0.03802	AAC		PASS	0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		21	134	21	134	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	145075747	145075747	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:145075747G>T	ENST00000530740.1	-	1	154	c.116C>A	c.(115-117)aCc>aAc	p.T39N	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.T39N|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.T39N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.T39N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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.T39N(1)		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)		GGACTGAGGGGTTCGCGTCGC	0.736			T	PDGFRB	MPD																																	uc001emh.2				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - Missense(1)		lung(1)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(115-117)ACC>AAC		phosphodiesterase 4D interacting protein isoform							42.0	54.0	50.0					1																	145075747		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075747G>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	ENST00000530740.1:c.116C>A	1.37:g.145075747G>T	ENSP00000435654:p.Thr39Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.T39N|PDE4DIP_uc001emk.2_Missense_Mutation_p.T39N	p.T39N	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	333	-			713					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	ENST00000530740.1	37	c.116C>A		.	.	.	.	.	.	.	.	.	.	G	11.66	1.705329	0.30232	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.10860	4.46;4.46;2.83	3.4	0.314	0.15847	.	.	.	.	.	T	0.02156	0.0067	N	0.19112	0.55	0.09310	N	1	B;B	0.32160	0.358;0.165	B;B	0.35470	0.203;0.029	T	0.44345	-0.9334	9	0.87932	D	0	.	3.7306	0.08491	0.2427:0.2047:0.5527:0.0	.	39;39	Q5TB27;E9PJ64	.;.	N	39	ENSP00000435654:T39N;ENSP00000358366:T39N;ENSP00000358354:T39N	ENSP00000358351:T39N	T	-	2	0	PDE4DIP	143787104	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.449000	0.21744	-0.040000	0.13580	0.511000	0.50034	ACC		PASS	0.736	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		9	154	9	154	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587																																						uc001etc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(160-162)GGC>GAC		histone cluster 2, H2be							179.0	169.0	173.0					1																	149858030		2203	4298	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858030C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp					HIST2H2AC_uc001etd.2_5'Flank	p.G54D	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	203	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.161G>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC		PASS	0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		7	485	7	485	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151109545	151109545	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:151109545C>A	ENST00000341697.3	-	11	2453	c.762G>T	c.(760-762)caG>caT	p.Q254H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q254H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCGGGAGAACTGCACCTAGG	0.592																																						uc001ewu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(760-762)CAG>CAT		semaphorin Y precursor							55.0	53.0	53.0					1																	151109545		2203	4299	6502	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151109545C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.762G>T	1.37:g.151109545C>A	ENSP00000344148:p.Gln254His					SEMA6C_uc001ewv.2_Missense_Mutation_p.Q254H|SEMA6C_uc001eww.2_Missense_Mutation_p.Q214H|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q254H|SEMA6C_uc009wml.1_RNA	p.Q254H	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	1062	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		254			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.762G>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464445	0.63513	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.69	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.269957	0.37393	N	0.002109	T	0.06371	0.0164	N	0.11064	0.09	0.30773	N	0.742834	D;D;D;D	0.71674	0.99;0.995;0.994;0.998	D;D;D;D	0.83275	0.926;0.989;0.916;0.996	T	0.10359	-1.0633	10	0.87932	D	0	.	6.447	0.21882	0.0:0.7172:0.1846:0.0982	.	254;214;254;254	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	H	254;214;254;254;254	ENSP00000357910:Q254H;ENSP00000357908:Q214H;ENSP00000357909:Q254H;ENSP00000344148:Q254H	ENSP00000344148:Q254H	Q	-	3	2	SEMA6C	149376169	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	0.776000	0.26704	1.191000	0.43056	0.561000	0.74099	CAG		PASS	0.592	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		44	121	44	121	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642911	156642911	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:156642911G>C	ENST00000368223.3	-	4	1201	c.1069C>G	c.(1069-1071)Ccc>Gcc	p.P357A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	357	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.P357A(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTGAGGGGAGGGAAGTT	0.597																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1069-1071)CCC>GCC		nestin							38.0	48.0	45.0					1																	156642911		2203	4299	6502	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642911G>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1069C>G	1.37:g.156642911G>C	ENSP00000357206:p.Pro357Ala						p.P357A	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1202	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		357			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1069C>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939806	0.34189	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.85861	-2.04	4.14	-1.86	0.07760	.	0.567222	0.13409	N	0.390031	T	0.54319	0.1851	L	0.34521	1.04	0.09310	N	0.999997	B	0.21905	0.062	B	0.19148	0.024	T	0.47018	-0.9149	10	0.46703	T	0.11	.	3.5497	0.07841	0.4755:0.0:0.3277:0.1968	.	357	P48681	NEST_HUMAN	A	357	ENSP00000357206:P357A	ENSP00000255024:P357A	P	-	1	0	NES	154909535	0.964000	0.33143	0.758000	0.31321	0.984000	0.73092	0.470000	0.22084	-0.263000	0.09378	0.313000	0.20887	CCC		PASS	0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		35	115	35	115	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157559034	157559034	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498																																						uc001fqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(265-267)GGC>GGT		Fc receptor-like 4 precursor							77.0	81.0	79.0					1																	157559034		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559034G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.267C>T	1.37:g.157559034G>A						FCRL4_uc010phy.1_RNA	p.G89G	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			3	403	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	89			Extracellular (Potential).|Ig-like C2-type 1.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.267C>T	CCDS1166.1																																																																																				PASS	0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		8	203	8	203	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157665949	157665949	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:157665949G>T	ENST00000368184.3	-	7	1304	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S338Y|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	338	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S338Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCCAACAGGGAACGCTGGGT	0.527																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1012-1014)TCC>TAC		Fc receptor-like 3 precursor							138.0	122.0	128.0					1																	157665949		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665949G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1013C>A	1.37:g.157665949G>T	ENSP00000357167:p.Ser338Tyr					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S338Y|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.S64Y|FCRL3_uc001frc.1_Missense_Mutation_p.S338Y	p.S338Y	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1305	-	all_hematologic(112;0.0378)		338			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1013C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313787	0.40996	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12672	2.66;2.66	4.83	3.89	0.44902	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.908671	0.09193	N	0.835791	T	0.33381	0.0861	M	0.92122	3.275	0.09310	N	1	D;D;D	0.89917	1.0;0.984;1.0	D;D;D	0.79784	0.993;0.972;0.988	T	0.14699	-1.0463	10	0.62326	D	0.03	.	9.2387	0.37481	0.1016:0.0:0.8984:0.0	.	338;243;338	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Y	338	ENSP00000357169:S338Y;ENSP00000357167:S338Y	ENSP00000292392:S338Y	S	-	2	0	FCRL3	155932573	0.455000	0.25736	0.021000	0.16686	0.005000	0.04900	1.973000	0.40550	2.504000	0.84457	0.655000	0.94253	TCC		PASS	0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		52	118	52	118	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157739847	157739847	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:157739847T>C	ENST00000361516.3	-	4	452	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	FCRL2_ENST00000392274.3_Missense_Mutation_p.Q135R|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	135	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.Q135R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCCAACCTCTGTGGAGAGAG	0.567																																						uc001fre.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(403-405)CAG>CGG		Fc receptor-like 2 precursor							61.0	66.0	64.0					1																	157739847		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739847T>C	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.404A>G	1.37:g.157739847T>C	ENSP00000355157:p.Gln135Arg					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.Q135R|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.Q135R	p.Q135R	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	463	-	all_hematologic(112;0.0378)		135			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.404A>G	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	7.392	0.630912	0.14322	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03065	4.06;4.06	4.46	0.735	0.18300	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.312480	0.01424	N	0.014497	T	0.01254	0.0041	L	0.48174	1.505	0.09310	N	1	B;B;B	0.24618	0.049;0.005;0.107	B;B;B	0.33254	0.16;0.033;0.151	T	0.46925	-0.9156	10	0.10902	T	0.67	.	3.8985	0.09150	0.0:0.1976:0.1837:0.6187	.	135;135;135	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	R	135	ENSP00000355157:Q135R;ENSP00000376100:Q135R	ENSP00000355157:Q135R	Q	-	2	0	FCRL2	156006471	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.187000	0.16998	0.015000	0.14971	-1.475000	0.01000	CAG		PASS	0.567	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		32	82	32	82	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160147346	160147346	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:160147346T>C	ENST00000368081.4	+	18	3099	c.2628T>C	c.(2626-2628)ttT>ttC	p.F876F	ATP1A4_ENST00000470705.1_Silent_p.F12F|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	876					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F876F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTACCTACTTTGTAATCCTGG	0.522																																						uc001fve.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2626-2628)TTT>TTC		Na+/K+ -ATPase alpha 4 subunit isoform 1							147.0	136.0	140.0					1																	160147346		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160147346T>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2628T>C	1.37:g.160147346T>C						ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.F379F|ATP1A4_uc001fvh.2_Silent_p.F12F	p.F876F	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		18	3107	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		876			Extracellular (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2628T>C	CCDS1197.1																																																																																				PASS	0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		38	117	38	117	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171510562	171510562	+	Silent	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:171510562G>C	ENST00000338920.4	+	16	4188	c.3951G>C	c.(3949-3951)ctG>ctC	p.L1317L	PRRC2C_ENST00000367742.3_Silent_p.L1319L|PRRC2C_ENST00000392078.3_Silent_p.L1319L|PRRC2C_ENST00000426496.2_Silent_p.L1317L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1317					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L1319L(2)									ATAATAGACTGCTAGAAAAGC	0.433																																						uc010pmg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(3949-3951)CTG>CTC		HBxAg transactivated protein 2							45.0	45.0	45.0					1																	171510562		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171510562G>C	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3951G>C	1.37:g.171510562G>C						BAT2L2_uc010pmh.1_Silent_p.L294L	p.L1317L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	4217	+			1317					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3951G>C	CCDS1296.2																																																																																				PASS	0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		27	57	27	57	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175049351	175049351	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:175049351G>T	ENST00000239462.4	+	4	950	c.837G>T	c.(835-837)ctG>ctT	p.L279L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	279	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.L279L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCTCTGCTGGTGAGCTGGG	0.617																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(835-837)CTG>CTT		tenascin N precursor							53.0	54.0	54.0					1																	175049351		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049351G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.837G>T	1.37:g.175049351G>T						TNN_uc010pmx.1_Silent_p.L279L	p.L279L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	950	+		Breast(1374;0.000962)	279			Fibronectin type-III 1.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.837G>T	CCDS30943.1																																																																																				PASS	0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		34	76	34	76	---	---	---	---
RALGPS2	55103	broad.mit.edu	37	1	178885490	178885490	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:178885490A>G	ENST00000367635.3	+	20	2086	c.1748A>G	c.(1747-1749)gAg>gGg	p.E583G	RALGPS2_ENST00000367634.2_Missense_Mutation_p.E557G	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	583	Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E583G(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						ATGACTTTTGAGTAGAAGCCT	0.363																																						uc001glz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GAG>GGG		Ral GEF with PH domain and SH3 binding motif 2							41.0	42.0	42.0					1																	178885490		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178885490A>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.1748A>G	1.37:g.178885490A>G	ENSP00000356607:p.Glu583Gly					RALGPS2_uc010pnb.1_Missense_Mutation_p.E557G	p.E583G	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			20	2086	+			583			Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1748A>G	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712541	0.89112	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.35236	1.41;1.41;1.32	5.58	5.58	0.84498	.	0.111498	0.64402	D	0.000013	T	0.59418	0.2192	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.954;0.999	T	0.62868	-0.6763	10	0.87932	D	0	.	15.7052	0.77573	1.0:0.0:0.0:0.0	.	557;583	B7Z7B1;Q86X27	.;RGPS2_HUMAN	G	583;557;548;232	ENSP00000356607:E583G;ENSP00000356606:E557G;ENSP00000313613:E548G	ENSP00000313613:E548G	E	+	2	0	RALGPS2	177152113	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.331000	0.72929	2.250000	0.74265	0.482000	0.46254	GAG		PASS	0.363	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		14	62	14	62	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180775220	180775220	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:180775220G>T	ENST00000367590.4	+	5	668	c.470G>T	c.(469-471)cGa>cTa	p.R157L	XPR1_ENST00000367589.3_Missense_Mutation_p.R157L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	157	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R157Q(2)|p.R157L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACAGGGTTTCGAAAAATCCTG	0.378																																						uc001goi.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(469-471)CGA>CTA		xenotropic and polytropic retrovirus receptor							52.0	54.0	53.0					1																	180775220		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775220G>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.470G>T	1.37:g.180775220G>T	ENSP00000356562:p.Arg157Leu					XPR1_uc009wxm.2_Missense_Mutation_p.R157L|XPR1_uc009wxn.2_Missense_Mutation_p.R157L	p.R157L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			5	662	+			157			SPX.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.470G>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703983	0.88924	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.51574	0.7	5.42	4.5	0.54988	SPX, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.74648	-0.3595	10	0.87932	D	0	-5.5262	13.8971	0.63778	0.0745:0.0:0.9255:0.0	.	157;157	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	L	157	ENSP00000356562:R157L	ENSP00000356561:R157L	R	+	2	0	XPR1	179041843	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.338000	0.96553	1.294000	0.44707	0.484000	0.47621	CGA		PASS	0.378	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		34	89	34	89	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549812	181549812	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:181549812G>T	ENST00000367573.2	+	6	851	c.851G>T	c.(850-852)gGc>gTc	p.G284V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G235V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G284V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G284V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G235V|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G284V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	284					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.G284V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACTGGATCGGCCCCAATGAT	0.517																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(850-852)GGC>GTC		calcium channel, voltage-dependent, R type,							168.0	168.0	168.0					1																	181549812		2036	4186	6222	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549812G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.851G>T	1.37:g.181549812G>T	ENSP00000356545:p.Gly284Val					CACNA1E_uc009wxr.2_Missense_Mutation_p.G191V|CACNA1E_uc009wxs.2_Missense_Mutation_p.G191V	p.G284V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			6	1016	+			284			I.|Extracellular (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.851G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549387	0.86127	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.97	4.97	0.65823	.	0.205921	0.50627	D	0.000106	D	0.99004	0.9660	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99827	1.1051	10	0.87932	D	0	.	17.8239	0.88658	0.0:0.0:1.0:0.0	.	284;284	Q15878-2;Q15878-3	.;.	V	284;284;284;235;235;284;284	ENSP00000432038:G284V;ENSP00000356542:G284V;ENSP00000434814:G284V;ENSP00000350183:G235V;ENSP00000351101:G235V;ENSP00000353222:G284V;ENSP00000356545:G284V	ENSP00000350183:G235V	G	+	2	0	CACNA1E	179816435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.314000	0.78098	0.561000	0.74099	GGC		PASS	0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		79	191	79	191	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201036078	201036078	+	Missense_Mutation	SNP	C	C	T	rs545411173		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:201036078C>T	ENST00000362061.3	-	20	2820	c.2594G>A	c.(2593-2595)cGc>cAc	p.R865H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R865H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	865					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R865H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGTAATTGCGGCAGAAGGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19934	0.0		0.0	False		,,,				2504	0.001					uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2593-2595)CGC>CAC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						117.0	92.0	101.0					1																	201036078		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201036078C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2594G>A	1.37:g.201036078C>T	ENSP00000355192:p.Arg865His						p.R865H	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			20	2821	-			865			III.|Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2594G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385453	0.82792	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98901	-5.22;-5.22	3.81	2.89	0.33648	Ion transport (1);	0.064020	0.64402	U	0.000010	D	0.99315	0.9760	H	0.97659	4.05	0.45439	D	0.998412	D	0.55605	0.972	D	0.64144	0.922	D	0.99004	1.0812	10	0.87932	D	0	.	11.6299	0.51168	0.0:0.9101:0.0:0.0899	.	865	Q13698	CAC1S_HUMAN	H	865	ENSP00000355192:R865H;ENSP00000356307:R865H	ENSP00000355192:R865H	R	-	2	0	CACNA1S	199302701	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.749000	0.85096	0.706000	0.31912	0.549000	0.68633	CGC		PASS	0.602	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	48	13	48	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216073560	216073560	+	Splice_Site	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:216073560C>T	ENST00000307340.3	-	40	7838		c.e40-1		USH2A_ENST00000366943.2_Splice_Site|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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.?(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)		GGAAAATAACCTGTATGGGAA	0.348										HNSCC(13;0.011)																												uc001hku.1																			1	Unknown(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.e40-1		usherin isoform B							83.0	75.0	78.0					1																	216073560		2203	4300	6503	SO:0001630	splice_region_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.chr1:216073560C>T	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.7452-1G>A	1.37:g.216073560C>T		HNSCC(13;0.011)					p.E2484_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	40	7839	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.7452_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795810	0.50208	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214140183	1.000000	0.71417	0.999000	0.59377	0.330000	0.28571	4.390000	0.59646	2.871000	0.98454	0.655000	0.94253	.		PASS	0.348	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	44	104	44	104	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216143994	216143994	+	Silent	SNP	C	C	T	rs146406377		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:216143994C>T	ENST00000307340.3	-	36	7316	c.6930G>A	c.(6928-6930)acG>acA	p.T2310T	USH2A_ENST00000366943.2_Silent_p.T2310T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2310	Fibronectin type-III 9. {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.T2310T(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)		AACCTTTGGCCGTGCATGCTT	0.408										HNSCC(13;0.011)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.0					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.(6928-6930)ACG>ACA		usherin isoform B		C		4,4402	8.1+/-20.4	0,4,2199	91.0	86.0	88.0		6930	-11.6	0.0	1	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		2310/5203	216143994	4,13002	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.chr1:216143994C>T	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.6930G>A	1.37:g.216143994C>T		HNSCC(13;0.011)					p.T2310T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7317	-			2310			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6930G>A	CCDS31025.1																																																																																				PASS	0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		47	136	47	136	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228471378	228471378	+	Missense_Mutation	SNP	G	G	C	rs202236984		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:228471378G>C	ENST00000422127.1	+	33	8956	c.8912G>C	c.(8911-8913)cGg>cCg	p.R2971P	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2971P|OBSCN_ENST00000366709.4_Missense_Mutation_p.R90P|OBSCN_ENST00000366707.4_Missense_Mutation_p.R90P|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1818P|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3400P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2971	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R3254P(1)|p.R3025P(1)|p.R2971P(1)|p.R3155P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGACCCTGCGGCTCACCATC	0.672																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8911-8913)CGG>CCG		obscurin, cytoskeletal calmodulin and							36.0	43.0	41.0					1																	228471378		2125	4238	6363	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471378G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8912G>C	1.37:g.228471378G>C	ENSP00000409493:p.Arg2971Pro					OBSCN_uc001hsn.2_Missense_Mutation_p.R2971P|OBSCN_uc001hsp.1_Missense_Mutation_p.R670P|OBSCN_uc001hsq.1_Missense_Mutation_p.R227P	p.R2971P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			33	8956	+		Prostate(94;0.0405)	2971			Ig-like 29.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8912G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	14.67	2.603573	0.46423	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.67	-8.27	0.01017	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.006310	0.07995	N	0.987811	T	0.68815	0.3042	M	0.84683	2.71	0.09310	N	1	P;P;P	0.50710	0.938;0.467;0.914	P;B;P	0.49502	0.613;0.223;0.548	T	0.64533	-0.6385	10	0.31617	T	0.26	.	8.9593	0.35838	0.4804:0.2426:0.277:0.0	.	2971;2971;2971	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	P	2971;2971;90;90;1818;670;377	ENSP00000284548:R2971P;ENSP00000409493:R2971P;ENSP00000355668:R90P;ENSP00000355670:R90P;ENSP00000352613:R1818P	ENSP00000284548:R2971P	R	+	2	0	OBSCN	226538001	0.006000	0.16342	0.006000	0.13384	0.020000	0.10135	-0.126000	0.10563	-1.612000	0.01579	-1.194000	0.01681	CGG		PASS	0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		25	40	25	40	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228480222	228480222	+	Splice_Site	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:228480222A>T	ENST00000422127.1	+	40	10647		c.e40-1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000359599.6_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.?(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCTTCCCAGCTCTGCCTG	0.572																																						uc009xez.1																			4	Unknown(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.e40-2		obscurin, cytoskeletal calmodulin and							59.0	60.0	60.0					1																	228480222		1984	4172	6156	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228480222A>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10604-1A>T	1.37:g.228480222A>T						OBSCN_uc001hsn.2_Splice_Site_p.A3535_splice|OBSCN_uc001hsq.1_Splice_Site_p.A791_splice	p.A3535_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			40	10648	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.10604_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242517	0.39598	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3089	0.74016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226546845	1.000000	0.71417	0.814000	0.32528	0.103000	0.19146	7.134000	0.77268	2.006000	0.58801	0.496000	0.49642	.		PASS	0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	33	94	33	94	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241099992	241099992	+	Silent	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:241099992A>G	ENST00000407727.1	-	4	240	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L	RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Silent_p.L81L|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Silent_p.L81L|RGS7_ENST00000366564.1_Silent_p.L81L|RGS7_ENST00000366565.1_Silent_p.L81L|RGS7_ENST00000331110.7_Silent_p.L55L|RGS7_ENST00000348120.2_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	81	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L81L(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATGTTCCCAAATGGAGCGCC	0.383																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(241-243)TTG>CTG		regulator of G-protein signaling 7							72.0	79.0	77.0					1																	241099992		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099992A>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.241T>C	1.37:g.241099992A>G						RGS7_uc010pyh.1_Silent_p.L55L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L81L|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.L81L	p.L81L	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	571	-		all_cancers(173;0.0131)	81			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.241T>C																																																																																					PASS	0.383	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		30	66	30	66	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112521	248112521	+	Missense_Mutation	SNP	G	G	T	rs148005952	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:248112521G>T	ENST00000357191.3	+	1	362	c.362G>T	c.(361-363)cGt>cTt	p.R121L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			GCCTATGATCGTTACATTGCT	0.443																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)CGT>CTT		olfactory receptor, family 2, subfamily L,							306.0	260.0	275.0					1																	248112521		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112521G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.362G>T	1.37:g.248112521G>T	ENSP00000349719:p.Arg121Leu					OR2L13_uc001ids.2_Intron	p.R121L	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	362	+	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)		121			Cytoplasmic (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.362G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.294400	0.40594	.	.	ENSG00000196936	ENST00000357191	T	0.77358	-1.09	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	U	0.355267	D	0.84875	0.5569	H	0.97340	3.985	0.37919	D	0.931628	B	0.25441	0.126	B	0.28232	0.087	D	0.86502	0.1804	10	0.72032	D	0.01	.	11.1275	0.48328	0.0:0.0:1.0:0.0	.	121	Q8NGY9	OR2L8_HUMAN	L	121	ENSP00000349719:R121L	ENSP00000349719:R121L	R	+	2	0	OR2L8	246179144	0.928000	0.31464	0.048000	0.18961	0.037000	0.13140	5.493000	0.66899	0.905000	0.36596	0.479000	0.44913	CGT		PASS	0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			122	334	122	334	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129478	248129478	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:248129478C>G	ENST00000366480.3	+	1	944	c.845C>G	c.(844-846)tCc>tGc	p.S282C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S282C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			TCCTTGCGTTCCCCTTCACGG	0.498																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(844-846)TCC>TGC		olfactory receptor, family 2, subfamily AK,							160.0	125.0	137.0					1																	248129478		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129478C>G	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.845C>G	1.37:g.248129478C>G	ENSP00000355436:p.Ser282Cys					OR2L13_uc001ids.2_Intron	p.S282C	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	845	+	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)		282			Extracellular (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.845C>G	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702892	0.30232	.	.	ENSG00000187080	ENST00000366480	T	0.00279	8.33	3.04	0.934	0.19477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	M	0.91196	3.185	0.09310	N	1	D	0.71674	0.998	D	0.68192	0.956	T	0.47661	-0.9100	9	0.87932	D	0	.	3.3083	0.07007	0.3525:0.4332:0.0:0.2143	.	282	Q8NG84	O2AK2_HUMAN	C	282	ENSP00000355436:S282C	ENSP00000355436:S282C	S	+	2	0	OR2AK2	246196101	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.363000	0.20301	0.088000	0.17205	0.462000	0.41574	TCC		PASS	0.498	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		46	108	46	108	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343459	248343459	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:248343459C>A	ENST00000359682.2	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCCACACCCCCATGTACTT	0.537																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(172-174)CCC>ACC		olfactory receptor, family 2, subfamily M,							312.0	297.0	302.0					1																	248343459		2203	4298	6501	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343459C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.172C>A	1.37:g.248343459C>A	ENSP00000352710:p.Pro58Thr						p.P58T	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	172	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		58			Helical; Name=2; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.172C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.485851	0.26686	.	.	ENSG00000198601	ENST00000359682	T	0.02032	4.49	2.03	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.286229	0.18764	U	0.131781	T	0.09423	0.0232	H	0.98646	4.29	0.24492	N	0.994292	P	0.39847	0.691	B	0.40228	0.323	T	0.08452	-1.0721	10	0.87932	D	0	.	8.0516	0.30581	0.0:0.8656:0.0:0.1344	.	58	Q96R28	OR2M2_HUMAN	T	58	ENSP00000352710:P58T	ENSP00000352710:P58T	P	+	1	0	OR2M2	246410082	0.388000	0.25197	0.097000	0.21041	0.169000	0.22640	1.563000	0.36364	0.203000	0.20529	0.454000	0.30748	CCC		PASS	0.537	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		203	478	203	478	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1161234	1161234	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:1161234G>T	ENST00000308624.5	+	7	541	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	138	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.V138L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATATTGACAGGTGCATCTGCT	0.428																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(412-414)GTG>TTG		syntrophin, gamma 2							87.0	82.0	83.0					2																	1161234		1880	4128	6008	SO:0001630	splice_region_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1161234G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.412-1G>T	2.37:g.1161234G>T						SNTG2_uc010ewi.2_Intron	p.V138L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	7	540	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	138			PDZ.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.412G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079058	0.55753	.	.	ENSG00000172554	ENST00000308624	T	0.35973	1.28	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.63169	1.94	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.56438	-0.7979	9	.	.	.	.	15.279	0.73767	0.0:0.0:1.0:0.0	.	138	Q9NY99	SNTG2_HUMAN	L	138	ENSP00000311837:V138L	.	V	+	1	0	SNTG2	1151234	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.252000	0.72447	2.112000	0.64535	0.579000	0.79373	GTG		PASS	0.428	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	Missense_Mutation	22	61	22	61	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20494185	20494185	+	Missense_Mutation	SNP	G	G	T	rs556124794		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:20494185G>T	ENST00000361078.2	-	8	1126	c.1104C>A	c.(1102-1104)aaC>aaA	p.N368K	PUM2_ENST00000536417.1_Missense_Mutation_p.N312K|PUM2_ENST00000319801.5_Missense_Mutation_p.N368K|PUM2_ENST00000338086.5_Missense_Mutation_p.N368K|PUM2_ENST00000403432.1_Missense_Mutation_p.N368K			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	368	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.N368K(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGGCTGTGTTATTTGCCG	0.483																																						uc002rds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1102-1104)AAC>AAA		pumilio homolog 2							115.0	109.0	111.0					2																	20494185		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20494185G>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1104C>A	2.37:g.20494185G>T	ENSP00000354370:p.Asn368Lys					PUM2_uc002rdt.1_Missense_Mutation_p.N368K|PUM2_uc002rdr.2_Missense_Mutation_p.N307K|PUM2_uc010yjy.1_Missense_Mutation_p.N368K|PUM2_uc002rdu.1_Missense_Mutation_p.N368K|PUM2_uc010yjz.1_Missense_Mutation_p.N307K	p.N368K	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			8	1127	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		368			Ala-rich.|Gln-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1104C>A		.	.	.	.	.	.	.	.	.	.	G	11.22	1.573355	0.28092	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.17054	2.3;2.56;2.58;2.3;2.3;2.3	5.81	2.02	0.26589	.	0.421858	0.30732	N	0.009000	T	0.12263	0.0298	L	0.32530	0.975	0.26318	N	0.977717	B;B;B	0.29136	0.017;0.002;0.234	B;B;B	0.31290	0.027;0.012;0.127	T	0.25745	-1.0123	10	0.19590	T	0.45	-8.2086	10.6656	0.45728	0.2513:0.0:0.7487:0.0	.	312;368;368	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	K	368;368;368;259;368;312	ENSP00000338173:N368K;ENSP00000354370:N368K;ENSP00000326746:N368K;ENSP00000409905:N259K;ENSP00000385992:N368K;ENSP00000440093:N312K	ENSP00000326746:N368K	N	-	3	2	PUM2	20357666	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.222000	0.58580	0.811000	0.34303	0.557000	0.71058	AAC		PASS	0.483	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		23	122	23	122	---	---	---	---
CCDC121	79635	broad.mit.edu	37	2	27849963	27849963	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:27849963C>A	ENST00000324364.3	-	2	884	c.704G>T	c.(703-705)tGg>tTg	p.W235L	GPN1_ENST00000458167.2_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.W397L|GPN1_ENST00000264718.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	235								p.W235L(2)|p.W397L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTCCAGATACCACTGTTCCTG	0.478																																						uc002rle.2																			4	Substitution - Missense(4)		lung(4)		0						c.(703-705)TGG>TTG		coiled-coil domain containing 121 isoform 3							86.0	82.0	84.0					2																	27849963		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27849963C>A	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.704G>T	2.37:g.27849963C>A	ENSP00000339087:p.Trp235Leu					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.W399L|CCDC121_uc002rld.2_Missense_Mutation_p.W397L|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.W235L	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	885	-	Acute lymphoblastic leukemia(172;0.155)		235			Potential.		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.704G>T	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534940	0.64972	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.32515	1.45;1.45	5.47	4.57	0.56435	.	0.758769	0.12139	N	0.496011	T	0.37293	0.0998	M	0.66939	2.045	0.31950	N	0.609855	P	0.40180	0.705	B	0.41036	0.346	T	0.49624	-0.8920	10	0.66056	D	0.02	-12.3663	11.4076	0.49906	0.181:0.819:0.0:0.0	.	235	Q6ZUS5	CC121_HUMAN	L	235;397	ENSP00000339087:W235L;ENSP00000412150:W397L	ENSP00000339087:W235L	W	-	2	0	CCDC121	27703467	0.998000	0.40836	0.955000	0.39395	0.829000	0.46940	3.286000	0.51724	1.246000	0.43901	0.591000	0.81541	TGG		PASS	0.478	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		4	167	4	167	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32667235	32667235	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:32667235G>C	ENST00000421745.2	+	18	4181	c.4047G>C	c.(4045-4047)caG>caC	p.Q1349H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1349					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1321H(1)|p.Q1349H(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AACATGCCCAGAGCCTTGTGT	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4045-4047)CAG>CAC		baculoviral IAP repeat-containing 6							67.0	67.0	67.0					2																	32667235		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667235G>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4047G>C	2.37:g.32667235G>C	ENSP00000393596:p.Gln1349His						p.Q1349H	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			18	4181	+	Acute lymphoblastic leukemia(172;0.155)		1349					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4047G>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063915	0.76187	.	.	ENSG00000115760	ENST00000421745	T	0.77750	-1.12	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000001	D	0.85826	0.5787	M	0.65975	2.015	0.54753	D	0.99998	D	0.57571	0.98	D	0.69654	0.965	D	0.87223	0.2255	10	0.87932	D	0	.	13.9501	0.64111	0.0729:0.0:0.927:0.0	.	1349	Q9NR09	BIRC6_HUMAN	H	1349	ENSP00000393596:Q1349H	ENSP00000393596:Q1349H	Q	+	3	2	BIRC6	32520739	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.590000	0.53979	1.269000	0.44280	0.637000	0.83480	CAG		PASS	0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		82	82	82	82	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746750	77746750	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:77746750G>A	ENST00000409093.1	-	3	581	c.245C>T	c.(244-246)gCc>gTc	p.A82V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A82V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A83V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A83V|LRRTM4_ENST00000409088.3_Missense_Mutation_p.A82V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	82					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A82V(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTAAGGCCGGCAAACTGATT	0.403																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(244-246)GCC>GTC		leucine rich repeat transmembrane neuronal 4							129.0	122.0	124.0					2																	77746750		1907	4116	6023	SO:0001583	missense	80059					integral to membrane		g.chr2:77746750G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.245C>T	2.37:g.77746750G>A	ENSP00000386357:p.Ala82Val					LRRTM4_uc002snq.2_Missense_Mutation_p.A82V|LRRTM4_uc002sns.2_Missense_Mutation_p.A82V|LRRTM4_uc002snt.2_Missense_Mutation_p.A83V	p.A82V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	660	-			82			LRR 1.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.245C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697389	0.48202	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.72	5.72	0.89469	.	0.053496	0.85682	D	0.000000	T	0.46112	0.1376	L	0.35593	1.075	0.51233	D	0.999918	B;B;B	0.20988	0.05;0.041;0.05	B;B;B	0.24541	0.054;0.032;0.054	T	0.25641	-1.0126	10	0.31617	T	0.26	.	18.4391	0.90658	0.0:0.0:1.0:0.0	.	83;82;82	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	83;82;82;82;83	ENSP00000387228:A83V;ENSP00000387297:A82V;ENSP00000386357:A82V;ENSP00000386236:A82V;ENSP00000386286:A83V	ENSP00000386236:A82V	A	-	2	0	LRRTM4	77600258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.820000	0.62671	2.711000	0.92665	0.655000	0.94253	GCC		PASS	0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	167	4	167	---	---	---	---
IGKV1-8	28942	broad.mit.edu	37	2	89292050	89292050	+	RNA	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:89292050G>C	ENST00000495489.1	-	0	275									immunoglobulin kappa variable 1-8																		ACCCCACTTTGCAAAGTGGAT	0.493																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							132.0	128.0	129.0					2																	89292050		1860	4082	5942			0							g.chr2:89292050G>C	Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292050G>C						uc002stl.2_Intron								82		-									RNA	SNP	ENST00000495489.1	37	c.7156C>G																																																																																					PASS	0.493	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323358.1	NG_000834		108	190	108	190	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99185132	99185132	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:99185132G>T	ENST00000523221.1	+	21	2533		c.e21+1		INPP4A_ENST00000545415.1_Splice_Site|INPP4A_ENST00000074304.5_Splice_Site|INPP4A_ENST00000409463.1_Splice_Site|INPP4A_ENST00000409851.3_Splice_Site|INPP4A_ENST00000409540.3_Splice_Site|INPP4A_ENST00000409016.4_Splice_Site|INPP4A_ENST00000467042.1_Splice_Site			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.?(3)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCTGAGGATTGTAAGTATTTC	0.433																																						uc002syy.2																			3	Unknown(3)		lung(3)	kidney(1)	1						c.e23+1		inositol polyphosphate-4-phosphatase, type 1							116.0	110.0	112.0					2																	99185132		1932	4142	6074	SO:0001630	splice_region_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99185132G>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2533+1G>T	2.37:g.99185132G>T						INPP4A_uc010yvj.1_Splice_Site_p.C806_splice|INPP4A_uc010yvk.1_Splice_Site_p.C806_splice|INPP4A_uc002syx.2_Splice_Site_p.C840_splice|INPP4A_uc010fik.2_Splice_Site_p.C174_splice	p.C845_splice	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			23	2926	+								O15326|Q13187|Q53TD8|Q8TC02	Splice_Site	SNP	ENST00000523221.1	37	c.2533_splice	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194995	0.78902	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.992	0.86356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP4A	98551564	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.657000	0.98554	2.496000	0.84212	0.561000	0.74099	.		PASS	0.433	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	Intron	3	18	3	18	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103068286	103068286	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:103068286G>A	ENST00000264260.2	+	12	2034	c.1445G>A	c.(1444-1446)aGc>aAc	p.S482N	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S340N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	482	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S482N(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTTATCTTGAGCCCCAACTAT	0.348																																						uc002tbx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1444-1446)AGC>AAC		interleukin 18 receptor accessory protein							133.0	136.0	135.0					2																	103068286		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068286G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1445G>A	2.37:g.103068286G>A	ENSP00000264260:p.Ser482Asn					IL18RAP_uc010fiz.2_Missense_Mutation_p.S340N	p.S482N	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	1929	+			482			TIR.|Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1445G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785952	0.70337	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.11495	2.77;2.77	6.02	5.13	0.70059	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.064967	0.64402	D	0.000004	T	0.41442	0.1159	M	0.90252	3.1	0.34996	D	0.755477	D	0.89917	1.0	D	0.97110	1.0	T	0.64483	-0.6397	10	0.62326	D	0.03	.	15.6774	0.77338	0.0:0.2586:0.7414:0.0	.	482	O95256	I18RA_HUMAN	N	482;340	ENSP00000264260:S482N;ENSP00000387201:S340N	ENSP00000264260:S482N	S	+	2	0	IL18RAP	102434718	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	3.277000	0.51654	1.531000	0.49152	0.650000	0.86243	AGC		PASS	0.348	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		62	207	62	207	---	---	---	---
SULT1C2	6819	broad.mit.edu	37	2	108921151	108921151	+	Missense_Mutation	SNP	G	G	A	rs547819243		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:108921151G>A	ENST00000437390.2	+	5	716	c.539G>A	c.(538-540)gGa>gAa	p.G180E	SULT1C2_ENST00000251481.6_Missense_Mutation_p.G166E|SULT1C2_ENST00000409880.1_Missense_Mutation_p.G129E|SULT1C2_ENST00000326853.5_Missense_Mutation_p.G177E			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	172					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.G177E(1)|p.G166E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTCATCAATGGAAAAGGTACG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		22961	0.0		0.0	False		,,,				2504	0.001					uc002tdy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(496-498)GGA>GAA		sulfotransferase family, cytosolic, 1C, member 1							129.0	117.0	121.0					2																	108921151		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921151G>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.539G>A	2.37:g.108921151G>A	ENSP00000399651:p.Gly180Glu					SULT1C2_uc010ywp.1_Missense_Mutation_p.G81E|SULT1C2_uc002tdx.2_Missense_Mutation_p.G177E|SULT1C2_uc010ywq.1_Missense_Mutation_p.G180E	p.G166E	NM_001056	NP_001047	O00338	ST1C2_HUMAN			5	950	+			166					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.497G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.688268|4.688268	0.88639|0.88639	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390|ENST00000409067	T;T;T;T|.	0.02158|.	4.42;4.42;4.42;4.42|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Sulfotransferase domain (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|.	0.86326|.	0.5906|.	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|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;0.999;0.999|.	D|.	0.90000|.	0.4114|.	10|.	0.87932|.	D|.	0|.	.|.	17.1001|17.1001	0.86647|0.86647	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;81;166;177|.	B4DLP0;B4DPE8;O00338;O00338-2|.	.;.;ST1C2_HUMAN;.|.	E|X	166;177;129;180|162	ENSP00000251481:G166E;ENSP00000319622:G177E;ENSP00000387054:G129E;ENSP00000399651:G180E|.	ENSP00000251481:G166E|.	G|W	+|+	2|3	0|0	SULT1C2|SULT1C2	108287583|108287583	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.843000|0.843000	0.47879|0.47879	8.896000|8.896000	0.92521|0.92521	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.478	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		61	154	61	154	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112550114	112550114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:112550114C>A	ENST00000341068.3	-	38	5309	c.4537G>T	c.(4537-4539)Gaa>Taa	p.E1513*		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1513					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E1513*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGACAAGTTTCTAGGTTATGA	0.438																																						uc002thi.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(4537-4539)GAA>TAA		anaphase promoting complex subunit 1							59.0	54.0	56.0					2																	112550114		2201	4297	6498	SO:0001587	stop_gained	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112550114C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4537G>T	2.37:g.112550114C>A	ENSP00000339109:p.Glu1513*						p.E1513*	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			38	4784	-			1513					Q2M3H8|Q9BSE6|Q9H8D0	Nonsense_Mutation	SNP	ENST00000341068.3	37	c.4537G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.562404|15.562404	0.99838|0.99838	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.34959|.	U|.	0.003554|.	.|T	.|0.73426	.|0.3585	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75059	.|-0.3451	.|3	0.32370|.	T|.	0.25|.	-15.0152|-15.0152	17.698|17.698	0.88286|0.88286	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1513|1047	.|.	ENSP00000339109:E1513X|.	E|R	-|-	1|2	0|0	ANAPC1|ANAPC1	112266585|112266585	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.867000|0.867000	0.49689|0.49689	6.082000|6.082000	0.71318|0.71318	2.237000|2.237000	0.73441|0.73441	0.585000|0.585000	0.79938|0.79938	GAA|AGA		PASS	0.438	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		42	97	42	97	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119727695	119727695	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:119727695A>C	ENST00000327097.4	+	3	340	c.205A>C	c.(205-207)Aat>Cat	p.N69H	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	69					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.N69H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCAGTTCTGAATCTGCAGGC	0.552																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(205-207)AAT>CAT		macrophage receptor with collagenous structure							59.0	69.0	65.0					2																	119727695		2202	4300	6502	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119727695A>C	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.205A>C	2.37:g.119727695A>C	ENSP00000318916:p.Asn69His					MARCO_uc010yyf.1_5'UTR	p.N69H	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			3	337	+			69			Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.205A>C	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.520158	0.27211	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.90069	-2.61	4.43	3.24	0.37175	.	0.530450	0.18448	N	0.140927	D	0.87188	0.6115	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.58660	0.843	D	0.83545	0.0098	9	.	.	.	.	8.0617	0.30638	0.7939:0.2061:0.0:0.0	.	69	Q9UEW3	MARCO_HUMAN	H	69	ENSP00000318916:N69H	.	N	+	1	0	MARCO	119444165	0.029000	0.19370	0.976000	0.42696	0.947000	0.59692	0.425000	0.21346	0.999000	0.39023	0.459000	0.35465	AAT		PASS	0.552	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		31	82	31	82	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128030447	128030447	+	Silent	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:128030447T>A	ENST00000285398.2	-	11	1915	c.1821A>T	c.(1819-1821)atA>atT	p.I607I	ERCC3_ENST00000493187.2_Silent_p.I543I	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	607	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.I607I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAACCTTGGATATGAAGATGG	0.488			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1819-1821)ATA>ATT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							165.0	147.0	153.0					2																	128030447		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128030447T>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1821A>T	2.37:g.128030447T>A						ERCC3_uc002toe.1_Silent_p.I362I|ERCC3_uc002tof.1_Silent_p.I543I|ERCC3_uc002tog.1_Silent_p.I543I	p.I607I	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	11	1916	-	Colorectal(110;0.1)		607			Helicase C-terminal.		Q53QM0	Silent	SNP	ENST00000285398.2	37	c.1821A>T	CCDS2144.1																																																																																				PASS	0.488	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		19	105	19	105	---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131796570	131796570	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:131796570G>T	ENST00000326016.5	+	6	1231	c.712G>T	c.(712-714)Gat>Tat	p.D238Y	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D238Y|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.D238Y|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D167Y|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D238Y	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	238	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D238Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGGGTCGCCGATGGCGAGGG	0.592																																						uc002tsa.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(712-714)GAT>TAT		Rho guanine nucleotide exchange factor 4 isoform							57.0	51.0	53.0					2																	131796570		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131796570G>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.712G>T	2.37:g.131796570G>T	ENSP00000316845:p.Asp238Tyr					ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D238Y|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D238Y|ARHGEF4_uc002tsc.1_5'Flank	p.D238Y	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	6	1232	+		Prostate(154;0.055)	238			SH3.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.712G>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485509	0.63962	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.57	4.57	0.56435	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.79011	2.435	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.99;0.996	T	0.74352	-0.3693	10	0.87932	D	0	.	15.1989	0.73120	0.0:0.0:1.0:0.0	.	238;238;238	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	Y	238;238;238;238;167	ENSP00000316845:D238Y;ENSP00000376680:D238Y;ENSP00000432267:D238Y;ENSP00000387285:D238Y;ENSP00000348017:D167Y	ENSP00000316845:D238Y	D	+	1	0	ARHGEF4	131513040	1.000000	0.71417	0.011000	0.14972	0.336000	0.28762	9.053000	0.93860	2.248000	0.74166	0.563000	0.77884	GAT		PASS	0.592	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			14	39	14	39	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135744462	135744462	+	Silent	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:135744462A>T	ENST00000375845.3	-	7	2010	c.1980T>A	c.(1978-1980)ccT>ccA	p.P660P	MAP3K19_ENST00000358371.4_Silent_p.P547P|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.P677P|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	660							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P660P(1)|p.P12P(1)									CATAGATTCCAGGTCCATTAG	0.408																																						uc002tue.1																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1978-1980)CCT>CCA		Yeast Sps1/Ste20-related kinase 4 isoform 1							142.0	141.0	141.0					2																	135744462		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744462A>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1980T>A	2.37:g.135744462A>T						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.P547P|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.P388P|YSK4_uc002tui.3_Silent_p.P677P	p.P660P	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	2011	-			660					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1980T>A	CCDS2176.2																																																																																				PASS	0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		100	286	100	286	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141598639	141598639	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:141598639T>C	ENST00000389484.3	-	30	5933	c.4962A>G	c.(4960-4962)ctA>ctG	p.L1654L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1654					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.L1654L(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)		AATCCACTGCTAGCCCTCTGA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(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.(4960-4962)CTA>CTG		low density lipoprotein-related protein 1B							110.0	106.0	107.0					2																	141598639		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598639T>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.4962A>G	2.37:g.141598639T>C		TSP Lung(27;0.18)					p.L1654L	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)	30	5934	-		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)	1654			Extracellular (Potential).|LDL-receptor class B 14.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4962A>G	CCDS2182.1																																																																																				PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	155	31	155	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158114977	158114977	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:158114977A>T	ENST00000259056.4	+	1	868	c.383A>T	c.(382-384)cAt>cTt	p.H128L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	128					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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.H128L(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCGTTGTGGCATCCTGCACAT	0.557																																						uc002tzg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(382-384)CAT>CTT		N-acetylgalactosaminyltransferase 5							99.0	91.0	94.0					2																	158114977		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158114977A>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.383A>T	2.37:g.158114977A>T	ENSP00000259056:p.His128Leu					GALNT5_uc010zci.1_RNA	p.H128L	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	638	+			128			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.383A>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843408	0.71488	.	.	ENSG00000136542	ENST00000259056	T	0.57436	0.4	5.51	0.3	0.15776	.	2.339960	0.01266	N	0.009336	T	0.40767	0.1130	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29181	-1.0020	10	0.66056	D	0.02	.	1.9002	0.03266	0.5534:0.1314:0.1875:0.1277	.	128	Q7Z7M9	GALT5_HUMAN	L	128	ENSP00000259056:H128L	ENSP00000259056:H128L	H	+	2	0	GALNT5	157823223	0.000000	0.05858	0.190000	0.23270	0.953000	0.61014	0.208000	0.17415	0.104000	0.17725	0.533000	0.62120	CAT		PASS	0.557	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		18	114	18	114	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166246194	166246194	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:166246194C>G	ENST00000375437.2	+	27	6168	c.5878C>G	c.(5878-5880)Cca>Gca	p.P1960A	SCN2A_ENST00000283256.6_Missense_Mutation_p.P1960A|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1960A|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1960A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1960					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P1960A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATTCAACTCCAGAGAAAAC	0.368																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(5878-5880)CCA>GCA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						61.0	60.0	60.0					2																	166246194		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246194C>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5878C>G	2.37:g.166246194C>G	ENSP00000364586:p.Pro1960Ala					SCN2A_uc002udd.2_Missense_Mutation_p.P1960A|SCN2A_uc002ude.2_Missense_Mutation_p.P1960A	p.P1960A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	6168	+			1960					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5878C>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992163	0.18966	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.73	5.73	0.89815	.	0.000000	0.45361	U	0.000375	D	0.93592	0.7954	L	0.46157	1.445	0.33940	D	0.643131	B;B	0.26809	0.015;0.16	B;B	0.31390	0.005;0.129	D	0.94960	0.8107	10	0.72032	D	0.01	.	14.6992	0.69145	0.1451:0.8549:0.0:0.0	.	1960;1960	Q99250-2;Q99250	.;SCN2A_HUMAN	A	1960	ENSP00000364586:P1960A;ENSP00000349973:P1960A;ENSP00000283256:P1960A;ENSP00000364576:P1960A	ENSP00000283256:P1960A	P	+	1	0	SCN2A	165954440	0.915000	0.31059	1.000000	0.80357	0.978000	0.69477	1.796000	0.38794	2.698000	0.92095	0.585000	0.79938	CCA		PASS	0.368	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		32	89	32	89	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848433	166848433	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:166848433G>T	ENST00000303395.4	-	26	5351	c.5352C>A	c.(5350-5352)gtC>gtA	p.V1784V	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.V1773V|SCN1A_ENST00000409050.1_Silent_p.V1756V|SCN1A_ENST00000423058.2_Silent_p.V1784V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1784					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.V1784V(1)|p.V1773V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCAGGATGACCGCGATGT	0.448																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5317-5319)GTC>GTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						119.0	117.0	118.0					2																	166848433		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848433G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5352C>A	2.37:g.166848433G>T							p.V1773V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5337	-			1784			IV.|Helical; Name=S6 of repeat IV; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5319C>A	CCDS54413.1																																																																																				PASS	0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		82	181	82	181	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168101741	168101741	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:168101741A>T	ENST00000409195.1	+	9	3928	c.3839A>T	c.(3838-3840)gAg>gTg	p.E1280V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1058V|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1280V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1105					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E1280V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTATTTTTGAGACTTTTTCT	0.353																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3838-3840)GAG>GTG		xin actin-binding repeat containing 2 isoform 1							131.0	126.0	128.0					2																	168101741		1840	4084	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101741A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3839A>T	2.37:g.168101741A>T	ENSP00000386840:p.Glu1280Val					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1105V|XIRP2_uc010fpq.2_Missense_Mutation_p.E1058V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.E1280V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3857	+			1105			Xin 21.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3839A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090091	0.55968	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.10860	2.86;2.86;2.83	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.10683	-1.0619	10	0.87932	D	0	-17.1364	15.0925	0.72207	1.0:0.0:0.0:0.0	.	1105;1105;1058	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1280;1280;1058	ENSP00000386840:E1280V;ENSP00000295237:E1280V;ENSP00000387255:E1058V	ENSP00000295237:E1280V	E	+	2	0	XIRP2	167809987	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.962000	0.93254	2.215000	0.71742	0.460000	0.39030	GAG		PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	153	24	153	---	---	---	---
DLX2	1746	broad.mit.edu	37	2	172967060	172967060	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:172967060G>T	ENST00000234198.4	-	1	568	c.207C>A	c.(205-207)aaC>aaA	p.N69K	DLX2_ENST00000466293.2_Missense_Mutation_p.N69K|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	69					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.N69K(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ggTGCTGCTGGTTGGTGTAGT	0.692																																					GBM(188;775 2993 11256 23072)	uc002uhn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)AAC>AAA		distal-less homeobox 2							18.0	20.0	19.0					2																	172967060		2187	4278	6465	SO:0001583	missense	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967060G>T	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.207C>A	2.37:g.172967060G>T	ENSP00000234198:p.Asn69Lys					DLX2_uc010zdx.1_Missense_Mutation_p.N69K	p.N69K	NM_004405	NP_004396	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	419	-			69					B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	c.207C>A	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030639	0.54790	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	D;D	0.91945	-2.65;-2.94	4.57	4.57	0.56435	.	0.159950	0.53938	D	0.000053	D	0.91185	0.7223	L	0.43152	1.355	0.58432	D	0.999994	P;P	0.48089	0.905;0.8	P;P	0.50270	0.562;0.636	D	0.89053	0.3457	10	0.18710	T	0.47	-34.2287	16.9865	0.86341	0.0:0.0:1.0:0.0	.	69;69	B7ZA14;Q07687	.;DLX2_HUMAN	K	69	ENSP00000234198:N69K;ENSP00000446904:N69K	ENSP00000234198:N69K	N	-	3	2	DLX2	172675306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.987000	0.70571	2.077000	0.62373	0.561000	0.74099	AAC		PASS	0.692	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	2	2	2	---	---	---	---
HOXD9	3235	broad.mit.edu	37	2	176987592	176987592	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:176987592G>C	ENST00000249499.6	+	1	505	c.96G>C	c.(94-96)gaG>gaC	p.E32D	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	32					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E32D(1)|p.E22D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGGGCGACGAGGTGTTCGCGG	0.682																																					GBM(47;924 952 7959 9248 12176)	uc010zex.1																			2	Substitution - Missense(2)		lung(2)		0						c.(94-96)GAG>GAC		homeobox D9							24.0	23.0	24.0					2																	176987592		2202	4299	6501	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176987592G>C		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.96G>C	2.37:g.176987592G>C	ENSP00000249499:p.Glu32Asp						p.E32D	NM_014213	NP_055028	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	180	+			32					Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.96G>C	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.785974	0.02907	.	.	ENSG00000128709	ENST00000249499	D	0.93189	-3.18	3.87	2.98	0.34508	Hox9, N-terminal activation domain (1);	15.900200	0.00589	U	0.000358	D	0.87172	0.6111	N	0.17248	0.465	0.32611	N	0.52468	B	0.24132	0.098	B	0.29077	0.098	T	0.75121	-0.3429	10	0.02654	T	1	.	9.5609	0.39369	0.1664:0.0:0.8336:0.0	.	32	P28356	HXD9_HUMAN	D	32	ENSP00000249499:E32D	ENSP00000249499:E32D	E	+	3	2	HOXD9	176695838	0.982000	0.34865	1.000000	0.80357	0.992000	0.81027	0.187000	0.16998	2.130000	0.65690	0.511000	0.50034	GAG		PASS	0.682	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			4	21	4	21	---	---	---	---
FRZB	2487	broad.mit.edu	37	2	183723523	183723523	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:183723523C>A	ENST00000295113.4	-	2	1126	c.517G>T	c.(517-519)Gca>Tca	p.A173S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	173					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A173S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348																																						uc002upa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(517-519)GCA>TCA		frizzled-related protein precursor							120.0	124.0	123.0					2																	183723523		2203	4299	6502	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183723523C>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.517G>T	2.37:g.183723523C>A	ENSP00000295113:p.Ala173Ser						p.A173S	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		2	735	-			173					O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.517G>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	6.524	0.464885	0.12402	.	.	ENSG00000162998	ENST00000295113	T	0.72282	-0.64	5.22	1.02	0.19986	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.591183	0.18946	N	0.126813	T	0.50633	0.1627	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19844	-1.0293	10	0.09084	T	0.74	.	4.1064	0.10038	0.1548:0.4472:0.0:0.398	.	173	Q92765	SFRP3_HUMAN	S	173	ENSP00000295113:A173S	ENSP00000295113:A173S	A	-	1	0	FRZB	183431768	0.000000	0.05858	0.981000	0.43875	0.995000	0.86356	-0.359000	0.07632	0.565000	0.29255	0.563000	0.77884	GCA		PASS	0.348	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		49	133	49	133	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197583269	197583269	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:197583269A>T	ENST00000389175.4	+	18	2044	c.1909A>T	c.(1909-1911)Aca>Tca	p.T637S	CCDC150_ENST00000409270.1_Missense_Mutation_p.T124S|CCDC150_ENST00000272831.7_Missense_Mutation_p.T284S	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	637								p.T637S(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTGTCCCGAACAGTGAAGTG	0.403																																						uc002utp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1909-1911)ACA>TCA		coiled-coil domain containing 150							76.0	76.0	76.0					2																	197583269		1908	4115	6023	SO:0001583	missense	284992							g.chr2:197583269A>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1909A>T	2.37:g.197583269A>T	ENSP00000373827:p.Thr637Ser					CCDC150_uc010zgs.1_Missense_Mutation_p.T284S|CCDC150_uc010zgt.1_Missense_Mutation_p.T54S|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank	p.T637S	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			18	2044	+			637			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1909A>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464206	0.26335	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.32988	1.43;1.43;1.43	4.61	3.6	0.41247	.	0.450948	0.21348	N	0.076016	T	0.13072	0.0317	N	0.08118	0	0.23050	N	0.998371	B;B;B	0.23249	0.082;0.073;0.082	B;B;B	0.28011	0.058;0.04;0.085	T	0.33163	-0.9879	10	0.08381	T	0.77	-0.1157	6.0665	0.19866	0.172:0.0:0.828:0.0	.	54;284;637	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	S	284;637;124	ENSP00000272831:T284S;ENSP00000373827:T637S;ENSP00000387257:T124S	ENSP00000272831:T284S	T	+	1	0	CCDC150	197291514	0.082000	0.21442	0.253000	0.24343	0.438000	0.31896	1.500000	0.35682	1.087000	0.41251	0.477000	0.44152	ACA		PASS	0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		14	43	14	43	---	---	---	---
CDK15	65061	broad.mit.edu	37	2	202712138	202712138	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:202712138G>T	ENST00000374598.4	+	9	886	c.886G>T	c.(886-888)Ggt>Tgt	p.G296C	CDK15_ENST00000450471.2_Missense_Mutation_p.G296C|CDK15_ENST00000434439.1_Missense_Mutation_p.G296C|CDK15_ENST00000410091.3_Missense_Mutation_p.G245C|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.G245C			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	296	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.G245C(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AATGTTCCAGGGTCAACCTTT	0.378																																						uc002uyt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(886-888)GGT>TGT		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						135.0	127.0	130.0					2																	202712138		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202712138G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.886G>T	2.37:g.202712138G>T	ENSP00000363726:p.Gly296Cys					CDK15_uc010ftm.2_Missense_Mutation_p.G161C|CDK15_uc002uys.2_Missense_Mutation_p.G245C|CDK15_uc010ftn.1_Missense_Mutation_p.G245C|CDK15_uc010fto.1_Missense_Mutation_p.G275C	p.G296C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			9	935	+			296			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.886G>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.574549	0.86542	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	6.02	6.02	0.97574	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	D	0.88058	0.6335	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89168	0.3535	10	0.87932	D	0	-12.2603	20.1358	0.98028	0.0:0.0:1.0:0.0	.	275;296;296	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	C	245;245;296;296;296	ENSP00000386901:G245C;ENSP00000260967:G245C;ENSP00000406472:G296C;ENSP00000412775:G296C;ENSP00000363726:G296C	ENSP00000260967:G245C	G	+	1	0	CDK15	202420383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.686000	0.84128	2.865000	0.98341	0.655000	0.94253	GGT		PASS	0.378	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			13	134	13	134	---	---	---	---
WDR12	55759	broad.mit.edu	37	2	203762032	203762032	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:203762032C>A	ENST00000261015.4	-	5	1194	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	WDR12_ENST00000477723.1_5'Flank	NM_018256.3	NP_060726.3			WD repeat domain 12									p.V149L(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CCTTTTTTCACCCAGGCCACA	0.438																																						uc002uzl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)GTG>TTG		WD repeat domain 12 protein							133.0	120.0	125.0					2																	203762032		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203762032C>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.445G>T	2.37:g.203762032C>A	ENSP00000261015:p.Val149Leu					WDR12_uc010ftt.2_Missense_Mutation_p.V149L	p.V149L	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			5	1195	-			149			WD 2.|Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000261015.4	37	c.445G>T	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321046	0.60634	.	.	ENSG00000138442	ENST00000261015	T	0.60040	0.22	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.31207	0.915	0.58432	D	0.999996	B;B	0.22276	0.067;0.067	B;B	0.30716	0.119;0.119	T	0.37865	-0.9687	10	0.24483	T	0.36	-11.452	13.4543	0.61189	0.0:0.9249:0.0:0.0751	.	149;149	Q53T99;Q9GZL7	.;WDR12_HUMAN	L	149	ENSP00000261015:V149L	ENSP00000261015:V149L	V	-	1	0	WDR12	203470277	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	3.982000	0.56909	2.499000	0.84300	0.591000	0.81541	GTG		PASS	0.438	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		40	115	40	115	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206617572	206617572	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:206617572G>T	ENST00000357785.5	+	12	1948	c.1917G>T	c.(1915-1917)caG>caT	p.Q639H	NRP2_ENST00000412873.2_Missense_Mutation_p.Q639H|NRP2_ENST00000540841.1_Missense_Mutation_p.Q639H|NRP2_ENST00000360409.3_Missense_Mutation_p.Q639H|NRP2_ENST00000357118.4_Missense_Mutation_p.Q639H|NRP2_ENST00000272849.3_Missense_Mutation_p.Q639H|NRP2_ENST00000540178.1_Missense_Mutation_p.Q639H			Q99435	NELL2_HUMAN	neuropilin 2	629	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q639H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AAGATTTGCAGCTCCCTTCGG	0.488																																						uc002vaw.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1915-1917)CAG>CAT		neuropilin 2 isoform 1 precursor							64.0	60.0	61.0					2																	206617572		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206617572G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1917G>T	2.37:g.206617572G>T	ENSP00000350432:p.Gln639His					NRP2_uc002vau.2_Missense_Mutation_p.Q639H|NRP2_uc002vav.2_Missense_Mutation_p.Q639H|NRP2_uc002vax.2_Missense_Mutation_p.Q639H|NRP2_uc002vay.2_Missense_Mutation_p.Q639H	p.Q639H	NM_201266	NP_957718	O60462	NRP2_HUMAN			12	2708	+			639			Extracellular (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1917G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900704	0.17686	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D	0.87571	-2.18;-2.19;-2.2;-2.24;-2.24;-2.26;-2.27	5.72	0.204	0.15199	.	0.382901	0.32703	N	0.005755	T	0.62073	0.2398	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.46020	-0.9221	10	0.39692	T	0.17	-16.7455	2.7974	0.05405	0.3529:0.1071:0.4309:0.1092	.	639;639;639;639;639	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	H	639	ENSP00000353582:Q639H;ENSP00000439658:Q639H;ENSP00000439261:Q639H;ENSP00000349632:Q639H;ENSP00000350432:Q639H;ENSP00000407626:Q639H;ENSP00000272849:Q639H	ENSP00000272849:Q639H	Q	+	3	2	NRP2	206325817	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	0.393000	0.20817	0.292000	0.22492	-0.251000	0.11542	CAG		PASS	0.488	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			23	62	23	62	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220355278	220355278	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:220355278G>C	ENST00000312358.7	+	37	9201	c.9069G>C	c.(9067-9069)atG>atC	p.M3023I	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3023	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M3023I(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCGGATCATGTCCCTGCACG	0.632																																						uc010fwg.2																			1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(9067-9069)ATG>ATC		SPEG complex locus							62.0	70.0	67.0					2																	220355278		2123	4226	6349	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355278G>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9069G>C	2.37:g.220355278G>C	ENSP00000311684:p.Met3023Ile						p.M3023I	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	9069	+		Renal(207;0.0183)	3023			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9069G>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861818	0.71949	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.34667	1.35	4.64	4.64	0.57946	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	0.49305	D	0.000145	T	0.22244	0.0536	N	0.00926	-1.1	0.80722	D	1	D	0.53619	0.961	P	0.49752	0.621	T	0.52771	-0.8531	10	0.66056	D	0.02	.	17.3264	0.87249	0.0:0.0:1.0:0.0	.	3023	Q15772	SPEG_HUMAN	I	3023	ENSP00000311684:M3023I	ENSP00000265327:M3023I	M	+	3	0	SPEG	220063522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.541000	0.98083	2.417000	0.82017	0.591000	0.81541	ATG		PASS	0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		13	64	13	64	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225672459	225672459	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:225672459C>G	ENST00000258390.7	-	33	3695	c.3628G>C	c.(3628-3630)Ggc>Cgc	p.G1210R	DOCK10_ENST00000409592.3_Missense_Mutation_p.G1204R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1210					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1208R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGAGCATGCCGTACAGGGGC	0.403																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3628-3630)GGC>CGC		dedicator of cytokinesis 10							56.0	53.0	54.0					2																	225672459		1851	4089	5940	SO:0001583	missense	55619						GTP binding	g.chr2:225672459C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3628G>C	2.37:g.225672459C>G	ENSP00000258390:p.Gly1210Arg					DOCK10_uc002vob.2_Missense_Mutation_p.G1204R|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.G73R	p.G1210R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	33	3867	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1210					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3628G>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421400	0.83559	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.64085	1.9;-0.08	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.70787	2.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.97110	0.986;1.0;0.747	T	0.81470	-0.0918	10	0.87932	D	0	.	19.2452	0.93899	0.0:1.0:0.0:0.0	.	1210;73;1204	Q96BY6;B4DF07;B3FL70	DOC10_HUMAN;.;.	R	1204;1210	ENSP00000386694:G1204R;ENSP00000258390:G1210R	ENSP00000258390:G1210R	G	-	1	0	DOCK10	225380703	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.511000	0.67024	2.596000	0.87737	0.585000	0.79938	GGC		PASS	0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	14	3	14	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228128559	228128559	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr2:228128559A>T	ENST00000396578.3	+	21	1376	c.1214A>T	c.(1213-1215)gAa>gTa	p.E405V	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	405	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.E405V(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGTAAAGGGGAACGAGGCCGC	0.552																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1213-1215)GAA>GTA		alpha 3 type IV collagen isoform 1 precursor							35.0	39.0	38.0					2																	228128559		1860	4090	5950	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228128559A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1214A>T	2.37:g.228128559A>T	ENSP00000379823:p.Glu405Val					COL4A3_uc002von.1_Missense_Mutation_p.E405V|COL4A3_uc002voo.1_Missense_Mutation_p.E405V|COL4A3_uc002vop.1_Missense_Mutation_p.E405V|uc002voq.1_Intron|uc002vor.1_Intron	p.E405V	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	21	1376	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	405			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1214A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.962024	0.53400	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93547	-3.24	6.02	6.02	0.97574	.	0.091793	0.47093	D	0.000259	D	0.96349	0.8809	M	0.77406	2.37	0.37446	D	0.914636	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.996;0.998	D	0.97578	1.0109	10	0.48119	T	0.1	.	14.0678	0.64841	1.0:0.0:0.0:0.0	.	405;405;405;405	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	405	ENSP00000379823:E405V	ENSP00000323334:E405V	E	+	2	0	COL4A3	227836803	0.986000	0.35501	0.220000	0.23810	0.293000	0.27360	3.174000	0.50847	2.311000	0.77944	0.533000	0.62120	GAA		PASS	0.552	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	83	5	83	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14862052	14862052	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:14862052T>G	ENST00000285046.5	+	1	1584	c.1474T>G	c.(1474-1476)Tat>Gat	p.Y492D	FGD5_ENST00000543601.1_Missense_Mutation_p.Y251D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	492					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Y492D(1)|p.Y251D(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTGGCCGGCTATGTCCCAGA	0.617																																						uc003bzc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1474-1476)TAT>GAT		FYVE, RhoGEF and PH domain containing 5							39.0	43.0	42.0					3																	14862052		1942	4119	6061	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862052T>G	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1474T>G	3.37:g.14862052T>G	ENSP00000285046:p.Tyr492Asp					FGD5_uc011avk.1_Missense_Mutation_p.Y492D	p.Y492D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1584	+			492					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1474T>G	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294405	0.23564	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.79454	-1.27;-1.06	4.86	2.46	0.29980	.	0.419962	0.20217	N	0.096788	T	0.69860	0.3158	M	0.64997	1.995	0.26135	N	0.980361	P;P	0.47302	0.818;0.893	B;B	0.42995	0.295;0.404	T	0.62191	-0.6906	10	0.40728	T	0.16	-2.027	2.5956	0.04853	0.1493:0.0816:0.1557:0.6134	.	251;492	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	492;251	ENSP00000285046:Y492D;ENSP00000445949:Y251D	ENSP00000285046:Y492D	Y	+	1	0	FGD5	14837056	1.000000	0.71417	0.357000	0.25798	0.200000	0.23975	3.664000	0.54525	0.235000	0.21160	-0.321000	0.08615	TAT		PASS	0.617	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		28	36	28	36	---	---	---	---
METTL6	131965	broad.mit.edu	37	3	15457358	15457358	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:15457358A>G	ENST00000443029.1	-	4	692	c.452T>C	c.(451-453)gTg>gCg	p.V151A	METTL6_ENST00000450816.2_Missense_Mutation_p.V106A|METTL6_ENST00000383789.5_Missense_Mutation_p.V151A|METTL6_ENST00000383790.3_Missense_Mutation_p.V151A			Q8TCB7	METL6_HUMAN	methyltransferase like 6	151							methyltransferase activity (GO:0008168)	p.V151A(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						AACAACATCCACAGACTCTGG	0.408																																						uc003bzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GTG>GCG		methyltransferase like 6							133.0	131.0	131.0					3																	15457358		2023	4204	6227	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15457358A>G	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.452T>C	3.37:g.15457358A>G	ENSP00000407613:p.Val151Ala					METTL6_uc011avp.1_Missense_Mutation_p.V106A|METTL6_uc003bzt.1_Missense_Mutation_p.V151A|METTL6_uc010hen.1_5'Flank	p.V151A	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN			4	710	-			151					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.452T>C	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486137	0.44147	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000453819;ENST00000383789	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	6.16	6.16	0.99307	Methyltransferase type 12 (1);	0.112463	0.64402	D	0.000012	T	0.11793	0.0287	M	0.71920	2.185	0.80722	D	1	P;B;B	0.36438	0.553;0.104;0.349	B;B;B	0.40782	0.34;0.143;0.122	T	0.00453	-1.1730	10	0.59425	D	0.04	-10.3426	16.4675	0.84087	1.0:0.0:0.0:0.0	.	106;151;151	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	A	151;106;58;151	ENSP00000373300:V151A;ENSP00000410726:V106A;ENSP00000412006:V58A;ENSP00000373299:V151A	ENSP00000373299:V151A	V	-	2	0	METTL6	15432362	1.000000	0.71417	0.959000	0.39883	0.012000	0.07955	9.300000	0.96151	2.367000	0.80283	0.528000	0.53228	GTG		PASS	0.408	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		55	93	55	93	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25668689	25668689	+	Missense_Mutation	SNP	C	C	A	rs532925587		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:25668689C>A	ENST00000264331.4	-	16	2004	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	TOP2B_ENST00000435706.2_Missense_Mutation_p.A664S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	669					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.A664S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AAGGTAATGGCAGCATCATCT	0.398																																						uc011awn.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2005-2007)GCC>TCC		DNA topoisomerase II, beta isozyme							145.0	144.0	145.0					3																	25668689		1890	4103	5993	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25668689C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2005G>T	3.37:g.25668689C>A	ENSP00000264331:p.Ala669Ser					TOP2B_uc003cdj.2_Missense_Mutation_p.A664S	p.A669S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			16	2048	-			669					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2005G>T		.	.	.	.	.	.	.	.	.	.	C	18.61	3.662102	0.67700	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.49139	0.79;0.79	5.58	5.58	0.84498	.	0.090906	0.85682	D	0.000000	T	0.45054	0.1323	L	0.37697	1.125	0.80722	D	1	B	0.32128	0.357	B	0.38683	0.279	T	0.19679	-1.0298	10	0.14656	T	0.56	-1.4365	19.9125	0.97029	0.0:1.0:0.0:0.0	.	664	Q02880-2	.	S	664;669;664	ENSP00000396704:A664S;ENSP00000264331:A669S	ENSP00000264331:A669S	A	-	1	0	TOP2B	25643693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.705000	0.84606	2.782000	0.95742	0.650000	0.86243	GCC		PASS	0.398	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				4	170	4	170	---	---	---	---
ZNF619	285267	broad.mit.edu	37	3	40529231	40529231	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:40529231C>T	ENST00000314686.5	+	6	1587	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	ZNF619_ENST00000522736.1_Silent_p.S401S|ZNF619_ENST00000447116.2_Silent_p.S450S|ZNF619_ENST00000432264.2_Silent_p.S410S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Silent_p.S410S|ZNF619_ENST00000456778.1_Silent_p.S366S|ZNF619_ENST00000521353.1_Silent_p.S450S			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	394					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.S394S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AAACTTTCAGCTGTAGCTCCC	0.473																																						uc011azb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1348-1350)AGC>AGT		zinc finger protein 619 isoform 1							73.0	78.0	76.0					3																	40529231		2203	4300	6503	SO:0001819	synonymous_variant	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529231C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1182C>T	3.37:g.40529231C>T						ZNF619_uc010hhz.2_Silent_p.S401S|ZNF619_uc003ckj.2_Silent_p.S394S|ZNF619_uc011azc.1_Silent_p.S410S|ZNF619_uc011azd.1_Silent_p.S366S|ZNF619_uc011aza.1_Silent_p.S352S	p.S450S	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1628	+			450					B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	ENST00000314686.5	37	c.1350C>T																																																																																					PASS	0.473	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		35	82	35	82	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47125224	47125224	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:47125224A>G	ENST00000409792.3	-	12	6088	c.6046T>C	c.(6046-6048)Tgg>Cgg	p.W2016R	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2016					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.W2016R(1)|p.W1513R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGGTCTTTCCAACTGTCCAGG	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6046-6048)TGG>CGG		SET domain containing 2							187.0	181.0	183.0					3																	47125224		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125224A>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6046T>C	3.37:g.47125224A>G	ENSP00000386759:p.Trp2016Arg					SETD2_uc003cqv.2_Missense_Mutation_p.W2083R|SETD2_uc003cqt.1_RNA	p.W2016R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	6099	-		Acute lymphoblastic leukemia(5;0.0169)	2016					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6046T>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	19.37	3.813687	0.70912	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.22945	1.93	5.59	5.59	0.84812	.	0.000000	0.52532	D	0.000065	T	0.49406	0.1555	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.49615	-0.8921	10	0.62326	D	0.03	.	15.7653	0.78120	1.0:0.0:0.0:0.0	.	2016;2016	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	2016	ENSP00000386759:W2016R	ENSP00000386759:W2016R	W	-	1	0	SETD2	47100228	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.957000	0.93082	2.112000	0.64535	0.528000	0.53228	TGG		PASS	0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		105	170	105	170	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49940543	49940543	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:49940543T>G	ENST00000296474.3	-	1	527	c.500A>C	c.(499-501)cAc>cCc	p.H167P	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.H167P	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	167	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.H167P(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCGGTTATGGTGGGCTGAGAA	0.632																																						uc003cxy.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(499-501)CAC>CCC		macrophage stimulating 1 receptor precursor							34.0	40.0	38.0					3																	49940543		2191	4286	6477	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940543T>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.500A>C	3.37:g.49940543T>G	ENSP00000296474:p.His167Pro					MST1R_uc011bdd.1_Missense_Mutation_p.H167P|MST1R_uc011bde.1_Missense_Mutation_p.H167P|MST1R_uc011bdf.1_Missense_Mutation_p.H167P|MST1R_uc011bdg.1_Missense_Mutation_p.H167P	p.H167P	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	764	-			167			Extracellular (Potential).|Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.500A>C	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102501	0.37145	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10382	2.88;2.88	4.79	-9.59	0.00556	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	2.409040	0.01135	N	0.006077	T	0.06826	0.0174	L	0.44542	1.39	0.09310	N	1	B;P;B;B;P	0.45474	0.219;0.859;0.219;0.219;0.68	B;B;B;B;B	0.37267	0.245;0.209;0.245;0.245;0.212	T	0.42515	-0.9447	10	0.59425	D	0.04	0.4504	2.1704	0.03848	0.1534:0.3395:0.2197:0.2874	.	167;167;167;167;167	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	P	167	ENSP00000296474:H167P;ENSP00000341325:H167P	ENSP00000296474:H167P	H	-	2	0	MST1R	49915547	0.000000	0.05858	0.000000	0.03702	0.837000	0.47467	-0.638000	0.05452	-1.397000	0.02068	0.379000	0.24179	CAC		PASS	0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			29	28	29	28	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100364866	100364866	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:100364866G>A	ENST00000273352.3	+	9	1292	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	GPR128_ENST00000475887.1_Missense_Mutation_p.D47N|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	342					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D342N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGCTAAATCGGATTTTAGTCA	0.333																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1024-1026)GAT>AAT		G protein-coupled receptor 128 precursor							70.0	70.0	70.0					3																	100364866		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100364866G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1024G>A	3.37:g.100364866G>A	ENSP00000273352:p.Asp342Asn					GPR128_uc011bhc.1_Missense_Mutation_p.D43N	p.D342N	NM_032787	NP_116176	Q96K78	GP128_HUMAN			9	1292	+			342			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1024G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590639	0.13812	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.37411	1.2;1.5	5.19	-7.12	0.01537	.	0.532223	0.17084	N	0.187657	T	0.16896	0.0406	L	0.28115	0.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25950	-1.0117	10	0.13470	T	0.59	.	9.6077	0.39643	0.3572:0.1227:0.5201:0.0	.	47;342	E9PHI0;Q96K78	.;GP128_HUMAN	N	342;47	ENSP00000273352:D342N;ENSP00000419788:D47N	ENSP00000273352:D342N	D	+	1	0	GPR128	101847556	0.000000	0.05858	0.008000	0.14137	0.652000	0.38707	-2.081000	0.01367	-1.624000	0.01556	-0.937000	0.02696	GAT		PASS	0.333	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			50	189	50	189	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108403065	108403065	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:108403065G>T	ENST00000361582.3	+	27	3116	c.2886G>T	c.(2884-2886)atG>atT	p.M962I	DZIP3_ENST00000463306.1_Missense_Mutation_p.M962I	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	962					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M962I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TATTTTAGATGCAGCAGTTCT	0.378																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2884-2886)ATG>ATT		DAZ interacting protein 3, zinc finger							102.0	118.0	113.0					3																	108403065		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108403065G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2886G>T	3.37:g.108403065G>T	ENSP00000355028:p.Met962Ile					DZIP3_uc003dxf.1_Missense_Mutation_p.M962I|DZIP3_uc011bhm.1_Missense_Mutation_p.M413I	p.M962I	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			27	3308	+			962					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2886G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686675	0.29962	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.17213	2.29;2.29	5.45	3.65	0.41850	.	0.090906	0.48767	N	0.000178	T	0.10809	0.0264	L	0.31752	0.955	0.28096	N	0.931626	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.26052	-1.0114	10	0.19147	T	0.46	-7.9767	7.7181	0.28717	0.19:0.0:0.81:0.0	.	580;962	D3DN61;Q86Y13	.;DZIP3_HUMAN	I	962	ENSP00000355028:M962I;ENSP00000419981:M962I	ENSP00000355028:M962I	M	+	3	0	DZIP3	109885755	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.897000	0.39799	0.848000	0.35191	0.655000	0.94253	ATG		PASS	0.378	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		239	356	239	356	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111297997	111297997	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:111297997T>C	ENST00000283285.5	+	5	846	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	CD96_ENST00000352690.4_Missense_Mutation_p.F223L|CD96_ENST00000438817.2_Missense_Mutation_p.F223L	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	239					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F239L(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGTCCAAATCTTCGATGATGG	0.443									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(715-717)TTC>CTC		CD96 antigen isoform 1 precursor							119.0	112.0	114.0					3																	111297997		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111297997T>C	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.715T>C	3.37:g.111297997T>C	ENSP00000283285:p.Phe239Leu					CD96_uc003dxv.2_Missense_Mutation_p.F223L|CD96_uc003dxx.2_Missense_Mutation_p.F223L|CD96_uc010hpy.1_Missense_Mutation_p.F223L	p.F239L	NM_198196	NP_937839	P40200	TACT_HUMAN			5	885	+			239			Extracellular (Potential).		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.715T>C	CCDS2959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.009|0.009	-1.857148|-1.857148	0.00558|0.00558	.|.	.|.	ENSG00000153283|ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817|ENST00000465428	T;T;T|.	0.62498|.	1.71;0.02;1.71|.	5.18|5.18	1.17|1.17	0.20885|0.20885	Immunoglobulin subtype (1);|.	1.130110|.	0.06670|.	N|.	0.765948|.	T|T	0.10637|0.10637	0.0260|0.0260	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.09022|.	0.0;0.0;0.002;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.001;0.001;0.0|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|5	0.23302|.	T|.	0.38|.	1.5316|1.5316	4.5771|4.5771	0.12240|0.12240	0.0:0.5606:0.1605:0.279|0.0:0.5606:0.1605:0.279	.|.	223;223;239;223|.	E9PEJ1;P40200-2;P40200;Q8WUE2|.	.;.;TACT_HUMAN;.|.	L|P	223;239;223|64	ENSP00000342040:F223L;ENSP00000283285:F239L;ENSP00000389801:F223L|.	ENSP00000283285:F239L|.	F|L	+|+	1|2	0|0	CD96|CD96	112780687|112780687	0.001000|0.001000	0.12720|0.12720	0.152000|0.152000	0.22495|0.22495	0.017000|0.017000	0.09413|0.09413	-0.040000|-0.040000	0.12104|0.12104	-0.005000|-0.005000	0.14395|0.14395	-0.912000|-0.912000	0.02778|0.02778	TTC|CTT		PASS	0.443	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			68	271	68	271	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111795864	111795864	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:111795864G>T	ENST00000452346.2	+	16	2100	c.2097G>T	c.(2095-2097)caG>caT	p.Q699H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Q573H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	699	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q573H(1)|p.Q428H(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTTTGCTACAGCTCAGTATTG	0.478																																						uc010hqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1717-1719)CAG>CAT		transmembrane protease, serine 7							202.0	189.0	193.0					3																	111795864		1966	4145	6111	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111795864G>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2097G>T	3.37:g.111795864G>T	ENSP00000398236:p.Gln699His					TMPRSS7_uc011bhr.1_Missense_Mutation_p.Q428H	p.Q573H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			14	1889	+			699			Extracellular (Potential).|Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1719G>T		.	.	.	.	.	.	.	.	.	.	G	21.3	4.128371	0.77549	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89050	-2.46;-2.46	6.11	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	N	0.13272	0.32	0.51012	D	0.999904	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	D	0.86912	0.2061	10	0.28530	T	0.3	.	12.4741	0.55803	0.0776:0.0:0.9224:0.0	.	699;573	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	H	699;687;673;573	ENSP00000398236:Q699H;ENSP00000411645:Q573H	ENSP00000411645:Q573H	Q	+	3	2	TMPRSS7	113278554	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.028000	0.76470	1.601000	0.50113	0.655000	0.94253	CAG		PASS	0.478	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		117	381	117	381	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955205	113955205	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:113955205G>A	ENST00000482457.2	-	1	1220	c.717C>T	c.(715-717)caC>caT	p.H239H	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	239					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.H239H(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCTCTCCAGTGTGACTCCTTG	0.458																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)CAC>CAT		zinc finger protein 80							102.0	101.0	101.0					3																	113955205		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955205G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.717C>T	3.37:g.113955205G>A						ZNF80_uc003ebf.2_RNA	p.H239H	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1221	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	239			C2H2-type 7.		Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.717C>T	CCDS2979.1																																																																																				PASS	0.458	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		149	168	149	168	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124692706	124692706	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:124692706C>A	ENST00000311127.4	-	16	3932	c.3865G>T	c.(3865-3867)Gat>Tat	p.D1289Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1289					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D1289Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATTTGGAAATCTCCACTTTTG	0.373																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3865-3867)GAT>TAT		HEG homolog 1 precursor							132.0	129.0	130.0					3																	124692706		1826	4087	5913	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124692706C>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3865G>T	3.37:g.124692706C>A	ENSP00000311502:p.Asp1289Tyr					HEG1_uc003ehr.3_Missense_Mutation_p.D143Y|HEG1_uc011bke.1_Missense_Mutation_p.D1389Y	p.D1289Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			16	3933	-			1289			Cytoplasmic (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3865G>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460922	0.84317	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.93307	-3.2;0.35	4.97	4.97	0.65823	.	0.000000	0.39834	U	0.001241	D	0.93956	0.8065	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95217	0.8330	10	0.87932	D	0	.	18.4352	0.90643	0.0:1.0:0.0:0.0	.	1289	Q9ULI3	HEG1_HUMAN	Y	1289;173	ENSP00000311502:D1289Y;ENSP00000417648:D173Y	ENSP00000311502:D1289Y	D	-	1	0	HEG1	126175396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.273000	0.78527	2.577000	0.86979	0.655000	0.94253	GAT		PASS	0.373	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		29	104	29	104	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126732960	126732960	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:126732960G>T	ENST00000393409.2	+	10	2410		c.e10+1		PLXNA1_ENST00000251772.4_Splice_Site	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1						axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.?(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACATCCAGGGTGAGTGGGCG	0.652																																						uc003ejg.2																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e10+1		plexin A1							97.0	95.0	96.0					3																	126732960		2203	4300	6503	SO:0001630	splice_region_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126732960G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2410+1G>T	3.37:g.126732960G>T							p.A781_splice	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	10	2345	+									Splice_Site	SNP	ENST00000393409.2	37	c.2341_splice	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556376	0.65425	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	2.87	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5372	0.67969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA1	128215650	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.734000	0.84928	1.912000	0.55364	0.491000	0.48974	.		PASS	0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	Intron	19	186	19	186	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132166270	132166270	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:132166270A>G	ENST00000260818.6	+	4	498	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	84					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.K84E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGAAACTTTAAAATTTTCTAC	0.353																																						uc003eor.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(250-252)AAA>GAA		DnaJ (Hsp40) homolog, subfamily C, member 13							46.0	50.0	49.0					3																	132166270		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132166270A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.250A>G	3.37:g.132166270A>G	ENSP00000260818:p.Lys84Glu					DNAJC13_uc010htq.1_Missense_Mutation_p.K84E	p.K84E	NM_015268	NP_056083	O75165	DJC13_HUMAN			4	315	+			84					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.250A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816799	0.90790	.	.	ENSG00000138246	ENST00000260818	T	0.20332	2.08	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	M	0.67397	2.05	0.80722	D	1	P;P	0.52842	0.67;0.956	B;D	0.65010	0.304;0.931	T	0.38001	-0.9681	10	0.72032	D	0.01	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	84;84	A7E2Y5;O75165	.;DJC13_HUMAN	E	84	ENSP00000260818:K84E	ENSP00000260818:K84E	K	+	1	0	DNAJC13	133648960	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.048000	0.93830	2.254000	0.74563	0.533000	0.62120	AAA		PASS	0.353	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		50	133	50	133	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098802	133098802	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:133098802A>G	ENST00000321871.6	+	4	457	c.247A>G	c.(247-249)Aca>Gca	p.T83A	TMEM108_ENST00000515826.1_Missense_Mutation_p.T83A|TMEM108_ENST00000393130.3_Missense_Mutation_p.T83A|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	83	Pro-rich.					integral component of membrane (GO:0016021)		p.T83A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCCATGGCAACACCGACACC	0.617																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(247-249)ACA>GCA		transmembrane protein 108 precursor							97.0	90.0	92.0					3																	133098802		2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098802A>G	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.247A>G	3.37:g.133098802A>G	ENSP00000324651:p.Thr83Ala					TMEM108_uc003epi.2_Missense_Mutation_p.T83A|TMEM108_uc003epj.1_Missense_Mutation_p.T83A|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T34A	p.T83A	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	521	+			83			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.247A>G	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	a	3.825	-0.036915	0.07497	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	3.53	2.31	0.28768	.	0.738243	0.11147	N	0.594629	T	0.32556	0.0833	L	0.36672	1.1	0.09310	N	1	B;B	0.32507	0.373;0.122	B;B	0.30572	0.117;0.06	T	0.17379	-1.0371	10	0.20519	T	0.43	-0.0529	5.9786	0.19395	0.7694:0.0:0.0:0.2306	.	83;83	E9PB58;Q6UXF1	.;TM108_HUMAN	A	83;83;34;34;83;83;83	ENSP00000324651:T83A;ENSP00000376838:T83A;ENSP00000422072:T34A;ENSP00000427447:T34A;ENSP00000426301:T83A;ENSP00000423338:T83A;ENSP00000421486:T83A	ENSP00000324651:T83A	T	+	1	0	TMEM108	134581492	0.000000	0.05858	0.008000	0.14137	0.040000	0.13550	0.161000	0.16481	0.513000	0.28278	0.454000	0.30748	ACA		PASS	0.617	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		39	227	39	227	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739325	138739325	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:138739325A>G	ENST00000329447.5	-	1	443	c.179T>C	c.(178-180)aTa>aCa	p.I60T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	60								p.I60T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGACCACTATGGAGGTGAG	0.726																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(178-180)ATA>ACA		proline rich 23B							13.0	13.0	13.0					3																	138739325		2183	4275	6458	SO:0001583	missense	389151							g.chr3:138739325A>G	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.179T>C	3.37:g.138739325A>G	ENSP00000328768:p.Ile60Thr						p.I60T	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	444	-			60					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.179T>C	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524596	0.27299	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	0.617	0.17619	.	1.117920	0.07088	N	0.838331	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B	0.28820	0.224	B	0.28553	0.091	T	0.27502	-1.0072	9	0.72032	D	0.01	.	3.1162	0.06375	0.6083:0.2525:0.1392:0.0	.	60	Q6ZRT6	PR23B_HUMAN	T	60	.	ENSP00000328768:I60T	I	-	2	0	PRR23B	140222015	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.648000	0.24828	0.121000	0.18284	0.397000	0.26171	ATA		PASS	0.726	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	33	6	33	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547603	165547603	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:165547603C>A	ENST00000264381.3	-	2	1385	c.1219G>T	c.(1219-1221)Gat>Tat	p.D407Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	407					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.D407Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GGTCTCTGATCATCTACCCAG	0.398																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1219-1221)GAT>TAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						73.0	79.0	77.0					3																	165547603		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547603C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1219G>T	3.37:g.165547603C>A	ENSP00000264381:p.Asp407Tyr					BCHE_uc003fen.3_Intron	p.D407Y	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1379	-			407					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1219G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597397	0.28445	.	.	ENSG00000114200	ENST00000264381	T	0.68765	-0.35	5.55	4.67	0.58626	Carboxylesterase, type B (1);	0.101290	0.64402	D	0.000004	T	0.62368	0.2422	M	0.64997	1.995	0.80722	D	1	B	0.21905	0.062	B	0.19148	0.024	T	0.64202	-0.6463	10	0.72032	D	0.01	.	11.0225	0.47726	0.0:0.7989:0.1281:0.073	.	407	P06276	CHLE_HUMAN	Y	407	ENSP00000264381:D407Y	ENSP00000264381:D407Y	D	-	1	0	BCHE	167030297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.560000	0.53763	2.617000	0.88574	0.655000	0.94253	GAT		PASS	0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			53	154	53	154	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183014824	183014824	+	Silent	SNP	C	C	T	rs572258801		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:183014824C>T	ENST00000328913.3	-	12	1734	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000414362.2_Silent_p.P479P|MCF2L2_ENST00000473233.1_Silent_p.P479P|MCF2L2_ENST00000447025.2_Silent_p.P479P	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	479							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P479P(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCTGAGCAACGGGTACTCCT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		22774	0.0		0.0	False		,,,				2504	0.001					uc003fli.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1435-1437)CCG>CCA		Rho family guanine-nucleotide exchange factor							114.0	98.0	103.0					3																	183014824		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183014824C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1437G>A	3.37:g.183014824C>T						MCF2L2_uc003flj.1_Silent_p.P479P|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank	p.P479P	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		12	1527	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		479					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.1437G>A	CCDS3243.1																																																																																				PASS	0.507	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		39	148	39	148	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595138	195595138	+	Silent	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:195595138C>A	ENST00000333602.6	-	12	2603	c.1986G>T	c.(1984-1986)ggG>ggT	p.G662G	TNK2_ENST00000392400.1_Silent_p.G662G|TNK2_ENST00000428187.1_Silent_p.G694G|TNK2_ENST00000381916.2_Silent_p.G740G	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	662	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.G662G(2)|p.G740G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTGGCTGGGCCCGGCAGGGA	0.701																																						uc003fvu.1																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1984-1986)GGG>GGT		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						16.0	21.0	19.0					3																	195595138		2192	4285	6477	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595138C>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1986G>T	3.37:g.195595138C>A						TNK2_uc003fvq.1_Silent_p.G69G|TNK2_uc003fvr.1_Silent_p.G187G|TNK2_uc003fvs.1_Silent_p.G694G|TNK2_uc003fvt.1_Silent_p.G740G|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	p.G662G	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2529	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	662	Missing (in Ref. 4; AAH08884).		Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.1986G>T	CCDS33928.1																																																																																				PASS	0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		8	55	8	55	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3427268	3427268	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:3427268G>A	ENST00000344733.5	+	14	4216	c.3312G>A	c.(3310-3312)aaG>aaA	p.K1104K	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.K1104K|RGS12_ENST00000306648.7_Silent_p.K502K|RGS12_ENST00000538395.1_Silent_p.K446K|RGS12_ENST00000338806.4_Silent_p.K456K|RGS12_ENST00000382788.3_Silent_p.K1104K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1104	RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.K1104K(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGAGGAGAAGGATCCTTCCA	0.622																																						uc003ggw.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3310-3312)AAG>AAA		regulator of G-protein signalling 12 isoform 1							109.0	112.0	111.0					4																	3427268		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3427268G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3312G>A	4.37:g.3427268G>A						RGS12_uc003ggv.2_Silent_p.K1104K|RGS12_uc003ggy.1_Silent_p.K502K|RGS12_uc003ggz.2_Silent_p.K456K|RGS12_uc010icu.1_Silent_p.K303K|RGS12_uc011bvs.1_Silent_p.K446K|RGS12_uc003gha.2_Silent_p.K446K|RGS12_uc010icv.2_Silent_p.K303K|RGS12_uc003ghb.2_Silent_p.K303K	p.K1104K	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	14	4216	+			1104			RBD 2.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3312G>A	CCDS3366.1																																																																																				PASS	0.622	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		85	132	85	132	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6969094	6969094	+	Silent	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:6969094A>G	ENST00000409757.4	+	3	910	c.786A>G	c.(784-786)ttA>ttG	p.L262L	TBC1D14_ENST00000448507.1_Silent_p.L262L|TBC1D14_ENST00000410031.1_Silent_p.L34L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	262					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.L247L(1)|p.L262L(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GATGGAAGTTATTTGGGAAAG	0.413																																						uc011bwg.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(784-786)TTA>TTG		TBC1 domain family, member 14 isoform a							103.0	100.0	101.0					4																	6969094		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6969094A>G	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.786A>G	4.37:g.6969094A>G						TBC1D14_uc003gjs.3_Silent_p.L262L	p.L262L	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			3	865	+			262					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.786A>G	CCDS3394.2																																																																																				PASS	0.413	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		42	87	42	87	---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15529081	15529081	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:15529081C>T	ENST00000503292.1	+	13	1341	c.1161C>T	c.(1159-1161)taC>taT	p.Y387Y	CC2D2A_ENST00000413206.1_Silent_p.Y387Y|CC2D2A_ENST00000424120.1_Silent_p.Y387Y|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Silent_p.Y338Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	387					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.Y387Y(1)|p.Y338Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGTAAAATACGTTCACAGTA	0.413																																						uc010idv.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(1159-1161)TAC>TAT		coiled-coil and C2 domain containing 2A isoform							76.0	74.0	75.0					4																	15529081		1894	4118	6012	SO:0001819	synonymous_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15529081C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1161C>T	4.37:g.15529081C>T						CC2D2A_uc003gnx.2_Silent_p.Y338Y|CC2D2A_uc003gnv.2_Silent_p.Y387Y	p.Y387Y	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			13	1406	+			387					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	c.1161C>T	CCDS47026.1																																																																																				PASS	0.413	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		9	19	9	19	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15987391	15987391	+	Missense_Mutation	SNP	C	C	G	rs371004406		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:15987391C>G	ENST00000510224.1	-	22	2520	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	PROM1_ENST00000539194.1_Missense_Mutation_p.E758Q|PROM1_ENST00000505450.1_Missense_Mutation_p.E749Q|PROM1_ENST00000447510.2_Missense_Mutation_p.E758Q|PROM1_ENST00000508167.1_Missense_Mutation_p.E749Q|PROM1_ENST00000543373.1_Missense_Mutation_p.E749Q|PROM1_ENST00000540805.1_Missense_Mutation_p.E758Q			O43490	PROM1_HUMAN	prominin 1	758					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.E757Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAGAGAACTCGATCCACTGC	0.318																																						uc003goo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(2272-2274)GAG>CAG		prominin 1 isoform 1							75.0	67.0	70.0					4																	15987391		1828	4069	5897	SO:0001583	missense	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15987391C>G	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2272G>C	4.37:g.15987391C>G	ENSP00000426809:p.Glu758Gln					PROM1_uc003gor.2_Missense_Mutation_p.E758Q|PROM1_uc003gos.2_Missense_Mutation_p.E749Q|PROM1_uc003got.2_Missense_Mutation_p.E758Q|PROM1_uc003gou.2_Missense_Mutation_p.E749Q|PROM1_uc003gop.2_Missense_Mutation_p.E749Q|PROM1_uc003goq.3_Missense_Mutation_p.E749Q	p.E758Q	NM_006017	NP_006008	O43490	PROM1_HUMAN			21	2484	-			758			Extracellular (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	c.2272G>C	CCDS47029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.029256|2.029256	0.35797|0.35797	.|.	.|.	ENSG00000007062|ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373|ENST00000513946	T;T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95;0.95;0.95|.	5.31|5.31	-2.09|-2.09	0.07232|0.07232	.|.	0.412570|.	0.30003|.	N|.	0.010659|.	T|T	0.17959|0.17959	0.0431|0.0431	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;P;B|.	0.48589|.	0.275;0.275;0.275;0.275;0.912;0.322|.	B;B;B;B;B;B|.	0.42522|.	0.113;0.113;0.113;0.113;0.39;0.18|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.13853|.	T|.	0.58|.	-2.1415|-2.1415	5.7801|5.7801	0.18301|0.18301	0.1243:0.2648:0.0:0.6109|0.1243:0.2648:0.0:0.6109	.|.	749;758;749;758;749;758|.	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490|.	.;.;.;.;.;PROM1_HUMAN|.	Q|P	758;758;758;749;749;758;749|8	ENSP00000415481:E758Q;ENSP00000438045:E758Q;ENSP00000443620:E758Q;ENSP00000426090:E749Q;ENSP00000427346:E749Q;ENSP00000426809:E758Q;ENSP00000445526:E749Q|.	ENSP00000415481:E758Q|.	E|R	-|-	1|2	0|0	PROM1|PROM1	15596489|15596489	0.994000|0.994000	0.37717|0.37717	0.000000|0.000000	0.03702|0.03702	0.075000|0.075000	0.17131|0.17131	1.688000|1.688000	0.37690|0.37690	-0.559000|-0.559000	0.06110|0.06110	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.318	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		4	20	4	20	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52928470	52928470	+	Silent	SNP	C	C	A	rs143076152		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:52928470C>A	ENST00000295213.4	+	4	768	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Silent_p.R132R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	132					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.R132R(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAACTCAACCCGGAGTCAATG	0.388																																						uc003gzl.2																			4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(2)	4						c.(394-396)CGG>AGG		spermatogenesis associated 18 homolog							93.0	94.0	94.0					4																	52928470		2203	4300	6503	SO:0001819	synonymous_variant	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52928470C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.394C>A	4.37:g.52928470C>A						SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Silent_p.R132R|SPATA18_uc003gzk.1_Silent_p.R132R	p.R132R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		4	672	+			132			Potential.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	c.394C>A	CCDS3489.1																																																																																				PASS	0.388	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	162	4	162	---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69683839	69683839	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:69683839C>A	ENST00000265403.7	+	2	838	c.811C>A	c.(811-813)Cca>Aca	p.P271T	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P187T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P271T(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCATTCTTACCAAATGTTGA	0.393																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(811-813)CCA>ACA		UDP glucuronosyltransferase 2B10 isoform 1							165.0	172.0	170.0					4																	69683839		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683839C>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.811C>A	4.37:g.69683839C>A	ENSP00000265403:p.Pro271Thr					UGT2B10_uc011cam.1_Missense_Mutation_p.P187T	p.P271T	NM_001075	NP_001066	P36537	UDB10_HUMAN			2	836	+			271					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.811C>A		.	.	.	.	.	.	.	.	.	.	c	11.51	1.660498	0.29515	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.69561	-0.41;-0.28	2.66	2.66	0.31614	.	0.000000	0.64402	U	0.000001	D	0.87018	0.6073	H	0.98333	4.205	0.34074	D	0.658844	D;D	0.76494	0.998;0.999	D;D	0.79108	0.941;0.992	D	0.91995	0.5606	10	0.87932	D	0	.	10.7681	0.46305	0.0:1.0:0.0:0.0	.	187;271	B4DPP1;P36537	.;UDB10_HUMAN	T	271;187	ENSP00000265403:P271T;ENSP00000413420:P187T	ENSP00000265403:P271T	P	+	1	0	UGT2B10	69718428	1.000000	0.71417	0.016000	0.15963	0.015000	0.08874	3.926000	0.56491	1.317000	0.45149	0.184000	0.17185	CCA		PASS	0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		114	209	114	209	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87968580	87968580	+	Missense_Mutation	SNP	C	C	T	rs561558992		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:87968580C>T	ENST00000307808.6	+	3	1292	c.872C>T	c.(871-873)aCg>aTg	p.T291M	AFF1_ENST00000395146.4_Missense_Mutation_p.T298M|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	291					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T298M(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAGAAGCCCACGGCTTATGTC	0.557																																						uc003hqj.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(871-873)ACG>ATG		myeloid/lymphoid or mixed-lineage leukemia							104.0	113.0	110.0					4																	87968580		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968580C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.872C>T	4.37:g.87968580C>T	ENSP00000305689:p.Thr291Met					AFF1_uc011ccx.1_Missense_Mutation_p.T232M|AFF1_uc003hqh.1_Missense_Mutation_p.T298M|AFF1_uc011ccy.1_Missense_Mutation_p.T298M|AFF1_uc011ccz.1_Missense_Mutation_p.T298M|AFF1_uc003hqk.3_Missense_Mutation_p.T291M|AFF1_uc011cda.1_Intron	p.T291M	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1279	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	291					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.872C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528855	0.85706	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.88695	0.6506	M	0.84683	2.71	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;1.0;1.0;1.0;1.0	D	0.88791	0.3278	10	0.72032	D	0.01	-24.0622	20.6634	0.99662	0.0:1.0:0.0:0.0	.	298;298;232;291;291;298	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	M	298;298;298;298;291	ENSP00000378578:T298M;ENSP00000427593:T298M;ENSP00000424483:T298M;ENSP00000305689:T291M	ENSP00000305689:T291M	T	+	2	0	AFF1	88187604	1.000000	0.71417	0.976000	0.42696	0.696000	0.40369	5.652000	0.67959	2.894000	0.99253	0.655000	0.94253	ACG		PASS	0.557	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		82	164	82	164	---	---	---	---
SLC9B2	133308	broad.mit.edu	37	4	103966046	103966046	+	Splice_Site	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:103966046C>A	ENST00000394785.3	-	8	1628		c.e8+1		SLC9B2_ENST00000339611.4_Splice_Site|SLC9B2_ENST00000503230.1_Splice_Site|SLC9B2_ENST00000503103.1_Splice_Site|SLC9B2_ENST00000362026.3_Splice_Site	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2						ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.?(2)									ATTTCTTTCACCTGGTCACGG	0.403																																						uc003hwx.3																			2	Unknown(2)		lung(2)		0						c.e8+1		Na+/H+ exchanger domain containing 2							142.0	153.0	149.0					4																	103966046		2203	4300	6503	SO:0001630	splice_region_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103966046C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.996+1G>T	4.37:g.103966046C>A						NHEDC2_uc010iln.1_Splice_Site_p.Q184_splice|NHEDC2_uc003hwy.2_Splice_Site_p.Q332_splice|NHEDC2_uc011cew.1_Splice_Site_p.Q275_splice|NHEDC2_uc011cex.1_Splice_Site_p.Q275_splice	p.Q332_splice	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	8	1868	-								B5ME52|Q6ZMD8|Q96D95	Splice_Site	SNP	ENST00000394785.3	37	c.996_splice	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726137	0.69074	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3653	0.90389	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9B2	104185495	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.038000	0.76537	2.337000	0.79520	0.313000	0.20887	.		PASS	0.403	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833	Intron	69	121	69	121	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113575316	113575316	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:113575316G>T	ENST00000344442.5	+	12	1946		c.e12+1		LARP7_ENST00000509061.1_Splice_Site|LARP7_ENST00000324052.6_Splice_Site	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACTGAAAAGGTAATTGATTC	0.338																																						uc003iay.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e12+1		La ribonucleoprotein domain family, member 7							97.0	100.0	99.0					4																	113575316		2203	4300	6503	SO:0001630	splice_region_variant	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113575316G>T	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1668+1G>T	4.37:g.113575316G>T						LARP7_uc003iaz.2_Splice_Site_p.K563_splice|LARP7_uc003iba.2_Splice_Site_p.K477_splice|LARP7_uc003ibb.2_Splice_Site_p.K556_splice	p.K556_splice	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	12	1946	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)						B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Splice_Site	SNP	ENST00000344442.5	37	c.1668_splice	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040094	0.75732	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000324052	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.075	0.93158	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP7	113794765	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.410000	0.97335	2.502000	0.84385	0.591000	0.81541	.		PASS	0.338	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	Intron	35	45	35	45	---	---	---	---
FGF2	2247	broad.mit.edu	37	4	123797543	123797543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:123797543C>A	ENST00000608478.1	+	2	590	c.246C>A	c.(244-246)taC>taA	p.Y82*	FGF2_ENST00000264498.3_Nonsense_Mutation_p.Y215*			P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	215					activation of MAPK activity (GO:0000187)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|embryonic morphogenesis (GO:0048598)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hyaluronan catabolic process (GO:0030214)|innate immune response (GO:0045087)|inositol phosphate biosynthetic process (GO:0032958)|insulin receptor signaling pathway (GO:0008286)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell death (GO:0060548)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of wound healing (GO:0061045)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell fate specification (GO:0042660)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|release of sequestered calcium ion into cytosol (GO:0051209)|signal transduction (GO:0007165)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Y215*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)|Sirolimus(DB00877)|Sucralfate(DB00364)	CTAACCGTTACCTGGCTATGA	0.383																																						uc003iev.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(643-645)TAC>TAA		fibroblast growth factor 2	Pentosan Polysulfate(DB00686)						169.0	159.0	163.0					4																	123797543		2203	4300	6503	SO:0001587	stop_gained	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123797543C>A	J04513	CCDS34059.1	4q26	2014-01-30			ENSG00000138685	ENSG00000138685		"""Endogenous ligands"""	3676	protein-coding gene	gene with protein product		134920		FGFB		9925931	Standard	NM_002006		Approved		uc003iev.1	P09038	OTTHUMG00000039506	ENST00000608478.1:c.246C>A	4.37:g.123797543C>A	ENSP00000477134:p.Tyr82*						p.Y215*	NM_002006	NP_001997	P09038	FGF2_HUMAN			2	713	+			215					A4LBB8|O00527|P78443|Q16443|Q5PY50|Q7KZ11|Q7KZ72|Q9UC54|Q9UCS5|Q9UCS6	Nonsense_Mutation	SNP	ENST00000608478.1	37	c.645C>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.949808	0.92660	.	.	ENSG00000138685	ENST00000264498	.	.	.	5.64	1.79	0.24919	.	0.074557	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7651	0.51926	0.0:0.7876:0.0:0.2124	.	.	.	.	X	215	.	ENSP00000264498:Y215X	Y	+	3	2	FGF2	124016993	0.990000	0.36364	0.888000	0.34837	0.897000	0.52465	0.050000	0.14120	0.131000	0.18576	0.563000	0.77884	TAC		PASS	0.383	FGF2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472102.1	NM_002006		30	60	30	60	---	---	---	---
HAND2	9464	broad.mit.edu	37	4	174448478	174448478	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr4:174448478C>A	ENST00000359562.4	-	2	1543	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	HAND2_ENST00000505300.1_5'Flank|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	202					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G202C(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCCGTCCGGCCTTTGGTTTTC	0.577																																						uc003ith.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(604-606)GGC>TGC		basic helix-loop-helix transcription factor							89.0	96.0	93.0					4																	174448478		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174448478C>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.604G>T	4.37:g.174448478C>A	ENSP00000352565:p.Gly202Cys					HAND2_uc003itg.1_Missense_Mutation_p.R167M	p.G202C	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	1542	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	202					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.604G>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807235	0.90623	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98192	-4.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99831	1.1054	10	0.87932	D	0	-27.7993	20.0051	0.97433	0.0:1.0:0.0:0.0	.	202	P61296	HAND2_HUMAN	C	202;171;150	ENSP00000352565:G202C	ENSP00000352565:G202C	G	-	1	0	HAND2	174685053	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.880000	0.69698	2.739000	0.93911	0.561000	0.74099	GGC		PASS	0.577	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			57	101	57	101	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	644526	644526	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:644526A>G	ENST00000264935.5	+	10	1742	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	551					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.N551S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCCACGTTAAATTTGCAGATC	0.368																																						uc003jbf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1651-1653)AAT>AGT		centrosomal protein 72 kDa							168.0	164.0	165.0					5																	644526		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:644526A>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1652A>G	5.37:g.644526A>G	ENSP00000264935:p.Asn551Ser						p.N551S	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		10	1724	+			551			Potential.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1652A>G	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	0.843	-0.741281	0.03088	.	.	ENSG00000112877	ENST00000264935	T	0.61859	0.07	4.64	-3.59	0.04583	.	0.590248	0.16653	N	0.205124	T	0.30355	0.0762	L	0.29908	0.895	0.09310	N	0.999998	B	0.17038	0.02	B	0.12837	0.008	T	0.35425	-0.9789	10	0.02654	T	1	-6.7899	4.8536	0.13549	0.4028:0.2933:0.3039:0.0	.	551	Q9P209	CEP72_HUMAN	S	551	ENSP00000264935:N551S	ENSP00000264935:N551S	N	+	2	0	CEP72	697526	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.436000	0.06922	-0.364000	0.08088	-0.366000	0.07423	AAT		PASS	0.368	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		48	364	48	364	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6739923	6739923	+	Missense_Mutation	SNP	C	C	A	rs532305230		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:6739923C>A	ENST00000230859.6	+	4	345	c.216C>A	c.(214-216)aaC>aaA	p.N72K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	302	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.N72K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAGCACAACGTGGCTGAGC	0.587																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)AAC>AAA		DNA polymerase sigma							100.0	84.0	90.0					5																	6739923		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6739923C>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.216C>A	5.37:g.6739923C>A	ENSP00000230859:p.Asn72Lys					PAPD7_uc011cmn.1_Missense_Mutation_p.N63K	p.N72K	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			4	345	+			72					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.216C>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610013	0.14066	.	.	ENSG00000112941	ENST00000230859	T	0.41758	0.99	5.14	-3.06	0.05379	Nucleotidyl transferase domain (1);	0.199847	0.52532	D	0.000076	T	0.15392	0.0371	N	0.04148	-0.265	0.36275	D	0.855413	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.24368	-1.0162	10	0.13853	T	0.58	-10.8167	9.0816	0.36556	0.0969:0.3356:0.0:0.5674	.	72;72	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	K	72	ENSP00000230859:N72K	ENSP00000230859:N72K	N	+	3	2	PAPD7	6792923	0.005000	0.15991	0.667000	0.29798	0.941000	0.58515	-1.260000	0.02858	-0.937000	0.03719	-2.048000	0.00412	AAC		PASS	0.587	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		3	118	3	118	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19838948	19838948	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:19838948G>A	ENST00000507958.1	-	5	1138	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	CDH18_ENST00000511273.1_Missense_Mutation_p.R50C|CDH18_ENST00000382275.1_Missense_Mutation_p.R50C|CDH18_ENST00000274170.4_Missense_Mutation_p.R50C|CDH18_ENST00000502796.1_Missense_Mutation_p.R50C|CDH18_ENST00000506372.1_Missense_Mutation_p.R50C			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R50C(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTTGGGACGATGATGGACT	0.418																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(148-150)CGT>TGT		cadherin 18, type 2 preproprotein							197.0	164.0	176.0					5																	19838948		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838948G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.148C>T	5.37:g.19838948G>A	ENSP00000425093:p.Arg50Cys					CDH18_uc003jgd.2_Missense_Mutation_p.R50C|CDH18_uc011cnm.1_Missense_Mutation_p.R50C	p.R50C	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	525	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		50					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.148C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134677	0.77662	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.00587	6.38;6.38;6.38;6.38;6.38;6.38	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.04003	0.0112	M	0.87900	2.915	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.23013	-1.0200	9	.	.	.	.	18.9006	0.92440	0.0:0.0:1.0:0.0	.	50;50	B4DHG6;Q13634	.;CAD18_HUMAN	C	50	ENSP00000371710:R50C;ENSP00000425093:R50C;ENSP00000274170:R50C;ENSP00000424931:R50C;ENSP00000422138:R50C;ENSP00000425854:R50C	.	R	-	1	0	CDH18	19874705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.807000	0.62576	2.805000	0.96524	0.655000	0.94253	CGT		PASS	0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		15	206	15	206	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33535093	33535093	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:33535093G>T	ENST00000504830.1	-	23	4786	c.4451C>A	c.(4450-4452)tCc>tAc	p.S1484Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1399Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1484	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1484Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACAGGAAGTGGAACACTGAAA	0.488										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4450-4452)TCC>TAC		ADAM metallopeptidase with thrombospondin type 1							78.0	73.0	75.0					5																	33535093		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535093G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4451C>A	5.37:g.33535093G>T	ENSP00000422554:p.Ser1484Tyr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1399Y	p.S1484Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4614	-			1484			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4451C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603479	0.28534	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.68624	-0.34;-0.34	4.98	2.08	0.27032	.	0.229726	0.45126	D	0.000392	T	0.75946	0.3919	H	0.98542	4.26	0.21984	N	0.99944	P;P	0.43885	0.785;0.82	B;B	0.39119	0.195;0.291	T	0.72649	-0.4229	10	0.87932	D	0	.	8.286	0.31928	0.0:0.149:0.5617:0.2893	.	1399;1484	P58397-3;P58397	.;ATS12_HUMAN	Y	1484;1399	ENSP00000422554:S1484Y;ENSP00000344847:S1399Y	ENSP00000344847:S1399Y	S	-	2	0	ADAMTS12	33570850	0.975000	0.34042	0.204000	0.23530	0.727000	0.41649	2.674000	0.46867	0.182000	0.20032	0.563000	0.77884	TCC		PASS	0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		26	146	26	146	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35070228	35070228	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:35070228C>G	ENST00000382002.5	-	7	1109	c.683G>C	c.(682-684)aGt>aCt	p.S228T	PRLR_ENST00000513753.1_Missense_Mutation_p.S228T|PRLR_ENST00000231423.3_Missense_Mutation_p.S228T|PRLR_ENST00000348262.3_Missense_Mutation_p.S228T|PRLR_ENST00000542609.1_Missense_Mutation_p.S228T|PRLR_ENST00000397391.3_Missense_Mutation_p.S157T|PRLR_ENST00000310101.5_Missense_Mutation_p.S228T|PRLR_ENST00000511486.1_Missense_Mutation_p.S127T|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Missense_Mutation_p.S127T	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	228	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.S228T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ACGCTCACCACTAGGTATCTG	0.413																																						uc003jjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(682-684)AGT>ACT		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						102.0	86.0	92.0					5																	35070228		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35070228C>G		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.683G>C	5.37:g.35070228C>G	ENSP00000371432:p.Ser228Thr					PRLR_uc003jjg.1_Missense_Mutation_p.S228T|PRLR_uc003jjh.1_Missense_Mutation_p.S228T|PRLR_uc003jji.1_Missense_Mutation_p.S157T|PRLR_uc003jjj.1_Missense_Mutation_p.S228T|PRLR_uc003jjk.1_Missense_Mutation_p.S157T|PRLR_uc003jjl.3_Missense_Mutation_p.S127T|PRLR_uc010iuw.1_Missense_Mutation_p.S157T	p.S228T	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1213	-	all_lung(31;3.83e-05)		228			Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.683G>C	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	6.575	0.474364	0.12521	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;T;D;T;D;T	0.88354	-1.07;-1.05;-1.12;-1.6;-1.08;-2.37;-1.46;-2.37;-1.05	5.65	-1.3	0.09259	.	0.588400	0.21337	N	0.076181	D	0.82318	0.5011	M	0.64997	1.995	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001;0.0;0.0	T	0.70410	-0.4879	10	0.51188	T	0.08	-12.8784	3.2396	0.06776	0.1074:0.3116:0.107:0.474	.	228;228;127;157;228;228;228	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	T	228;228;228;157;228;127;228;127;228	ENSP00000231423:S228T;ENSP00000424841:S228T;ENSP00000311613:S228T;ENSP00000380546:S157T;ENSP00000441813:S228T;ENSP00000339213:S127T;ENSP00000371432:S228T;ENSP00000422556:S127T;ENSP00000309008:S228T	ENSP00000231423:S228T	S	-	2	0	PRLR	35105985	0.002000	0.14202	0.859000	0.33776	0.090000	0.18270	-0.081000	0.11321	-0.053000	0.13289	0.655000	0.94253	AGT		PASS	0.413	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			30	114	30	114	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39138759	39138759	+	Splice_Site	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:39138759A>T	ENST00000351578.6	-	6	1584	c.1394T>A	c.(1393-1395)aTa>aAa	p.I465K	FYB_ENST00000515010.1_Splice_Site_p.I465K|FYB_ENST00000505428.1_Splice_Site_p.I465K|FYB_ENST00000512982.1_Splice_Site_p.I465K|FYB_ENST00000540520.1_Splice_Site_p.I475K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	465					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.I465K(3)|p.I475K(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAATTCATACATGTCTTCATA	0.289																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1393-1395)ATA>AAA		FYN binding protein (FYB-120/130) isoform 2							69.0	68.0	68.0					5																	39138759		1802	4058	5860	SO:0001630	splice_region_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39138759A>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1394+1T>A	5.37:g.39138759A>T						FYB_uc003jlt.2_Missense_Mutation_p.I465K|FYB_uc003jlu.2_Missense_Mutation_p.I465K|FYB_uc011cpl.1_Missense_Mutation_p.I475K	p.I465K	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		5	1461	-	all_lung(31;0.000343)		465			SH2-binding (Potential).|Potential.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1394T>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351178	0.61183	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.24723	1.84;1.84;1.86;1.86;1.86	5.54	5.54	0.83059	.	0.412912	0.28425	N	0.015392	T	0.46425	0.1392	L	0.60455	1.87	0.58432	D	0.999998	D;D	0.71674	0.966;0.998	P;D	0.78314	0.543;0.991	T	0.33266	-0.9875	9	.	.	.	-9.1032	13.9342	0.64015	1.0:0.0:0.0:0.0	.	475;465	B4DLN2;O15117	.;FYB_HUMAN	K	465;465;465;465;475;465	ENSP00000316460:I465K;ENSP00000426346:I465K;ENSP00000425845:I465K;ENSP00000427114:I465K;ENSP00000442840:I475K	.	I	-	2	0	FYB	39174516	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.734000	0.68580	2.114000	0.64651	0.533000	0.62120	ATA		PASS	0.289	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	Missense_Mutation	7	52	7	52	---	---	---	---
C7	730	broad.mit.edu	37	5	40981579	40981579	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:40981579G>A	ENST00000313164.9	+	18	2795	c.2436G>A	c.(2434-2436)gaG>gaA	p.E812E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	812	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E812E(1)					Ovarian(839;0.0112)				ACGGCAAGGAGCAGACGATGT	0.547																																						uc003jmh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2434-2436)GAG>GAA		complement component 7 precursor							69.0	72.0	71.0					5																	40981579		2135	4245	6380	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981579G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2436G>A	5.37:g.40981579G>A							p.E812E	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2550	+		Ovarian(839;0.0112)	812			Complement control factor I module 2.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.2436G>A	CCDS47201.1																																																																																				PASS	0.547	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			26	38	26	38	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41033217	41033217	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:41033217C>A	ENST00000399564.4	-	23	2737	c.2287G>T	c.(2287-2289)Ggc>Tgc	p.G763C	MROH2B_ENST00000506092.2_Missense_Mutation_p.G318C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	763								p.G763C(1)									ACAGCAATGCCAATCTCAGTG	0.448																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2287-2289)GGC>TGC		HEAT repeat family member 7B2							124.0	114.0	117.0					5																	41033217		2023	4177	6200	SO:0001583	missense	133558						binding	g.chr5:41033217C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2287G>T	5.37:g.41033217C>A	ENSP00000382476:p.Gly763Cys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.G318C	p.G763C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			23	2777	-			763					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2287G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914870	0.17907	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68479	3.32;-0.33	5.25	-1.28	0.09318	Armadillo-type fold (1);	0.614207	0.15505	N	0.258824	T	0.49508	0.1561	L	0.44542	1.39	0.24723	N	0.993136	B	0.12013	0.005	B	0.16289	0.015	T	0.37407	-0.9707	10	0.46703	T	0.11	.	3.0661	0.06214	0.3085:0.3345:0.0:0.357	.	763	Q7Z745	HTRB2_HUMAN	C	318;468;763	ENSP00000441504:G318C;ENSP00000382476:G763C	ENSP00000296803:G468C	G	-	1	0	HEATR7B2	41068974	0.024000	0.19004	0.932000	0.37286	0.678000	0.39670	-0.347000	0.07750	0.033000	0.15463	-0.768000	0.03414	GGC		PASS	0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		29	108	29	108	---	---	---	---
FOXD1	2297	broad.mit.edu	37	5	72743694	72743694	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:72743694T>C	ENST00000499003.3	-	1	658	c.494A>G	c.(493-495)aAg>aGg	p.K165R	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	165					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K165R(2)		endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCGGGGAACTTCTCCCGGTA	0.627																																						uc003kcp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(493-495)AAG>AGG		forkhead box D1							50.0	63.0	59.0					5																	72743694		2203	4300	6503	SO:0001583	missense	2297				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr5:72743694T>C	U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.494A>G	5.37:g.72743694T>C	ENSP00000462795:p.Lys165Arg						p.K165R	NM_004472	NP_004463	Q16676	FOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)	1	659	-		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)	165			Fork-head.		Q12949	Missense_Mutation	SNP	ENST00000499003.3	37	c.494A>G																																																																																					PASS	0.627	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000369154.2	NM_004472		35	35	35	35	---	---	---	---
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:136963999G>A	ENST00000309755.4	-	13	2021	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	KLHL3_ENST00000506491.1_Silent_p.C444C|KLHL3_ENST00000508657.1_Silent_p.C494C|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537																																						uc010jek.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1576-1578)TGC>TGT		kelch-like 3							234.0	200.0	212.0					5																	136963999		2203	4300	6503	SO:0001819	synonymous_variant	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136963999G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1578C>T	5.37:g.136963999G>A						KLHL3_uc011cyc.1_Silent_p.C261C|KLHL3_uc003lbr.3_Silent_p.C444C|KLHL3_uc011cyd.1_RNA	p.C526C	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	13	2022	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	526			Kelch 5.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	c.1578C>T	CCDS4192.1																																																																																				PASS	0.537	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			4	210	4	210	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736757	140736757	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:140736757G>T	ENST00000571252.1	+	1	1990	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTGGCTGTGGCCGACAG	0.632																																						uc003ljq.1																			0					0						c.(1990-1992)GTG>TTG		protocadherin gamma subfamily A, 4 isoform 1							24.0	29.0	27.0					5																	140736757		2183	4282	6465	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736757G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1990G>T	5.37:g.140736757G>T	ENSP00000458570:p.Val664Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V664L|PCDHGB2_uc011dar.1_5'Flank	p.V664L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1990	+			664			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1990G>T	CCDS58979.1																																																																																				PASS	0.632	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		13	22	13	22	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176316651	176316651	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr5:176316651A>G	ENST00000292432.5	-	7	816	c.725T>C	c.(724-726)gTt>gCt	p.V242A		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	242	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.V242A(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCACCTACAACTAGCCCAAC	0.592																																						uc003mfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(724-726)GTT>GCT		hexokinase 3							231.0	175.0	194.0					5																	176316651		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316651A>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.725T>C	5.37:g.176316651A>G	ENSP00000292432:p.Val242Ala					HK3_uc003mez.2_5'Flank	p.V242A	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	817	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	242			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.725T>C	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332137	0.60853	.	.	ENSG00000160883	ENST00000292432	D	0.98362	-4.89	5.71	5.71	0.89125	Hexokinase, C-terminal (1);	0.265106	0.26903	N	0.021909	D	0.98046	0.9356	L	0.42245	1.32	0.26453	N	0.97557	P	0.34662	0.462	P	0.52189	0.692	D	0.95679	0.8730	10	0.87932	D	0	.	15.656	0.77136	1.0:0.0:0.0:0.0	.	242	P52790	HXK3_HUMAN	A	242	ENSP00000292432:V242A	ENSP00000292432:V242A	V	-	2	0	HK3	176249257	0.953000	0.32496	0.025000	0.17156	0.092000	0.18411	8.710000	0.91388	2.180000	0.69256	0.379000	0.24179	GTT		PASS	0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			42	52	42	52	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24178600	24178600	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:24178600G>T	ENST00000378454.3	-	9	1585	c.1284C>A	c.(1282-1284)gaC>gaA	p.D428E	DCDC2_ENST00000378450.3_Missense_Mutation_p.D181E	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	428					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.D428E(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTCTTTCCTTGTCTAGGACCA	0.473																																						uc003ndx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1282-1284)GAC>GAA		doublecortin domain containing 2							240.0	230.0	234.0					6																	24178600		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24178600G>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1284C>A	6.37:g.24178600G>T	ENSP00000367715:p.Asp428Glu					DCDC2_uc003ndy.2_Missense_Mutation_p.D428E|DCDC2_uc003ndw.2_Missense_Mutation_p.D179E	p.D428E	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			9	1586	-		Ovarian(999;0.101)	428					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.1284C>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	G	3.364	-0.129796	0.06753	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.46451	4.27;0.87	5.29	-10.6	0.00265	.	0.696203	0.13871	N	0.357003	T	0.04363	0.0120	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.13407	0.001;0.009	T	0.07849	-1.0751	10	0.12430	T	0.62	-3.9719	6.7988	0.23740	0.5041:0.3276:0.0995:0.0689	.	428;181	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	E	428;181	ENSP00000367715:D428E;ENSP00000367711:D181E	ENSP00000367711:D181E	D	-	3	2	DCDC2	24286579	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.870000	0.00093	-4.019000	0.00081	-2.000000	0.00444	GAC		PASS	0.473	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		75	372	75	372	---	---	---	---
HIST1H2AM	8336	broad.mit.edu	37	6	27860917	27860917	+	Missense_Mutation	SNP	C	C	A	rs372303389		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:27860917C>A	ENST00000359611.2	-	1	46	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.R4L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTGCTTGCCACGTCCAGACAT	0.572																																						uc003nkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(10-12)CGT>CTT		histone cluster 1, H2am							38.0	39.0	39.0					6																	27860917		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860917C>A	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.11G>T	6.37:g.27860917C>A	ENSP00000352627:p.Arg4Leu					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.R4L	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	47	-			4					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.11G>T	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345825	0.41599	.	.	ENSG00000233224	ENST00000359611	T	0.45276	0.9	3.92	3.92	0.45320	.	0.000000	0.30742	U	0.008976	T	0.55194	0.1905	M	0.80028	2.48	0.36921	D	0.891379	.	.	.	.	.	.	T	0.63989	-0.6512	8	0.87932	D	0	.	15.7198	0.77700	0.0:1.0:0.0:0.0	.	.	.	.	L	4	ENSP00000352627:R4L	ENSP00000352627:R4L	R	-	2	0	HIST1H2AM	27968896	0.949000	0.32298	0.956000	0.39512	0.661000	0.39034	7.270000	0.78493	2.475000	0.83589	0.561000	0.74099	CGT		PASS	0.572	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		13	68	13	68	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054979	29054979	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:29054979C>A	ENST00000377173.2	-	1	111	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16V(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATCTGAGAAGCCAAGTAGTAT	0.393																																						uc003nlx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)GGC>GTC		olfactory receptor, family 2, subfamily B,							76.0	75.0	75.0					6																	29054979		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054979C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.47G>T	6.37:g.29054979C>A	ENSP00000366378:p.Gly16Val						p.G16V	NM_001005226	NP_001005226					1	112	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.47G>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572678	0.28092	.	.	ENSG00000204703	ENST00000377173	T	0.00659	5.94	3.9	3.01	0.34805	.	0.000000	0.41097	U	0.000945	T	0.01421	0.0046	H	0.96691	3.865	0.45914	D	0.998756	P	0.40431	0.717	B	0.42282	0.382	T	0.01814	-1.1268	10	0.72032	D	0.01	.	7.6387	0.28282	0.0:0.7326:0.1687:0.0987	.	16	O76000	OR2B3_HUMAN	V	16	ENSP00000366378:G16V	ENSP00000366378:G16V	G	-	2	0	OR2B3	29162958	0.046000	0.20272	0.998000	0.56505	0.534000	0.34807	1.558000	0.36309	1.696000	0.51158	0.579000	0.79373	GGC		PASS	0.393	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			30	77	30	77	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33393613	33393613	+	Silent	SNP	C	C	T	rs147049139		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:33393613C>T	ENST00000418600.2	+	3	329	c.228C>T	c.(226-228)tcC>tcT	p.S76S	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.S76S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	76					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S76S(1)|p.S61S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGAGCGAGTCCAGTCGCAACA	0.687																																						uc011dri.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(226-228)TCC>TCT		synaptic Ras GTPase activating protein 1		C		0,4406		0,0,2203	54.0	46.0	48.0		228	2.8	1.0	6	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SYNGAP1	NM_006772.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/1344	33393613	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33393613C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.228C>T	6.37:g.33393613C>T						SYNGAP1_uc003oeo.1_Silent_p.S61S|SYNGAP1_uc010juy.2_Silent_p.S61S	p.S76S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			3	423	+			76					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.228C>T	CCDS34434.2																																																																																				PASS	0.687	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		3	31	3	31	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985290	34985290	+	Silent	SNP	G	G	T	rs534984610		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:34985290G>T	ENST00000360359.3	+	11	1602	c.1464G>T	c.(1462-1464)gcG>gcT	p.A488A	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	488					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.A488A(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGACTCTGCGGAGGGGCAGG	0.592																																						uc003ojx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1462-1464)GCG>GCT		ankyrin repeat and sterile alpha motif domain							34.0	41.0	39.0					6																	34985290		2199	4292	6491	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985290G>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1464G>T	6.37:g.34985290G>T						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.A28A|ANKS1A_uc010jvp.1_Intron	p.A488A	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	1606	+			488					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1464G>T	CCDS4798.1																																																																																				PASS	0.592	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		3	60	3	60	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38796023	38796023	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:38796023G>T	ENST00000359357.3	+	28	3750	c.3496G>T	c.(3496-3498)Gat>Tat	p.D1166Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1383Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1166Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1166					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1166Y(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGCAGTTGATACCTTAAG	0.328																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3496-3498)GAT>TAT		dynein, axonemal, heavy polypeptide 8							112.0	113.0	112.0					6																	38796023		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38796023G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3496G>T	6.37:g.38796023G>T	ENSP00000352312:p.Asp1166Tyr						p.D1166Y	NM_001371	NP_001362					28	4096	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3496G>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.117216	0.77323	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27402	1.74;1.74;1.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.71036	2.16	0.80722	D	1	D	0.60160	0.987	P	0.51974	0.686	T	0.20273	-1.0280	10	0.54805	T	0.06	.	17.6309	0.88108	0.0:0.0:1.0:0.0	.	1166	Q96JB1	DYH8_HUMAN	Y	1371;1371;1166;1166	ENSP00000333363:D1371Y;ENSP00000352312:D1166Y;ENSP00000402294:D1166Y	ENSP00000333363:D1371Y	D	+	1	0	DNAH8	38904001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.504000	0.66968	2.687000	0.91594	0.655000	0.94253	GAT		PASS	0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		66	83	66	83	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42712981	42712981	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:42712981G>A	ENST00000372876.1	-	1	853	c.831C>T	c.(829-831)agC>agT	p.S277S	TBCC_ENST00000244625.2_Silent_p.S277S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	277	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S277S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CGATGGCCCTGCTGGTCACCT	0.577																																						uc003osl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)AGC>AGT		beta-tubulin cofactor C							88.0	76.0	80.0					6																	42712981		2203	4300	6503	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42712981G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.831C>T	6.37:g.42712981G>A							p.S277S	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	904	-	Colorectal(47;0.196)		277			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.831C>T	CCDS4872.1																																																																																				PASS	0.577	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		60	86	60	86	---	---	---	---
IL17F	112744	broad.mit.edu	37	6	52109205	52109205	+	Missense_Mutation	SNP	C	C	T	rs533677189		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:52109205C>T	ENST00000336123.4	-	1	130	c.23G>A	c.(22-24)gGc>gAc	p.G8D		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	8					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.G8D(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CATGGCTGGGCCATGCAGGGT	0.453																																						uc003pam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(22-24)GGC>GAC		interleukin 17F precursor							187.0	157.0	167.0					6																	52109205		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52109205C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.23G>A	6.37:g.52109205C>T	ENSP00000337432:p.Gly8Asp						p.G8D	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			1	94	-	Lung NSC(77;0.116)		8					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.23G>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	0.210	-1.036988	0.02013	.	.	ENSG00000112116	ENST00000336123	T	0.40225	1.04	5.19	-9.54	0.00572	.	3.958650	0.00357	N	0.000029	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13150	-1.0520	10	0.08179	T	0.78	2.5781	1.5882	0.02648	0.2136:0.2884:0.3268:0.1712	.	8	Q96PD4	IL17F_HUMAN	D	8	ENSP00000337432:G8D	ENSP00000337432:G8D	G	-	2	0	IL17F	52217164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.072000	0.03434	-1.615000	0.01573	-1.707000	0.00718	GGC		PASS	0.453	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		56	92	56	92	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512471	57512471	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:57512471G>T	ENST00000389488.2	+	14	1386		c.e14-1		PRIM2_ENST00000607273.1_Splice_Site			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTCCTTTACAGGTGGGTGATT	0.318																																						uc003pdx.2																			1	Unknown(1)		lung(1)		0						c.e15-1		DNA primase polypeptide 2							191.0	159.0	169.0					6																	57512471		1918	4131	6049	SO:0001630	splice_region_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512471G>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.1387-1G>T	6.37:g.57512471G>T							p.V434_splice	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1387	+								Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	SNP	ENST00000389488.2	37	c.1300_splice																																																																																					PASS	0.318	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	Intron	17	150	17	150	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75818736	75818736	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:75818736C>A	ENST00000322507.8	-	52	8407	c.8098G>T	c.(8098-8100)Gca>Tca	p.A2700S	COL12A1_ENST00000345356.6_Missense_Mutation_p.A1536S|COL12A1_ENST00000483888.2_Missense_Mutation_p.A2700S|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2700	Laminin G-like.|Nonhelical region (NC3).				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.A2700S(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						TTACTCACTGCGGCTGATTTC	0.313																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8098-8100)GCA>TCA		collagen, type XII, alpha 1 long isoform							105.0	102.0	103.0					6																	75818736		1816	4080	5896	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75818736C>A	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.8098G>T	6.37:g.75818736C>A	ENSP00000325146:p.Ala2700Ser					COL12A1_uc003pht.2_Missense_Mutation_p.A1536S	p.A2700S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			52	8264	-			2700			TSP N-terminal.|Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8098G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	2.329	-0.353885	0.05173	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.02050	4.48;4.48;4.48;4.48	6.06	0.672	0.17935	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.209202	0.47455	D	0.000221	T	0.00384	0.0012	N	0.08118	0	0.09310	N	0.999997	B;B	0.18610	0.029;0.017	B;B	0.24269	0.052;0.012	T	0.40289	-0.9571	10	0.12430	T	0.62	.	7.1952	0.25849	0.0:0.3246:0.1177:0.5577	.	1536;2700	Q99715-2;Q99715	.;COCA1_HUMAN	S	2700;338;1536;2700	ENSP00000325146:A2700S;ENSP00000399812:A338S;ENSP00000305147:A1536S;ENSP00000421216:A2700S	ENSP00000325146:A2700S	A	-	1	0	COL12A1	75875456	0.927000	0.31430	0.991000	0.47740	0.297000	0.27493	1.381000	0.34362	0.184000	0.20083	-0.142000	0.14014	GCA		PASS	0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		67	101	67	101	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79707136	79707136	+	Silent	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:79707136T>A	ENST00000275034.4	-	19	2363	c.2196A>T	c.(2194-2196)gtA>gtT	p.V732V		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	732					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V732V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTACCTGGCTACACCAGCTG	0.463																																						uc003pir.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(2194-2196)GTA>GTT		pleckstrin homology domain interacting protein							142.0	125.0	131.0					6																	79707136		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79707136T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2196A>T	6.37:g.79707136T>A						PHIP_uc011dyp.1_Silent_p.V732V	p.V732V	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	19	2422	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	732					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.2196A>T	CCDS4987.1																																																																																				PASS	0.463	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			40	118	40	118	---	---	---	---
FAM26D	221301	broad.mit.edu	37	6	116879179	116879179	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:116879179G>T	ENST00000368596.3	+	2	794	c.750G>T	c.(748-750)aaG>aaT	p.K250N	FAM26D_ENST00000368597.2_Missense_Mutation_p.K64N|FAM26D_ENST00000416171.2_Missense_Mutation_p.K106N|FAM26D_ENST00000405399.1_Missense_Mutation_p.K107N			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	250					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.K64N(2)		endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GCATAAAGAAGCTATTTGGCT	0.473																																						uc003pxa.2																			2	Substitution - Missense(2)		lung(2)		0						c.(319-321)AAG>AAT		hypothetical protein LOC221301							126.0	126.0	126.0					6																	116879179		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879179G>T	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.750G>T	6.37:g.116879179G>T	ENSP00000357585:p.Lys250Asn					FAM26D_uc003pwz.2_Missense_Mutation_p.K64N|FAM26D_uc010ked.2_Missense_Mutation_p.K106N	p.K107N	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	4	620	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	250					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.321G>T		.	.	.	.	.	.	.	.	.	.	G	9.241	1.038318	0.19669	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.99	-1.3	0.09259	.	0.195108	0.35646	N	0.003070	T	0.07638	0.0192	M	0.66939	2.045	0.29568	N	0.850114	P;P	0.46142	0.873;0.525	P;B	0.45310	0.476;0.25	T	0.32052	-0.9921	10	0.19147	T	0.46	-2.2159	8.6912	0.34267	0.2874:0.1463:0.5663:0.0	.	106;250	B4DTQ0;Q5JW98	.;FA26D_HUMAN	N	106;64;64;107;250	ENSP00000416976:K106N;ENSP00000357586:K64N;ENSP00000409556:K64N;ENSP00000385836:K107N;ENSP00000357585:K250N	ENSP00000357585:K250N	K	+	3	2	FAM26D	116985872	0.968000	0.33430	0.862000	0.33874	0.075000	0.17131	0.290000	0.18975	-0.119000	0.11830	-0.345000	0.07892	AAG		PASS	0.473	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		47	144	47	144	---	---	---	---
HSF2	3298	broad.mit.edu	37	6	122720903	122720903	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:122720903G>T	ENST00000368455.4	+	1	213	c.21G>T	c.(19-21)gtG>gtT	p.V7V	HSF2_ENST00000452194.1_Silent_p.V7V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	7					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V7V(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GTTCGAACGTGCCGGCTTTCC	0.607																																						uc003pyu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)GTG>GTT		heat shock transcription factor 2 isoform a							66.0	64.0	65.0					6																	122720903		2203	4300	6503	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122720903G>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.21G>T	6.37:g.122720903G>T						HSF2_uc003pyt.3_Silent_p.V7V|HSF2_uc003pyv.2_Silent_p.V7V	p.V7V	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	1	208	+			7			By similarity.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.21G>T	CCDS5124.1																																																																																				PASS	0.607	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		16	61	16	61	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123332277	123332277	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:123332277G>C	ENST00000275162.5	+	3	1872	c.537G>C	c.(535-537)atG>atC	p.M179I	CLVS2_ENST00000368438.1_Missense_Mutation_p.M33I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	179	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.M179I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CACCAAGTATGCTGCGATTAG	0.403																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(535-537)ATG>ATC		retinaldehyde binding protein 1-like 2							114.0	99.0	104.0					6																	123332277		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332277G>C	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.537G>C	6.37:g.123332277G>C	ENSP00000275162:p.Met179Ile						p.M179I	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			3	1406	+			179			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.537G>C	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	8.527	0.870049	0.17322	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84146	-1.81;-1.81	5.07	5.07	0.68467	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.078137	0.85682	D	0.000000	T	0.43942	0.1270	N	0.00788	-1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58875	-0.7559	10	0.05436	T	0.98	-0.0132	18.6278	0.91347	0.0:0.0:1.0:0.0	.	179	Q5SYC1	CLVS2_HUMAN	I	179;33	ENSP00000275162:M179I;ENSP00000357423:M33I	ENSP00000275162:M179I	M	+	3	0	CLVS2	123373976	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.578000	0.98200	2.625000	0.88918	0.585000	0.79938	ATG		PASS	0.403	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		52	120	52	120	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152560737	152560737	+	Silent	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:152560737C>G	ENST00000367255.5	-	108	20599	c.19998G>C	c.(19996-19998)ctG>ctC	p.L6666L	SYNE1_ENST00000265368.4_Silent_p.L6666L|SYNE1_ENST00000423061.1_Silent_p.L6595L|SYNE1_ENST00000448038.1_Silent_p.L6595L|SYNE1_ENST00000341594.5_Silent_p.L6278L|SYNE1_ENST00000356820.4_Silent_p.L1190L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6666					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L6666L(2)|p.L6595L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGAGCCATCAGCTCTGTAT	0.463										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19996-19998)CTG>CTC		spectrin repeat containing, nuclear envelope 1							136.0	113.0	120.0					6																	152560737		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152560737C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19998G>C	6.37:g.152560737C>G		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L1190L|SYNE1_uc003qos.3_Silent_p.L1190L|SYNE1_uc003qot.3_Silent_p.L6595L|SYNE1_uc003qou.3_Silent_p.L6666L	p.L6666L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	108	20600	-		Ovarian(120;0.0955)	6666			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.19998G>C	CCDS5236.2																																																																																				PASS	0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		46	133	46	133	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166864710	166864710	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:166864710C>T	ENST00000265678.4	-	13	1310	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V371I|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V274I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V274I|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.V388I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	363	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|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 cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.V363I(1)|p.V371I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTCGGGGGGACGCCAGGAGAG	0.552																																						uc003qvb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1087-1089)GTC>ATC		ribosomal protein S6 kinase, 90kDa, polypeptide							117.0	114.0	115.0					6																	166864710		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166864710C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1087G>A	6.37:g.166864710C>T	ENSP00000265678:p.Val363Ile					RPS6KA2_uc011ego.1_Missense_Mutation_p.V274I|RPS6KA2_uc010kkl.1_Missense_Mutation_p.V274I|RPS6KA2_uc003qvc.1_Missense_Mutation_p.V371I|RPS6KA2_uc003qvd.1_Missense_Mutation_p.V388I	p.V363I	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	13	1306	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	363			AGC-kinase C-terminal.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1087G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.200253	0.01581	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.36	4.36	0.52297	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.153604	0.47852	D	0.000220	T	0.12008	0.0292	N	0.04275	-0.24	0.80722	D	1	B;B;B	0.17852	0.01;0.005;0.024	B;B;B	0.17979	0.006;0.005;0.02	T	0.15549	-1.0433	10	0.10636	T	0.68	.	9.7961	0.40735	0.0:0.9069:0.0:0.0931	.	388;371;363	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	I	363;388;371;274;274	ENSP00000265678:V363I;ENSP00000422435:V388I;ENSP00000427015:V371I;ENSP00000422484:V274I;ENSP00000386050:V274I	ENSP00000265678:V363I	V	-	1	0	RPS6KA2	166784700	0.996000	0.38824	0.027000	0.17364	0.002000	0.02628	3.466000	0.53071	2.278000	0.76064	0.561000	0.74099	GTC		PASS	0.552	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		6	190	6	190	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648983	169648983	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr6:169648983G>T	ENST00000366787.3	-	4	387	c.138C>A	c.(136-138)cgC>cgA	p.R46R		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	46	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R46R(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTCGGGCCCGCGGAACTGCT	0.587																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(136-138)CGC>CGA		thrombospondin 2 precursor							94.0	75.0	81.0					6																	169648983		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648983G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.138C>A	6.37:g.169648983G>T							p.R46R	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	386	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	46			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.138C>A	CCDS34574.1																																																																																				PASS	0.587	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		28	37	28	37	---	---	---	---
UNCX	340260	broad.mit.edu	37	7	1273220	1273220	+	Silent	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:1273220C>A	ENST00000316333.8	+	2	450	c.339C>A	c.(337-339)acC>acA	p.T113T		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	113					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T113T(1)		lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCAACTTCACCGGCTGGCAGC	0.687																																						uc011jvw.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(337-339)ACC>ACA		UNC homeobox							29.0	31.0	30.0					7																	1273220		2189	4289	6478	SO:0001819	synonymous_variant	340260				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1273220C>A		CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.339C>A	7.37:g.1273220C>A							p.T113T	NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	2	339	+		Ovarian(82;0.11)	113			Homeobox.		A4D221	Silent	SNP	ENST00000316333.8	37	c.339C>A	CCDS34583.1																																																																																				PASS	0.687	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324910.2	NM_001080461		22	11	22	11	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29407588	29407588	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:29407588C>G	ENST00000222792.6	+	3	659	c.129C>G	c.(127-129)atC>atG	p.I43M	CHN2_ENST00000435288.2_Missense_Mutation_p.I43M|CHN2_ENST00000546235.1_Missense_Mutation_p.I28M|CHN2_ENST00000539389.1_Missense_Mutation_p.I43M|CHN2_ENST00000495789.2_Missense_Mutation_p.I56M|CHN2_ENST00000539406.1_Missense_Mutation_p.I118M	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	43					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.I43M(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CCAAGAGAATCATTTGTCCTC	0.403																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(127-129)ATC>ATG		beta chimerin isoform 2							121.0	117.0	118.0					7																	29407588		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407588C>G	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.129C>G	7.37:g.29407588C>G	ENSP00000222792:p.Ile43Met					CHN2_uc011jzs.1_Missense_Mutation_p.I118M|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.I56M|CHN2_uc010kvd.2_Missense_Mutation_p.I43M|CHN2_uc011jzu.1_Missense_Mutation_p.I28M	p.I43M	NM_004067	NP_004058	P52757	CHIO_HUMAN			3	566	+			43					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.129C>G	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435096	0.43224	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.71579	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.58;-0.15	5.12	3.31	0.37934	.	0.225855	0.44285	N	0.000475	T	0.72211	0.3432	L	0.47716	1.5	0.80722	D	1	B;P;D;B;P	0.58268	0.209;0.838;0.982;0.254;0.838	B;B;P;B;B	0.59546	0.066;0.367;0.859;0.071;0.202	T	0.70011	-0.4989	10	0.56958	D	0.05	.	5.9082	0.19012	0.1517:0.6847:0.0:0.1636	.	28;56;118;43;43	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	M	118;118;43;43;56;56;43;28	ENSP00000409843:I118M;ENSP00000444063:I118M;ENSP00000222792:I43M;ENSP00000400282:I43M;ENSP00000386968:I56M;ENSP00000438587:I56M;ENSP00000440526:I43M;ENSP00000442812:I28M	ENSP00000222792:I43M	I	+	3	3	CHN2	29374113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.134000	0.42102	0.559000	0.29153	0.585000	0.79938	ATC		PASS	0.403	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		74	72	74	72	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48313492	48313492	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:48313492C>A	ENST00000435803.1	+	17	4253	c.4229C>A	c.(4228-4230)tCc>tAc	p.S1410Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1410					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1355Y(1)|p.S1410Y(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGTCTAACTCCAGTTTTTCA	0.308																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4228-4230)TCC>TAC		ATP binding cassette, sub-family A (ABC1),							45.0	41.0	42.0					7																	48313492		1837	4063	5900	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313492C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4229C>A	7.37:g.48313492C>A	ENSP00000411096:p.Ser1410Tyr					ABCA13_uc010kyr.2_Missense_Mutation_p.S913Y	p.S1410Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4254	+			1410					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4229C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647624	0.14516	.	.	ENSG00000179869	ENST00000435803	D	0.87029	-2.2	5.04	3.18	0.36537	.	0.784513	0.10863	N	0.625855	D	0.85461	0.5702	L	0.56769	1.78	0.20403	N	0.999902	B	0.32693	0.38	B	0.38106	0.265	T	0.74910	-0.3503	9	.	.	.	.	9.7313	0.40363	0.0:0.8259:0.0:0.1741	.	1410	Q86UQ4	ABCAD_HUMAN	Y	1410	ENSP00000411096:S1410Y	.	S	+	2	0	ABCA13	48284038	0.001000	0.12720	0.571000	0.28486	0.081000	0.17604	0.829000	0.27449	1.237000	0.43756	0.462000	0.41574	TCC		PASS	0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	54	6	54	---	---	---	---
TMEM248	55069	broad.mit.edu	37	7	66406997	66406997	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:66406997C>T	ENST00000341567.4	+	2	400	c.145C>T	c.(145-147)Cca>Tca	p.P49S		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	49						integral component of membrane (GO:0016021)		p.P49S(1)									GATTAAATCCCCAGAAATGGC	0.537																																						uc003tvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)CCA>TCA		hypothetical protein LOC55069							101.0	93.0	96.0					7																	66406997		2203	4300	6503	SO:0001583	missense	55069					integral to membrane		g.chr7:66406997C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.145C>T	7.37:g.66406997C>T	ENSP00000340668:p.Pro49Ser					C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.P49S	p.P49S	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN			2	409	+			49					Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.145C>T	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977091	0.92982	.	.	ENSG00000106609	ENST00000341567;ENST00000413593;ENST00000424964;ENST00000418375	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.70317	-0.4905	9	0.62326	D	0.03	-0.7049	18.6238	0.91330	0.0:1.0:0.0:0.0	.	49	Q9NWD8	CG042_HUMAN	S	49	.	ENSP00000340668:P49S	P	+	1	0	C7orf42	66044432	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.481000	0.66826	2.650000	0.89964	0.655000	0.94253	CCA		PASS	0.537	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		26	159	26	159	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72413685	72413685	+	Silent	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:72413685C>G	ENST00000434423.2	+	11	3153	c.3153C>G	c.(3151-3153)gcC>gcG	p.A1051A	POM121_ENST00000358357.3_Silent_p.A786A|POM121_ENST00000446813.1_Silent_p.A786A|POM121_ENST00000257622.4_Silent_p.A786A|POM121_ENST00000395270.1_Silent_p.A786A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1051	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.A786A(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCGCTCCCGCCAGCTCACAGC	0.662																																						uc003twk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3151-3153)GCC>GCG		nuclear pore membrane protein 121							28.0	32.0	31.0					7																	72413685		2202	4293	6495	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413685C>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3153C>G	7.37:g.72413685C>G						POM121_uc003twj.2_Silent_p.A786A|POM121_uc010lam.1_Silent_p.A786A	p.A1051A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3153	+		Lung NSC(55;0.163)	1051			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.3153C>G																																																																																					PASS	0.662	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			8	71	8	71	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	78119141	78119141	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:78119141T>C	ENST00000354212.4	-	6	1235	c.982A>G	c.(982-984)Aca>Gca	p.T328A	MAGI2_ENST00000522391.1_Missense_Mutation_p.T328A|MAGI2_ENST00000536571.1_Missense_Mutation_p.T160A|MAGI2_ENST00000419488.1_Missense_Mutation_p.T328A|MAGI2_ENST00000535697.1_Missense_Mutation_p.T165A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	328	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.T328A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGCCATGATGTTGTCTTTGTG	0.368																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(982-984)ACA>GCA		membrane associated guanylate kinase, WW and PDZ							175.0	176.0	176.0					7																	78119141		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78119141T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.982A>G	7.37:g.78119141T>C	ENSP00000346151:p.Thr328Ala					MAGI2_uc003ugy.2_Missense_Mutation_p.T328A|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Missense_Mutation_p.T160A|MAGI2_uc011kgs.1_Missense_Mutation_p.T165A	p.T328A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			6	1236	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	328			WW 1.|Interaction with DDN.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.982A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538278	0.65085	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.62	5.62	0.85841	WW/Rsp5/WWP (5);	0.000000	0.37437	U	0.002086	D	0.96288	0.8789	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.997	D;D;D;D	0.91635	0.999;0.94;0.999;0.992	D	0.97373	0.9977	10	0.66056	D	0.02	.	15.2951	0.73898	0.0:0.0:0.0:1.0	.	165;160;328;328	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	A	328;328;328;328;160;165	ENSP00000405766:T328A;ENSP00000346151:T328A;ENSP00000428389:T328A;ENSP00000441584:T160A;ENSP00000441603:T165A	ENSP00000346151:T328A	T	-	1	0	MAGI2	77957077	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.218000	0.77991	2.260000	0.74910	0.528000	0.53228	ACA		PASS	0.368	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		114	233	114	233	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81381445	81381445	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:81381445A>G	ENST00000222390.5	-	5	842	c.616T>C	c.(616-618)Tgt>Cgt	p.C206R	HGF_ENST00000423064.2_Missense_Mutation_p.C206R|HGF_ENST00000457544.2_Missense_Mutation_p.C201R|HGF_ENST00000453411.1_Missense_Mutation_p.C201R|HGF_ENST00000444829.2_Missense_Mutation_p.C206R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	206	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.C206R(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTGAACACTGAGGAATG	0.453																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(616-618)TGT>CGT		hepatocyte growth factor isoform 1							137.0	119.0	125.0					7																	81381445		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381445A>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.616T>C	7.37:g.81381445A>G	ENSP00000222390:p.Cys206Arg					HGF_uc003uhm.2_Missense_Mutation_p.C201R|HGF_uc003uhn.1_Missense_Mutation_p.C206R|HGF_uc003uho.1_Missense_Mutation_p.C201R|HGF_uc003uhp.2_Missense_Mutation_p.C206R	p.C206R	NM_000601	NP_000592	P14210	HGF_HUMAN			5	781	-			206			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.616T>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325795	0.81580	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	H	0.98466	4.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.96871	0.9639	10	0.87932	D	0	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	241;201;206;201;206	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	R	206;201;206;201;206;206	ENSP00000222390:C206R;ENSP00000391238:C201R;ENSP00000389854:C206R;ENSP00000408270:C201R;ENSP00000413829:C206R	ENSP00000222390:C206R	C	-	1	0	HGF	81219381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.483000	0.90442	2.323000	0.78572	0.533000	0.62120	TGT		PASS	0.453	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		26	77	26	77	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92731286	92731286	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:92731286T>A	ENST00000379958.2	-	3	4394	c.4125A>T	c.(4123-4125)caA>caT	p.Q1375H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1375						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.Q1375H(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGACAGTGCATTGTTCTAAGA	0.358																																						uc003umf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4123-4125)CAA>CAT		sterile alpha motif domain containing 9							113.0	116.0	115.0					7																	92731286		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92731286T>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4125A>T	7.37:g.92731286T>A	ENSP00000369292:p.Gln1375His					SAMD9_uc003umg.2_Missense_Mutation_p.Q1375H	p.Q1375H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4381	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1375					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4125A>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	0.489	-0.876418	0.02550	.	.	ENSG00000205413	ENST00000379958	T	0.23754	1.89	4.41	-3.09	0.05331	.	0.475842	0.16566	N	0.208833	T	0.12050	0.0293	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.13602	-1.0503	10	0.38643	T	0.18	-0.7066	0.9894	0.01453	0.2617:0.3265:0.1344:0.2774	.	1375	Q5K651	SAMD9_HUMAN	H	1375	ENSP00000369292:Q1375H	ENSP00000369292:Q1375H	Q	-	3	2	SAMD9	92569222	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.066000	0.03454	-0.644000	0.05465	-0.422000	0.05995	CAA		PASS	0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		60	226	60	226	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94047117	94047117	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:94047117G>A	ENST00000297268.6	+	32	2416	c.1945G>A	c.(1945-1947)Ggc>Agc	p.G649S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	649					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G649S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGTGCTGCTGGCATACCTGG	0.517										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1945-1947)GGC>AGC		alpha 2 type I collagen precursor	Collagenase(DB00048)						95.0	71.0	79.0					7																	94047117		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94047117G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1945G>A	7.37:g.94047117G>A	ENSP00000297268:p.Gly649Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA	p.G649S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		32	2416	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		649					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1945G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116794	0.77323	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99329	-5.75	5.54	4.64	0.57946	.	0.051496	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99182	4.46	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.97087	0.9788	10	0.87932	D	0	.	15.8557	0.78977	0.0:0.0:0.8632:0.1368	.	649	P08123	CO1A2_HUMAN	S	649;650	ENSP00000297268:G649S	ENSP00000297268:G649S	G	+	1	0	COL1A2	93885053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	1.440000	0.47531	0.655000	0.94253	GGC		PASS	0.517	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		9	12	9	12	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100246273	100246273	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:100246273G>A	ENST00000160382.5	-	7	681	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	192					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.S192F(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCAGAGGGGACTTGACGAT	0.612																																						uc003uvy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)TCC>TTC		actin-like 6B							71.0	63.0	66.0					7																	100246273		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246273G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.575C>T	7.37:g.100246273G>A	ENSP00000160382:p.Ser192Phe					ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA	p.S192F	NM_016188	NP_057272	O94805	ACL6B_HUMAN			7	682	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		192					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.575C>T	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771481	0.90108	.	.	ENSG00000077080	ENST00000160382	D	0.97553	-4.43	5.35	5.35	0.76521	.	0.086149	0.47455	D	0.000223	D	0.98216	0.9410	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97817	1.0254	10	0.38643	T	0.18	.	16.6023	0.84819	0.0:0.0:1.0:0.0	.	192	O94805	ACL6B_HUMAN	F	192	ENSP00000160382:S192F	ENSP00000160382:S192F	S	-	2	0	ACTL6B	100084209	1.000000	0.71417	0.965000	0.40720	0.972000	0.66771	9.374000	0.97172	2.780000	0.95670	0.655000	0.94253	TCC		PASS	0.612	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		7	41	7	41	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100551236	100551236	+	5'Flank	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:100551236T>A	ENST00000319509.7	+	0	0							Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTCCCAGCCTCAGTTCTTCA	0.507																																						uc003uxk.1																			0													Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							210.0	199.0	202.0					7																	100551236		876	1991	2867	SO:0001631	upstream_gene_variant	0							g.chr7:100551236T>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038		7.37:g.100551236T>A	Exception_encountered					uc003uxl.1_5'UTR								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.487T>A																																																																																					PASS	0.507	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		67	134	67	134	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675095	100675095	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:100675095C>G	ENST00000306151.4	+	3	462	c.398C>G	c.(397-399)aCt>aGt	p.T133S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	133	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T133S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCAGTTCTACTGAAGACACT	0.473																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(397-399)ACT>AGT		mucin 17 precursor							174.0	160.0	165.0					7																	100675095		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675095C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.398C>G	7.37:g.100675095C>G	ENSP00000302716:p.Thr133Ser					MUC17_uc010lho.1_RNA	p.T133S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	451	+	Lung NSC(181;0.136)|all_lung(186;0.182)		133			Extracellular (Potential).|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.398C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.834	-0.469146	0.04445	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.801	0.801	0.18679	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.48864	-0.8997	9	0.07990	T	0.79	.	4.9541	0.14031	0.0:1.0:0.0:0.0	.	133	Q685J3	MUC17_HUMAN	S	133	ENSP00000302716:T133S	ENSP00000302716:T133S	T	+	2	0	MUC17	100461815	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.074000	0.11450	0.727000	0.32360	0.196000	0.17591	ACT		PASS	0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		67	158	67	158	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682506	100682506	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:100682506A>G	ENST00000306151.4	+	3	7873	c.7809A>G	c.(7807-7809)atA>atG	p.I2603M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2603	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.I2603M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCAGCATACCTGTCACCA	0.453																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7807-7809)ATA>ATG		mucin 17 precursor							260.0	261.0	261.0					7																	100682506		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682506A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7809A>G	7.37:g.100682506A>G	ENSP00000302716:p.Ile2603Met					MUC17_uc010lho.1_RNA	p.I2603M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7862	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2603			Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7809A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.871	-0.460348	0.04508	.	.	ENSG00000169876	ENST00000306151	T	0.02140	4.43	0.673	-1.35	0.09114	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.49744	-0.8907	9	0.51188	T	0.08	.	4.6934	0.12791	0.6789:0.3211:0.0:0.0	.	2603	Q685J3	MUC17_HUMAN	M	2603	ENSP00000302716:I2603M	ENSP00000302716:I2603M	I	+	3	3	MUC17	100469226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.672000	0.00843	-0.352000	0.08237	0.113000	0.15668	ATA		PASS	0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		81	431	81	431	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107790506	107790506	+	Missense_Mutation	SNP	A	A	G	rs483352709		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:107790506A>G	ENST00000425651.2	-	30	3763	c.3764T>C	c.(3763-3765)cTa>cCa	p.L1255P	NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379028.3_Missense_Mutation_p.L1255P|NRCAM_ENST00000379024.4_Missense_Mutation_p.L1143P|NRCAM_ENST00000351718.4_Missense_Mutation_p.L1134P|NRCAM_ENST00000413765.2_Missense_Mutation_p.L1131P	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1255					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.L1255P(1)|p.L1134P(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATAGTCAACTAGGCTGTCGTC	0.443																																						uc003vfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(3763-3765)CTA>CCA		neuronal cell adhesion molecule isoform A							220.0	195.0	203.0					7																	107790506		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107790506A>G		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3764T>C	7.37:g.107790506A>G	ENSP00000401244:p.Leu1255Pro					NRCAM_uc003vfc.2_Missense_Mutation_p.L1134P|NRCAM_uc011kmk.1_Missense_Mutation_p.L1157P|NRCAM_uc003vfd.2_Missense_Mutation_p.L1138P|NRCAM_uc003vfe.2_Missense_Mutation_p.L1126P|NRCAM_uc003vez.2_Missense_Mutation_p.L38P|NRCAM_uc003vfa.2_Missense_Mutation_p.L99P|NRCAM_uc011kmj.1_Missense_Mutation_p.L101P	p.L1255P	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			33	4235	-			1255			Cytoplasmic (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3764T>C	CCDS47686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.020774|4.020774	0.75275|0.75275	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651|ENST00000445634	D;D;D;D;D|.	0.92299|.	-3.01;-3.01;-3.01;-3.01;-3.01|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84392|.	0.5462|.	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0;1.0;0.999;0.998|.	D|.	0.86984|.	0.2106|.	10|.	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1259;101;1131;1143;1134;1255;38|.	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2|.	.;.;.;.;.;NRCAM_HUMAN;.|.	P|Q	1259;1255;1131;99;1134;1143;1255|154	ENSP00000368314:L1255P;ENSP00000407858:L1131P;ENSP00000325269:L1134P;ENSP00000368310:L1143P;ENSP00000401244:L1255P|.	ENSP00000325269:L1134P|.	L|X	-|-	2|1	0|0	NRCAM|NRCAM	107577742|107577742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTA|TAG		PASS	0.443	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		112	267	112	267	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122033627	122033627	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:122033627C>A	ENST00000449022.2	-	21	2775	c.2756G>T	c.(2755-2757)tGt>tTt	p.C919F	RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.C917F|CADPS2_ENST00000412584.2_Missense_Mutation_p.C913F|CADPS2_ENST00000313070.7_Missense_Mutation_p.C913F	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	919	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.C916F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTTCCATTACACAAAAGTGC	0.403																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2755-2757)TGT>TTT		Ca2+-dependent activator protein for secretion 2							60.0	57.0	58.0					7																	122033627		1862	4104	5966	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033627C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2756G>T	7.37:g.122033627C>A	ENSP00000398481:p.Cys919Phe					CADPS2_uc011knx.1_Missense_Mutation_p.C294F|CADPS2_uc003vkg.3_Missense_Mutation_p.C613F|CADPS2_uc010lkq.2_Missense_Mutation_p.C913F	p.C919F	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			20	2919	-			919			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2756G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.505088|3.505088	0.64410|0.64410	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	T;T;T;T|.	0.33654|.	1.4;1.4;1.4;1.4|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Munc13 homology 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70072|0.70072	0.3182|0.3182	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.69078|.	0.997;0.825;0.997;0.994|.	P;B;P;D|.	0.65010|.	0.876;0.443;0.866;0.931|.	T|T	0.64972|0.64972	-0.6281|-0.6281	10|5	0.59425|.	D|.	0.04|.	-13.4059|-13.4059	19.8046|19.8046	0.96525|0.96525	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	923;913;919;913|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	F|L	92;913;917;924;880;913;919|113	ENSP00000325581:C913F;ENSP00000333940:C917F;ENSP00000400401:C913F;ENSP00000398481:C919F|.	ENSP00000325581:C913F|.	C|V	-|-	2|1	0|0	CADPS2|CADPS2	121820863|121820863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.049000|6.049000	0.71053|0.71053	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	TGT|GTA		PASS	0.403	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		20	77	20	77	---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122341945	122341945	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:122341945G>C	ENST00000434824.1	-	1	1076	c.860C>G	c.(859-861)cCc>cGc	p.P287R	CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000334010.7_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	287						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.P287R(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TAAAAGCCAGGGGTCAATGCA	0.393																																						uc003vkk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(859-861)CCC>CGC		ring finger protein 148 precursor							135.0	127.0	129.0					7																	122341945		1892	4129	6021	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122341945G>C	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.860C>G	7.37:g.122341945G>C	ENSP00000388207:p.Pro287Arg					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	p.P287R	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	1077	-			287			RING-type; atypical.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.860C>G	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287927	0.59976	.	.	ENSG00000235631	ENST00000434824	T	0.39229	1.09	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	.	.	.	.	T	0.48352	0.1495	N	0.17248	0.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52208	-0.8606	9	0.62326	D	0.03	.	13.7769	0.63059	0.0:0.1535:0.8465:0.0	.	287	Q8N7C7	RN148_HUMAN	R	287	ENSP00000388207:P287R	ENSP00000388207:P287R	P	-	2	0	RNF148	122129181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.580000	0.87095	0.655000	0.94253	CCC		PASS	0.393	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		62	112	62	112	---	---	---	---
ZC3HAV1L	92092	broad.mit.edu	37	7	138711516	138711516	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:138711516C>A	ENST00000275766.1	-	4	835	c.824G>T	c.(823-825)gGa>gTa	p.G275V		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	275								p.G275V(1)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTCTGCAGCTCCAGCTGCGTG	0.507																																						uc003vum.1																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GGA>GTA		zinc finger CCCH-type, antiviral 1-like							75.0	80.0	78.0					7																	138711516		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138711516C>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.824G>T	7.37:g.138711516C>A	ENSP00000275766:p.Gly275Val						p.G275V	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			4	836	-			275					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.824G>T	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632977	0.47049	.	.	ENSG00000146858	ENST00000275766	T	0.30714	1.52	3.84	3.84	0.44239	.	0.160855	0.29760	N	0.011261	T	0.30885	0.0779	L	0.27053	0.805	0.21020	N	0.999803	P	0.50272	0.933	P	0.52267	0.694	T	0.06917	-1.0800	10	0.52906	T	0.07	.	11.5761	0.50862	0.0:1.0:0.0:0.0	.	275	Q96H79	ZCCHL_HUMAN	V	275	ENSP00000275766:G275V	ENSP00000275766:G275V	G	-	2	0	ZC3HAV1L	138362056	0.005000	0.15991	0.008000	0.14137	0.012000	0.07955	0.885000	0.28227	2.431000	0.82371	0.561000	0.74099	GGA		PASS	0.507	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		33	121	33	121	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138822649	138822649	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:138822649T>C	ENST00000464848.1	+	3	278	c.198T>C	c.(196-198)tgT>tgC	p.C66C	TTC26_ENST00000474035.2_Silent_p.C66C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Silent_p.C66C|TTC26_ENST00000478836.2_Silent_p.C66C|TTC26_ENST00000430935.1_Silent_p.C66C|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	66					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.C66C(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTGGATATTGTGCCTTTCACC	0.308																																						uc003vus.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(196-198)TGT>TGC		tetratricopeptide repeat domain 26 isoform 1							153.0	152.0	152.0					7																	138822649		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138822649T>C	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.198T>C	7.37:g.138822649T>C						TTC26_uc003vuq.2_Silent_p.C66C|TTC26_uc011kqm.1_Silent_p.C66C|TTC26_uc003vur.3_Silent_p.C66C|TTC26_uc011kqn.1_Silent_p.C66C|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Silent_p.C66C	p.C66C	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			3	312	+			66			TPR 1.		A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.198T>C	CCDS5852.1																																																																																				PASS	0.308	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		39	150	39	150	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142606744	142606744	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:142606744T>A	ENST00000265310.1	-	14	2155	c.1807A>T	c.(1807-1809)Atg>Ttg	p.M603L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	603					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.M603L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCTCCAGCATCACTGTGGTG	0.597																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1807-1809)ATG>TTG		transient receptor potential cation channel,							56.0	50.0	52.0					7																	142606744		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606744T>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1807A>T	7.37:g.142606744T>A	ENSP00000265310:p.Met603Leu						p.M603L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2071	-	Melanoma(164;0.059)		603			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1807A>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663610	0.29515	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80123	-1.33;-1.34	4.79	2.34	0.29019	.	0.044169	0.85682	N	0.000000	T	0.74076	0.3669	M	0.66506	2.035	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.64193	-0.6465	10	0.29301	T	0.29	-17.4531	7.0064	0.24838	0.0:0.0784:0.1494:0.7722	.	603	Q9NQA5	TRPV5_HUMAN	L	603;548	ENSP00000265310:M603L;ENSP00000406361:M548L	ENSP00000265310:M603L	M	-	1	0	TRPV5	142316866	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.402000	0.44521	0.406000	0.25560	-0.256000	0.11100	ATG		PASS	0.597	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		12	40	12	40	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147675073	147675073	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:147675073A>G	ENST00000361727.3	+	15	2891	c.2375A>G	c.(2374-2376)cAa>cGa	p.Q792R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	792	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q792R(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGCGCTGCCAAGGAGACAGT	0.473										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2374-2376)CAA>CGA		cell recognition molecule Caspr2 precursor							117.0	99.0	105.0					7																	147675073		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147675073A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2375A>G	7.37:g.147675073A>G	ENSP00000354778:p.Gln792Arg	HNSCC(39;0.1)					p.Q792R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		15	2891	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	792			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2375A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053368	0.36181	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13657	2.57;2.57	5.6	5.6	0.85130	.	0.066785	0.64402	D	0.000008	T	0.09291	0.0229	N	0.13371	0.34	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24977	-1.0145	10	0.24483	T	0.36	.	14.6228	0.68599	1.0:0.0:0.0:0.0	.	792	Q9UHC6	CNTP2_HUMAN	R	792;183	ENSP00000354778:Q792R;ENSP00000392208:Q183R	ENSP00000354778:Q792R	Q	+	2	0	CNTNAP2	147306006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.768000	0.91737	2.133000	0.65898	0.533000	0.62120	CAA		PASS	0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			43	81	43	81	---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148485762	148485762	+	Silent	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:148485762A>G	ENST00000325222.4	+	14	1872	c.1593A>G	c.(1591-1593)ctA>ctG	p.L531L	CUL1_ENST00000409469.1_Silent_p.L531L|CUL1_ENST00000602748.1_Silent_p.L531L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.L531L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGAACCCCTAGACTGTGAGT	0.428																																						uc010lpg.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1591-1593)CTA>CTG		cullin 1							130.0	121.0	124.0					7																	148485762		2203	4300	6503	SO:0001819	synonymous_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148485762A>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1593A>G	7.37:g.148485762A>G						CUL1_uc003wey.2_Silent_p.L531L|CUL1_uc003wez.2_Silent_p.L421L|CUL1_uc003wfa.2_Silent_p.L192L	p.L531L	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		14	2119	+	Melanoma(164;0.15)		531					D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	c.1593A>G	CCDS34772.1																																																																																				PASS	0.428	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		26	163	26	163	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876570	148876570	+	Missense_Mutation	SNP	G	G	C	rs200439453		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:148876570G>C	ENST00000475153.1	+	6	1873	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	ZNF398_ENST00000491174.1_Missense_Mutation_p.E365Q|ZNF398_ENST00000420008.2_Missense_Mutation_p.E365Q|ZNF398_ENST00000426851.2_Missense_Mutation_p.E365Q|ZNF398_ENST00000483892.1_Missense_Mutation_p.E365Q|ZNF398_ENST00000335901.4_Missense_Mutation_p.E365Q|ZNF398_ENST00000540950.1_Missense_Mutation_p.E541Q			Q8TD17	ZN398_HUMAN	zinc finger protein 398	536					positive regulation of transcription, DNA-templated (GO:0045893)|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.E536Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCACACAGGCGAGCGGCCCTT	0.612																																						uc003wfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1606-1608)GAG>CAG		zinc finger 398 isoform a							70.0	63.0	65.0					7																	148876570		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876570G>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1606G>C	7.37:g.148876570G>C	ENSP00000420418:p.Glu536Gln					ZNF398_uc011kul.1_Missense_Mutation_p.E365Q|ZNF398_uc011kum.1_Missense_Mutation_p.E541Q	p.E536Q	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1881	+	Melanoma(164;0.15)		536					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.1606G>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705049	0.68615	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.26	5.26	0.73747	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000093	T	0.49932	0.1586	M	0.67517	2.055	0.39903	D	0.973923	D;D	0.89917	1.0;0.983	D;P	0.73380	0.98;0.863	T	0.54403	-0.8299	10	0.87932	D	0	-25.5296	16.3707	0.83357	0.0:0.0:1.0:0.0	.	541;536	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	365;365;536;365;365;541;365	ENSP00000389972:E365Q;ENSP00000416751:E365Q;ENSP00000420418:E536Q;ENSP00000418564:E365Q;ENSP00000419391:E365Q;ENSP00000439340:E541Q;ENSP00000338984:E365Q	ENSP00000338984:E365Q	E	+	1	0	ZNF398	148507503	1.000000	0.71417	0.978000	0.43139	0.645000	0.38454	5.420000	0.66441	2.458000	0.83093	0.655000	0.94253	GAG		PASS	0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			18	40	18	40	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150164377	150164377	+	Silent	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:150164377A>T	ENST00000307271.3	+	2	1165	c.591A>T	c.(589-591)ggA>ggT	p.G197G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	197	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G197G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATACGAACGGAGGACCCTATC	0.418																																						uc003whj.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(589-591)GGA>GGT		GTPase, IMAP family member 8							95.0	87.0	90.0					7																	150164377		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164377A>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.591A>T	7.37:g.150164377A>T							p.G197G	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	921	+			197						Silent	SNP	ENST00000307271.3	37	c.591A>T	CCDS34777.1																																																																																				PASS	0.418	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		57	127	57	127	---	---	---	---
GIMAP2	26157	broad.mit.edu	37	7	150389846	150389846	+	Missense_Mutation	SNP	G	G	C	rs267601409		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:150389846G>C	ENST00000223293.5	+	3	566	c.472G>C	c.(472-474)Gat>Cat	p.D158H		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	158	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.D158H(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGATGGATTACATGCA	0.512																																						uc003who.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(472-474)GAT>CAT		GTPase, IMAP family member 2							85.0	62.0	70.0					7																	150389846		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389846G>C	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.472G>C	7.37:g.150389846G>C	ENSP00000223293:p.Asp158His					GIMAP1_uc003whp.2_Intron	p.D158H	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	560	+			158					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.472G>C	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222277	0.39300	.	.	ENSG00000106560	ENST00000223293	T	0.09073	3.02	3.9	3.9	0.45041	AIG1 (1);	0.129924	0.49916	D	0.000124	T	0.12050	0.0293	M	0.73319	2.225	0.80722	D	1	B	0.24317	0.101	B	0.22880	0.042	T	0.03202	-1.1061	10	0.72032	D	0.01	.	11.5622	0.50782	0.0:0.0:1.0:0.0	.	158	Q9UG22	GIMA2_HUMAN	H	158	ENSP00000223293:D158H	ENSP00000223293:D158H	D	+	1	0	GIMAP2	150020779	0.268000	0.24133	0.025000	0.17156	0.086000	0.17979	1.076000	0.30729	2.196000	0.70406	0.609000	0.83330	GAT		PASS	0.512	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		26	66	26	66	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150556022	150556022	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:150556022G>T	ENST00000493429.1	+	5	2326	c.1742G>T	c.(1741-1743)aGc>aTc	p.S581I	AOC1_ENST00000467291.1_Missense_Mutation_p.S581I|AOC1_ENST00000360937.4_Missense_Mutation_p.S581I|AOC1_ENST00000416793.2_Missense_Mutation_p.S581I|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	581					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.S581I(1)								Amiloride(DB00594)	CTCTTTACCAGCCCCCAGGAG	0.657																																						uc003why.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1741-1743)AGC>ATC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						17.0	20.0	19.0					7																	150556022		1884	4103	5987	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150556022G>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1742G>T	7.37:g.150556022G>T	ENSP00000418614:p.Ser581Ile					ABP1_uc003whz.1_Missense_Mutation_p.S581I|ABP1_uc003wia.1_Missense_Mutation_p.S581I	p.S581I	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	5960	+	all_neural(206;0.219)		581					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1742G>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616504	0.46736	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.57	2.81	0.32909	Copper amine oxidase, C-terminal (3);	0.121924	0.85682	D	0.000000	T	0.18593	0.0446	M	0.83223	2.63	0.43355	D	0.995424	D;D	0.89917	0.999;1.0	D;D	0.97110	0.989;1.0	T	0.00248	-1.1880	10	0.66056	D	0.02	-1.2331	6.5216	0.22279	0.3563:0.0:0.6437:0.0	.	581;581	C9J690;P19801	.;ABP1_HUMAN	I	581;581;581;107;581;457	ENSP00000418614:S581I;ENSP00000418328:S581I;ENSP00000354193:S581I;ENSP00000411613:S581I	ENSP00000354193:S581I	S	+	2	0	ABP1	150186955	0.995000	0.38212	0.259000	0.24435	0.235000	0.25334	1.368000	0.34216	0.727000	0.32360	0.561000	0.74099	AGC		PASS	0.657	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		6	13	6	13	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154263965	154263965	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:154263965T>C	ENST00000377770.3	+	5	732	c.591T>C	c.(589-591)gaT>gaC	p.D197D	DPP6_ENST00000332007.3_Silent_p.D135D|DPP6_ENST00000404039.1_Silent_p.D133D|DPP6_ENST00000427557.1_Silent_p.D135D|DPP6_ENST00000406326.1_Silent_p.D197D|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	197					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D197D(2)|p.D135D(1)|p.D133D(1)|p.D133E(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TATCTCCAGATAGAGAGTATG	0.284																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			5	Substitution - coding silent(4)|Substitution - Missense(1)		lung(4)|NS(1)	pancreas(3)|breast(1)	4						c.(589-591)GAT>GAC		dipeptidyl-peptidase 6 isoform 1							79.0	80.0	80.0					7																	154263965		1796	4063	5859	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154263965T>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.591T>C	7.37:g.154263965T>C						DPP6_uc003wli.2_Silent_p.D133D|DPP6_uc003wlj.2_Silent_p.D197D|DPP6_uc003wlm.2_Silent_p.D135D|DPP6_uc011kvq.1_Silent_p.D135D	p.D197D	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		5	720	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	197			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.591T>C																																																																																					PASS	0.284	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		17	61	17	61	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158449109	158449109	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr7:158449109T>A	ENST00000409423.1	-	20	2403	c.2231A>T	c.(2230-2232)aAa>aTa	p.K744I	NCAPG2_ENST00000449727.2_Missense_Mutation_p.K744I|NCAPG2_ENST00000409339.3_Missense_Mutation_p.K744I|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K744I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.K245I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.K536I	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	744					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.K744I(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CACCCTACCTTTAGAAGCTGT	0.433																																						uc003wnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(2230-2232)AAA>ATA		leucine zipper protein 5							130.0	129.0	130.0					7																	158449109		1955	4152	6107	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158449109T>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2231A>T	7.37:g.158449109T>A	ENSP00000386569:p.Lys744Ile					NCAPG2_uc010lqu.1_Missense_Mutation_p.K536I|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.K744I|NCAPG2_uc011kwe.1_Missense_Mutation_p.K744I|NCAPG2_uc011kwc.1_Missense_Mutation_p.K245I|NCAPG2_uc011kwd.1_Missense_Mutation_p.K187I	p.K744I	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	19	2376	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	744					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2231A>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.62|11.62	1.691947|1.691947	0.30052|0.30052	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27;1.27|.	5.91|5.91	2.13|2.13	0.27403|0.27403	.|.	0.475908|0.475908	0.25394|0.25394	N|N	0.030987|0.030987	T|.	0.40448|.	0.1117|.	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	P;D;P;P|.	0.57899|.	0.666;0.981;0.876;0.714|.	B;P;P;B|.	0.56088|.	0.294;0.791;0.454;0.418|.	T|.	0.21280|.	-1.0250|.	10|.	0.59425|.	D|.	0.04|.	-25.8263|-25.8263	5.5325|5.5325	0.16993|0.16993	0.1177:0.1987:0.0:0.6836|0.1177:0.1987:0.0:0.6836	.|.	744;187;536;744|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	I|X	245;744;744;536;744;187;744|546	ENSP00000442337:K245I;ENSP00000348657:K744I;ENSP00000386569:K744I;ENSP00000275830:K536I;ENSP00000387007:K744I;ENSP00000388326:K744I|.	ENSP00000275830:K536I|.	K|K	-|-	2|1	0|0	NCAPG2|NCAPG2	158141870|158141870	0.261000|0.261000	0.24063|0.24063	0.008000|0.008000	0.14137|0.14137	0.025000|0.025000	0.11179|0.11179	1.047000|1.047000	0.30367|0.30367	0.509000|0.509000	0.28195|0.28195	0.533000|0.533000	0.62120|0.62120	AAA|AAG		PASS	0.433	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		30	157	30	157	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3008986	3008986	+	Silent	SNP	G	G	T	rs374487863		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:3008986G>T	ENST00000520002.1	-	41	6522	c.5967C>A	c.(5965-5967)ccC>ccA	p.P1989P	CSMD1_ENST00000539096.1_Silent_p.P1988P|CSMD1_ENST00000537824.1_Silent_p.P1988P|CSMD1_ENST00000602723.1_Silent_p.P1989P|CSMD1_ENST00000400186.3_Silent_p.P1989P|CSMD1_ENST00000542608.1_Silent_p.P1988P|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.P1989P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1989	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P1988P(1)|p.P1717P(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGGAAGCCGGGGCTCAGGA	0.512																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(5965-5967)CCC>CCA		CUB and Sushi multiple domains 1 precursor							80.0	89.0	86.0					8																	3008986		2101	4253	6354	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3008986G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5967C>A	8.37:g.3008986G>T						CSMD1_uc011kwj.1_Silent_p.P1381P|CSMD1_uc003wqe.2_Silent_p.P1145P|CSMD1_uc010lrg.2_Silent_p.P57P	p.P1989P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	40	6357	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1989			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.5967C>A																																																																																					PASS	0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	20	5	20	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25744281	25744281	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:25744281G>A	ENST00000520164.1	-	10	1536	c.999C>T	c.(997-999)ttC>ttT	p.F333F	EBF2_ENST00000535548.1_Silent_p.F64F|EBF2_ENST00000408929.3_Silent_p.F185F	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	333	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F333F(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGTGTAAATGAACCTTCCTG	0.478																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(997-999)TTC>TTT		early B-cell factor 2							95.0	93.0	94.0					8																	25744281		1859	4099	5958	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25744281G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.999C>T	8.37:g.25744281G>A						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.F333F	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	10	1016	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	333			IPT/TIG.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.999C>T	CCDS43726.1																																																																																				PASS	0.478	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		47	64	47	64	---	---	---	---
STAR	6770	broad.mit.edu	37	8	38008285	38008285	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:38008285G>A	ENST00000276449.4	-	1	498	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	18					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.R18C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TTCATGTTGCGCATGTGTCTG	0.602																																						uc003xkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)CGC>TGC		steroidogenic acute regulatory protein isoform							112.0	102.0	106.0					8																	38008285		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38008285G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.52C>T	8.37:g.38008285G>A	ENSP00000276449:p.Arg18Cys					STAR_uc010lwc.1_Missense_Mutation_p.R18C	p.R18C	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	1	316	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	18					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.52C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983980	0.93044	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.89875	-2.58	5.2	5.2	0.72013	.	0.093785	0.64402	D	0.000001	D	0.94185	0.8134	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63033	0.863;0.91	D	0.94895	0.8051	10	0.87932	D	0	-9.0891	18.3477	0.90327	0.0:0.0:1.0:0.0	.	18;18	E7ETA9;P49675	.;STAR_HUMAN	C	18	ENSP00000276449:R18C	ENSP00000276449:R18C	R	-	1	0	STAR	38127442	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.471000	0.53107	2.418000	0.82041	0.555000	0.69702	CGC		PASS	0.602	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		4	127	4	127	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48719888	48719888	+	Splice_Site	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:48719888C>T	ENST00000523565.1	-	69	9613		c.e69-1		PRKDC_ENST00000314191.2_Splice_Site|Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAAGAAACATCTACACAAAGA	0.393								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Unknown(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.e70-1	NHEJ	protein kinase, DNA-activated, catalytic							117.0	111.0	113.0					8																	48719888		1856	4103	5959	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48719888C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.3896-1G>A	8.37:g.48719888C>T						PRKDC_uc003xqj.2_Splice_Site_p.R3186_splice|PRKDC_uc011ldh.1_Intron	p.R3186_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN			70	9615	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)						P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37	c.9558_splice		.	.	.	.	.	.	.	.	.	.	C	28.4	4.913548	0.92178	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48882441	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	7.097000	0.76967	2.774000	0.95407	0.655000	0.94253	.		PASS	0.393	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	63	122	63	122	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77620259	77620259	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:77620259C>T	ENST00000521891.2	+	3	3517	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.H997H|ZFHX4_ENST00000518282.1_Silent_p.H997H|ZFHX4_ENST00000455469.2_Silent_p.H997H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	997					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.H1023H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCACAGGCACGAGGCGGCCC	0.468										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2989-2991)CAC>CAT		zinc finger homeodomain 4							97.0	97.0	97.0					8																	77620259		1997	4162	6159	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77620259C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3069C>T	8.37:g.77620259C>T		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.H997H|ZFHX4_uc003yau.1_Silent_p.H1023H|ZFHX4_uc003yaw.1_Silent_p.H997H	p.H997H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3378	+			997					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2991C>T	CCDS47878.2																																																																																				PASS	0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	120	20	120	---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82196169	82196169	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:82196169G>T	ENST00000297258.6	+	3	547	c.314G>T	c.(313-315)aGc>aTc	p.S105I	FABP5_ENST00000396359.1_Missense_Mutation_p.S71I|RP11-363E6.3_ENST00000518880.1_RNA	NM_001444.2	NP_001435.1	Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	105					epidermis development (GO:0008544)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|response to wounding (GO:0009611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	fatty acid binding (GO:0005504)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.S105I(1)		large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GGGAAGGAAAGCACAATAACA	0.398																																						uc003yca.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AGC>ATC		fatty acid binding protein 5							149.0	116.0	127.0					8																	82196169		2203	4298	6501	SO:0001583	missense	2171				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity	g.chr8:82196169G>T	M94856	CCDS6228.1	8q21.13	2013-03-01			ENSG00000164687	ENSG00000164687		"""Fatty acid binding protein family"""	3560	protein-coding gene	gene with protein product		605168				1512466	Standard	NM_001444		Approved	E-FABP, PA-FABP, KFABP	uc003yca.2	Q01469	OTTHUMG00000134313	ENST00000297258.6:c.314G>T	8.37:g.82196169G>T	ENSP00000297258:p.Ser105Ile						p.S105I	NM_001444	NP_001435	Q01469	FABP5_HUMAN	Epithelial(68;0.102)		3	362	+	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		105					B2R4K0	Missense_Mutation	SNP	ENST00000297258.6	37	c.314G>T	CCDS6228.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315588	0.81469	.	.	ENSG00000164687	ENST00000297258;ENST00000396359	T;T	0.08546	3.08;3.08	5.51	5.51	0.81932	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.133957	0.64402	D	0.000003	T	0.27933	0.0688	M	0.81942	2.565	0.51767	D	0.999931	P	0.50443	0.935	P	0.61070	0.883	T	0.00626	-1.1638	10	0.72032	D	0.01	.	13.7699	0.63018	0.0:0.2739:0.7261:0.0	.	105	Q01469	FABP5_HUMAN	I	105;71	ENSP00000297258:S105I;ENSP00000379647:S71I	ENSP00000297258:S105I	S	+	2	0	FABP5	82358724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.455000	0.66658	2.591000	0.87537	0.650000	0.86243	AGC		PASS	0.398	FABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259329.1	NM_001444		7	37	7	37	---	---	---	---
PDP1	54704	broad.mit.edu	37	8	94934294	94934294	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:94934294G>T	ENST00000297598.4	+	2	276	c.7G>T	c.(7-9)Gca>Tca	p.A3S	PDP1_ENST00000517764.1_Missense_Mutation_p.A3S|PDP1_ENST00000520728.1_Missense_Mutation_p.A3S|PDP1_ENST00000396200.3_Missense_Mutation_p.A28S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	3					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A3S(1)|p.A28S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGCCATGCCAGCACCAACTCA	0.458																																						uc003yge.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(7-9)GCA>TCA		pyruvate dehyrogenase phosphatase catalytic							147.0	139.0	142.0					8																	94934294		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934294G>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.7G>T	8.37:g.94934294G>T	ENSP00000297598:p.Ala3Ser					PDP1_uc003ygf.2_Missense_Mutation_p.A28S|PDP1_uc010max.2_Missense_Mutation_p.A28S|PDP1_uc011lgm.1_Missense_Mutation_p.A3S|PDP1_uc011lgn.1_Missense_Mutation_p.A62S	p.A3S	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	276	+			3					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.7G>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378043	0.61735	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.48522	0.85;0.85;0.81;0.85	6.16	5.27	0.74061	.	0.364740	0.27270	N	0.020136	T	0.44414	0.1292	L	0.44542	1.39	0.37956	D	0.932824	B;B	0.25667	0.131;0.015	B;B	0.21917	0.037;0.007	T	0.46898	-0.9158	10	0.66056	D	0.02	-2.0815	17.4014	0.87460	0.0:0.1247:0.8753:0.0	.	54;3	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	3;3;3;3;28;3;3;3;3	ENSP00000297598:A3S;ENSP00000428317:A3S;ENSP00000379503:A28S;ENSP00000430380:A3S	ENSP00000297598:A3S	A	+	1	0	PDP1	95003470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.557000	0.60782	1.582000	0.49881	0.650000	0.86243	GCA		PASS	0.458	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		20	124	20	124	---	---	---	---
RAD54B	25788	broad.mit.edu	37	8	95412502	95412502	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:95412502T>C	ENST00000336148.5	-	7	1258	c.1134A>G	c.(1132-1134)ctA>ctG	p.L378L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	378	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.L378L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTCACTTCCTAGCCATTTTT	0.338								Direct reversal of damage;Homologous recombination																														uc003ygk.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(1132-1134)CTA>CTG	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							86.0	85.0	85.0					8																	95412502		2203	4299	6502	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412502T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1134A>G	8.37:g.95412502T>C						RAD54B_uc010may.1_Silent_p.L185L|RAD54B_uc003ygl.1_RNA	p.L378L	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1232	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1134A>G	CCDS6262.1																																																																																				PASS	0.338	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		34	104	34	104	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104928746	104928746	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:104928746G>T	ENST00000436393.2	+	6	1592	c.1351G>T	c.(1351-1353)Gta>Tta	p.V451L	RIMS2_ENST00000262231.10_Missense_Mutation_p.V528L|RIMS2_ENST00000507740.1_Missense_Mutation_p.V481L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V673L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	751					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.V481L(2)|p.V451L(1)|p.V673L(1)|p.V756L(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)			AGTAGAACTTGTAGTTTCAAG	0.348										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1351-1353)GTA>TTA		regulating synaptic membrane exocytosis 2							123.0	117.0	119.0					8																	104928746		1858	4101	5959	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104928746G>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.1351G>T	8.37:g.104928746G>T	ENSP00000390665:p.Val451Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.V673L|RIMS2_uc003ylw.2_Missense_Mutation_p.V481L|RIMS2_uc003ylq.2_Missense_Mutation_p.V481L|RIMS2_uc003ylr.2_Missense_Mutation_p.V528L|RIMS2_uc003ylt.2_Missense_Mutation_p.V74L|RIMS2_uc003ylu.1_Missense_Mutation_p.V64L|RIMS2_uc003ylv.1_Missense_Mutation_p.V64L	p.V451L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		6	1592	+			751			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1351G>T		.	.	.	.	.	.	.	.	.	.	G	15.06	2.721272	0.48728	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.20820	0.0501	N	0.17922	0.545	0.80722	D	1	B;B;B;B;B;B	0.15719	0.014;0.0;0.004;0.005;0.001;0.004	B;B;B;B;B;B	0.24394	0.035;0.005;0.053;0.031;0.009;0.012	T	0.03000	-1.1084	9	0.62326	D	0.03	.	15.2044	0.73165	0.0:0.0:0.8593:0.1407	.	751;751;451;528;481;673	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	L	673;704;673;751;64;481;528;481;481;451	ENSP00000427018:V673L;ENSP00000384892:V673L;ENSP00000425205:V481L;ENSP00000262231:V528L;ENSP00000423559:V481L;ENSP00000386228:V481L;ENSP00000390665:V451L	ENSP00000262231:V528L	V	+	1	0	RIMS2	104997922	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.583000	0.60964	2.835000	0.97688	0.650000	0.86243	GTA		PASS	0.348	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	151	6	151	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110447466	110447466	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:110447466C>G	ENST00000378402.5	+	29	3492	c.3388C>G	c.(3388-3390)Ccc>Gcc	p.P1130A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1130	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1132A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGACATGCCCCCGTTGCTGT	0.413										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3388-3390)CCC>GCC		fibrocystin L precursor							169.0	167.0	167.0					8																	110447466		1853	4117	5970	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110447466C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3388C>G	8.37:g.110447466C>G	ENSP00000367655:p.Pro1130Ala	HNSCC(38;0.096)					p.P1130A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		29	3492	+			1130			Extracellular (Potential).|IPT/TIG 4.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3388C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	2.426	-0.331940	0.05314	.	.	ENSG00000205038	ENST00000378402	T	0.76709	-1.04	6.07	6.07	0.98685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.127085	0.53938	D	0.000054	T	0.71771	0.3379	L	0.49778	1.585	0.18873	N	0.999983	B	0.16396	0.017	B	0.21360	0.034	T	0.54820	-0.8236	10	0.10111	T	0.7	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	1130	Q86WI1	PKHL1_HUMAN	A	1130	ENSP00000367655:P1130A	ENSP00000367655:P1130A	P	+	1	0	PKHD1L1	110516642	0.687000	0.27671	0.032000	0.17829	0.007000	0.05969	3.858000	0.55979	2.885000	0.99019	0.655000	0.94253	CCC		PASS	0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		86	208	86	208	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120431546	120431546	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:120431546G>A	ENST00000259526.3	+	4	965	c.738G>A	c.(736-738)gtG>gtA	p.V246V	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	1566	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.V246V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TCTGCATGGTGCGGCCCTGTG	0.562																																						uc003yoq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(736-738)GTG>GTA		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						112.0	106.0	108.0					8																	120431546		2203	4300	6503	SO:0001819	synonymous_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120431546G>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.738G>A	8.37:g.120431546G>A							p.V246V	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		4	959	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		246			TSP type-1.			Silent	SNP	ENST00000259526.3	37	c.738G>A	CCDS6328.1																																																																																				PASS	0.562	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		18	164	18	164	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131812707	131812707	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:131812707G>A	ENST00000286355.5	-	15	5117	c.3025C>T	c.(3025-3027)Cgc>Tgc	p.R1009C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R878C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1009					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R1009C(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGAGCAAGCGCAGGCATTCC	0.443										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3025-3027)CGC>TGC		adenylate cyclase 8							185.0	166.0	173.0					8																	131812707		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131812707G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3025C>T	8.37:g.131812707G>A	ENSP00000286355:p.Arg1009Cys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R878C	p.R1009C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	3281	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1009			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3025C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892828	0.91889	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.82167	-1.58;-1.58	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93632	0.6957	10	0.87932	D	0	.	17.5783	0.87957	0.0:0.0:1.0:0.0	.	878;1009	E7EVL1;P40145	.;ADCY8_HUMAN	C	1009;878	ENSP00000286355:R1009C;ENSP00000367161:R878C	ENSP00000286355:R1009C	R	-	1	0	ADCY8	131881889	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	4.741000	0.62095	2.360000	0.80028	0.557000	0.71058	CGC		PASS	0.443	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			119	328	119	328	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131826349	131826349	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:131826349G>A	ENST00000286355.5	-	14	4971	c.2879C>T	c.(2878-2880)gCc>gTc	p.A960V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A829V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	960					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A960V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAATGGCGGGCCACATGGCT	0.522										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2878-2880)GCC>GTC		adenylate cyclase 8							178.0	138.0	152.0					8																	131826349		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131826349G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2879C>T	8.37:g.131826349G>A	ENSP00000286355:p.Ala960Val	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A829V	p.A960V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	3135	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		960			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2879C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541464	0.96474	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.84070	-1.8;-1.72	5.87	5.87	0.94306	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.86953	2.85	0.48040	D	0.99957	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	D	0.91444	0.5176	10	0.44086	T	0.13	.	17.7375	0.88397	0.0:0.0:1.0:0.0	.	829;960	E7EVL1;P40145	.;ADCY8_HUMAN	V	960;829	ENSP00000286355:A960V;ENSP00000367161:A829V	ENSP00000286355:A960V	A	-	2	0	ADCY8	131895531	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.403000	0.97302	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			30	96	30	96	---	---	---	---
WISP1	8840	broad.mit.edu	37	8	134232918	134232918	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:134232918C>A	ENST00000250160.6	+	3	550	c.444C>A	c.(442-444)gaC>gaA	p.D148E	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667																																						uc003yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(442-444)GAC>GAA		WNT1 inducible signaling pathway protein 1							98.0	82.0	87.0					8																	134232918		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232918C>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.444C>A	8.37:g.134232918C>A	ENSP00000250160:p.Asp148Glu					WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	p.D148E	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	520	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		148			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.444C>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444491	0.25987	.	.	ENSG00000104415	ENST00000250160	T	0.66460	-0.21	4.63	-0.00638	0.14013	von Willebrand factor, type C (4);	0.240149	0.46442	D	0.000289	T	0.63141	0.2486	M	0.70903	2.155	0.80722	D	1	P	0.36647	0.563	B	0.38712	0.28	T	0.63314	-0.6665	10	0.72032	D	0.01	-25.2986	9.9365	0.41554	0.0:0.4858:0.0:0.5142	.	148	O95388	WISP1_HUMAN	E	148	ENSP00000250160:D148E	ENSP00000250160:D148E	D	+	3	2	WISP1	134302100	0.906000	0.30813	0.170000	0.22879	0.056000	0.15407	0.024000	0.13555	0.057000	0.16193	-0.459000	0.05422	GAC		PASS	0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		28	135	28	135	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164260	139164260	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:139164260C>T	ENST00000395297.1	-	13	2628	c.2458G>A	c.(2458-2460)Gga>Aga	p.G820R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	820								p.G820R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATCTGTTCCAGAGTCACCA	0.517										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2458-2460)GGA>AGA		hypothetical protein LOC51059							75.0	71.0	72.0					8																	139164260		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164260C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2458G>A	8.37:g.139164260C>T	ENSP00000378710:p.Gly820Arg	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.G721R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G382R|FAM135B_uc003yvb.2_Missense_Mutation_p.G382R	p.G820R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2629	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		820					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2458G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	0.745	-0.774791	0.02951	.	.	ENSG00000147724	ENST00000395297	T	0.12879	2.64	5.58	-2.76	0.05896	.	1.052500	0.07408	N	0.891871	T	0.04907	0.0132	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.43294	-0.9400	10	0.15952	T	0.53	-0.0145	3.5921	0.07993	0.1172:0.4451:0.1677:0.27	.	820;820;820	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	R	820	ENSP00000378710:G820R	ENSP00000276737:G820R	G	-	1	0	FAM135B	139233442	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.408000	0.07169	-0.404000	0.07610	-0.302000	0.09304	GGA		PASS	0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		54	121	54	121	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139209863	139209863	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:139209863C>A	ENST00000395297.1	-	8	889	c.719G>T	c.(718-720)tGg>tTg	p.W240L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	240								p.W240L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCTCGGTGCCACTTGTGTGC	0.577										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(718-720)TGG>TTG		hypothetical protein LOC51059							91.0	107.0	102.0					8																	139209863		2156	4274	6430	SO:0001583	missense	51059							g.chr8:139209863C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.719G>T	8.37:g.139209863C>A	ENSP00000378710:p.Trp240Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.W141L|FAM135B_uc003yuz.2_RNA	p.W240L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	890	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		240					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.719G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443063	0.63067	.	.	ENSG00000147724	ENST00000395297	T	0.77877	-1.13	4.74	3.86	0.44501	.	0.284890	0.36778	N	0.002417	T	0.81451	0.4825	L	0.46157	1.445	0.45704	D	0.998619	D	0.71674	0.998	D	0.78314	0.991	T	0.79087	-0.1947	10	0.38643	T	0.18	-3.8416	8.65	0.34029	0.0:0.8965:0.0:0.1035	.	240	Q49AJ0	F135B_HUMAN	L	240	ENSP00000378710:W240L	ENSP00000276737:W240L	W	-	2	0	FAM135B	139279045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.618000	0.54188	1.223000	0.43536	0.563000	0.77884	TGG		PASS	0.577	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		29	114	29	114	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890011	139890011	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:139890011G>C	ENST00000303045.6	-	3	1086	c.640C>G	c.(640-642)Cgg>Ggg	p.R214G	COL22A1_ENST00000435777.1_Missense_Mutation_p.R214G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	214					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R214G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGACGGCGCCGCAGCTTGCCC	0.652										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(640-642)CGG>GGG		collagen, type XXII, alpha 1							34.0	35.0	35.0					8																	139890011		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890011G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.640C>G	8.37:g.139890011G>C	ENSP00000303153:p.Arg214Gly	HNSCC(7;0.00092)					p.R214G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1087	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		214					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.640C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604749	0.46423	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.77750	-1.12;-1.12	5.03	-4.41	0.03590	von Willebrand factor, type A (1);	0.000000	0.47455	D	0.000238	T	0.78413	0.4279	L	0.31065	0.9	0.47276	D	0.999373	D	0.89917	1.0	D	0.81914	0.995	T	0.75690	-0.3230	9	.	.	.	.	18.3196	0.90232	0.0:0.0:0.2395:0.7605	.	214	Q8NFW1	COMA1_HUMAN	G	214	ENSP00000303153:R214G;ENSP00000387655:R214G	.	R	-	1	2	COL22A1	139959193	1.000000	0.71417	0.950000	0.38849	0.336000	0.28762	0.960000	0.29253	-0.591000	0.05859	-0.262000	0.10625	CGG		PASS	0.652	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		15	56	15	56	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141799601	141799601	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:141799601G>T	ENST00000522684.1	-	14	1378	c.1149C>A	c.(1147-1149)ggC>ggA	p.G383G	PTK2_ENST00000395218.2_Silent_p.G383G|PTK2_ENST00000538769.1_Silent_p.G44G|PTK2_ENST00000521059.1_Silent_p.G383G|PTK2_ENST00000535192.1_Silent_p.G383G|PTK2_ENST00000517887.1_Silent_p.G427G|PTK2_ENST00000519419.1_Silent_p.G427G|PTK2_ENST00000340930.3_Silent_p.G383G	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	383					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.G405G(1)|p.G293G(1)|p.G383G(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GTGTCCGCATGCCTTGCTTTT	0.527																																						uc003yvu.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1147-1149)GGC>GGA		PTK2 protein tyrosine kinase 2 isoform a							241.0	219.0	227.0					8																	141799601		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141799601G>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1149C>A	8.37:g.141799601G>T						PTK2_uc011ljq.1_Silent_p.G44G|PTK2_uc003yvp.2_Silent_p.G44G|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.G282G|PTK2_uc003yvs.2_Silent_p.G383G|PTK2_uc003yvt.2_Silent_p.G405G|PTK2_uc003yvv.2_Silent_p.G270G|PTK2_uc011ljr.1_Silent_p.G383G	p.G383G	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		14	1379	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	383					B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.1149C>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356942	0.24598	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.87	-3.92	0.04155	.	.	.	.	.	T	0.42268	0.1195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40421	-0.9564	4	.	.	.	.	4.5722	0.12216	0.4866:0.0:0.2098:0.3037	.	.	.	.	N	394	.	.	H	-	1	0	PTK2	141868783	0.959000	0.32827	0.663000	0.29738	0.984000	0.73092	0.110000	0.15437	-0.426000	0.07360	-0.345000	0.07892	CAT		PASS	0.527	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		133	475	133	475	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145657681	145657681	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:145657681C>A	ENST00000409379.3	-	23	3751	c.3722G>T	c.(3721-3723)cGa>cTa	p.R1241L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1241					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R1241L(1)|p.R1082L(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCCAGGTATCGGAATACAGG	0.622																																						uc011llg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3721-3723)CGA>CTA		NF-kappa-B inhibitor-like protein 2							84.0	85.0	85.0					8																	145657681		2203	4300	6503	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145657681C>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3722G>T	8.37:g.145657681C>A	ENSP00000386239:p.Arg1241Leu					uc011llh.1_5'Flank	p.R1241L	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		23	3737	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1241					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.3722G>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	c	10.22	1.291292	0.23564	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.51817	0.69	5.03	-3.09	0.05331	.	0.887861	0.09771	N	0.758032	T	0.33118	0.0852	L	0.43152	1.355	0.09310	N	1	P	0.44090	0.826	B	0.40741	0.339	T	0.24190	-1.0167	10	0.22706	T	0.39	1.836	6.1161	0.20127	0.1176:0.4211:0.0:0.4614	.	1241	Q96HA7	TONSL_HUMAN	L	1241;1240	ENSP00000386239:R1241L	ENSP00000386239:R1241L	R	-	2	0	TONSL	145628489	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.149000	0.10204	-0.721000	0.04929	-1.263000	0.01449	CGA		PASS	0.622	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		64	203	64	203	---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5090820	5090820	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:5090820G>C	ENST00000381652.3	+	22	3462	c.2968G>C	c.(2968-2970)Gtt>Ctt	p.V990L	JAK2_ENST00000544510.1_Missense_Mutation_p.V841L|JAK2_ENST00000539801.1_Missense_Mutation_p.V990L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	990	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.V990L(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CGAGAACAGAGTTAAAATTGG	0.363		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(2968-2970)GTT>CTT		Janus kinase 2							163.0	173.0	170.0					9																	5090820		2203	4300	6503	SO:0001583	missense	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5090820G>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2968G>C	9.37:g.5090820G>C	ENSP00000371067:p.Val990Leu					JAK2_uc003ziw.2_Missense_Mutation_p.V990L	p.V990L	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	21	3081	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	990			Protein kinase 2.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2968G>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040046	0.93630	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.85861	-2.04;-2.04;-2.04	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	L	0.35593	1.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90158	0.4226	10	0.87932	D	0	-18.7791	19.7971	0.96490	0.0:0.0:1.0:0.0	.	990	O60674	JAK2_HUMAN	L	990;990;841	ENSP00000440387:V990L;ENSP00000371067:V990L;ENSP00000443103:V841L	ENSP00000371067:V990L	V	+	1	0	JAK2	5080820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.324000	0.96373	2.757000	0.94681	0.585000	0.79938	GTT		PASS	0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			666	158	666	158	---	---	---	---
IFNA13	3447	broad.mit.edu	37	9	21367977	21367977	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:21367977G>T	ENST00000449498.1	-	1	98	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	10					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.A10A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GCACCACCAGGGCCATCAGTA	0.542																																						uc003zpa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(31-33)GCC>GCA		interferon, alpha 13 precursor							87.0	95.0	92.0					9																	21367977		2202	4300	6502	SO:0001819	synonymous_variant	3447				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21367977G>T		CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.33C>A	9.37:g.21367977G>T							p.A11A	NM_006900	NP_008831	P01562	IFNA1_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	99	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Silent	SNP	ENST00000449498.1	37	c.33C>A	CCDS6505.2																																																																																				PASS	0.542	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900		40	99	40	99	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631709	32631710	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:32631709_32631710CC>AA	ENST00000242310.4	-	1	3957_3958	c.3868_3869GG>TT	c.(3868-3870)GGa>TTa	p.G1290L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1290					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.G1290*(1)|p.G1290L(1)|p.G1290V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCATATGTCCAATGGCACCA	0.47																																						uc003zrg.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3868-3870)GGA>GTA|c.(3868-3870)GGA>TGA		TBP-associated factor RNA polymerase 1-like																																				SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631709C>A|g.chr9:32631710C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3868_3869delinsAA	9.37:g.32631709_32631710delinsAA	ENSP00000418379:p.Gly1290Leu					uc003zrh.1_5'Flank	p.G1290V|p.G1290*	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3959|3958	-			1290					Q0VG57	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000242310.4	37	c.3869G>T|c.3868G>T	CCDS35003.1																																																																																				PASS	0.470	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			98|95	188|191	95	188	---	---	---	---
SUSD3	203328	broad.mit.edu	37	9	95846984	95846984	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:95846984G>T	ENST00000375472.3	+	5	759	c.723G>T	c.(721-723)ctG>ctT	p.L241L	SUSD3_ENST00000375469.1_Silent_p.L228L	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	241						integral component of membrane (GO:0016021)		p.L241L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCTCTGGGCTGGCCACAGGAA	0.647																																						uc004atb.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(721-723)CTG>CTT		sushi domain containing 3							84.0	82.0	83.0					9																	95846984		2203	4300	6503	SO:0001819	synonymous_variant	203328					integral to membrane		g.chr9:95846984G>T	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.723G>T	9.37:g.95846984G>T						SUSD3_uc004atc.2_Silent_p.L228L	p.L241L	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			5	759	+			241			Cytoplasmic (Potential).		Q49AA6|Q6UXV7	Silent	SNP	ENST00000375472.3	37	c.723G>T	CCDS6701.1																																																																																				PASS	0.647	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		23	66	23	66	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767756	105767756	+	Missense_Mutation	SNP	C	C	G	rs201302612		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:105767756C>G	ENST00000374798.3	+	5	913	c.843C>G	c.(841-843)gaC>gaG	p.D281E	CYLC2_ENST00000487798.1_Missense_Mutation_p.D281E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	281	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D281E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GTAGTACAGACAGTGACTCAA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20113	0.001		0.0	False		,,,				2504	0.0					uc004bbs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(841-843)GAC>GAG		cylicin 2							99.0	93.0	95.0					9																	105767756		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767756C>G	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.843C>G	9.37:g.105767756C>G	ENSP00000420256:p.Asp281Glu						p.D281E	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	913	+		all_hematologic(171;0.125)	281			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.843C>G	CCDS35085.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.456	0.854305	0.17106	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.11277	2.79;2.79	4.6	-9.2	0.00682	.	2.646040	0.01269	N	0.009414	T	0.04724	0.0128	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.40232	-0.9574	10	0.08837	T	0.75	-0.7537	0.7606	0.01006	0.2024:0.2103:0.3064:0.2809	.	281	Q14093	CYLC2_HUMAN	E	281	ENSP00000420256:D281E;ENSP00000417674:D281E	ENSP00000420256:D281E	D	+	3	2	CYLC2	104807577	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.882000	0.00174	-2.442000	0.00549	-0.291000	0.09656	GAC		PASS	0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		15	28	15	28	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118969826	118969826	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:118969826G>C	ENST00000328252.3	+	3	1939	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	524	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E524Q(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTCAGAGGAGGAGTTGGCAGG	0.443																																						uc004bjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(1570-1572)GAG>CAG		pregnancy-associated plasma protein A							75.0	73.0	73.0					9																	118969826		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118969826G>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1570G>C	9.37:g.118969826G>C	ENSP00000330658:p.Glu524Gln					PAPPA_uc011lxp.1_Missense_Mutation_p.E317Q|PAPPA_uc011lxq.1_Intron	p.E524Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			3	1951	+			524			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1570G>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300224	0.95574	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01918	4.56	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);	0.048594	0.85682	D	0.000000	T	0.09555	0.0235	L	0.45137	1.4	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.67725	0.91;0.953	T	0.01848	-1.1261	10	0.54805	T	0.06	-24.0826	20.6243	0.99512	0.0:0.0:1.0:0.0	.	66;524	E7EMD3;Q13219	.;PAPP1_HUMAN	Q	524;66	ENSP00000330658:E524Q	ENSP00000330658:E524Q	E	+	1	0	PAPPA	118009647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.827000	0.99397	2.879000	0.98667	0.650000	0.86243	GAG		PASS	0.443	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		35	66	35	66	---	---	---	---
GOLGA1	2800	broad.mit.edu	37	9	127652688	127652688	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:127652688T>C	ENST00000373555.4	-	16	1810	c.1477A>G	c.(1477-1479)Agg>Ggg	p.R493G	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	493	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.R493G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AACTCTTCCCTTTGCTTCCGC	0.577																																						uc004bpc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1477-1479)AGG>GGG		golgin 97							219.0	146.0	171.0					9																	127652688		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127652688T>C	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1477A>G	9.37:g.127652688T>C	ENSP00000362656:p.Arg493Gly					GOLGA1_uc010mws.2_RNA	p.R493G	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			16	1819	-			493			Potential.|Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1477A>G	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132639	0.56828	.	.	ENSG00000136935	ENST00000373555	T	0.26810	1.71	5.24	4.06	0.47325	.	0.125962	0.35067	N	0.003466	T	0.21674	0.0522	L	0.56769	1.78	0.33242	D	0.557341	P	0.35433	0.501	B	0.29785	0.107	T	0.27054	-1.0085	10	0.24483	T	0.36	-2.5509	9.7845	0.40668	0.0:0.0:0.1735:0.8265	.	493	Q92805	GOGA1_HUMAN	G	493	ENSP00000362656:R493G	ENSP00000362656:R493G	R	-	1	2	GOLGA1	126692509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.471000	0.53107	0.779000	0.33543	0.450000	0.29827	AGG		PASS	0.577	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		62	80	62	80	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135140176	135140176	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:135140176A>G	ENST00000224140.5	-	26	7666	c.7484T>C	c.(7483-7485)cTa>cCa	p.L2495P	SETX_ENST00000372169.2_Missense_Mutation_p.L2524P|SETX_ENST00000393220.1_Missense_Mutation_p.L2462P|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2495					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L2495P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCACTGTCTAGCTTGCTGCT	0.507																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(7483-7485)CTA>CCA		senataxin							121.0	117.0	118.0					9																	135140176		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140176A>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7484T>C	9.37:g.135140176A>G	ENSP00000224140:p.Leu2495Pro					SETX_uc004cbj.2_Missense_Mutation_p.L2143P|SETX_uc010mzt.2_Missense_Mutation_p.L2081P	p.L2495P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	26	7667	-		Myeloproliferative disorder(178;0.204)	2495					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7484T>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878671	0.33162	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91792	-2.21;-2.91;-2.41;-1.95	4.83	-5.32	0.02722	.	1.102210	0.07037	N	0.829503	D	0.84014	0.5379	L	0.38838	1.175	0.19575	N	0.999966	B;B;B	0.17667	0.01;0.013;0.023	B;B;B	0.16722	0.009;0.007;0.016	T	0.68269	-0.5453	10	0.28530	T	0.3	.	4.854	0.13550	0.3519:0.0:0.3931:0.2551	.	2462;2495;2524	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	P	2495;766;2524;2462	ENSP00000224140:L2495P;ENSP00000409143:L766P;ENSP00000361242:L2524P;ENSP00000376913:L2462P	ENSP00000224140:L2495P	L	-	2	0	SETX	134129997	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.189000	0.03061	-1.019000	0.03358	0.459000	0.35465	CTA		PASS	0.507	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		96	135	96	135	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135863681	135863681	+	Silent	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:135863681C>A	ENST00000339463.3	+	8	1155	c.336C>A	c.(334-336)gcC>gcA	p.A112A	GFI1B_ENST00000372123.1_Silent_p.A112A|GFI1B_ENST00000372122.1_Silent_p.A112A|GFI1B_ENST00000534944.1_Silent_p.A112A|GFI1B_ENST00000372124.1_Silent_p.A112A|GFI1B_ENST00000450530.1_Silent_p.A112A			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	112	Interaction with ARIH2.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.A112A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACACCTTGGCCACAACCTATG	0.627																																						uc004ccg.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(334-336)GCC>GCA		growth factor independent 1B transcription							108.0	90.0	96.0					9																	135863681		2203	4300	6503	SO:0001819	synonymous_variant	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135863681C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.336C>A	9.37:g.135863681C>A						GFI1B_uc010mzy.2_Silent_p.A112A	p.A112A	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	4	487	+			112			Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Silent	SNP	ENST00000339463.3	37	c.336C>A	CCDS6957.1																																																																																				PASS	0.627	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		28	55	28	55	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136582496	136582496	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr9:136582496C>G	ENST00000371872.4	-	8	1359	c.1102G>C	c.(1102-1104)Gtc>Ctc	p.V368L	SARDH_ENST00000422262.2_Missense_Mutation_p.V200L|SARDH_ENST00000439388.1_Missense_Mutation_p.V368L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	368					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.V368L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCACGGGGACCCTGTTGATG	0.612																																						uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GTC>CTC		sarcosine dehydrogenase precursor							118.0	106.0	110.0					9																	136582496		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136582496C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1102G>C	9.37:g.136582496C>G	ENSP00000360938:p.Val368Leu					SARDH_uc004ceo.2_Missense_Mutation_p.V368L|SARDH_uc011mdn.1_Missense_Mutation_p.V368L|SARDH_uc011mdo.1_Missense_Mutation_p.V200L	p.V368L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	8	1236	-			368					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1102G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520299	0.44866	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281	T;T;T	0.79554	-1.28;-1.28;-1.28	3.95	3.95	0.45737	FAD dependent oxidoreductase (1);	0.326899	0.27451	N	0.019308	T	0.77745	0.4176	L	0.35593	1.075	0.80722	D	1	B	0.33528	0.416	B	0.42163	0.378	T	0.79184	-0.1908	10	0.51188	T	0.08	-40.2019	16.0188	0.80464	0.0:1.0:0.0:0.0	.	368	Q9UL12	SARDH_HUMAN	L	368;368;200;368;368;368	ENSP00000360938:V368L;ENSP00000403084:V368L;ENSP00000415537:V200L	ENSP00000360938:V368L	V	-	1	0	SARDH	135572317	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	5.958000	0.70330	1.760000	0.52011	0.462000	0.41574	GTC		PASS	0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			35	59	35	59	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55913039	55913039	+	Silent	SNP	G	G	A	rs370348265		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:55913039G>A	ENST00000320301.6	-	14	1999	c.1605C>T	c.(1603-1605)gaC>gaT	p.D535D	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.D513D|PCDH15_ENST00000395438.1_Silent_p.D535D|PCDH15_ENST00000395430.1_Silent_p.D535D|PCDH15_ENST00000395445.1_Silent_p.D542D|PCDH15_ENST00000361849.3_Silent_p.D535D|PCDH15_ENST00000437009.1_Silent_p.D535D|PCDH15_ENST00000395433.1_Silent_p.D513D|PCDH15_ENST00000395446.1_Silent_p.D535D|PCDH15_ENST00000409834.1_Silent_p.D146D|PCDH15_ENST00000395432.2_Silent_p.D498D|PCDH15_ENST00000373955.1_Silent_p.D535D|PCDH15_ENST00000414778.1_Silent_p.D540D|PCDH15_ENST00000373965.2_Silent_p.D542D|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D540D(2)|p.D535D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCGTCTGCGTCGACTGCAG	0.453										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1603-1605)GAC>GAT		protocadherin 15 isoform CD1-4 precursor							109.0	102.0	105.0					10																	55913039		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55913039G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1605C>T	10.37:g.55913039G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.D540D|PCDH15_uc010qhr.1_Silent_p.D535D|PCDH15_uc010qhs.1_Silent_p.D547D|PCDH15_uc010qht.1_Silent_p.D542D|PCDH15_uc010qhu.1_Silent_p.D535D|PCDH15_uc001jjv.1_Silent_p.D513D|PCDH15_uc010qhv.1_Silent_p.D535D|PCDH15_uc010qhw.1_Silent_p.D498D|PCDH15_uc010qhx.1_Silent_p.D535D|PCDH15_uc010qhy.1_Silent_p.D540D|PCDH15_uc010qhz.1_Silent_p.D535D|PCDH15_uc010qia.1_Silent_p.D513D|PCDH15_uc010qib.1_Silent_p.D513D|PCDH15_uc001jjw.2_Silent_p.D535D	p.D535D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			14	2000	-		Melanoma(3;0.117)|Lung SC(717;0.238)	535			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1605C>T	CCDS7248.1																																																																																				PASS	0.453	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		55	88	55	88	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69934038	69934038	+	Missense_Mutation	SNP	C	C	A	rs373040567		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:69934038C>A	ENST00000358913.5	+	11	2677	c.2189C>A	c.(2188-2190)aCg>aAg	p.T730K	MYPN_ENST00000540630.1_Missense_Mutation_p.T730K|MYPN_ENST00000354393.2_Missense_Mutation_p.T455K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	730					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.T730K(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCCCCTCCACGAACACCACC	0.552																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2188-2190)ACG>AAG		myopalladin							108.0	113.0	111.0					10																	69934038		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934038C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2189C>A	10.37:g.69934038C>A	ENSP00000351790:p.Thr730Lys					MYPN_uc001jnn.3_Missense_Mutation_p.T455K|MYPN_uc001jno.3_Missense_Mutation_p.T730K|MYPN_uc009xpt.2_Missense_Mutation_p.T730K|MYPN_uc010qit.1_Missense_Mutation_p.T436K|MYPN_uc010qiu.1_RNA	p.T730K	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2374	+			730					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2189C>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132280	0.21041	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.55052	0.54;0.57;0.54	5.03	1.95	0.26073	.	0.655388	0.16202	N	0.224888	T	0.33498	0.0865	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23249	0.006;0.082;0.004	B;B;B	0.22753	0.015;0.041;0.007	T	0.16394	-1.0404	9	.	.	.	.	7.9569	0.30049	0.1302:0.7269:0.0:0.1428	.	730;455;730	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	K	455;455;730;730	ENSP00000346369:T455K;ENSP00000351790:T730K;ENSP00000441668:T730K	.	T	+	2	0	MYPN	69604044	0.000000	0.05858	0.001000	0.08648	0.392000	0.30506	1.099000	0.31013	0.793000	0.33875	0.655000	0.94253	ACG		PASS	0.552	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		88	205	88	205	---	---	---	---
NODAL	4838	broad.mit.edu	37	10	72195131	72195131	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:72195131G>C	ENST00000287139.3	-	2	801	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A	AC022532.1_ENST00000420338.2_Silent_p.G26G	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	268					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)	p.P268A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TACTGCTTGGGGTAGATGATC	0.547																																						uc001jrc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|kidney(1)	2						c.(802-804)CCC>GCC		nodal precursor							101.0	81.0	88.0					10																	72195131		2203	4300	6503	SO:0001583	missense	4838				growth	extracellular space	cytokine activity|growth factor activity	g.chr10:72195131G>C	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.802C>G	10.37:g.72195131G>C	ENSP00000287139:p.Pro268Ala						p.P268A	NM_018055	NP_060525	Q96S42	NODAL_HUMAN			2	844	-			268					Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	c.802C>G	CCDS7304.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755980	0.89843	.	.	ENSG00000156574	ENST00000287139;ENST00000414871	D;D	0.90385	-2.66;-2.66	5.88	5.88	0.94601	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	10	0.87932	D	0	.	19.0137	0.92884	0.0:0.0:1.0:0.0	.	268	Q96S42	NODAL_HUMAN	A	268;213	ENSP00000287139:P268A;ENSP00000394468:P213A	ENSP00000287139:P268A	P	-	1	0	NODAL	71865137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.053000	0.93860	2.782000	0.95742	0.655000	0.94253	CCC		PASS	0.547	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055		13	67	13	67	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908180	103908180	+	Silent	SNP	G	G	T	rs558136788		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:103908180G>T	ENST00000278070.2	+	10	4491	c.4452G>T	c.(4450-4452)tcG>tcT	p.S1484S	PPRC1_ENST00000413464.2_Silent_p.S1220S|PPRC1_ENST00000370012.1_Silent_p.S451S|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1484	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1484S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		cctcttcttcgtcatcatctt	0.552																																						uc001kum.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4450-4452)TCG>TCT		peroxisome proliferator-activated receptor							204.0	138.0	160.0					10																	103908180		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908180G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4452G>T	10.37:g.103908180G>T						PPRC1_uc001kun.2_Silent_p.S1364S|PPRC1_uc010qqj.1_Silent_p.S1220S|PPRC1_uc009xxa.2_RNA	p.S1484S	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4491	+		Colorectal(252;0.122)	1484			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4452G>T	CCDS7529.1																																																																																				PASS	0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		71	80	71	80	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108437122	108437122	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:108437122C>G	ENST00000263054.6	-	13	1788	c.1781G>C	c.(1780-1782)gGt>gCt	p.G594A	SORCS1_ENST00000344440.6_Missense_Mutation_p.G594A|SORCS1_ENST00000369698.1_Missense_Mutation_p.G129A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	594					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G594A(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGACTCCACCTTGATCCAG	0.473																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1780-1782)GGT>GCT		SORCS receptor 1 isoform a							209.0	160.0	177.0					10																	108437122		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108437122C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1781G>C	10.37:g.108437122C>G	ENSP00000263054:p.Gly594Ala					SORCS1_uc001kyl.2_Missense_Mutation_p.G594A|SORCS1_uc009xxs.2_Missense_Mutation_p.G594A|SORCS1_uc001kyn.1_Missense_Mutation_p.G594A|SORCS1_uc001kyo.2_Missense_Mutation_p.G594A	p.G594A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	13	1789	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	594			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1781G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002947	0.93287	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.50813	0.73;0.73;0.73	5.96	5.96	0.96718	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.85728	0.1329	9	.	.	.	-15.6372	20.4084	0.99013	0.0:1.0:0.0:0.0	.	594;594;594;594;594	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	A	129;594;594	ENSP00000358712:G129A;ENSP00000263054:G594A;ENSP00000345964:G594A	.	G	-	2	0	SORCS1	108427112	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.473000	0.81007	2.833000	0.97629	0.650000	0.86243	GGT		PASS	0.473	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		31	55	31	55	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115350407	115350407	+	IGR	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:115350407G>A	ENST00000351270.3	+	0	3009				NRAP_ENST00000369360.3_Missense_Mutation_p.P1602L|NRAP_ENST00000369358.4_Missense_Mutation_p.P1637L|NRAP_ENST00000360478.3_Missense_Mutation_p.P1594L|NRAP_ENST00000359988.3_Missense_Mutation_p.P1629L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.P1629L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GGTGGGCTGGGGCAGGGGCTG	0.657																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4885-4887)CCC>CTC		nebulin-related anchoring protein isoform S							52.0	54.0	53.0					10																	115350407		2203	4300	6503	SO:0001628	intergenic_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115350407G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115350407G>A						NRAP_uc009xyb.2_Missense_Mutation_p.P382L|NRAP_uc001lak.2_Missense_Mutation_p.P1594L|NRAP_uc001lal.3_Missense_Mutation_p.P1629L	p.P1629L	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	40	5050	-		Colorectal(252;0.0233)|Breast(234;0.188)	1629					A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.4886C>T	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211457	0.79240	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.69	4.72	0.59763	.	0.047798	0.85682	D	0.000000	T	0.29976	0.0750	L	0.40543	1.245	0.58432	D	0.999999	P;P;P;B	0.47910	0.902;0.474;0.454;0.325	P;B;B;B	0.46452	0.517;0.254;0.438;0.254	T	0.01096	-1.1453	10	0.39692	T	0.17	.	11.2986	0.49292	0.0:0.0:0.602:0.3979	.	751;1629;1594;1629	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	1637;1602;1629;1594;751	ENSP00000358365:P1637L;ENSP00000358367:P1602L;ENSP00000353078:P1629L;ENSP00000353666:P1594L	ENSP00000353078:P1629L	P	-	2	0	NRAP	115340397	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.727000	0.68523	2.688000	0.91661	0.561000	0.74099	CCC		PASS	0.657	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		29	44	29	44	---	---	---	---
OR51B4	79339	broad.mit.edu	37	11	5322388	5322388	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:5322388T>A	ENST00000380224.1	-	1	838	c.789A>T	c.(787-789)aaA>aaT	p.K263N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	263					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K263N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGTGCATGTTTCCCAAACC	0.423																																						uc010qza.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(787-789)AAA>AAT		olfactory receptor, family 51, subfamily B,							111.0	102.0	105.0					11																	5322388		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322388T>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.789A>T	11.37:g.5322388T>A	ENSP00000369573:p.Lys263Asn					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.K263N	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	789	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	263			Extracellular (Potential).		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.789A>T	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	T	7.000	0.554775	0.13436	.	.	ENSG00000183251	ENST00000380224	T	0.00145	8.67	4.13	-5.98	0.02220	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00271	0.0008	M	0.86097	2.795	0.09310	N	1	B	0.30664	0.289	B	0.40477	0.33	T	0.32214	-0.9915	10	0.66056	D	0.02	.	14.6956	0.69118	0.0:0.6413:0.0:0.3587	.	263	Q9Y5P0	O51B4_HUMAN	N	263	ENSP00000369573:K263N	ENSP00000369573:K263N	K	-	3	2	OR51B4	5278964	0.000000	0.05858	0.016000	0.15963	0.032000	0.12392	-3.657000	0.00401	-1.219000	0.02597	-0.297000	0.09499	AAA		PASS	0.423	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		27	77	27	77	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17547921	17547921	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:17547921A>T	ENST00000318024.4	-	8	755	c.647T>A	c.(646-648)cTg>cAg	p.L216Q	USH1C_ENST00000005226.7_Missense_Mutation_p.L216Q|USH1C_ENST00000527720.1_Missense_Mutation_p.L185Q|USH1C_ENST00000527020.1_Missense_Mutation_p.L216Q	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	216	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.L216Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGAGCCTACCAGGCTGATGAA	0.617																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)CTG>CAG		harmonin isoform a							94.0	71.0	79.0					11																	17547921		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17547921A>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.647T>A	11.37:g.17547921A>T	ENSP00000317018:p.Leu216Gln					USH1C_uc001mne.2_Missense_Mutation_p.L216Q|USH1C_uc009yhb.2_Missense_Mutation_p.L216Q|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.L180Q	p.L216Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			8	756	-			216			PDZ 2.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.647T>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713602	0.89112	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.69	5.69	0.88448	PDZ/DHR/GLGF (2);	0.154127	0.42420	D	0.000704	T	0.59115	0.2170	L	0.37750	1.13	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.999;0.984	T	0.61138	-0.7123	10	0.59425	D	0.04	.	13.9124	0.63876	1.0:0.0:0.0:0.0	.	216;216;216	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	Q	216;185;216;216;227	ENSP00000317018:L216Q;ENSP00000432944:L185Q;ENSP00000436934:L216Q;ENSP00000005226:L216Q;ENSP00000437128:L227Q	ENSP00000005226:L216Q	L	-	2	0	USH1C	17504497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.168000	0.68352	0.528000	0.53228	CTG		PASS	0.617	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		6	69	6	69	---	---	---	---
LDHAL6A	160287	broad.mit.edu	37	11	18498018	18498018	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:18498018G>C	ENST00000280706.2	+	5	1477	c.680G>C	c.(679-681)tGg>tCg	p.W227S	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W227S|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	227					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.W227S(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						CCTGAGCAGTGGGAAAATGTC	0.423																																						uc001mop.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TGG>TCG		lactate dehydrogenase A-like 6A	NADH(DB00157)						146.0	141.0	143.0					11																	18498018		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18498018G>C	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.680G>C	11.37:g.18498018G>C	ENSP00000280706:p.Trp227Ser					LDHAL6A_uc001moq.2_Missense_Mutation_p.W227S	p.W227S	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN			6	941	+			227					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.680G>C	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300608	0.81136	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.63096	-0.02;-0.02	4.08	2.14	0.27477	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000005	T	0.81074	0.4747	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80011	-0.1561	10	0.87932	D	0	.	8.1078	0.30896	0.2055:0.0:0.7945:0.0	.	227	Q6ZMR3	LDH6A_HUMAN	S	227	ENSP00000379516:W227S;ENSP00000280706:W227S	ENSP00000280706:W227S	W	+	2	0	LDHAL6A	18454594	1.000000	0.71417	0.004000	0.12327	0.929000	0.56500	4.305000	0.59110	0.187000	0.20147	0.563000	0.77884	TGG		PASS	0.423	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		76	130	76	130	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50004035	50004035	+	Start_Codon_SNP	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:50004035C>A	ENST00000335238.4	-	1	36	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTCTTCTCCATCTATGTAG	0.318																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1-3)ATG>ATT		olfactory receptor, family 4, subfamily C,							38.0	35.0	36.0					11																	50004035		2201	4296	6497	SO:0001582	initiator_codon_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50004035C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.3G>T	11.37:g.50004035C>A	ENSP00000334418:p.Met1Ile						p.M1I	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	3	-			1			Extracellular (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.3G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204248	0.38905	.	.	ENSG00000221954	ENST00000335238	T	0.01015	5.44	3.19	3.19	0.36642	.	0.121948	0.35772	N	0.002989	T	0.01124	0.0037	.	.	.	0.80722	D	1	B	0.30439	0.279	B	0.34242	0.178	T	0.61724	-0.7004	9	0.87932	D	0	.	6.5208	0.22275	0.0:0.8614:0.0:0.1386	.	1	Q96R67	OR4CC_HUMAN	I	1	ENSP00000334418:M1I	ENSP00000334418:M1I	M	-	3	0	OR4C12	49960611	0.032000	0.19561	0.784000	0.31847	0.203000	0.24098	0.413000	0.21148	1.810000	0.52873	0.398000	0.26397	ATG		PASS	0.318	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	Missense_Mutation	30	86	30	86	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418580	55418580	+	Silent	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55418580G>T	ENST00000312422.2	+	1	201	c.201G>T	c.(199-201)gtG>gtT	p.V67V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V67V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGTCTTTTGTGGACATTTGTT	0.423																																						uc001nhs.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(199-201)GTG>GTT		olfactory receptor, family 4, subfamily S,							244.0	195.0	212.0					11																	55418580		2180	4048	6228	SO:0001819	synonymous_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418580G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.201G>T	11.37:g.55418580G>T							p.V67V	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	201	+		all_epithelial(135;0.0748)	67			Helical; Name=2; (Potential).		Q6IF72	Silent	SNP	ENST00000312422.2	37	c.201G>T	CCDS31505.1																																																																																				PASS	0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		73	375	73	375	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418609	55418609	+	Missense_Mutation	SNP	C	C	A	rs537608122		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55418609C>A	ENST00000312422.2	+	1	230	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P77H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTCACAGCTCCCAAGATGATT	0.428																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(229-231)CCC>CAC		olfactory receptor, family 4, subfamily S,							243.0	197.0	213.0					11																	55418609		2184	4045	6229	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418609C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.230C>A	11.37:g.55418609C>A	ENSP00000310337:p.Pro77His						p.P77H	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	230	+		all_epithelial(135;0.0748)	77			Helical; Name=2; (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.230C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891179	0.72524	.	.	ENSG00000174982	ENST00000312422	T	0.01871	4.59	5.36	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.20536	0.0494	H	0.95982	3.75	0.46317	D	0.998985	D	0.89917	1.0	D	0.97110	1.0	T	0.25187	-1.0139	10	0.87932	D	0	.	14.1781	0.65557	0.151:0.849:0.0:0.0	.	77	Q8NH73	OR4S2_HUMAN	H	77	ENSP00000310337:P77H	ENSP00000310337:P77H	P	+	2	0	OR4S2	55175185	0.999000	0.42202	0.992000	0.48379	0.888000	0.51559	4.893000	0.63199	1.235000	0.43724	0.549000	0.68633	CCC		PASS	0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		157	337	157	337	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55419050	55419050	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55419050G>A	ENST00000312422.2	+	1	671	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R224K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTCCCTGAGAAAGCAGTCA	0.483																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(670-672)AGA>AAA		olfactory receptor, family 4, subfamily S,							165.0	133.0	144.0					11																	55419050		2177	4034	6211	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419050G>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.671G>A	11.37:g.55419050G>A	ENSP00000310337:p.Arg224Lys						p.R224K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	671	+		all_epithelial(135;0.0748)	224			Cytoplasmic (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.671G>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523058	0.44866	.	.	ENSG00000174982	ENST00000312422	T	0.00193	8.58	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.00144	0.0004	N	0.25144	0.715	0.22096	N	0.99937	B	0.25667	0.131	B	0.24974	0.057	T	0.54084	-0.8346	10	0.09843	T	0.71	.	17.6379	0.88128	0.0:0.0:1.0:0.0	.	224	Q8NH73	OR4S2_HUMAN	K	224	ENSP00000310337:R224K	ENSP00000310337:R224K	R	+	2	0	OR4S2	55175626	0.000000	0.05858	0.994000	0.49952	0.981000	0.71138	-0.462000	0.06704	2.508000	0.84585	0.542000	0.68232	AGA		PASS	0.483	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		89	205	89	205	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432892	55432892	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55432892C>T	ENST00000314259.3	+	1	279	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGTAGACACCCTCTCCAAGAG	0.488																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(250-252)CTC>TTC		olfactory receptor, family 4, subfamily C,							204.0	177.0	186.0					11																	55432892		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432892C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.250C>T	11.37:g.55432892C>T	ENSP00000324769:p.Leu84Phe					OR4C6_uc010rik.1_Missense_Mutation_p.L84F	p.L84F	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	515	+			84			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.250C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	8.158	0.788974	0.16258	.	.	ENSG00000181903	ENST00000314259	T	0.01059	5.39	3.83	-4.46	0.03536	GPCR, rhodopsin-like superfamily (1);	0.473755	0.15683	N	0.249823	T	0.01387	0.0045	L	0.46614	1.455	0.09310	N	1	B	0.21821	0.061	B	0.29440	0.102	T	0.35943	-0.9768	10	0.42905	T	0.14	.	11.0691	0.47993	0.0:0.4521:0.0:0.5479	.	84	Q8NH72	OR4C6_HUMAN	F	84	ENSP00000324769:L84F	ENSP00000324769:L84F	L	+	1	0	OR4C6	55189468	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.074000	0.00617	-0.893000	0.03930	-1.534000	0.00916	CTC		PASS	0.488	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		85	172	85	172	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594993	55594993	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55594993A>G	ENST00000378397.1	+	1	299	c.299A>G	c.(298-300)cAa>cGa	p.Q100R		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100R(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCATGGTGCAATTCTACTTG	0.468										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)CAA>CGA		olfactory receptor, family 5, subfamily L,							191.0	181.0	184.0					11																	55594993		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594993A>G	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.299A>G	11.37:g.55594993A>G	ENSP00000367650:p.Gln100Arg	HNSCC(27;0.073)					p.Q100R	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	299	+		all_epithelial(135;0.208)	100			Helical; Name=3; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.299A>G	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250154	0.39797	.	.	ENSG00000205030	ENST00000378397	T	0.00466	7.23	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000190	T	0.03564	0.0102	H	0.99182	4.46	0.30645	N	0.756083	D	0.89917	1.0	D	0.91635	0.999	T	0.10245	-1.0638	10	0.87932	D	0	-19.5197	14.3657	0.66805	1.0:0.0:0.0:0.0	.	100	Q8NGL0	OR5L2_HUMAN	R	100	ENSP00000367650:Q100R	ENSP00000367650:Q100R	Q	+	2	0	OR5L2	55351569	1.000000	0.71417	0.372000	0.25991	0.154000	0.21943	8.930000	0.92872	2.128000	0.65567	0.509000	0.49947	CAA		PASS	0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		144	145	144	145	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904440	55904440	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:55904440T>A	ENST00000301529.1	-	1	754	c.755A>T	c.(754-756)tAt>tTt	p.Y252F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATTGTCCCATAGAAAACCGT	0.413																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(754-756)TAT>TTT		olfactory receptor, family 8, subfamily J,							133.0	126.0	128.0					11																	55904440		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904440T>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.755A>T	11.37:g.55904440T>A	ENSP00000301529:p.Tyr252Phe						p.Y252F	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	755	-	Esophageal squamous(21;0.00693)		252			Helical; Name=6; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.755A>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414963	0.25465	.	.	ENSG00000167822	ENST00000301529	T	0.25085	1.82	3.27	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.38321	0.1036	M	0.67625	2.065	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15150	-1.0447	10	0.20046	T	0.44	.	4.3423	0.11115	0.1772:0.1076:0.0:0.7152	.	252	Q8NGG0	OR8J3_HUMAN	F	252	ENSP00000301529:Y252F	ENSP00000301529:Y252F	Y	-	2	0	OR8J3	55661016	0.000000	0.05858	0.567000	0.28434	0.139000	0.21198	0.342000	0.19926	1.272000	0.44329	0.247000	0.18012	TAT		PASS	0.413	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		106	128	106	128	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185406	56185406	+	Silent	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:56185406C>A	ENST00000312253.1	-	1	302	c.303G>T	c.(301-303)ctG>ctT	p.L101L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L101L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAAAACAACCCAGTTGGGTTG	0.453																																						uc010rji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(301-303)CTG>CTT		olfactory receptor, family 5, subfamily R,							97.0	91.0	93.0					11																	56185406		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185406C>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.303G>T	11.37:g.56185406C>A							p.L101L	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	303	-	Esophageal squamous(21;0.00448)		101			Helical; Name=3; (Potential).			Silent	SNP	ENST00000312253.1	37	c.303G>T	CCDS31530.1																																																																																				PASS	0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		58	60	58	60	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57369607	57369607	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:57369607G>T	ENST00000278407.4	+	4	877	c.650G>T	c.(649-651)gGt>gTt	p.G217V	SERPING1_ENST00000378323.4_Missense_Mutation_p.G222V|SERPING1_ENST00000403558.1_Missense_Mutation_p.G251V|SERPING1_ENST00000378324.2_Missense_Mutation_p.G165V|SERPING1_ENST00000340687.6_Missense_Mutation_p.G217V|SERPING1_ENST00000531605.1_3'UTR	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	217					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ACGACCAAAGGTGTCACCTCA	0.587																																						uc001nkp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)GGT>GTT		serpin peptidase inhibitor, clade G, member 1							102.0	83.0	89.0					11																	57369607		2201	4296	6497	SO:0001583	missense	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57369607G>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.650G>T	11.37:g.57369607G>T	ENSP00000278407:p.Gly217Val					SERPING1_uc001nkq.1_Missense_Mutation_p.G217V|SERPING1_uc010rju.1_Missense_Mutation_p.G165V|SERPING1_uc010rjv.1_Missense_Mutation_p.G222V|SERPING1_uc001nkr.1_Missense_Mutation_p.G217V|SERPING1_uc009ymi.1_Missense_Mutation_p.G217V|SERPING1_uc009ymj.1_Missense_Mutation_p.G217V|SERPING1_uc001nks.1_5'UTR	p.G217V	NM_000062	NP_000053	P05155	IC1_HUMAN			4	841	+			217					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.650G>T	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498246	0.44455	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.58	4.61	0.57282	Serpin domain (3);	0.201657	0.43919	D	0.000506	D	0.89326	0.6683	M	0.74881	2.28	0.58432	D	0.99999	P;D;P;P	0.89917	0.837;1.0;0.837;0.837	B;D;B;B	0.87578	0.175;0.998;0.345;0.345	D	0.88197	0.2881	10	0.41790	T	0.15	.	11.6048	0.51026	0.0:0.1793:0.8207:0.0	.	222;251;217;217	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	V	217;217;222;165;251	ENSP00000278407:G217V;ENSP00000341861:G217V;ENSP00000367574:G222V;ENSP00000367575:G165V;ENSP00000384420:G251V	ENSP00000278407:G217V	G	+	2	0	SERPING1	57126183	0.980000	0.34600	0.982000	0.44146	0.196000	0.23810	2.705000	0.47127	2.628000	0.89032	0.591000	0.81541	GGT		PASS	0.587	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		21	130	21	130	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886593	57886593	+	Silent	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:57886593T>A	ENST00000302610.1	-	1	323	c.324A>T	c.(322-324)gcA>gcT	p.A108A	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108A(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTCTGTGCCTGCACAGATGG	0.542																																						uc001nml.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(322-324)GCA>GCT		olfactory receptor, family 9, subfamily I,							72.0	63.0	66.0					11																	57886593		2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886593T>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.324A>T	11.37:g.57886593T>A						OR9Q1_uc001nmj.2_Intron	p.A108A	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	324	-		Breast(21;0.0589)	108			Helical; Name=3; (Potential).		Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.324A>T	CCDS31542.1																																																																																				PASS	0.542	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		57	51	57	51	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886914	57886914	+	Start_Codon_SNP	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:57886914C>A	ENST00000302610.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TATTCTTGGCCATGGAGACAA	0.413																																						uc001nml.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1-3)ATG>ATT		olfactory receptor, family 9, subfamily I,							65.0	61.0	62.0					11																	57886914		2201	4296	6497	SO:0001582	initiator_codon_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886914C>A	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.3G>T	11.37:g.57886914C>A	ENSP00000302606:p.Met1Ile					OR9Q1_uc001nmj.2_Intron	p.M1I	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	3	-		Breast(21;0.0589)	1			Extracellular (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.3G>T	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465427	0.43839	.	.	ENSG00000172377	ENST00000302610	T	0.01369	4.97	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000014	T	0.06005	0.0156	.	.	.	0.40694	D	0.982428	D	0.54964	0.969	D	0.63381	0.914	T	0.01256	-1.1404	9	0.87932	D	0	-39.5968	11.3478	0.49571	0.0:0.9169:0.0:0.0831	.	1	Q8NGQ6	OR9I1_HUMAN	I	1	ENSP00000302606:M1I	ENSP00000302606:M1I	M	-	3	0	OR9I1	57643490	0.862000	0.29867	0.996000	0.52242	0.529000	0.34654	1.312000	0.33574	2.894000	0.99253	0.591000	0.81541	ATG		PASS	0.413	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	Missense_Mutation	10	106	10	106	---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57970847	57970847	+	Silent	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:57970847T>C	ENST00000302592.6	-	1	806	c.807A>G	c.(805-807)gtA>gtG	p.V269V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V269V(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGTACACGCCTACAGTGGTTC	0.502																																						uc010rkb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(805-807)GTA>GTG		olfactory receptor, family 1, subfamily S,							163.0	138.0	147.0					11																	57970847		2201	4296	6497	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970847T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.807A>G	11.37:g.57970847T>C							p.V269V	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	807	-		Breast(21;0.0589)	269			Helical; Name=6; (Potential).		Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.807A>G	CCDS31545.1																																																																																				PASS	0.502	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		18	236	18	236	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207151	58207151	+	Silent	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:58207151A>T	ENST00000302572.2	-	1	495	c.474T>A	c.(472-474)acT>acA	p.T158T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T158T(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTGTTCCCAGTATGAATGG	0.453																																						uc010rkh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)ACT>ACA		olfactory receptor, family 5, subfamily B,							131.0	122.0	125.0					11																	58207151		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207151A>T	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.474T>A	11.37:g.58207151A>T							p.T158T	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	474	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	158			Helical; Name=4; (Potential).		B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.474T>A	CCDS31551.1																																																																																				PASS	0.453	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		19	87	19	87	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245658	59245658	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:59245658G>A	ENST00000530162.1	+	1	813	c.756G>A	c.(754-756)gtG>gtA	p.V252V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V252V(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCATTTCGTGCCCTGCATCT	0.547																																						uc001nnz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(754-756)GTG>GTA		olfactory receptor, family 4, subfamily D,							200.0	178.0	186.0					11																	59245658		2201	4293	6494	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245658G>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.756G>A	11.37:g.59245658G>A							p.V252V	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	756	+			252			Helical; Name=6; (Potential).		B2RNH6	Silent	SNP	ENST00000530162.1	37	c.756G>A	CCDS53636.1																																																																																				PASS	0.547	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		46	203	46	203	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287588	62287588	+	Silent	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:62287588A>T	ENST00000378024.4	-	5	14575	c.14301T>A	c.(14299-14301)ccT>ccA	p.P4767P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4767					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P4767P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCCACATCAGGGGTGTTGA	0.522																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14299-14301)CCT>CCA		AHNAK nucleoprotein isoform 1							198.0	192.0	194.0					11																	62287588		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287588A>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14301T>A	11.37:g.62287588A>T						AHNAK_uc001ntk.1_Intron	p.P4767P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14601	-		Melanoma(852;0.155)	4767					A1A586	Silent	SNP	ENST00000378024.4	37	c.14301T>A	CCDS31584.1																																																																																				PASS	0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		72	261	72	261	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83544666	83544666	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:83544666C>A	ENST00000532653.1	-	12	1700	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	DLG2_ENST00000531015.1_Missense_Mutation_p.Q433H|DLG2_ENST00000543673.1_Missense_Mutation_p.Q571H|DLG2_ENST00000398309.2_Missense_Mutation_p.Q466H|DLG2_ENST00000376104.2_Missense_Mutation_p.Q571H|DLG2_ENST00000524982.1_Missense_Mutation_p.Q466H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.Q405H|DLG2_ENST00000537455.1_Missense_Mutation_p.Q220H|DLG2_ENST00000418306.2_Missense_Mutation_p.Q363H|DLG2_ENST00000398301.2_Missense_Mutation_p.Q505H|DLG2_ENST00000280241.8_Missense_Mutation_p.Q505H			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	208	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Q466H(1)|p.Q505H(1)|p.Q363H(1)|p.Q571H(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCGATAGGATCTGGTCTCCTC	0.433																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1396-1398)CAG>CAT		chapsyn-110 isoform 2							101.0	109.0	106.0					11																	83544666		2130	4262	6392	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83544666C>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1398G>T	11.37:g.83544666C>A	ENSP00000435849:p.Gln466His					DLG2_uc001pai.2_Missense_Mutation_p.Q363H|DLG2_uc010rsy.1_Missense_Mutation_p.Q433H|DLG2_uc010rsz.1_Missense_Mutation_p.Q466H|DLG2_uc010rta.1_Missense_Mutation_p.Q466H|DLG2_uc001pak.2_Missense_Mutation_p.Q571H|DLG2_uc010rtb.1_Missense_Mutation_p.Q433H|DLG2_uc001pal.1_Missense_Mutation_p.Q466H|DLG2_uc001pam.1_Missense_Mutation_p.Q505H	p.Q466H	NM_001364	NP_001355	Q15700	DLG2_HUMAN			12	1701	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	466			PDZ 3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1398G>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.128212	0.56721	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.092240	0.44902	D	0.000420	T	0.47116	0.1428	L	0.60904	1.88	0.80722	D	1	P;P;P;P;D;D;P;P	0.76494	0.9;0.945;0.596;0.493;0.999;0.963;0.888;0.659	P;P;P;P;D;P;P;P	0.72075	0.811;0.835;0.759;0.776;0.976;0.807;0.886;0.601	T	0.38499	-0.9658	9	.	.	.	.	8.9801	0.35959	0.0:0.7928:0.0:0.2072	.	433;466;466;405;505;571;466;363	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	H	466;571;363;571;505;405;220;466;466;571;433;505	ENSP00000381355:Q466H;ENSP00000365272:Q571H;ENSP00000402275:Q363H;ENSP00000441994:Q571H;ENSP00000280241:Q505H;ENSP00000381353:Q405H;ENSP00000443248:Q220H;ENSP00000432894:Q466H;ENSP00000435849:Q466H;ENSP00000433848:Q433H;ENSP00000381346:Q505H	.	Q	-	3	2	DLG2	83222314	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.579000	0.23788	2.462000	0.83206	0.650000	0.86243	CAG		PASS	0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		20	108	20	108	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89907028	89907028	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:89907028C>A	ENST00000534061.1	+	14	1677	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L450M	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	483	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.L483M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAGTAAATCACTGTATGAAAG	0.368																																						uc001pdf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1447-1449)CTG>ATG		N-acetylated alpha-linked acidic dipeptidase 2							115.0	120.0	119.0					11																	89907028		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89907028C>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1447C>A	11.37:g.89907028C>A	ENSP00000432481:p.Leu483Met					NAALAD2_uc009yvx.2_Missense_Mutation_p.L450M|NAALAD2_uc009yvy.2_Intron	p.L483M	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			14	1556	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	483			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1447C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693810	0.68386	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.50001	0.76;0.76	5.95	5.95	0.96441	Peptidase M28 (1);	0.000000	0.64402	D	0.000005	T	0.63838	0.2545	M	0.75264	2.295	0.80722	D	1	P	0.48016	0.904	P	0.57324	0.818	T	0.62812	-0.6775	9	.	.	.	-22.4944	13.5695	0.61838	0.0:0.9294:0.0:0.0706	.	483	Q9Y3Q0	NALD2_HUMAN	M	483;450	ENSP00000432481:L483M;ENSP00000320083:L450M	.	L	+	1	2	NAALAD2	89546676	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.004000	0.57068	2.824000	0.97209	0.655000	0.94253	CTG		PASS	0.368	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		38	154	38	154	---	---	---	---
FOLR4	390243	broad.mit.edu	37	11	94039700	94039700	+	Missense_Mutation	SNP	G	G	T	rs377580118		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:94039700G>T	ENST00000440961.2	+	2	204	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	54					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A54S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GAAGGACAATGCCTGCTGCAC	0.547																																						uc010rud.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)GCC>TCC		folate receptor 4 (delta) homolog							201.0	198.0	199.0					11																	94039700		2063	4203	6266	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94039700G>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.160G>T	11.37:g.94039700G>T	ENSP00000416935:p.Ala54Ser						p.A54S	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			2	160	+			54						Missense_Mutation	SNP	ENST00000440961.2	37	c.160G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.82|14.82	2.648821|2.648821	0.47362|0.47362	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.74315|.	-0.83|.	4.75|4.75	3.81|3.81	0.43845|0.43845	.|.	0.116612|.	0.64402|.	N|.	0.000020|.	T|T	0.49983|0.49983	0.1589|0.1589	L|L	0.31371|0.31371	0.925|0.925	0.42359|0.42359	D|D	0.992404|0.992404	D|.	0.54397|.	0.966|.	P|.	0.56563|.	0.801|.	T|T	0.42965|0.42965	-0.9420|-0.9420	10|5	0.02654|.	T|.	1|.	1.0619|1.0619	10.0864|10.0864	0.42421|0.42421	0.0:0.0:0.6347:0.3653|0.0:0.0:0.6347:0.3653	.|.	54|.	A6ND01-2|.	.|.	S|I	54|47	ENSP00000416935:A54S|.	ENSP00000416935:A54S|.	A|M	+|+	1|3	0|0	FOLR4|FOLR4	93679348|93679348	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.900000|0.900000	0.52787|0.52787	4.939000|4.939000	0.63526|0.63526	1.321000|1.321000	0.45227|0.45227	0.561000|0.561000	0.74099|0.74099	GCC|ATG		PASS	0.547	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		70	261	70	261	---	---	---	---
THY1	7070	broad.mit.edu	37	11	119290968	119290969	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:119290968_119290969GG>AT	ENST00000284240.5	-	3	1204_1205	c.165_166CC>AT	c.(163-168)acCCgt>acATgt	p.R56C	THY1_ENST00000528522.1_Missense_Mutation_p.R56C|USP2-AS1_ENST00000578923.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.R39C|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	56	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.R56C(2)|p.T55T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TTTGTCTCACGGGTCAGGCTGA	0.559																																						uc001pwq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(166-168)CGT>TGT|c.(163-165)ACC>ACA		Thy-1 cell surface antigen preproprotein																																				SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290968G>A|g.chr11:119290969G>T	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.165_166delinsAT	11.37:g.119290968_119290969delinsAT	ENSP00000284240:p.Arg56Cys					uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.R56C|THY1_uc001pws.2_RNA|uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Silent_p.T55T|THY1_uc001pws.2_RNA	p.R56C|p.T55T	NM_006288	NP_006279	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	200|199	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	56|55	|LT -> AP (in Ref. 5).		Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation|Silent	SNP	ENST00000284240.5	37	c.166C>T|c.165C>A	CCDS8424.1																																																																																				PASS	0.559	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		34|33	212|213	33	212	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120989112	120989112	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:120989112G>T	ENST00000392793.1	+	7	1159	c.888G>T	c.(886-888)gaG>gaT	p.E296D	TECTA_ENST00000264037.2_Missense_Mutation_p.E296D			O75443	TECTA_HUMAN	tectorin alpha	296	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E296D(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACTGCCAGGAGGCTTCCTGTA	0.547																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(886-888)GAG>GAT		tectorin alpha precursor							88.0	86.0	87.0					11																	120989112		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989112G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.888G>T	11.37:g.120989112G>T	ENSP00000376543:p.Glu296Asp						p.E296D	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	888	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	296			VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.888G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920279	0.17982	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.65178	-0.14;-0.14	5.68	1.04	0.20106	von Willebrand factor, type C (1);	0.232964	0.43260	N	0.000582	T	0.47875	0.1469	L	0.55834	1.745	0.30574	N	0.763192	B	0.09022	0.002	B	0.09377	0.004	T	0.36672	-0.9738	10	0.15066	T	0.55	.	6.1234	0.20165	0.0624:0.2858:0.4358:0.216	.	296	O75443	TECTA_HUMAN	D	296	ENSP00000376543:E296D;ENSP00000264037:E296D	ENSP00000264037:E296D	E	+	3	2	TECTA	120494322	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	1.113000	0.31184	0.299000	0.22661	0.563000	0.77884	GAG		PASS	0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		26	112	26	112	---	---	---	---
ZNF202	7753	broad.mit.edu	37	11	123597180	123597180	+	Missense_Mutation	SNP	C	C	T	rs150835875		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:123597180C>T	ENST00000529691.1	-	7	1691	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	ZNF202_ENST00000336139.4_Missense_Mutation_p.R491H|ZNF202_ENST00000530393.1_Missense_Mutation_p.R491H			O95125	ZN202_HUMAN	zinc finger protein 202	491					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R491H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGAAGTCCAGCGGAAGTGCTT	0.458																																						uc001pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1471-1473)CGC>CAC		zinc finger protein 202		C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	115.0	114.0	114.0		1472	4.8	1.0	11	dbSNP_134	114	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF202	NM_003455.2	29	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	491/649	123597180	2,13000	2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597180C>T	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1472G>A	11.37:g.123597180C>T	ENSP00000433881:p.Arg491His					ZNF202_uc001pzc.1_Missense_Mutation_p.R267H|ZNF202_uc001pze.1_Missense_Mutation_p.R491H|ZNF202_uc001pzf.1_Missense_Mutation_p.R491H	p.R491H	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1872	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	491			C2H2-type 3.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.1472G>A	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912026	0.52439	2.27E-4	1.16E-4	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.08102	3.13;3.13;3.13	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000109	T	0.15998	0.0385	L	0.41710	1.295	0.30602	N	0.760363	D	0.71674	0.998	P	0.59948	0.866	T	0.00931	-1.1510	10	0.54805	T	0.06	-22.7984	11.0958	0.48143	0.0:0.813:0.187:0.0	.	491	O95125	ZN202_HUMAN	H	491	ENSP00000337724:R491H;ENSP00000432504:R491H;ENSP00000433881:R491H	ENSP00000337724:R491H	R	-	2	0	ZNF202	123102390	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.238000	0.08977	2.474000	0.83562	0.563000	0.77884	CGC		PASS	0.458	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		50	249	50	249	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893774	123893774	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:123893774C>A	ENST00000375024.1	+	1	55	c.55C>A	c.(55-57)Cca>Aca	p.P19T		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P19T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCCCATGCCCCAGGGCTGGA	0.572																																						uc010sad.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(55-57)CCA>ACA		olfactory receptor, family 10, subfamily G,							189.0	185.0	186.0					11																	123893774		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893774C>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.55C>A	11.37:g.123893774C>A	ENSP00000364164:p.Pro19Thr						p.P19T	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	55	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	19			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.55C>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927639	0.18056	.	.	ENSG00000236981	ENST00000375024	T	0.00428	7.44	3.33	1.42	0.22433	.	0.136796	0.33670	N	0.004664	T	0.00412	0.0013	M	0.77406	2.37	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.46978	-0.9152	10	0.59425	D	0.04	.	3.8252	0.08852	0.0:0.4703:0.2797:0.25	.	19	Q8NGN4	O10G9_HUMAN	T	19	ENSP00000364164:P19T	ENSP00000364164:P19T	P	+	1	0	OR10G9	123398984	0.000000	0.05858	0.084000	0.20598	0.113000	0.19764	0.046000	0.14035	0.734000	0.32515	0.655000	0.94253	CCA		PASS	0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		30	295	30	295	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124620721	124620721	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:124620721G>T	ENST00000326621.5	-	3	416	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	VSIG2_ENST00000403470.1_Missense_Mutation_p.L106M	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	106	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L106M(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTCAGTTTCAGTGTGGCCACC	0.532																																						uc001qas.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(316-318)CTG>ATG		V-set and immunoglobulin domain containing 2							112.0	97.0	102.0					11																	124620721		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124620721G>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.316C>A	11.37:g.124620721G>T	ENSP00000318684:p.Leu106Met					VSIG2_uc001qat.2_Missense_Mutation_p.L106M	p.L106M	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	392	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	106			Extracellular (Potential).|Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.316C>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056926	0.55325	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.67865	-0.29;-0.29	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126305	0.35235	N	0.003358	D	0.82332	0.5014	M	0.87758	2.905	0.34899	D	0.746339	D	0.89917	1.0	D	0.77557	0.99	D	0.88139	0.2843	10	0.72032	D	0.01	.	11.3616	0.49646	0.0:0.0:0.8194:0.1806	.	106	Q96IQ7	VSIG2_HUMAN	M	106	ENSP00000318684:L106M;ENSP00000385013:L106M	ENSP00000318684:L106M	L	-	1	2	VSIG2	124125931	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.378000	0.34328	2.746000	0.94184	0.655000	0.94253	CTG		PASS	0.532	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		15	76	15	76	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125301131	125301131	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr11:125301131T>C	ENST00000298282.9	+	13	1533	c.1262T>C	c.(1261-1263)aTg>aCg	p.M421T	PKNOX2_ENST00000542175.1_Missense_Mutation_p.M357T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	421					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.M421T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGCAGGCTATGATGGCTGCA	0.567																																						uc001qbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1261-1263)ATG>ACG		PBX/knotted 1 homeobox 2							53.0	55.0	54.0					11																	125301131		2170	4266	6436	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301131T>C	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1262T>C	11.37:g.125301131T>C	ENSP00000298282:p.Met421Thr					PKNOX2_uc010saz.1_Missense_Mutation_p.M392T|PKNOX2_uc010sba.1_Missense_Mutation_p.M392T|PKNOX2_uc010sbb.1_Missense_Mutation_p.M357T|PKNOX2_uc001qbv.2_Missense_Mutation_p.M186T	p.M421T	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1576	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	421					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1262T>C	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759694	0.69763	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84873	-1.9;-1.9;-1.91;-1.87	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	L	0.59436	1.845	0.80722	D	1	D;P;P	0.53462	0.96;0.932;0.932	P;P;P	0.61397	0.888;0.838;0.775	D	0.90439	0.4430	10	0.66056	D	0.02	-15.6421	14.368	0.66820	0.0:0.0:0.0:1.0	.	357;392;421	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	T	392;392;421;357	ENSP00000434732:M392T;ENSP00000433971:M392T;ENSP00000298282:M421T;ENSP00000441470:M357T	ENSP00000298282:M421T	M	+	2	0	PKNOX2	124806341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.479000	0.81095	2.037000	0.60232	0.533000	0.62120	ATG		PASS	0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			10	21	10	21	---	---	---	---
SLC6A12	6539	broad.mit.edu	37	12	311986	311986	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:311986A>T	ENST00000428720.1	-	5	1153	c.410T>A	c.(409-411)cTt>cAt	p.L137H	SLC6A12_ENST00000397296.2_Missense_Mutation_p.L137H|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.L137H|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.L137H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.L137H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	137					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L137H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCCAGGCAAGGATGATGAT	0.507																																						uc001qhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)CTT>CAT		solute carrier family 6 (neurotransmitter							133.0	118.0	123.0					12																	311986		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:311986A>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.410T>A	12.37:g.311986A>T	ENSP00000388184:p.Leu137His					SLC6A12_uc001qia.2_Missense_Mutation_p.L137H|SLC6A12_uc001qib.2_Missense_Mutation_p.L137H|SLC6A12_uc009zdh.1_Missense_Mutation_p.L137H|SLC6A12_uc009zdi.1_RNA	p.L137H	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		6	953	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		137			Helical; Name=3; (Potential).		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.410T>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435915	0.83885	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95648	0.8704	10	0.87932	D	0	.	15.5614	0.76249	1.0:0.0:0.0:0.0	.	137	P48065	S6A12_HUMAN	H	137	ENSP00000352702:L137H;ENSP00000380464:L137H;ENSP00000388184:L137H;ENSP00000399136:L137H;ENSP00000444268:L137H;ENSP00000439351:L137H	ENSP00000352702:L137H	L	-	2	0	SLC6A12	182247	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.095000	0.71439	2.073000	0.62155	0.460000	0.39030	CTT		PASS	0.507	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		34	106	34	106	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1988147	1988147	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:1988147A>T	ENST00000382722.5	-	15	1981	c.1619T>A	c.(1618-1620)cTg>cAg	p.L540Q	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.L476Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L540Q|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L425Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L540Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.L476Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	540	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L540Q(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGCTTCATCAGCTCTCTCAG	0.622																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1618-1620)CTG>CAG		voltage-gated calcium channel alpha(2)delta-4							41.0	47.0	45.0					12																	1988147		2025	4182	6207	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1988147A>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1619T>A	12.37:g.1988147A>T	ENSP00000372169:p.Leu540Gln					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.L428Q	p.L540Q	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	15	1850	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	540			Cache.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1619T>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197929	0.79015	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09538	2.97	5.08	3.91	0.45181	Cache (1);	0.212628	0.40818	N	0.001013	T	0.43897	0.1268	H	0.95950	3.745	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.56171	-0.8023	10	0.87932	D	0	.	11.142	0.48408	0.8617:0.0:0.0:0.1383	.	540;540	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	Q	476;540;540	ENSP00000372169:L540Q	ENSP00000280663:L540Q	L	-	2	0	CACNA2D4	1858408	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.339000	0.96797	0.757000	0.33036	0.533000	0.62120	CTG		PASS	0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			18	48	18	48	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805076	7805076	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:7805076G>A	ENST00000229304.4	-	3	420	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	134					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L134F(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTGTTAACAAGGTCCCTGAGA	0.423																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CTT>TTT		apolipoprotein B mRNA editing enzyme							76.0	70.0	72.0					12																	7805076		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805076G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.400C>T	12.37:g.7805076G>A	ENSP00000229304:p.Leu134Phe					APOBEC1_uc001qtc.2_Missense_Mutation_p.L89F|APOBEC1_uc010sgf.1_Missense_Mutation_p.L134F	p.L134F	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	434	-			134					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.400C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885190	0.33255	.	.	ENSG00000111701	ENST00000229304	T	0.69561	-0.41	4.88	3.99	0.46301	APOBEC-like, C-terminal (1);	0.000000	0.49305	D	0.000148	D	0.83663	0.5303	M	0.92077	3.27	0.26397	N	0.97649	D	0.89917	1.0	D	0.91635	0.999	T	0.76578	-0.2908	10	0.87932	D	0	-26.674	9.5034	0.39031	0.0987:0.0:0.9013:0.0	.	134	P41238	ABEC1_HUMAN	F	134	ENSP00000229304:L134F	ENSP00000229304:L134F	L	-	1	0	APOBEC1	7696343	0.980000	0.34600	0.701000	0.30321	0.124000	0.20399	1.654000	0.37334	1.203000	0.43233	-0.258000	0.10820	CTT		PASS	0.423	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		47	144	47	144	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40012715	40012715	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:40012715C>A	ENST00000308666.3	-	1	838	c.703G>T	c.(703-705)Gta>Tta	p.V235L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	235	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.V235L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTCAGCATTACATCTAAAATA	0.473																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(703-705)GTA>TTA		ATP-binding cassette, sub-family D, member 2							130.0	125.0	127.0					12																	40012715		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012715C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.703G>T	12.37:g.40012715C>A	ENSP00000310688:p.Val235Leu						p.V235L	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	1129	-			235			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.703G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442802	0.43326	.	.	ENSG00000173208	ENST00000308666	D	0.99586	-6.23	4.96	4.96	0.65561	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	N	0.10733	0.035	0.58432	D	0.999998	B	0.20887	0.049	B	0.29353	0.101	D	0.97502	1.0061	9	.	.	.	-0.1701	18.2182	0.89893	0.0:1.0:0.0:0.0	.	235	Q9UBJ2	ABCD2_HUMAN	L	235	ENSP00000310688:V235L	.	V	-	1	0	ABCD2	38298982	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.346000	0.79347	2.280000	0.76307	0.557000	0.71058	GTA		PASS	0.473	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		67	283	67	283	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43833798	43833798	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:43833798C>T	ENST00000389420.3	-	17	2364	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V789M|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	789	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V789M(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTCCTTGCACATTGATTTCT	0.313																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2365-2367)GTG>ATG		a disintegrin-like and metalloprotease with							79.0	67.0	71.0					12																	43833798		2199	4290	6489	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833798C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2365G>A	12.37:g.43833798C>T	ENSP00000374071:p.Val789Met					ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	p.V789M	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	17	2365	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	789			Spacer.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2365G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805014	0.16467	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.54071	0.59;0.59	5.19	-1.22	0.09494	ADAM-TS Spacer 1 (1);	0.543533	0.15909	N	0.238708	T	0.51618	0.1685	M	0.77616	2.38	0.80722	D	1	P	0.36837	0.571	B	0.38921	0.285	T	0.55909	-0.8066	10	0.56958	D	0.05	.	10.0846	0.42410	0.0:0.4177:0.0:0.5823	.	789	P59510	ATS20_HUMAN	M	789	ENSP00000374071:V789M;ENSP00000448341:V789M	ENSP00000374068:V789M	V	-	1	0	ADAMTS20	42120065	0.081000	0.21417	0.974000	0.42286	0.120000	0.20174	-0.022000	0.12480	-0.063000	0.13065	0.650000	0.86243	GTG		PASS	0.313	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	10	8	10	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48238617	48238617	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:48238617T>A	ENST00000395324.2	-	10	1464	c.1196A>T	c.(1195-1197)aAg>aTg	p.K399M	VDR_ENST00000535672.1_Missense_Mutation_p.K367M|VDR_ENST00000550325.1_Missense_Mutation_p.K449M|VDR_ENST00000549336.1_Missense_Mutation_p.K399M|VDR_ENST00000229022.3_Missense_Mutation_p.K399M			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	399	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K399M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCGGTACTGCTTGGAGTGCTC	0.597																																						uc001rqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1195-1197)AAG>ATG		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						106.0	98.0	101.0					12																	48238617		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238617T>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1196A>T	12.37:g.48238617T>A	ENSP00000378734:p.Lys399Met					VDR_uc001rql.2_Missense_Mutation_p.K449M|VDR_uc001rqn.2_Missense_Mutation_p.K399M|VDR_uc010slq.1_Missense_Mutation_p.K367M	p.K399M	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1478	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	399			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.1196A>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	t	23.7	4.449971	0.84101	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	4.26	4.26	0.50523	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.109676	0.64402	D	0.000013	D	0.97561	0.9201	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.75484	0.976;0.98;0.986	D	0.97979	1.0348	10	0.72032	D	0.01	.	12.6312	0.56659	0.0:0.0:0.0:1.0	.	367;399;449	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	M	399;399;399;449;367	ENSP00000378734:K399M;ENSP00000229022:K399M;ENSP00000449573:K399M;ENSP00000447173:K449M;ENSP00000442145:K367M	ENSP00000229022:K399M	K	-	2	0	VDR	46524884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.743000	0.68655	1.926000	0.55796	0.375000	0.23000	AAG		PASS	0.597	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			23	36	23	36	---	---	---	---
CACNB3	784	broad.mit.edu	37	12	49217127	49217127	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:49217127G>T	ENST00000301050.2	+	2	245	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000540990.1_Splice_Site_p.G3C|CACNB3_ENST00000547230.1_Splice_Site_p.G16C|CACNB3_ENST00000536187.2_Splice_Site_p.G15C|CACNB3_ENST00000547392.1_Splice_Site_p.G16C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	16					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G15C(1)|p.G16C(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCAACCCAGGGTTCAGCCGA	0.612																																						uc001rsl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(46-48)GGT>TGT		calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)						48.0	45.0	46.0					12																	49217127		2203	4300	6503	SO:0001630	splice_region_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49217127G>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.46-1G>T	12.37:g.49217127G>T						CACNB3_uc010slx.1_Missense_Mutation_p.G3C|CACNB3_uc010sly.1_Missense_Mutation_p.G3C|CACNB3_uc010slz.1_Missense_Mutation_p.G15C|CACNB3_uc001rsk.1_5'UTR	p.G16C	NM_000725	NP_000716	P54284	CACB3_HUMAN			2	247	+			16					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.46G>T	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363046	0.82353	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000547230	D;D;T;D;D;T	0.86497	-2.04;-2.13;-1.41;-1.53;-1.74;-0.6	4.41	4.41	0.53225	.	0.057319	0.64402	D	0.000002	D	0.93478	0.7919	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.977;0.997;0.981	D	0.93927	0.7211	9	.	.	.	-10.4042	15.9325	0.79675	0.0:0.0:1.0:0.0	.	15;3;3;16	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	C	3;15;16;16;16;16	ENSP00000445495:G3C;ENSP00000444160:G15C;ENSP00000446529:G16C;ENSP00000301050:G16C;ENSP00000449497:G16C;ENSP00000448304:G16C	.	G	+	1	0	CACNB3	47503394	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.602000	0.98312	2.292000	0.77174	0.313000	0.20887	GGT		PASS	0.612	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		Missense_Mutation	21	47	21	47	---	---	---	---
CSRNP2	81566	broad.mit.edu	37	12	51470288	51470288	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:51470288G>A	ENST00000228515.1	-	2	354	c.57C>T	c.(55-57)ggC>ggT	p.G19G	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	19					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G19G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AAACTGATGAGCCCACATCCA	0.532																																						uc001rxu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)GGC>GGT		TGF-beta induced apoptosis protein 12							207.0	178.0	188.0					12																	51470288		2203	4300	6503	SO:0001819	synonymous_variant	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51470288G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.57C>T	12.37:g.51470288G>A							p.G19G	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			2	355	-			19						Silent	SNP	ENST00000228515.1	37	c.57C>T	CCDS8807.1																																																																																				PASS	0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			48	86	48	86	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58126629	58126629	+	Splice_Site	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:58126629C>G	ENST00000547588.1	-	6	1682	c.1683G>C	c.(1681-1683)gaG>gaC	p.E561D	AGAP2_ENST00000257897.3_Splice_Site_p.E225D	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	561	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.E225E(1)|p.E225D(1)|p.E561D(1)|p.E561E(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TACACTCACCCTCCTGGAAGA	0.557																																						uc001spq.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	central_nervous_system(3)|breast(2)	5						c.(1681-1683)GAG>GAC		centaurin, gamma 1 isoform PIKE-L							281.0	271.0	274.0					12																	58126629		2203	4300	6503	SO:0001630	splice_region_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126629C>G	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1684+1G>C	12.37:g.58126629C>G						AGAP2_uc001spp.2_Missense_Mutation_p.E561D|AGAP2_uc001spr.2_Missense_Mutation_p.E225D	p.E561D	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			6	1683	-			561			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1683G>C	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.560|3.560	-0.089850|-0.089850	0.07053|0.07053	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.25749|.	1.78;1.78|.	4.9|4.9	3.08|3.08	0.35506|0.35506	.|.	0.057276|.	0.64402|.	D|.	0.000002|.	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.04787|0.04787	-0.16|-0.16	0.45366|0.45366	D|D	0.998354|0.998354	B;B;B|.	0.12013|.	0.005;0.001;0.001|.	B;B;B|.	0.15052|.	0.01;0.012;0.007|.	T|T	0.04320|0.04320	-1.0960|-1.0960	10|5	0.02654|.	T|.	1|.	.|.	5.3231|5.3231	0.15891|0.15891	0.0:0.6516:0.0:0.3484|0.0:0.6516:0.0:0.3484	.|.	225;561;561|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	D|R	225;561|425	ENSP00000257897:E225D;ENSP00000449241:E561D|.	ENSP00000257897:E225D|.	E|G	-|-	3|1	2|0	AGAP2|AGAP2	56412896|56412896	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-2.019000|-2.019000	0.01442|0.01442	1.441000|1.441000	0.47550|0.47550	0.655000|0.655000	0.94253|0.94253	GAG|GGT		PASS	0.557	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	Missense_Mutation	186	314	186	314	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78571420	78571420	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:78571420C>G	ENST00000397909.2	+	28	5491	c.5318C>G	c.(5317-5319)cCa>cGa	p.P1773R	NAV3_ENST00000536525.2_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1773						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTCTGGCCACCAAAGAAACGA	0.428										HNSCC(70;0.22)																												uc001syp.2																			0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5317-5319)CCA>CGA		neuron navigator 3							72.0	63.0	66.0					12																	78571420		876	1991	2867	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78571420C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5318C>G	12.37:g.78571420C>G	ENSP00000381007:p.Pro1773Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron	p.P1773R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			28	5491	+			1773					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5318C>G		.	.	.	.	.	.	.	.	.	.	C	13.72	2.322143	0.41096	.	.	ENSG00000067798	ENST00000397909	T	0.26067	1.76	5.88	5.88	0.94601	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.80722	D	1	P	0.46706	0.883	B	0.43508	0.422	T	0.01356	-1.1376	8	0.15066	T	0.55	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	1773	Q8IVL0	NAV3_HUMAN	R	1773	ENSP00000381007:P1773R	ENSP00000381007:P1773R	P	+	2	0	NAV3	77095551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.263000	0.78421	2.789000	0.95967	0.591000	0.81541	CCA		PASS	0.428	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	41	19	41	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089529	104089529	+	Silent	SNP	G	G	T	rs146946520	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:104089529G>T	ENST00000388887.2	+	33	3693	c.3489G>T	c.(3487-3489)gcG>gcT	p.A1163A		NM_017564.9	NP_060034.9			stabilin 2									p.A1163A(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						ATAATCTGGCGAATGCAATTG	0.468																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(3487-3489)GCG>GCT		stabilin 2 precursor							102.0	95.0	98.0					12																	104089529		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:104089529G>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.3489G>T	12.37:g.104089529G>T							p.A1163A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			33	3675	+			1163			Extracellular (Potential).|FAS1 4.			Silent	SNP	ENST00000388887.2	37	c.3489G>T	CCDS31888.1																																																																																				PASS	0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			37	60	37	60	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109523484	109523484	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:109523484C>T	ENST00000257548.5	+	13	1395	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	USP30_ENST00000392784.2_Silent_p.Y403Y	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	434	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y425Y(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCTCCACATACCTCTTCCGGC	0.453																																						uc010sxi.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1300-1302)TAC>TAT		ubiquitin specific peptidase 30							144.0	128.0	133.0					12																	109523484		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109523484C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1302C>T	12.37:g.109523484C>T						USP30_uc001tnu.3_Silent_p.Y403Y|USP30_uc001tnw.3_Silent_p.Y151Y	p.Y434Y	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			13	1406	+			434			Cytoplasmic (Potential).		Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1302C>T	CCDS9123.2																																																																																				PASS	0.453	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		83	131	83	131	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124343715	124343715	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr12:124343715A>T	ENST00000409039.3	+	37	6320	c.6295A>T	c.(6295-6297)Atg>Ttg	p.M2099L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2099	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M691L(1)|p.M2099L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGGTTCAAATGTTCGAGAC	0.507																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6295-6297)ATG>TTG		dynein, axonemal, heavy chain 10							41.0	41.0	41.0					12																	124343715		1888	4113	6001	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124343715A>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6295A>T	12.37:g.124343715A>T	ENSP00000386770:p.Met2099Leu						p.M2099L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	37	6320	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2099			AAA 2 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6295A>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	6.413	0.444321	0.12164	.	.	ENSG00000197653	ENST00000409039	T	0.37411	1.2	5.4	1.44	0.22558	.	0.065752	0.56097	U	0.000021	T	0.06508	0.0167	N	0.00355	-1.605	0.43091	D	0.994769	B	0.02656	0.0	B	0.04013	0.001	T	0.32851	-0.9891	10	0.02654	T	1	.	4.1555	0.10258	0.6748:0.1307:0.0693:0.1252	.	2099	Q8IVF4	DYH10_HUMAN	L	2099	ENSP00000386770:M2099L	ENSP00000386770:M2099L	M	+	1	0	DNAH10	122909668	1.000000	0.71417	0.990000	0.47175	0.964000	0.63967	3.336000	0.52113	0.338000	0.23692	0.456000	0.33151	ATG		PASS	0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			25	22	25	22	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28841467	28841467	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr13:28841467G>C	ENST00000380958.3	+	12	1873	c.1721G>C	c.(1720-1722)gGa>gCa	p.G574A	PAN3_ENST00000399613.1_Missense_Mutation_p.G374A|PAN3_ENST00000282391.5_Missense_Mutation_p.G262A	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.G374A(1)|p.G574A(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCCATGCTGGAGGAGAAACT	0.388																																						uc001urz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1282-1284)GGA>GCA		PABP1-dependent poly A-specific ribonuclease							139.0	129.0	132.0					13																	28841467		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28841467G>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1721G>C	13.37:g.28841467G>C	ENSP00000370345:p.Gly574Ala					PAN3_uc010tdo.1_Missense_Mutation_p.G574A|PAN3_uc001ury.2_Missense_Mutation_p.G262A|PAN3_uc001urx.2_Missense_Mutation_p.G374A	p.G428A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	11	1291	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	574			Protein kinase.|Interaction with PAN2.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1283G>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623337	0.66901	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.39997	1.05;1.05;1.05	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048189	0.85682	D	0.000000	T	0.58524	0.2128	L	0.56199	1.76	0.80722	D	1	P;D;D;D	0.76494	0.729;0.999;0.987;0.999	P;D;P;D	0.70935	0.621;0.971;0.856;0.96	T	0.48007	-0.9072	10	0.12766	T	0.61	-10.3832	19.5331	0.95237	0.0:0.0:1.0:0.0	.	574;574;262;520	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	A	574;374;262	ENSP00000370345:G574A;ENSP00000382522:G374A;ENSP00000282391:G262A	ENSP00000282391:G262A	G	+	2	0	PAN3	27739467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	GGA		PASS	0.388	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		38	83	38	83	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20837529	20837529	+	Missense_Mutation	SNP	G	G	A	rs372031810		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:20837529G>A	ENST00000262715.5	-	53	7670	c.7630C>T	c.(7630-7632)Cat>Tat	p.H2544Y	TEP1_ENST00000556935.1_Missense_Mutation_p.H2436Y	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2544					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.H2544Y(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCTTTAGATGTGGTGTTGGC	0.522																																						uc001vxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(7630-7632)CAT>TAT		telomerase-associated protein 1		G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	165.0	143.0	150.0		7630	-8.5	0.0	14		150	0,8600		0,0,4300	no	missense	TEP1	NM_007110.4	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2544/2628	20837529	1,13005	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20837529G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7630C>T	14.37:g.20837529G>A	ENSP00000262715:p.His2544Tyr					TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Missense_Mutation_p.H1887Y|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H2436Y	p.H2544Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	53	7670	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2544					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7630C>T	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.115|6.115	0.389395|0.389395	0.11581|0.11581	2.27E-4|2.27E-4	0.0|0.0	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.46451|.	0.9;0.87|.	4.25|4.25	-8.5|-8.5	0.00927|0.00927	WD40/YVTN repeat-like-containing domain (1);|.	4.087260|.	0.00397|.	N|.	0.000050|.	T|T	0.12987|0.12987	0.0315|0.0315	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.31730|.	0.337;0.086;0.227|.	B;B;B|.	0.25987|.	0.065;0.065;0.03|.	T|T	0.09335|0.09335	-1.0679|-1.0679	10|5	0.56958|.	D|.	0.05|.	23.7428|23.7428	6.5331|6.5331	0.22338|0.22338	0.1873:0.5687:0.0967:0.1473|0.1873:0.5687:0.0967:0.1473	.|.	2436;1887;2544|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	Y|I	2544;2536;2436|200	ENSP00000262715:H2544Y;ENSP00000452574:H2436Y|.	ENSP00000262715:H2544Y|.	H|T	-|-	1|2	0|0	TEP1|TEP1	19907369|19907369	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-6.042000|-6.042000	0.00084|0.00084	-4.573000|-4.573000	0.00041|0.00041	-0.340000|-0.340000	0.08031|0.08031	CAT|ACA		PASS	0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		79	88	79	88	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192164	22192164	+	RNA	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:22192164C>T	ENST00000390425.2	+	0	205									T cell receptor alpha variable 3 (gene/pseudogene)																		TCGATGCTTGCGATGCTCTTC	0.547																																						uc001wbn.2																			0													Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.							206.0	201.0	203.0					14																	22192164		2024	4193	6217			0							g.chr14:22192164C>T	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192164C>T														1		+									RNA	SNP	ENST00000390425.2	37	c.157C>T																																																																																					PASS	0.547	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		173	215	173	215	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746090	23746090	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:23746090G>T	ENST00000357460.5	-	2	511	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	HOMEZ_ENST00000431326.2_Missense_Mutation_p.S118Y|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S118Y	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S92Y(1)|p.S116Y(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TATTTCTTCAGATGACCAGCT	0.517																																						uc001wja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(346-348)TCT>TAT		homeodomain leucine zipper protein							155.0	151.0	152.0					14																	23746090		1896	4113	6009	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746090G>T	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.347C>A	14.37:g.23746090G>T	ENSP00000350049:p.Ser116Tyr					HOMEZ_uc001wjb.2_Missense_Mutation_p.S118Y	p.S116Y	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	495	-	all_cancers(95;5.54e-06)		116					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.347C>A	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008044	0.75046	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.27256	1.68;1.68	6.17	6.17	0.99709	Homeobox (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	L	0.55481	1.735	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	T	0.30822	-0.9965	10	0.62326	D	0.03	-11.1251	19.6509	0.95805	0.0:0.0:1.0:0.0	.	118;116	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Y	116;118	ENSP00000350049:S116Y;ENSP00000406579:S118Y	ENSP00000350049:S116Y	S	-	2	0	HOMEZ	22815930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.749000	0.91619	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.517	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		25	281	25	281	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746113	23746113	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:23746113G>A	ENST00000357460.5	-	2	488	c.324C>T	c.(322-324)ctC>ctT	p.L108L	HOMEZ_ENST00000431326.2_Silent_p.L110L|HOMEZ_ENST00000561013.1_Silent_p.L110L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L108L(1)|p.L84L(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACCACAGCGGAGGCGCTGGG	0.498																																						uc001wja.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(322-324)CTC>CTT		homeodomain leucine zipper protein							180.0	173.0	176.0					14																	23746113		1940	4140	6080	SO:0001819	synonymous_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746113G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.324C>T	14.37:g.23746113G>A						HOMEZ_uc001wjb.2_Silent_p.L110L	p.L108L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	472	-	all_cancers(95;5.54e-06)		108			Homeobox 1.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	c.324C>T	CCDS45085.1																																																																																				PASS	0.498	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		43	268	43	268	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23746358	23746358	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:23746358G>A	ENST00000357460.5	-	2	243	c.79C>T	c.(79-81)Cct>Tct	p.P27S	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P29S|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P29S	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P3S(1)|p.P27S(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCTTTATTAGGAGGCATGGTG	0.517																																						uc001wja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)CCT>TCT		homeodomain leucine zipper protein							60.0	56.0	57.0					14																	23746358		1978	4152	6130	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746358G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.79C>T	14.37:g.23746358G>A	ENSP00000350049:p.Pro27Ser					HOMEZ_uc001wjb.2_Missense_Mutation_p.P29S	p.P27S	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	227	-	all_cancers(95;5.54e-06)		27					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.79C>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586150	0.66105	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.27256	1.68;1.69	5.95	5.95	0.96441	.	0.138948	0.47093	D	0.000249	T	0.35653	0.0939	N	0.14661	0.345	0.41576	D	0.988716	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.17471	-1.0368	10	0.44086	T	0.13	-9.6435	17.3099	0.87206	0.0:0.0:1.0:0.0	.	29;27	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	S	27;29	ENSP00000350049:P27S;ENSP00000406579:P29S	ENSP00000350049:P27S	P	-	1	0	HOMEZ	22816198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.803000	0.55560	2.824000	0.97209	0.655000	0.94253	CCT		PASS	0.517	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		6	28	6	28	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360618	42360619	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:42360618_42360619CC>AT	ENST00000298119.4	+	4	2740_2741	c.1551_1552CC>AT	c.(1549-1554)tgCCat>tgATat	p.517_518CH>*Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	517						integral component of membrane (GO:0016021)		p.C517_H518>*(1)|p.H518Y(1)|p.C517*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGTGCGTTGCCATTTCATGCA	0.436										HNSCC(30;0.082)																												uc001wvm.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - deletion inframe(1)		lung(3)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1549-1551)TGC>TGA|c.(1552-1554)CAT>TAT		leucine rich repeat and fibronectin type III																																				SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42360618C>A|g.chr14:42360619C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	Exception_encountered	14.37:g.42360618_42360619delinsAT	ENSP00000298119:p.C517_H518delins*Y	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.C517*|p.H518Y	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2749|2750	+			517|518			Extracellular (Potential).		B3KU78|Q86XL2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000298119.4	37	c.1551C>A|c.1552C>T	CCDS9678.1																																																																																				PASS	0.436	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		76	324|327	76	324	---	---	---	---
NEMF	9147	broad.mit.edu	37	14	50266381	50266381	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:50266381C>A	ENST00000298310.5	-	24	2837	c.2388G>T	c.(2386-2388)ttG>ttT	p.L796F	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.L775F|NEMF_ENST00000545773.1_Missense_Mutation_p.L754F			O60524	NEMF_HUMAN	nuclear export mediator factor	796					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.L796F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTTGAAGCCAATTTCTGGA	0.328																																						uc001wxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2386-2388)TTG>TTT		serologically defined colon cancer antigen 1							63.0	67.0	66.0					14																	50266381		2203	4298	6501	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50266381C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2388G>T	14.37:g.50266381C>A	ENSP00000298310:p.Leu796Phe					SDCCAG1_uc010anj.1_Missense_Mutation_p.L796F|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Missense_Mutation_p.L76F|SDCCAG1_uc010tqi.1_Missense_Mutation_p.L775F|SDCCAG1_uc001wxe.2_Missense_Mutation_p.L754F|SDCCAG1_uc001wxd.1_Missense_Mutation_p.L201F	p.L796F	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	24	2456	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	796					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2388G>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986014	0.35036	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44482	0.92;0.92;0.93;0.93	5.6	2.78	0.32641	.	0.352331	0.26638	N	0.023267	T	0.33323	0.0859	L	0.53249	1.67	0.21325	N	0.999721	P;B;B;P	0.42296	0.775;0.244;0.244;0.61	B;B;B;B	0.39379	0.298;0.138;0.138;0.048	T	0.28138	-1.0053	10	0.56958	D	0.05	-7.2057	5.1432	0.14971	0.0:0.5886:0.1736:0.2378	.	775;771;754;796	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	F	796;754;775;568;754	ENSP00000298310:L796F;ENSP00000438309:L754F;ENSP00000441016:L775F;ENSP00000452540:L754F	ENSP00000298310:L796F	L	-	3	2	NEMF	49336131	0.211000	0.23529	0.992000	0.48379	0.869000	0.49853	0.390000	0.20768	1.370000	0.46153	0.591000	0.81541	TTG		PASS	0.328	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		23	117	23	117	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73238591	73238591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:73238591G>A	ENST00000556509.1	-	2	42	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	DPF3_ENST00000546183.1_Nonsense_Mutation_p.Q25*|DPF3_ENST00000541685.1_Nonsense_Mutation_p.Q15*	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	15					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.Q15*(2)|p.Q14*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTGTAGAACTGGTCCCCGAGC	0.587																																						uc001xnc.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)	1						c.(43-45)CAG>TAG		D4, zinc and double PHD fingers, family 3							24.0	26.0	25.0					14																	73238591		2137	4260	6397	SO:0001587	stop_gained	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73238591G>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.43C>T	14.37:g.73238591G>A	ENSP00000450518:p.Gln15*					DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Nonsense_Mutation_p.Q15*|DPF3_uc010ttq.1_Nonsense_Mutation_p.Q25*	p.Q15*	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	56	-			15					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Nonsense_Mutation	SNP	ENST00000556509.1	37	c.43C>T		.	.	.	.	.	.	.	.	.	.	g	37	6.598349	0.97692	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.5011	0.95095	0.0:0.0:1.0:0.0	.	.	.	.	X	15;15;14;15;25	.	ENSP00000381791:Q70X	Q	-	1	0	DPF3	72308344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.397000	0.73239	2.619000	0.88677	0.651000	0.88453	CAG		PASS	0.587	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			6	22	6	22	---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91252558	91252558	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:91252558C>T	ENST00000328459.6	-	2	357	c.236G>A	c.(235-237)cGc>cAc	p.R79H	TTC7B_ENST00000357056.2_Missense_Mutation_p.R79H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	79								p.R79H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGATGCTTGCGGACCTCAGT	0.642																																						uc001xyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(235-237)CGC>CAC		tetratricopeptide repeat domain 7B							45.0	46.0	46.0					14																	91252558		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91252558C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.236G>A	14.37:g.91252558C>T	ENSP00000336127:p.Arg79His						p.R79H	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			2	358	-		Melanoma(154;0.222)	79					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.236G>A	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491245	0.84962	.	.	ENSG00000165914	ENST00000357056;ENST00000328459	T;T	0.39056	1.79;1.1	5.56	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.35508	0.0934	L	0.53249	1.67	0.49798	D	0.999823	P	0.42337	0.776	B	0.34590	0.186	T	0.28299	-1.0048	10	0.59425	D	0.04	-10.7187	11.4956	0.50406	0.0:0.8558:0.0:0.1442	.	79	Q86TV6	TTC7B_HUMAN	H	79	ENSP00000349564:R79H;ENSP00000336127:R79H	ENSP00000336127:R79H	R	-	2	0	TTC7B	90322311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.570000	0.53834	1.335000	0.45486	0.655000	0.94253	CGC		PASS	0.642	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			15	59	15	59	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100166358	100166358	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:100166358C>T	ENST00000261835.3	+	5	467	c.363C>T	c.(361-363)ttC>ttT	p.F121F	CYP46A1_ENST00000423126.2_Silent_p.F24F	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	121					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.F121F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				ACAGACTCTTCGGCCAAGGCT	0.592																																						uc001ygo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)TTC>TTT		cytochrome P450, family 46							81.0	63.0	69.0					14																	100166358		2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166358C>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.363C>T	14.37:g.100166358C>T						CYP46A1_uc001ygn.1_Silent_p.F83F	p.F121F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			5	363	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	121					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.363C>T	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	C	2.561	-0.301942	0.05495	.	.	ENSG00000036530	ENST00000380228	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.49626	0.1568	.	.	.	0.48696	D	0.999695	.	.	.	.	.	.	T	0.60979	-0.7155	4	.	.	.	.	10.7312	0.46098	0.0979:0.5498:0.0:0.3523	.	.	.	.	W	108	.	.	R	+	1	2	CYP46A1	99236111	0.078000	0.21339	0.179000	0.23059	0.396000	0.30629	-1.836000	0.01690	-2.232000	0.00717	-2.136000	0.00340	CGG		PASS	0.592	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			12	57	12	57	---	---	---	---
DIO3	1735	broad.mit.edu	37	14	102028122	102028122	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:102028122G>A	ENST00000510508.4	+	1	435	c.289G>A	c.(289-291)Gac>Aac	p.D97N	DIO3_ENST00000359323.3_Missense_Mutation_p.D71N|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	97					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.D71N(1)|p.D97N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCCTCCCGATGACCCGCCCAT	0.642																																						uc010txq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(211-213)GAC>AAC		deiodinase, iodothyronine, type III							42.0	48.0	46.0					14																	102028122		1998	4144	6142	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028122G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.289G>A	14.37:g.102028122G>A	ENSP00000427336:p.Asp97Asn					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.D71N	NM_001362	NP_001353	P55073	IOD3_HUMAN			1	435	+		all_neural(303;0.185)	71			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.211G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	26.0	4.691715	0.88735	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.32272	1.46;1.46	3.21	3.21	0.36854	.	0.000000	0.56097	U	0.000029	T	0.44307	0.1287	L	0.39397	1.21	0.43025	D	0.994586	D	0.76494	0.999	D	0.78314	0.991	T	0.41716	-0.9493	10	0.49607	T	0.09	.	13.5596	0.61782	0.0:0.0:1.0:0.0	.	71	P55073	IOD3_HUMAN	N	71;97	ENSP00000352273:D71N;ENSP00000427336:D97N	ENSP00000352273:D97N	D	+	1	0	DIO3;AL049836.1	101097875	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.300000	0.96151	1.608000	0.50180	0.457000	0.33378	GAC		PASS	0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		12	78	12	78	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105849743	105849743	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr14:105849743C>T	ENST00000325438.8	+	16	2165	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	PACS2_ENST00000551743.1_Missense_Mutation_p.A68V|PACS2_ENST00000447393.1_Missense_Mutation_p.A558V|PACS2_ENST00000430725.2_Missense_Mutation_p.A479V|PACS2_ENST00000547217.1_Missense_Mutation_p.A524V|PACS2_ENST00000458164.2_Missense_Mutation_p.A558V			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	554					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.A554V(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ATCGCCGTGGCGGGAGCGCAG	0.642																																						uc001yqt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1660-1662)GCG>GTG		phosphofurin acidic cluster sorting protein 2							61.0	61.0	61.0					14																	105849743		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849743C>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1661C>T	14.37:g.105849743C>T	ENSP00000321834:p.Ala554Val					PACS2_uc001yqs.2_Missense_Mutation_p.A479V|PACS2_uc001yqv.2_Missense_Mutation_p.A558V|PACS2_uc001yqu.2_Missense_Mutation_p.A558V	p.A554V	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	16	1836	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	554					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1661C>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053705	0.36277	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	4.17	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.33189	0.99	0.58432	D	0.999999	B;P;D;D	0.89917	0.369;0.518;0.998;1.0	B;B;P;D	0.83275	0.216;0.23;0.859;0.996	T	0.33445	-0.9868	10	0.02654	T	1	-32.3445	11.0478	0.47870	0.0:0.905:0.0:0.095	.	558;558;554;555	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	V	479;554;558;558;524;68	ENSP00000393524:A479V;ENSP00000321834:A554V;ENSP00000399732:A558V;ENSP00000393559:A558V;ENSP00000449525:A524V;ENSP00000449254:A68V	ENSP00000321834:A554V	A	+	2	0	PACS2	104920788	1.000000	0.71417	0.832000	0.32986	0.957000	0.61999	5.858000	0.69532	0.868000	0.35678	0.462000	0.41574	GCG		PASS	0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		16	63	16	63	---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38591692	38591692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:38591692G>T	ENST00000299084.4	+	2	1011	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	51	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.E51*(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCCTCATCAGGAAGAGAATGG	0.438									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(151-153)GAA>TAA		sprouty-related protein 1 with EVH-1 domain							129.0	111.0	117.0					15																	38591692		2200	4297	6497	SO:0001587	stop_gained	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591692G>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.151G>T	15.37:g.38591692G>T	ENSP00000299084:p.Glu51*						p.E51*	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	486	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	51			WH1.		B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	ENST00000299084.4	37	c.151G>T	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	37	6.283062	0.97440	.	.	ENSG00000166068	ENST00000299084	.	.	.	5.72	5.72	0.89469	.	0.160187	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.5449	19.8868	0.96915	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000299084:E51X	E	+	1	0	SPRED1	36378984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.709000	0.92574	0.655000	0.94253	GAA		PASS	0.438	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			37	78	37	78	---	---	---	---
FRMD5	84978	broad.mit.edu	37	15	44211710	44211710	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:44211710G>A	ENST00000417257.1	-	4	452	c.276C>T	c.(274-276)ttC>ttT	p.F92F	FRMD5_ENST00000402883.1_Silent_p.F92F|FRMD5_ENST00000484674.1_Silent_p.F3F	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.F92F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACTTCACACGGAAGCACATGG	0.522																																						uc001ztl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(274-276)TTC>TTT		FERM domain containing 5 isoform 2							149.0	151.0	150.0					15																	44211710		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44211710G>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.276C>T	15.37:g.44211710G>A						FRMD5_uc001ztk.1_Silent_p.F3F|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	p.F92F	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	4	453	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	92			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.276C>T	CCDS10107.2																																																																																				PASS	0.522	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		95	160	95	160	---	---	---	---
CYP11A1	1583	broad.mit.edu	37	15	74637456	74637456	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:74637456C>T	ENST00000268053.6	-	3	708	c.554G>A	c.(553-555)cGc>cAc	p.R185H	CYP11A1_ENST00000358632.4_Missense_Mutation_p.R27H|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R27H	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	185					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R185H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTTCTTGATGCGCCTGTGCAG	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)CGC>CAC		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						88.0	84.0	85.0					15																	74637456		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637456C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.554G>A	15.37:g.74637456C>T	ENSP00000268053:p.Arg185His					CYP11A1_uc002axs.2_Missense_Mutation_p.R27H|CYP11A1_uc010bjm.1_Missense_Mutation_p.R27H|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.R185H|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.2_Missense_Mutation_p.R185H	p.R185H	NM_000781	NP_000772	P05108	CP11A_HUMAN			3	709	-			185					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.554G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668563	0.47677	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.68903	-0.36;-0.36;-0.36	4.37	4.37	0.52481	.	0.165365	0.53938	D	0.000057	T	0.60521	0.2275	M	0.78344	2.41	0.80722	D	1	P;P;P	0.41910	0.764;0.583;0.616	B;B;B	0.34991	0.193;0.11;0.065	T	0.64795	-0.6323	10	0.46703	T	0.11	-17.2513	7.0912	0.25285	0.0:0.8342:0.0:0.1658	.	185;155;185	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	H	185;27;27;97	ENSP00000268053:R185H;ENSP00000351455:R27H;ENSP00000405488:R27H	ENSP00000268053:R185H	R	-	2	0	CYP11A1	72424509	1.000000	0.71417	0.998000	0.56505	0.495000	0.33615	1.438000	0.35002	1.977000	0.57605	0.549000	0.68633	CGC		PASS	0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			4	82	4	82	---	---	---	---
RCN2	5955	broad.mit.edu	37	15	77236139	77236139	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:77236139A>G	ENST00000394885.3	+	4	711	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	RCN2_ENST00000320963.5_Missense_Mutation_p.Q181R|RCN2_ENST00000394883.3_Missense_Mutation_p.Q62R	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	163	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)	p.Q163R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						AAAGCTAACCAGGATTCAGGT	0.308																																						uc002bcd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)CAG>CGG		reticulocalbin 2 precursor							74.0	77.0	76.0					15																	77236139		2196	4294	6490	SO:0001583	missense	5955					endoplasmic reticulum lumen	calcium ion binding	g.chr15:77236139A>G	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.488A>G	15.37:g.77236139A>G	ENSP00000378349:p.Gln163Arg					RCN2_uc002bce.2_Missense_Mutation_p.Q235R|RCN2_uc010bks.2_Missense_Mutation_p.Q116R	p.Q163R	NM_002902	NP_002893	Q14257	RCN2_HUMAN			4	709	+			163			EF-hand 3.|3; possibly ancestral (Potential).		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	c.488A>G	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320998	0.23994	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.53857	0.6;0.6;0.6	6.17	5.06	0.68205	EF-hand-like domain (1);	0.361279	0.30686	N	0.009085	T	0.22551	0.0544	N	0.02721	-0.515	0.27806	N	0.942301	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.14062	-1.0486	10	0.14656	T	0.56	-24.0017	5.6231	0.17467	0.7883:0.0:0.2117:0.0	.	62;181;163	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	R	163;181;62	ENSP00000378349:Q163R;ENSP00000319739:Q181R;ENSP00000378347:Q62R	ENSP00000319739:Q181R	Q	+	2	0	RCN2	75023194	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.815000	0.38981	2.371000	0.80710	0.533000	0.62120	CAG		PASS	0.308	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		18	60	18	60	---	---	---	---
HYKK	123688	broad.mit.edu	37	15	78805425	78805425	+	Splice_Site	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:78805425G>T	ENST00000388988.4	+	2	108		c.e2-1		HYKK_ENST00000569878.1_5'Flank|HYKK_ENST00000566332.1_Splice_Site|HYKK_ENST00000408962.2_Splice_Site|HYKK_ENST00000360519.3_Splice_Site|HYKK_ENST00000563233.1_5'Flank	NM_001013619.2	NP_001013641.2	A2RU49	HYKK_HUMAN	hydroxylysine kinase							cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										TGTTCCCCTAGACATAATGTC	0.398																																						uc010unc.1																			0					0						c.e2-1		aminoglycoside phosphotransferase domain							49.0	47.0	48.0					15																	78805425		1970	4161	6131	SO:0001630	splice_region_variant	123688					cytoplasm	kinase activity	g.chr15:78805425G>T	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000388988.4:c.-5-1G>T	15.37:g.78805425G>T						AGPHD1_uc002bdt.2_Splice_Site|AGPHD1_uc010ble.2_Splice_Site		NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN			2	109	+								B7ZMA5|F8W6X5|Q6ZTN0	Splice_Site	SNP	ENST00000388988.4	37	c.-4_splice	CCDS42063.1																																																																																				PASS	0.398	HYKK-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001013619	Intron	3	49	3	49	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20693666	20693666	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr16:20693666T>C	ENST00000307493.4	-	3	590	c.523A>G	c.(523-525)Ata>Gta	p.I175V	ACSM1_ENST00000520010.1_Missense_Mutation_p.I175V|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	175					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.I175V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGAGAAGCTATGGAGTCCACC	0.522																																						uc002dhm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(523-525)ATA>GTA		acyl-CoA synthetase medium-chain family member							92.0	81.0	85.0					16																	20693666		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20693666T>C	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.523A>G	16.37:g.20693666T>C	ENSP00000301956:p.Ile175Val					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.I175V	p.I175V	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			3	591	-			175					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.523A>G	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.091973	0.00364	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.48201	0.82;0.82	4.91	-1.76	0.08006	AMP-dependent synthetase/ligase (1);	0.579783	0.15507	N	0.258726	T	0.14313	0.0346	N	0.02539	-0.55	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38993	-0.9635	10	0.02654	T	1	.	5.7598	0.18192	0.0:0.3312:0.2555:0.4134	.	175	Q08AH1	ACSM1_HUMAN	V	175	ENSP00000301956:I175V;ENSP00000428047:I175V	ENSP00000301956:I175V	I	-	1	0	ACSM1	20601167	0.005000	0.15991	0.008000	0.14137	0.032000	0.12392	0.040000	0.13905	-0.127000	0.11661	-0.237000	0.12165	ATA		PASS	0.522	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		38	62	38	62	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21078624	21078624	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr16:21078624C>A	ENST00000261383.3	-	24	3497	c.3498G>T	c.(3496-3498)aaG>aaT	p.K1166N	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1166N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1166	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.K1166N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAGTCTCTTCTTCTCCAAGT	0.438																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3496-3498)AAG>AAT		dynein, axonemal, heavy chain 3							82.0	84.0	83.0					16																	21078624		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078624C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3498G>T	16.37:g.21078624C>A	ENSP00000261383:p.Lys1166Asn						p.K1166N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3498	-			1166			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3498G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605725	0.66445	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62105	0.05;0.05	5.64	4.7	0.59300	Dynein heavy chain, domain-2 (1);	0.190565	0.43919	D	0.000510	T	0.70307	0.3209	M	0.66560	2.04	0.54753	D	0.999988	P	0.44344	0.833	P	0.51170	0.661	T	0.72250	-0.4348	10	0.49607	T	0.09	.	14.5395	0.67982	0.0:0.9298:0.0:0.0702	.	1166	Q8TD57	DYH3_HUMAN	N	1166	ENSP00000261383:K1166N;ENSP00000394245:K1166N	ENSP00000261383:K1166N	K	-	3	2	DNAH3	20986125	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.817000	0.55668	1.391000	0.46566	-0.154000	0.13518	AAG		PASS	0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	75	20	75	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76587245	76587245	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr16:76587245G>A	ENST00000476707.1	+	21	3656	c.3517G>A	c.(3517-3519)Gca>Aca	p.A1173T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A1121T|RP11-58C22.1_ENST00000563764.1_5'Flank|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A1097T|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A1169T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1170	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.A1097T(1)|p.A1169T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTGCCTCTCTGCAGTGCAGCT	0.547																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3508-3510)GCA>ACA		cell recognition protein CASPR4 isoform 1							33.0	37.0	35.0					16																	76587245		2057	4206	6263	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76587245G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3517G>A	16.37:g.76587245G>A	ENSP00000417628:p.Ala1173Thr					CNTNAP4_uc002fev.1_Missense_Mutation_p.A1034T|CNTNAP4_uc010chb.1_Missense_Mutation_p.A1097T|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1173T	p.A1170T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			24	3893	+			1170			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3508G>A		.	.	.	.	.	.	.	.	.	.	G	18.55	3.648330	0.67358	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.32	4.31	0.51392	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.185747	0.26251	N	0.025444	T	0.74974	0.3787	.	.	.	0.23708	N	0.997053	P;P;P	0.42584	0.494;0.675;0.784	B;P;P	0.48921	0.297;0.595;0.559	T	0.64630	-0.6362	9	0.27082	T	0.32	.	11.253	0.49037	0.0:0.0:0.6501:0.3499	.	1097;1173;1170	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	1169;1121;1097;1173	ENSP00000306893:A1169T;ENSP00000439733:A1121T;ENSP00000418741:A1097T;ENSP00000417628:A1173T	ENSP00000306893:A1169T	A	+	1	0	CNTNAP4	75144746	0.965000	0.33210	0.462000	0.27118	0.966000	0.64601	4.381000	0.59587	2.761000	0.94854	0.655000	0.94253	GCA		PASS	0.547	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		4	10	4	10	---	---	---	---
FAM101B	359845	broad.mit.edu	37	17	293122	293123	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:293122_293123GC>CA	ENST00000329099.4	-	2	266_267	c.267_268GC>TG	c.(265-270)agGCcc>agTGcc	p.89_90RP>SA		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	159					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)	p.P90A(1)|p.R89_P90>SA(1)|p.R89S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		AAGCGGGTGGGCCTGTGGCGTG	0.639																																						uc002frj.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(268-270)CCC>GCC|c.(265-267)AGG>AGT		hypothetical protein LOC359845																																				SO:0001583	missense	359845							g.chr17:293122G>C|g.chr17:293123C>A			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.267_268delinsCA	17.37:g.293122_293123delinsCA	ENSP00000331915:p.R89_P90delinsSA						p.P90A|p.R89S	NM_182705	NP_874364	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	2	542|541	-		Myeloproliferative disorder(207;0.204)	160|159						Missense_Mutation	SNP	ENST00000329099.4	37	c.268C>G|c.267G>T																																																																																					PASS	0.639	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		10	36	10	36	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(26)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(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	CS071266	TP53	S		c.e6+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_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.chr17:7578176C>A	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.672+1G>T	17.37:g.7578176C>A		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_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186F	p.E224_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.672_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		PASS	0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	13	37	13	37	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7836605	7836605	+	Missense_Mutation	SNP	G	G	C	rs377545407		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:7836605G>C	ENST00000563694.1	+	1	1133	c.208G>C	c.(208-210)Ggc>Cgc	p.G70R	CNTROB_ENST00000380262.3_Missense_Mutation_p.G70R|TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|CNTROB_ENST00000380255.3_Missense_Mutation_p.G70R|CNTROB_ENST00000565740.1_Missense_Mutation_p.G70R|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	70					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.G70R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGGGTTAGACGGCTTCGCCCA	0.562																																						uc002gjq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(208-210)GGC>CGC		centrobin, centrosomal BRCA2 interacting protein							48.0	48.0	48.0					17																	7836605		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7836605G>C	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.208G>C	17.37:g.7836605G>C	ENSP00000456335:p.Gly70Arg					TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.G70R|CNTROB_uc002gjr.2_5'Flank	p.G70R	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			2	1127	+		Prostate(122;0.173)	70					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.208G>C	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476052	0.44044	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.48836	1.38;0.8	5.58	-0.112	0.13572	.	0.509313	0.18202	N	0.148496	T	0.35653	0.0939	N	0.24115	0.695	0.19300	N	0.999971	P;P	0.46457	0.878;0.878	P;P	0.47603	0.551;0.551	T	0.25950	-1.0117	10	0.36615	T	0.2	-5.2319	9.268	0.37652	0.5125:0.0:0.4875:0.0	.	70;70	Q8N137;Q8N137-2	CNTRB_HUMAN;.	R	70	ENSP00000369614:G70R;ENSP00000369605:G70R	ENSP00000369605:G70R	G	+	1	0	CNTROB	7777330	0.124000	0.22315	0.394000	0.26270	0.005000	0.04900	0.407000	0.21049	-0.007000	0.14345	-0.253000	0.11424	GGC		PASS	0.562	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		16	109	16	109	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10212613	10212613	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:10212613G>T	ENST00000418404.3	-	34	5270	c.5107C>A	c.(5107-5109)Cgc>Agc	p.R1703S	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1703S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1703S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACAGCCTGCGGGTCCGCTCC	0.667																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5107-5109)CGC>AGC		myosin, heavy polypeptide 13, skeletal muscle							27.0	29.0	28.0					17																	10212613		2126	4243	6369	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212613G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5107C>A	17.37:g.10212613G>T	ENSP00000404570:p.Arg1703Ser						p.R1703S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			35	5197	-			1703			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5107C>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381050	0.82792	.	.	ENSG00000006788	ENST00000252172	D	0.84800	-1.9	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.94938	0.8363	H	0.96489	3.83	0.39877	D	0.973583	D	0.89917	1.0	D	0.91635	0.999	D	0.97124	0.9813	9	0.87932	D	0	.	17.6487	0.88157	0.0:0.0:1.0:0.0	.	1703	Q9UKX3	MYH13_HUMAN	S	1703	ENSP00000252172:R1703S	ENSP00000252172:R1703S	R	-	1	0	MYH13	10153338	0.979000	0.34478	1.000000	0.80357	0.953000	0.61014	2.112000	0.41892	2.465000	0.83290	0.655000	0.94253	CGC		PASS	0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		21	20	21	20	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10222343	10222343	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:10222343T>C	ENST00000418404.3	-	26	3665	c.3502A>G	c.(3502-3504)Aac>Gac	p.N1168D	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.N1168D|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1168					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.N1168D(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTCTTGTTCATCTCAATC	0.582																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(3502-3504)AAC>GAC		myosin, heavy polypeptide 13, skeletal muscle							138.0	145.0	143.0					17																	10222343		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222343T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3502A>G	17.37:g.10222343T>C	ENSP00000404570:p.Asn1168Asp						p.N1168D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			27	3592	-			1168			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.3502A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461782	0.84425	.	.	ENSG00000006788	ENST00000252172	D	0.82711	-1.64	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.93808	0.8020	H	0.97587	4.035	0.41162	D	0.986103	D	0.58268	0.982	D	0.73708	0.981	D	0.95728	0.8772	9	0.87932	D	0	.	13.4569	0.61204	0.0:0.0:0.0:1.0	.	1168	Q9UKX3	MYH13_HUMAN	D	1168	ENSP00000252172:N1168D	ENSP00000252172:N1168D	N	-	1	0	MYH13	10163068	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.797000	0.85911	1.815000	0.52974	0.482000	0.46254	AAC		PASS	0.582	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		94	152	94	152	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10351439	10351439	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:10351439G>A	ENST00000255381.2	-	34	4771	c.4661C>T	c.(4660-4662)tCt>tTt	p.S1554F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1554					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.S1554F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGCTCAAGAGATGCCTTAAT	0.328																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4660-4662)TCT>TTT		myosin, heavy polypeptide 4, skeletal muscle							88.0	79.0	82.0					17																	10351439		2202	4300	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351439G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4661C>T	17.37:g.10351439G>A	ENSP00000255381:p.Ser1554Phe					uc002gml.1_Intron	p.S1554F	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			34	4772	-			1554			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4661C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740607	0.49045	.	.	ENSG00000141048	ENST00000255381	T	0.78816	-1.21	5.59	4.62	0.57501	Myosin tail (1);	0.000000	0.36444	U	0.002589	T	0.76198	0.3954	M	0.63843	1.955	0.50632	D	0.999887	B	0.12630	0.006	B	0.21151	0.033	T	0.74973	-0.3481	10	0.87932	D	0	.	14.6358	0.68689	0.0702:0.0:0.9298:0.0	.	1554	Q9Y623	MYH4_HUMAN	F	1554	ENSP00000255381:S1554F	ENSP00000255381:S1554F	S	-	2	0	MYH4	10292164	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	9.810000	0.99221	1.502000	0.48669	0.655000	0.94253	TCT		PASS	0.328	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		37	66	37	66	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10401147	10401147	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:10401147C>G	ENST00000226207.5	-	31	4363	c.4269G>C	c.(4267-4269)caG>caC	p.Q1423H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1423					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1423H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGGAGCCTCTGCTTCGTCT	0.473																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4267-4269)CAG>CAC		myosin, heavy chain 1, skeletal muscle, adult							120.0	109.0	113.0					17																	10401147		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401147C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4269G>C	17.37:g.10401147C>G	ENSP00000226207:p.Gln1423His					uc002gml.1_Intron	p.Q1423H	NM_005963	NP_005954	P12882	MYH1_HUMAN			31	4363	-			1423			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4269G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690813	0.29962	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.78126	-1.15	5.65	3.63	0.41609	Myosin tail (1);	0.000000	0.41001	U	0.000972	T	0.61073	0.2318	N	0.16037	0.36	0.47659	D	0.999483	P	0.37158	0.585	B	0.38921	0.285	T	0.57596	-0.7784	10	0.13853	T	0.58	.	12.8841	0.58034	0.0:0.8612:0.0:0.1388	.	1423	P12882	MYH1_HUMAN	H	1423;512	ENSP00000226207:Q1423H	ENSP00000226207:Q1423H	Q	-	3	2	MYH1	10341872	0.013000	0.17824	0.998000	0.56505	0.983000	0.72400	0.194000	0.17135	1.508000	0.48769	0.655000	0.94253	CAG		PASS	0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		20	103	20	103	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11833311	11833311	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:11833311C>G	ENST00000262442.4	+	63	12074	c.12006C>G	c.(12004-12006)atC>atG	p.I4002M	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Missense_Mutation_p.I314M|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4002	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.I4002M(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGCCACATCATCCCCCAGG	0.592																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12004-12006)ATC>ATG		dynein, axonemal, heavy chain 9 isoform 2							81.0	62.0	68.0					17																	11833311		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11833311C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12006C>G	17.37:g.11833311C>G	ENSP00000262442:p.Ile4002Met					DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Missense_Mutation_p.I314M	p.I4002M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	63	12074	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4002			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12006C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395448	0.62066	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.26067	1.76;2.21	5.19	4.23	0.50019	Dynein heavy chain (1);	0.308092	0.21653	N	0.071149	T	0.56396	0.1982	H	0.94886	3.595	0.49213	D	0.999765	D	0.53885	0.963	P	0.61533	0.89	T	0.65179	-0.6231	10	0.72032	D	0.01	.	9.6884	0.40114	0.0:0.8447:0.0:0.1553	.	4002	Q9NYC9	DYH9_HUMAN	M	4002;314	ENSP00000262442:I4002M;ENSP00000379323:I314M	ENSP00000262442:I4002M	I	+	3	3	DNAH9	11774036	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.545000	0.45769	1.419000	0.47118	0.563000	0.77884	ATC		PASS	0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		24	35	24	35	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19687201	19687201	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:19687201C>A	ENST00000395544.4	-	22	2768	c.2269G>T	c.(2269-2271)Ggg>Tgg	p.G757W	ULK2_ENST00000361658.2_Missense_Mutation_p.G757W	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	757					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G757W(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AGAGAGCCCCCGGAGTTGCTG	0.592																																						uc002gwm.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|stomach(1)	4						c.(2269-2271)GGG>TGG		unc-51-like kinase 2							23.0	27.0	26.0					17																	19687201		2202	4299	6501	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19687201C>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2269G>T	17.37:g.19687201C>A	ENSP00000378914:p.Gly757Trp					ULK2_uc002gwn.2_Missense_Mutation_p.G757W	p.G757W	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			22	2778	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		757					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2269G>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207539	0.58343	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.67865	-0.29;-0.29	5.58	5.58	0.84498	.	0.053587	0.85682	D	0.000000	T	0.79329	0.4427	L	0.57536	1.79	0.54753	D	0.999982	D	0.89917	1.0	D	0.72625	0.978	T	0.76841	-0.2810	10	0.37606	T	0.19	-17.3882	18.5624	0.91105	0.0:1.0:0.0:0.0	.	757	Q8IYT8	ULK2_HUMAN	W	757	ENSP00000354877:G757W;ENSP00000378914:G757W	ENSP00000354877:G757W	G	-	1	0	ULK2	19627793	1.000000	0.71417	0.940000	0.37924	0.032000	0.12392	7.243000	0.78219	2.611000	0.88343	0.655000	0.94253	GGG		PASS	0.592	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		22	26	22	26	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37564132	37564132	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:37564132G>C	ENST00000300651.6	-	17	4565	c.4342C>G	c.(4342-4344)Ccc>Gcc	p.P1448A	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.P1448A(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTATGGCTGGGAGAGCCACGC	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4342-4344)CCC>GCC		mediator complex subunit 1							69.0	70.0	70.0					17																	37564132		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564132G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4342C>G	17.37:g.37564132G>C	ENSP00000300651:p.Pro1448Ala	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.P1276A|MED1_uc002hru.2_Intron	p.P1448A	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4554	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1448			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4342C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372002	0.61624	.	.	ENSG00000125686	ENST00000300651	T	0.55760	0.5	4.66	4.66	0.58398	.	.	.	.	.	T	0.60586	0.2280	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.63607	-0.6599	9	0.49607	T	0.09	-7.2768	18.1035	0.89513	0.0:0.0:1.0:0.0	.	1448	Q15648	MED1_HUMAN	A	1448	ENSP00000300651:P1448A	ENSP00000300651:P1448A	P	-	1	0	MED1	34817658	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.559000	0.98135	2.573000	0.86826	0.561000	0.74099	CCC		PASS	0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		30	35	30	35	---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37866733	37866733	+	Splice_Site	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:37866733C>T	ENST00000269571.5	+	7	1059	c.900C>T	c.(898-900)ccC>ccT	p.P300P	ERBB2_ENST00000406381.2_Splice_Site_p.P270P|ERBB2_ENST00000578199.1_Splice_Site_p.P270P|ERBB2_ENST00000584601.1_Splice_Site_p.P270P|ERBB2_ENST00000540042.1_Splice_Site_p.P270P|ERBB2_ENST00000584450.1_Splice_Site_p.P300P|ERBB2_ENST00000540147.1_Splice_Site_p.P270P|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Splice_Site_p.P285P			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	300					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.P300P(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCCTGTCCCTGTGAGTGCC	0.537		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - coding silent(1)		lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(898-900)CCC>CCT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						64.0	56.0	59.0					17																	37866733		2203	4300	6503	SO:0001630	splice_region_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866733C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.901+1C>T	17.37:g.37866733C>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.P270P|ERBB2_uc010cwa.2_Silent_p.P285P|ERBB2_uc002hsp.2_Silent_p.P103P|ERBB2_uc010cwb.2_Silent_p.P300P|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.P270P|ERBB2_uc002hsn.1_Silent_p.P300P	p.P300P	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	7	1138	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	300			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.900C>T	CCDS32642.1																																																																																				PASS	0.537	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		Silent	29	34	29	34	---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44626194	44626194	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:44626194C>A	ENST00000576629.1	+	10	4184	c.3689C>A	c.(3688-3690)gCc>gAc	p.A1230D	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.A1230D|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1230						integral component of membrane (GO:0016021)		p.A1230D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCGGGAAACGCCGTCTACACC	0.587																																						uc002ikn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3688-3690)GCC>GAC		c114 SLIT-like testicular protein precursor							58.0	98.0	85.0					17																	44626194		2186	4300	6486	SO:0001583	missense	474170					integral to membrane		g.chr17:44626194C>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3689C>A	17.37:g.44626194C>A	ENSP00000459551:p.Ala1230Asp					ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.A191D|LRRC37A2_uc010dax.1_Missense_Mutation_p.A160D	p.A1230D	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3692	+		Melanoma(429;0.211)	1230			Extracellular (Potential).		B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.3689C>A	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	c	12.78	2.041793	0.35989	.	.	ENSG00000238083	ENST00000333412	T	0.60672	0.17	2.96	2.96	0.34315	.	.	.	.	.	T	0.36963	0.0986	N	0.08118	0	0.26558	N	0.973791	P;P;P	0.39862	0.608;0.692;0.651	B;B;B	0.38500	0.19;0.275;0.15	T	0.23726	-1.0180	9	0.66056	D	0.02	.	9.5897	0.39539	0.0:1.0:0.0:0.0	.	1230;191;1230	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	D	1230	ENSP00000333071:A1230D	ENSP00000333071:A1230D	A	+	2	0	LRRC37A2	41981510	0.009000	0.17119	0.008000	0.14137	0.061000	0.15899	1.347000	0.33975	1.673000	0.50895	0.175000	0.17021	GCC		PASS	0.587	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		54	266	54	266	---	---	---	---
SAMD14	201191	broad.mit.edu	37	17	48191655	48191655	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:48191655C>T	ENST00000330175.4	-	8	1155	c.838G>A	c.(838-840)Gat>Aat	p.D280N	SAMD14_ENST00000503131.1_Missense_Mutation_p.D308N|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	280								p.D308N(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGGAGTCATCACTCAGAGTG	0.577																																						uc002iqg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GAT>AAT		sterile alpha motif domain containing 14							64.0	61.0	62.0					17																	48191655		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48191655C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.838G>A	17.37:g.48191655C>T	ENSP00000329144:p.Asp280Asn					SAMD14_uc002iqd.2_Missense_Mutation_p.D63N|SAMD14_uc002iqe.2_Missense_Mutation_p.D63N|SAMD14_uc002iqf.2_Missense_Mutation_p.D308N	p.D280N	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			8	1137	-			280					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.838G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727274	0.89390	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.24	5.24	0.73138	.	0.134965	0.32901	N	0.005501	T	0.64853	0.2636	L	0.53249	1.67	0.41534	D	0.988479	P;P	0.49559	0.608;0.925	B;P	0.52159	0.227;0.691	T	0.68394	-0.5420	9	0.62326	D	0.03	-7.4361	15.7525	0.77997	0.0:1.0:0.0:0.0	.	280;308	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	N	280;292;308	.	ENSP00000285206:D292N	D	-	1	0	SAMD14	45546654	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.106000	0.71511	2.448000	0.82819	0.561000	0.74099	GAT		PASS	0.577	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		22	41	22	41	---	---	---	---
SOX9	6662	broad.mit.edu	37	17	70119805	70119805	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:70119805C>A	ENST00000245479.2	+	3	1179	c.807C>A	c.(805-807)gaC>gaA	p.D269E		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	269					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D269E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCCTATCGACTTCCGCGACG	0.652																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)GAC>GAA		transcription factor SOX9							62.0	70.0	67.0					17																	70119805		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119805C>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.807C>A	17.37:g.70119805C>A	ENSP00000245479:p.Asp269Glu					uc002jiv.2_5'Flank	p.D269E	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1179	+		Colorectal(1115;0.245)	269					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.807C>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164999	0.38217	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.78481	-1.18	4.53	0.836	0.18891	.	0.124353	0.53938	D	0.000052	T	0.81673	0.4872	H	0.96048	3.76	0.47819	D	0.99952	P	0.43633	0.813	B	0.39503	0.301	T	0.82524	-0.0414	10	0.87932	D	0	.	8.8218	0.35030	0.0:0.5681:0.0:0.4319	.	269	P48436	SOX9_HUMAN	E	269	ENSP00000245479:D269E	ENSP00000245479:D269E	D	+	3	2	SOX9	67631400	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	3.098000	0.50259	0.356000	0.24157	-0.379000	0.06801	GAC		PASS	0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		4	162	4	162	---	---	---	---
CD300LF	146722	broad.mit.edu	37	17	72691910	72691910	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:72691910A>T	ENST00000326165.6	-	6	782	c.671T>A	c.(670-672)cTt>cAt	p.L224H	CD300LF_ENST00000464910.1_Missense_Mutation_p.L227H|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000469092.1_Silent_p.A189A|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.L239H|CD300LF_ENST00000361254.4_Silent_p.A234A|CD300LF_ENST00000343125.4_Silent_p.A189A|CD300LF_ENST00000581500.1_Silent_p.A234A|CD300LF_ENST00000301573.9_Silent_p.A239A	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	224					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L224H(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGCAGAGGAAAGCTTCGTGGT	0.637																																						uc002jlg.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(670-672)CTT>CAT		NK inhibitory receptor precursor							102.0	88.0	93.0					17																	72691910		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72691910A>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.671T>A	17.37:g.72691910A>T	ENSP00000327075:p.Leu224His					RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.L227H|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.A239A|CD300LF_uc002jli.2_Silent_p.A189A|CD300LF_uc010wra.1_Missense_Mutation_p.L239H|CD300LF_uc002jlj.1_Silent_p.A234A	p.L224H	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			6	774	-			224			Cytoplasmic (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.671T>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464718	0.26335	.	.	ENSG00000186074	ENST00000326165	T	0.44083	0.93	4.12	0.8	0.18672	.	1.318260	0.05434	N	0.546549	T	0.28830	0.0715	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51653	0.947;0.947;0.856	B;B;B	0.41036	0.339;0.339;0.346	T	0.21861	-1.0233	10	0.44086	T	0.13	.	6.2422	0.20797	0.3322:0.0:0.6678:0.0	.	239;224;227	E7EME0;Q8TDQ1;Q8TDQ1-6	.;CLM1_HUMAN;.	H	224	ENSP00000327075:L224H	ENSP00000327075:L224H	L	-	2	0	CD300LF	70203505	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.416000	0.21198	0.140000	0.18849	-0.177000	0.13119	CTT		PASS	0.637	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		55	44	55	44	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74023265	74023265	+	Silent	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr17:74023265C>A	ENST00000301607.3	-	1	268	c.15G>T	c.(13-15)ctG>ctT	p.L5L	EVPL_ENST00000586740.1_Silent_p.L5L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	5	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.L5L(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCCTTTGCTCAGCCCCTTGA	0.682																																						uc002jqi.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(13-15)CTG>CTT		envoplakin							20.0	19.0	20.0					17																	74023265		2200	4300	6500	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74023265C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.15G>T	17.37:g.74023265C>A						EVPL_uc010wss.1_Silent_p.L5L|EVPL_uc010wst.1_5'UTR	p.L5L	NM_001988	NP_001979	Q92817	EVPL_HUMAN			1	243	-			5			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.15G>T	CCDS11737.1																																																																																				PASS	0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		23	22	23	22	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25589781	25589781	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr18:25589781C>G	ENST00000269141.3	-	5	1025	c.602G>C	c.(601-603)gGa>gCa	p.G201A	CDH2_ENST00000399380.3_Missense_Mutation_p.G170A	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	201	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G201A(1)|p.G201V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTCAGCTCCTGGCCCAGT	0.483																																						uc002kwg.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(601-603)GGA>GCA		cadherin 2, type 1 preproprotein							102.0	95.0	97.0					18																	25589781		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25589781C>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.602G>C	18.37:g.25589781C>G	ENSP00000269141:p.Gly201Ala					CDH2_uc010xbn.1_Missense_Mutation_p.G170A	p.G201A	NM_001792	NP_001783	P19022	CADH2_HUMAN			5	1061	-			201			Cadherin 1.|Extracellular (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.602G>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201376	0.94997	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	T;T;T;D	0.90324	0.61;0.61;0.61;-2.65	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96486	0.9360	10	0.87932	D	0	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	170;201	A8MWK3;P19022	.;CADH2_HUMAN	A	201;170;150;116	ENSP00000269141:G201A;ENSP00000382312:G170A;ENSP00000411360:G150A;ENSP00000412120:G116A	ENSP00000269141:G201A	G	-	2	0	CDH2	23843779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.438000	0.80431	2.890000	0.99128	0.585000	0.79938	GGA		PASS	0.483	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		35	100	35	100	---	---	---	---
DCC	1630	broad.mit.edu	37	18	49867170	49867170	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr18:49867170C>G	ENST00000442544.2	+	1	629	c.13C>G	c.(13-15)Ctt>Gtt	p.L5V	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	5					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.L5V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAGAATAGTCTTAGATGTGT	0.527																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(13-15)CTT>GTT		netrin receptor DCC precursor							262.0	213.0	230.0					18																	49867170		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:49867170C>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.13C>G	18.37:g.49867170C>G	ENSP00000389140:p.Leu5Val						p.L5V	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	600	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	5						Missense_Mutation	SNP	ENST00000442544.2	37	c.13C>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247063	0.59103	.	.	ENSG00000187323	ENST00000442544	T	0.50001	0.76	5.73	5.73	0.89815	.	0.113760	0.35555	N	0.003132	T	0.48857	0.1523	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.55496	-0.8132	10	0.45353	T	0.12	.	18.6711	0.91512	0.0:1.0:0.0:0.0	.	5	P43146	DCC_HUMAN	V	5	ENSP00000389140:L5V	ENSP00000389140:L5V	L	+	1	0	DCC	48121168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.676000	0.61627	2.709000	0.92574	0.561000	0.74099	CTT		PASS	0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		59	156	59	156	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	440878	440878	+	Missense_Mutation	SNP	G	G	A	rs368659991		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:440878G>A	ENST00000264554.6	-	2	522	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	175	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.R536C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGCGTGCGCGTGTTAAAG	0.647																																						uc002loq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CGC>TGC		SHC (Src homology 2 domain containing)		G	CYS/ARG	1,4245		0,1,2122	84.0	101.0	95.0		523	3.2	0.4	19		95	0,8484		0,0,4242	no	missense	SHC2	NM_012435.2	180	0,1,6364	AA,AG,GG		0.0,0.0236,0.0079	probably-damaging	175/583	440878	1,12729	2123	4242	6365	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:440878G>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.523C>T	19.37:g.440878G>A	ENSP00000264554:p.Arg175Cys					SHC2_uc002lop.3_5'Flank	p.R175C	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	523	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	175			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.523C>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531784	0.27387	2.36E-4	0.0	ENSG00000129946	ENST00000264554	T	0.37411	1.2	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.65701	-0.6104	10	0.87932	D	0	-32.7986	12.6692	0.56858	0.0:0.0:1.0:0.0	.	175	P98077	SHC2_HUMAN	C	175	ENSP00000264554:R175C	ENSP00000264554:R175C	R	-	1	0	SHC2	391878	0.862000	0.29867	0.411000	0.26484	0.110000	0.19582	1.175000	0.31944	1.742000	0.51746	0.591000	0.81541	CGC		PASS	0.647	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			45	54	45	54	---	---	---	---
TLE6	79816	broad.mit.edu	37	19	2989088	2989088	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:2989088C>T	ENST00000246112.4	+	12	971	c.770C>T	c.(769-771)gCa>gTa	p.A257V	TLE6_ENST00000452088.1_Missense_Mutation_p.A134V|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	257					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A257V(1)|p.A134V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGAAGATGCATGGAAGAGG	0.592																																						uc002lwu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(400-402)GCA>GTA		transducin-like enhancer of split 6 isoform 2							48.0	51.0	50.0					19																	2989088		2202	4298	6500	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2989088C>T	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.770C>T	19.37:g.2989088C>T	ENSP00000246112:p.Ala257Val					TLE6_uc002lwt.2_Missense_Mutation_p.A257V|TLE6_uc010dtg.2_Missense_Mutation_p.A257V|TLE6_uc002lwv.2_Missense_Mutation_p.A38V	p.A134V	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	801	+			134					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.401C>T	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260607	0.23051	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.17854	2.25;2.3	2.65	0.255	0.15561	.	.	.	.	.	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24426	0.103;0.034;0.034	B;B;B	0.28011	0.085;0.037;0.059	T	0.34576	-0.9823	9	0.51188	T	0.08	.	4.4885	0.11801	0.2817:0.484:0.2343:0.0	.	257;134;134	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	V	257;257;134;134	ENSP00000246112:A257V;ENSP00000406893:A134V	ENSP00000246112:A257V	A	+	2	0	TLE6	2940088	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.790000	0.04604	0.136000	0.18733	0.555000	0.69702	GCA		PASS	0.592	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		33	36	33	36	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7812352	7812352	+	Splice_Site	SNP	C	C	A	rs367714741		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:7812352C>A	ENST00000315599.7	-	1	68	c.46G>T	c.(46-48)Gag>Tag	p.E16*	CD209_ENST00000394173.4_Splice_Site_p.E16*|CD209_ENST00000601951.1_5'UTR|CD209_ENST00000204801.8_Splice_Site_p.V16L|CD209_ENST00000301357.8_Splice_Site_p.V16L|CD209_ENST00000593821.1_Splice_Site_p.V16L|CD209_ENST00000315591.8_Splice_Site_p.E16*|CD209_ENST00000601256.1_5'UTR|CD209_ENST00000394161.5_Splice_Site_p.E16*|CD209_ENST00000354397.6_Splice_Site_p.E16*|CD209_ENST00000593660.1_5'UTR|CD209_ENST00000602261.1_Splice_Site_p.E16*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	16					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.E16*(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCAGCCTCACCCAGGAGGCCC	0.597																																						uc002mht.2																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(46-48)GAG>TAG		CD209 molecule isoform 1							154.0	159.0	157.0					19																	7812352		2203	4300	6503	SO:0001630	splice_region_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812352C>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.46+1G>T	19.37:g.7812352C>A						CD209_uc010xju.1_Nonsense_Mutation_p.E16*|CD209_uc010dvp.2_5'UTR|CD209_uc002mhr.2_5'UTR|CD209_uc002mhs.2_5'UTR|CD209_uc002mhu.2_Nonsense_Mutation_p.E16*|CD209_uc010dvq.2_Nonsense_Mutation_p.E16*|CD209_uc002mhq.2_5'UTR|CD209_uc002mhv.2_Nonsense_Mutation_p.E16*|CD209_uc002mhx.2_Missense_Mutation_p.V16L|CD209_uc002mhw.2_Missense_Mutation_p.V16L|CD209_uc010dvr.2_Nonsense_Mutation_p.E16*	p.E16*	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			1	113	-			16			Endocytosis signal (Potential).|Cytoplasmic (Probable).		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Nonsense_Mutation	SNP	ENST00000315599.7	37	c.46G>T	CCDS12186.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.223246|6.223246|6.223246	0.97390|0.97390|0.97390	.|.|.	.|.|.	ENSG00000090659|ENSG00000090659|ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000394173;ENST00000394161;ENST00000538585|ENST00000540789|ENST00000204801;ENST00000301357	.|.|T;T	.|.|0.03035	.|.|4.31;4.07	3.59|3.59|3.59	2.55|2.55|2.55	0.30701|0.30701|0.30701	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.12689|0.12689	.|0.0308|0.0308	M|M|M	0.82823|0.82823|0.82823	2.61|2.61|2.61	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|P;D	.|.|0.53885	.|.|0.65;0.963	.|.|P;P	.|.|0.55871	.|.|0.655;0.786	.|T|T	.|0.05801|0.05801	.|-1.0863|-1.0863	.|4|7	.|.|.	.|.|.	.|.|.	.|.|.	8.2624|8.2624|8.2624	0.31793|0.31793|0.31793	0.0:0.8769:0.0:0.1231|0.0:0.8769:0.0:0.1231|0.0:0.8769:0.0:0.1231	.|.|.	.|.|16;16	.|.|Q9NNX6-7;Q9NNX6-8	.|.|.;.	X|W|L	16|16|16	.|.|ENSP00000204801:V16L;ENSP00000301357:V16L	.|.|.	E|G|V	-|-|-	1|1|1	0|0|0	CD209|CD209|CD209	7718352|7718352|7718352	0.746000|0.746000|0.746000	0.28272|0.28272|0.28272	0.977000|0.977000|0.977000	0.42913|0.42913|0.42913	0.697000|0.697000|0.697000	0.40408|0.40408|0.40408	0.789000|0.789000|0.789000	0.26886|0.26886|0.26886	1.956000|1.956000|1.956000	0.56807|0.56807|0.56807	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GGG|GTG		PASS	0.597	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	Nonsense_Mutation	97	176	97	176	---	---	---	---
ZNF561	93134	broad.mit.edu	37	19	9721953	9721954	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:9721953_9721954CC>AA	ENST00000302851.3	-	6	746_747	c.383_384GG>TT	c.(382-384)aGG>aTT	p.R128I	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R59I|ZNF561_ENST00000354661.4_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	128					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.R128M(1)|p.R128I(1)|p.R59S(1)|p.R59M(1)|p.R59I(1)|p.R128S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AAAACTGTTCCCTGAAGACCTC	0.416																																						uc002mlu.2																			6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(382-384)AGG>AGT|c.(382-384)AGG>ATG		zinc finger protein 561																																				SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721953C>A|g.chr19:9721954C>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.383_384delinsAA	19.37:g.9721953_9721954delinsAA	ENSP00000303915:p.Arg128Ile					ZNF561_uc010dwu.2_Missense_Mutation_p.R59S|ZNF561_uc010xkr.1_5'UTR|ZNF561_uc010dwu.2_Missense_Mutation_p.R59M|ZNF561_uc010xkr.1_Translation_Start_Site	p.R128S|p.R128M	NM_152289	NP_689502	Q8N587	ZN561_HUMAN			6	589|588	-			128			C2H2-type 1; degenerate.		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.384G>T|c.383G>T	CCDS12216.2																																																																																				PASS	0.416	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		43	104|105	43	104	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602887	10602887	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:10602887G>C	ENST00000171111.5	-	3	1238	c.691C>G	c.(691-693)Ctc>Gtc	p.L231V	KEAP1_ENST00000393623.2_Missense_Mutation_p.L231V|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	231	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.L231V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGGCTGATGAGGGTCACCAGT	0.612																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(691-693)CTC>GTC		kelch-like ECH-associated protein 1							65.0	53.0	57.0					19																	10602887		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602887G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.691C>G	19.37:g.10602887G>C	ENSP00000171111:p.Leu231Val					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.L231V	p.L231V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	847	-			231			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.691C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133052	0.56828	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72051	-0.62;-0.62	5.75	4.71	0.59529	BTB/Kelch-associated (2);	0.121031	0.56097	D	0.000021	T	0.67739	0.2925	M	0.64080	1.96	0.52501	D	0.999958	B	0.34103	0.437	B	0.31547	0.132	T	0.70659	-0.4811	10	0.66056	D	0.02	.	14.63	0.68650	0.0:0.1465:0.8535:0.0	.	231	Q14145	KEAP1_HUMAN	V	231	ENSP00000171111:L231V;ENSP00000377245:L231V	ENSP00000171111:L231V	L	-	1	0	KEAP1	10463887	1.000000	0.71417	0.804000	0.32291	0.794000	0.44872	4.671000	0.61590	1.421000	0.47157	0.484000	0.47621	CTC		PASS	0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		32	49	32	49	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18279624	18279624	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:18279624G>A	ENST00000593731.1	+	15	2457	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PIK3R2_ENST00000222254.8_Missense_Mutation_p.E633K			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	633	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.E633K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CACGCAGGCAGAGGAGATGCT	0.657																																						uc002nia.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1897-1899)GAG>AAG		phosphoinositide-3-kinase, regulatory subunit 2							76.0	48.0	57.0					19																	18279624		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279624G>A		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1897G>A	19.37:g.18279624G>A	ENSP00000471914:p.Glu633Lys					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.E633K	NM_005027	NP_005018	O00459	P85B_HUMAN			15	2409	+			633			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1897G>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316039	0.95655	.	.	ENSG00000105647	ENST00000222254	D	0.91740	-2.9	3.83	3.83	0.44106	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97424	1.0011	10	0.72032	D	0.01	-29.5296	15.572	0.76345	0.0:0.0:1.0:0.0	.	633	O00459	P85B_HUMAN	K	633	ENSP00000222254:E633K	ENSP00000222254:E633K	E	+	1	0	PIK3R2	18140624	1.000000	0.71417	0.992000	0.48379	0.743000	0.42351	9.674000	0.98633	2.091000	0.63221	0.313000	0.20887	GAG		PASS	0.657	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		12	28	12	28	---	---	---	---
TM6SF2	53345	broad.mit.edu	37	19	19377390	19377390	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:19377390G>T	ENST00000389363.4	-	9	905	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	278						integral component of membrane (GO:0016021)		p.P278H(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCCGCAGAAAGGCAGGACATA	0.612																																						uc002nmd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(832-834)CCT>CAT		transmembrane 6 superfamily member 2							56.0	66.0	63.0					19																	19377390		2134	4249	6383	SO:0001583	missense	53345					integral to membrane		g.chr19:19377390G>T	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.833C>A	19.37:g.19377390G>T	ENSP00000374014:p.Pro278His					HAPLN4_uc002nmc.2_5'UTR	p.P278H	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		9	883	-			278			Helical; (Potential).		Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.833C>A	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761293	0.49468	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.33865	1.39	5.34	5.34	0.76211	.	0.000000	0.47093	U	0.000242	T	0.62563	0.2438	M	0.78637	2.42	0.42493	D	0.992906	D	0.89917	1.0	D	0.73708	0.981	T	0.67546	-0.5643	10	0.87932	D	0	-17.0402	17.5872	0.87986	0.0:0.0:1.0:0.0	.	278	Q9BZW4	TM6S2_HUMAN	H	278	ENSP00000374014:P278H	ENSP00000269990:P278H	P	-	2	0	TM6SF2	19238390	1.000000	0.71417	0.885000	0.34714	0.165000	0.22458	8.475000	0.90417	2.505000	0.84491	0.561000	0.74099	CCT		PASS	0.612	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		4	62	4	62	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363828	22363828	+	Missense_Mutation	SNP	C	C	A	rs367961273	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:22363828C>A	ENST00000397121.2	-	3	1008	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	231					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.G231C(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)				AAAGCTTTGCCACATTCTTCA	0.353																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)GGC>TGC		zinc finger protein 676							68.0	74.0	72.0					19																	22363828		2171	4285	6456	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363828C>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.691G>T	19.37:g.22363828C>A	ENSP00000380310:p.Gly231Cys						p.G231C	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1009	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	231			C2H2-type 3.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.691G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.524626	0.27299	.	.	ENSG00000196109	ENST00000397121	T	0.22336	1.96	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52435	0.1734	H	0.95504	3.68	0.27292	N	0.957815	D	0.89917	1.0	D	0.97110	1.0	T	0.39981	-0.9587	9	0.87932	D	0	.	5.8762	0.18830	0.0:0.6639:0.3361:0.0	.	231	Q8N7Q3	ZN676_HUMAN	C	231	ENSP00000380310:G231C	ENSP00000380310:G231C	G	-	1	0	ZNF676	22155668	0.131000	0.22433	0.007000	0.13788	0.007000	0.05969	2.031000	0.41117	0.192000	0.20272	0.195000	0.17529	GGC		PASS	0.353	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	169	11	169	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22942386	22942386	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:22942386T>A	ENST00000596209.1	-	4	415	c.325A>T	c.(325-327)Aag>Tag	p.K109*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.K130*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	109					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.K130*(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)				CGTAAATTCTTATGTCCACAT	0.338																																						uc010xrh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)AAG>TAG		zinc finger protein 99							98.0	90.0	92.0					19																	22942386		1830	4101	5931	SO:0001587	stop_gained	7652							g.chr19:22942386T>A	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.325A>T	19.37:g.22942386T>A	ENSP00000472969:p.Lys109*						p.K130*	NM_001080409	NP_001073878					4	388	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.388A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	9.684	1.149960	0.21371	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.315	-0.63	0.11530	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3876	0.11325	0.0:0.6489:0.0:0.3511	.	.	.	.	X	130	.	ENSP00000380293:K130X	K	-	1	0	ZNF99	22734226	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.353000	0.02617	-0.557000	0.06126	-0.560000	0.04181	AAG		PASS	0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		27	55	27	55	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935603	30935603	+	Silent	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:30935603C>T	ENST00000355537.3	+	2	1281	c.1134C>T	c.(1132-1134)tgC>tgT	p.C378C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	378					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.C378C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCAGATCTGCGGCCGGCGCT	0.602																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1132-1134)TGC>TGT		zinc finger protein 536							69.0	74.0	73.0					19																	30935603		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935603C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1134C>T	19.37:g.30935603C>T						ZNF536_uc010edd.1_Silent_p.C378C	p.C378C	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1272	+	Esophageal squamous(110;0.0834)		378			C2H2-type 6.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.1134C>T	CCDS32984.1																																																																																				PASS	0.602	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		44	92	44	92	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33642152	33642152	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:33642152T>G	ENST00000355868.3	+	6	821	c.745T>G	c.(745-747)Tca>Gca	p.S249A	WDR88_ENST00000361680.2_Missense_Mutation_p.S249A	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	249								p.S249A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGCTTCTGTCTCATTGGACAG	0.552																																						uc002nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(745-747)TCA>GCA		PQQ repeat and WD repeat domain containing							126.0	82.0	97.0					19																	33642152		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33642152T>G	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.745T>G	19.37:g.33642152T>G	ENSP00000348129:p.Ser249Ala						p.S249A	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			6	823	+	Esophageal squamous(110;0.137)		249			WD 4.		Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.745T>G	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703284	0.68501	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.73575	-0.76;-0.76	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	4.446920	0.00669	N	0.000632	D	0.87265	0.6134	L	0.60957	1.885	0.29055	N	0.88424	D	0.89917	1.0	D	0.85130	0.997	T	0.71224	-0.4656	10	0.62326	D	0.03	.	15.1367	0.72572	0.0:0.0:0.0:1.0	.	249	Q6ZMY6	WDR88_HUMAN	A	249	ENSP00000348129:S249A;ENSP00000355148:S249A	ENSP00000348129:S249A	S	+	1	0	WDR88	38333992	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	5.185000	0.65076	2.246000	0.74042	0.533000	0.62120	TCA		PASS	0.552	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		3	30	3	30	---	---	---	---
DMKN	93099	broad.mit.edu	37	19	36004081	36004081	+	Silent	SNP	G	G	T	rs61742823	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:36004081G>T	ENST00000339686.3	-	1	473	c.297C>A	c.(295-297)gtC>gtA	p.V99V	DMKN_ENST00000424570.2_Silent_p.V99V|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000440396.1_Silent_p.V99V|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000447113.2_Silent_p.V99V|DMKN_ENST00000429837.1_Silent_p.V99V|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000419602.1_Silent_p.V99V|DMKN_ENST00000418261.1_Silent_p.V99V|DMKN_ENST00000451297.2_Silent_p.V99V|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000461300.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	99	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V99V(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGCTTCCCCGACCCTGTTGC	0.597																																						uc002nzm.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(295-297)GTC>GTA		dermokine isoform 2 precursor							139.0	110.0	120.0					19																	36004081		2203	4300	6503	SO:0001819	synonymous_variant	93099					extracellular region		g.chr19:36004081G>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.297C>A	19.37:g.36004081G>T						DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Silent_p.V99V|DMKN_uc002nzn.3_Silent_p.V99V|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Silent_p.V99V|DMKN_uc010eeb.2_Silent_p.V99V|DMKN_uc002oaa.3_Silent_p.V99V|DMKN_uc002oab.3_Silent_p.V99V	p.V99V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	480	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		99			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	c.297C>A	CCDS12463.1																																																																																				PASS	0.597	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		7	107	7	107	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351813	36351813	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:36351813G>T	ENST00000360202.5	+	8	1129	c.931G>T	c.(931-933)Ggg>Tgg	p.G311W	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G261W|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G311W|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G311W	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	311					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.G311W(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGTCCAGTTGGGCCGATTCT	0.652																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(931-933)GGG>TGG		kin of IRRE-like 2 isoform c							22.0	24.0	23.0					19																	36351813		2193	4296	6489	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351813G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.931G>T	19.37:g.36351813G>T	ENSP00000353331:p.Gly311Trp					KIRREL2_uc002obz.3_Missense_Mutation_p.G311W|KIRREL2_uc002oca.3_Missense_Mutation_p.G261W|KIRREL2_uc002occ.3_Missense_Mutation_p.G258W|KIRREL2_uc002ocd.3_Missense_Mutation_p.G308W	p.G311W	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1143	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		311			Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.931G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.458915	0.63401	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.22945	1.93;1.93;1.93	4.48	4.48	0.54585	.	0.000000	0.47093	D	0.000252	T	0.32255	0.0823	M	0.66297	2.02	0.58432	D	0.999998	P;P;B;B;B	0.35628	0.513;0.457;0.175;0.36;0.232	B;B;B;B;B	0.39706	0.307;0.204;0.137;0.084;0.084	T	0.22661	-1.0210	10	0.87932	D	0	-19.73	12.5508	0.56225	0.0:0.0:1.0:0.0	.	311;291;311;261;311	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	W	311;261;311;291	ENSP00000262625:G311W;ENSP00000345067:G261W;ENSP00000353331:G311W	ENSP00000262625:G311W	G	+	1	0	KIRREL2	41043653	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.446000	0.66600	2.332000	0.79248	0.450000	0.29827	GGG		PASS	0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		10	41	10	41	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37129880	37129880	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:37129880A>G	ENST00000588268.1	-	6	1594	c.1367T>C	c.(1366-1368)cTc>cCc	p.L456P	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.L433P	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	456					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.L329P(1)|p.L456P(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTCTTTTGAGGTGTGAACA	0.398																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1366-1368)CTC>CCC		gonadotropin inducible transcription repressor							51.0	54.0	53.0					19																	37129880		2200	4299	6499	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129880A>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1367T>C	19.37:g.37129880A>G	ENSP00000467931:p.Leu456Pro					ZNF461_uc002oen.2_Missense_Mutation_p.L425P|ZNF461_uc010xtj.1_Missense_Mutation_p.L433P	p.L456P	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1595	-	Esophageal squamous(110;0.198)		456			C2H2-type 9.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1367T>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072403	0.55646	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	T	0.53857	0.6	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78597	0.4308	H	0.95574	3.69	0.35436	D	0.794486	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87220	0.2253	9	0.87932	D	0	.	11.3453	0.49556	1.0:0.0:0.0:0.0	.	433;378;456	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	P	456;187;433;329;150	ENSP00000353515:L433P	ENSP00000353515:L433P	L	-	2	0	ZNF461	41821720	0.993000	0.37304	0.744000	0.31058	0.986000	0.74619	6.395000	0.73228	1.579000	0.49836	0.402000	0.26972	CTC		PASS	0.398	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		3	93	3	93	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581177	40581177	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:40581177C>T	ENST00000595687.2	-	6	1381	c.1172G>A	c.(1171-1173)tGt>tAt	p.C391Y	ZNF780A_ENST00000450241.2_Missense_Mutation_p.C357Y|ZNF780A_ENST00000455521.1_Missense_Mutation_p.C392Y|ZNF780A_ENST00000340963.5_Missense_Mutation_p.C391Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.C392Y|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	391					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.C392Y(1)|p.C357Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCCTTACATTCAAACGG	0.408																																						uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1171-1173)TGT>TAT		zinc finger protein 780A isoform b							142.0	147.0	145.0					19																	40581177		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581177C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1172G>A	19.37:g.40581177C>T	ENSP00000472189:p.Cys391Tyr					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.C391Y|ZNF780A_uc010xvh.1_Missense_Mutation_p.C392Y	p.C391Y	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1397	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		391			C2H2-type 9.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1172G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380550	0.42207	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	D;D	0.85088	-1.94;-1.94	1.93	0.812	0.18744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93115	0.7808	H	0.95224	3.64	0.24992	N	0.991527	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83277	-0.0040	9	0.87932	D	0	.	6.1238	0.20167	0.0:0.8196:0.0:0.1804	.	392;391	E9PB48;O75290	.;Z780A_HUMAN	Y	391;392;391	ENSP00000400997:C392Y;ENSP00000341507:C391Y	ENSP00000341507:C391Y	C	-	2	0	ZNF780A	45273017	0.995000	0.38212	0.029000	0.17559	0.065000	0.16274	4.335000	0.59298	0.122000	0.18314	0.313000	0.20887	TGT		PASS	0.408	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		127	231	127	231	---	---	---	---
EML2	24139	broad.mit.edu	37	19	46127984	46127984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:46127984C>T	ENST00000245925.3	-	9	884	c.834G>A	c.(832-834)tgG>tgA	p.W278*	EML2_ENST00000587152.1_Nonsense_Mutation_p.W479*|EML2_ENST00000536630.1_Nonsense_Mutation_p.W425*|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Nonsense_Mutation_p.W278*	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	278	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.W278*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GACCTTTGCCCCAAACATAGA	0.517																																						uc002pcn.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(832-834)TGG>TGA		echinoderm microtubule associated protein like							83.0	62.0	69.0					19																	46127984		2203	4300	6503	SO:0001587	stop_gained	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46127984C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.834G>A	19.37:g.46127984C>T	ENSP00000245925:p.Trp278*					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Nonsense_Mutation_p.W162*|EML2_uc010xxl.1_Nonsense_Mutation_p.W425*|EML2_uc010xxm.1_Nonsense_Mutation_p.W479*|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Nonsense_Mutation_p.W278*|EML2_uc010ekj.2_Intron|EML2_uc010ekk.1_RNA	p.W278*	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	9	869	-		Ovarian(192;0.179)|all_neural(266;0.224)	278			WD 4.		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Nonsense_Mutation	SNP	ENST00000245925.3	37	c.834G>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219193	0.98143	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8507	13.819	0.63309	0.0:1.0:0.0:0.0	.	.	.	.	X	425;278;479;436	.	ENSP00000245925:W278X	W	-	3	0	EML2	50819824	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.169000	0.77578	2.117000	0.64856	0.650000	0.86243	TGG		PASS	0.517	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		5	41	5	41	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54386432	54386432	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:54386432G>T	ENST00000263431.3	+	2	468	c.186G>T	c.(184-186)caG>caT	p.Q62H	PRKCG_ENST00000542049.1_5'Flank|PRKCG_ENST00000536044.1_Missense_Mutation_p.Q62H|PRKCG_ENST00000540413.1_Missense_Mutation_p.Q62H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	62					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.Q62H(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCGGAAAGCAGGGCCTGCAAT	0.642																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(184-186)CAG>CAT		protein kinase C, gamma							61.0	60.0	60.0					19																	54386432		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54386432G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.186G>T	19.37:g.54386432G>T	ENSP00000263431:p.Gln62His					PRKCG_uc010eqz.1_Missense_Mutation_p.Q62H|PRKCG_uc010yef.1_Missense_Mutation_p.Q62H|PRKCG_uc010yeg.1_Missense_Mutation_p.Q62H|PRKCG_uc010yeh.1_5'Flank	p.Q62H	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	2	468	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		62			Phorbol-ester/DAG-type 1.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.186G>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587499	0.28268	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.94537	-3.45;-3.45;-3.45	3.75	2.69	0.31865	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	.	.	.	.	D	0.97192	0.9082	M	0.88704	2.975	0.80722	D	1	P;D;D;P	0.89917	0.554;1.0;0.99;0.683	P;D;D;P	0.81914	0.652;0.995;0.971;0.813	D	0.96649	0.9480	9	0.87932	D	0	.	12.3378	0.55077	0.0998:0.0:0.9002:0.0	.	62;62;62;62	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	H	62;62;62;85	ENSP00000440541:Q62H;ENSP00000443493:Q62H;ENSP00000263431:Q62H	ENSP00000263431:Q62H	Q	+	3	2	PRKCG	59078244	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	0.992000	0.29667	0.220000	0.20860	-1.579000	0.00862	CAG		PASS	0.642	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		38	47	38	47	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401724	54401724	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:54401724G>A	ENST00000263431.3	+	11	1405	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PRKCG_ENST00000542049.1_Missense_Mutation_p.E262K|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.E375K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.E375K(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGGCTCTGATGAGCTCTACGC	0.602																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1123-1125)GAG>AAG		protein kinase C, gamma							62.0	56.0	58.0					19																	54401724		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401724G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1123G>A	19.37:g.54401724G>A	ENSP00000263431:p.Glu375Lys					PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.E375K|PRKCG_uc010yeh.1_Missense_Mutation_p.E262K	p.E375K	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	11	1405	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		375			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1123G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711863	0.89112	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.64438	-0.1;-0.1;-0.1	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.51278	0.1665	N	0.16602	0.42	0.52099	D	0.999948	B;B;B	0.22346	0.068;0.033;0.051	B;B;B	0.29716	0.064;0.027;0.106	T	0.52305	-0.8593	9	0.59425	D	0.04	.	16.3254	0.82978	0.0:0.0:1.0:0.0	.	262;375;375	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	K	375;375;262	ENSP00000443493:E375K;ENSP00000263431:E375K;ENSP00000438090:E262K	ENSP00000263431:E375K	E	+	1	0	PRKCG	59093536	1.000000	0.71417	0.965000	0.40720	0.981000	0.71138	5.978000	0.70501	2.528000	0.85240	0.561000	0.74099	GAG		PASS	0.602	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		42	71	42	71	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55341403	55341403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr19:55341403G>T	ENST00000391728.4	+	8	1159	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	KIR3DL1_ENST00000541392.1_Nonsense_Mutation_p.E359*|KIR3DL1_ENST00000326542.7_Nonsense_Mutation_p.E359*|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Nonsense_Mutation_p.E376*|KIR3DL1_ENST00000358178.4_Nonsense_Mutation_p.E281*	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	376					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.E376*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AATGGACCAAGAGCCTGCAGG	0.532																																						uc002qhk.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1126-1128)GAG>TAG		killer cell immunoglobulin-like receptor, three							119.0	115.0	117.0					19																	55341403		1486	2609	4095	SO:0001587	stop_gained	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341403G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1126G>T	19.37:g.55341403G>T	ENSP00000375608:p.Glu376*					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Nonsense_Mutation_p.E301*|KIR3DL1_uc010esf.2_Nonsense_Mutation_p.E281*|KIR3DL1_uc010yfo.1_Nonsense_Mutation_p.E318*|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.E376*	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1189	+			376			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Nonsense_Mutation	SNP	ENST00000391728.4	37	c.1126G>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.913348	0.33815	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	.	.	.	0.569	0.569	0.17340	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	376;359;354;376;359;281	.	ENSP00000326868:E359X	E	+	1	0	KIR3DL1	60033215	0.076000	0.21285	0.056000	0.19401	0.120000	0.20174	0.072000	0.14617	0.567000	0.29293	0.184000	0.17185	GAG		PASS	0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		74	106	74	106	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10621761	10621761	+	Splice_Site	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:10621761A>T	ENST00000254958.5	-	24	3563	c.3048T>A	c.(3046-3048)atT>atA	p.I1016I	JAG1_ENST00000423891.2_Splice_Site_p.I857I	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1016					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.I1016I(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTATACTTACAATGGCCACAT	0.408									Alagille Syndrome																													uc002wnw.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(3046-3048)ATT>ATA		jagged 1 precursor							135.0	121.0	125.0					20																	10621761		2203	4300	6503	SO:0001630	splice_region_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621761A>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3048+1T>A	20.37:g.10621761A>T							p.I1016I	NM_000214	NP_000205	P78504	JAG1_HUMAN			24	3564	-			1016			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3048T>A	CCDS13112.1																																																																																				PASS	0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Silent	57	134	57	134	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13868482	13868482	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:13868482C>A	ENST00000284951.5	-	8	752	c.678G>T	c.(676-678)ttG>ttT	p.L226F	SEL1L2_ENST00000378072.5_Missense_Mutation_p.L226F|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	226						integral component of membrane (GO:0016021)		p.L226F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGATTCCCGACAAATATCTGT	0.299																																						uc010gcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(676-678)TTG>TTT		sel-1 suppressor of lin-12-like 2 precursor							130.0	126.0	127.0					20																	13868482		1831	4079	5910	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868482C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.678G>T	20.37:g.13868482C>A	ENSP00000284951:p.Leu226Phe					SEL1L2_uc002woq.3_Missense_Mutation_p.L87F|SEL1L2_uc010zrl.1_Missense_Mutation_p.L226F|SEL1L2_uc002wor.2_RNA	p.L226F	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			8	760	-			226			Sel1-like 4.|Extracellular (Potential).		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.678G>T		.	.	.	.	.	.	.	.	.	.	C	16.19	3.053852	0.55218	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.52754	0.65;0.65	5.69	3.74	0.42951	Tetratricopeptide-like helical (1);	0.134260	0.34750	N	0.003719	T	0.38295	0.1035	N	0.13327	0.33	0.35666	D	0.812932	B;D	0.54047	0.127;0.964	B;P	0.55055	0.194;0.767	T	0.36601	-0.9741	10	0.14656	T	0.56	-7.0161	9.2751	0.37694	0.0:0.8286:0.0:0.1713	.	226;226	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	F	226	ENSP00000367312:L226F;ENSP00000284951:L226F	ENSP00000284951:L226F	L	-	3	2	SEL1L2	13816482	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.263000	0.18478	1.397000	0.46682	0.650000	0.86243	TTG		PASS	0.299	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		39	210	39	210	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20493357	20493357	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:20493357C>G	ENST00000202677.7	-	32	4663	c.4656G>C	c.(4654-4656)atG>atC	p.M1552I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1552					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.M1552I(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGTCATAGTTCATGCCACATG	0.398																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4654-4656)ATG>ATC		akt substrate AS250							156.0	144.0	148.0					20																	20493357		1914	4141	6055	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493357C>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4656G>C	20.37:g.20493357C>G	ENSP00000202677:p.Met1552Ile					RALGAPA2_uc010gcx.2_Missense_Mutation_p.M1256I|RALGAPA2_uc010zsg.1_Missense_Mutation_p.M1000I|RALGAPA2_uc002wsa.1_Missense_Mutation_p.M324I	p.M1552I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4799	-			1552					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4656G>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.57|10.57	1.387257|1.387257	0.25031|0.25031	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.93811|.	-3.29|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70718|.	0.3256|.	L|L	0.46670|0.46670	1.46|1.46	0.58432|0.58432	D|D	0.999995|0.999995	B;D;B|.	0.63880|.	0.057;0.993;0.057|.	B;D;B|.	0.73708|.	0.05;0.981;0.05|.	T|.	0.63492|.	-0.6625|.	9|.	.|.	.|.	.|.	.|.	20.7342|20.7342	0.99715|0.99715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1390;1552;1552|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	I|S	1552|1369	ENSP00000202677:M1552I|.	.|.	M|X	-|-	3|2	0|2	RALGAPA2|RALGAPA2	20441357|20441357	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.963000|0.963000	0.63663|0.63663	4.619000|4.619000	0.61218|0.61218	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	ATG|TGA		PASS	0.398	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		45	151	45	151	---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30408096	30408096	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:30408096C>G	ENST00000375994.2	+	2	493	c.220C>G	c.(220-222)Caa>Gaa	p.Q74E	MYLK2_ENST00000375985.4_Missense_Mutation_p.Q74E			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	74					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.Q74E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACTAGCAGCCAAGGCCCCAA	0.662																																						uc002wwq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(220-222)CAA>GAA		skeletal myosin light chain kinase							31.0	36.0	34.0					20																	30408096		2197	4290	6487	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408096C>G	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.220C>G	20.37:g.30408096C>G	ENSP00000365162:p.Gln74Glu						p.Q74E	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	322	+			74					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.220C>G	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525330	0.27299	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.66815	-0.23;-0.23	4.81	3.86	0.44501	.	.	.	.	.	T	0.50429	0.1615	L	0.34521	1.04	0.28095	N	0.93167	B	0.29037	0.231	B	0.22386	0.039	T	0.34279	-0.9835	9	0.13853	T	0.58	.	10.2938	0.43612	0.1968:0.8032:0.0:0.0	.	74	Q9H1R3	MYLK2_HUMAN	E	74	ENSP00000365162:Q74E;ENSP00000365152:Q74E	ENSP00000365152:Q74E	Q	+	1	0	MYLK2	29871757	0.032000	0.19561	1.000000	0.80357	0.503000	0.33858	1.221000	0.32503	1.237000	0.43756	0.561000	0.74099	CAA		PASS	0.662	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		14	52	14	52	---	---	---	---
CCM2L	140706	broad.mit.edu	37	20	30616834	30616834	+	Missense_Mutation	SNP	C	C	G	rs139147006	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:30616834C>G	ENST00000300415.8	+	8	1183	c.1170C>G	c.(1168-1170)agC>agG	p.S390R	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_Missense_Mutation_p.A369G			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	390								p.A369V(1)|p.A369G(1)|p.S390R(1)|p.S390S(1)									CATGTTACAGCGGCACGTCCA	0.602																																						uc002wxf.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		large_intestine(2)|lung(2)	central_nervous_system(3)|ovary(1)	4						c.(1105-1107)GCG>GGG		hypothetical protein LOC140706							161.0	137.0	145.0					20																	30616834		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30616834C>G	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1170C>G	20.37:g.30616834C>G	ENSP00000300415:p.Ser390Arg					C20orf160_uc002wxg.2_5'UTR	p.A369G	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			7	1119	+			Error:Variant_position_missing_in_Q9NUG4_after_alignment					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1106C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589149|3.589149	0.66105|0.66105	.|.	.|.	ENSG00000101331|ENSG00000101331	ENST00000262659|ENST00000300415;ENST00000452892	T|T;T	0.64260|0.37411	-0.09|1.2;1.2	5.21|5.21	-8.24|-8.24	0.01029|0.01029	.|.	.|0.125795	.|0.64402	.|D	.|0.000001	T|T	0.39410|0.39410	0.1077|0.1077	.|.	.|.	.|.	0.30094|0.30094	N|N	0.808068|0.808068	P|.	0.43477|.	0.808|.	P|.	0.45276|.	0.475|.	T|T	0.48592|0.48592	-0.9022|-0.9022	8|7	0.54805|0.41790	T|T	0.06|0.15	-6.633|-6.633	18.114|18.114	0.89545|0.89545	0.0:0.184:0.0:0.816|0.0:0.184:0.0:0.816	.|.	369|.	Q9NUG4-2|.	.|.	G|R	369|390;143	ENSP00000262659:A369G|ENSP00000300415:S390R;ENSP00000392448:S143R	ENSP00000262659:A369G|ENSP00000300415:S390R	A|S	+|+	2|3	0|2	C20orf160|C20orf160	30080495|30080495	0.024000|0.024000	0.19004|0.19004	0.708000|0.708000	0.30435|0.30435	0.925000|0.925000	0.55904|0.55904	-1.179000|-1.179000	0.03090|0.03090	-1.663000|-1.663000	0.01481|0.01481	-0.448000|-0.448000	0.05591|0.05591	GCG|AGC		PASS	0.602	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		28	84	28	84	---	---	---	---
HCK	3055	broad.mit.edu	37	20	30689186	30689186	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:30689186G>T	ENST00000520553.1	+	13	1628	c.1382G>T	c.(1381-1383)tGc>tTc	p.C461F	HCK_ENST00000534862.1_Missense_Mutation_p.C462F|HCK_ENST00000538448.1_Missense_Mutation_p.C461F|HCK_ENST00000518730.1_Missense_Mutation_p.C460F|HCK_ENST00000375862.2_Missense_Mutation_p.C481F|HCK_ENST00000375852.2_Missense_Mutation_p.C482F	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.C461F(1)|p.C482F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCAGAGAACTGCCCAGAGGAG	0.547																																						uc002wxh.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1444-1446)TGC>TTC		hemopoietic cell kinase isoform p61HCK							64.0	57.0	59.0					20																	30689186		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689186G>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1382G>T	20.37:g.30689186G>T	ENSP00000429848:p.Cys461Phe					HCK_uc010gdy.2_Missense_Mutation_p.C461F|HCK_uc002wxi.2_Missense_Mutation_p.C460F	p.C482F	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1616	+			482			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1445G>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714954	0.68844	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91489	0.7313	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92324	0.5868	10	0.87932	D	0	.	17.2488	0.87035	0.0:0.0:1.0:0.0	.	460;482	P08631-3;P08631	.;HCK_HUMAN	F	462;461;481;461;460;482	ENSP00000444986:C462F;ENSP00000441169:C461F;ENSP00000365022:C481F;ENSP00000429848:C461F;ENSP00000427757:C460F;ENSP00000365012:C482F	ENSP00000365012:C482F	C	+	2	0	HCK	30152847	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	9.654000	0.98509	2.560000	0.86352	0.561000	0.74099	TGC		PASS	0.547	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			9	52	9	52	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31678516	31678516	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:31678516C>A	ENST00000375483.3	+	8	1054	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	352						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L313M(1)									GCCTGCAGCTCTGATTCCTCT	0.597																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1054-1056)CTG>ATG		antimicrobial peptide RY2G5 precursor							114.0	92.0	100.0					20																	31678516		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31678516C>A	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.1054C>A	20.37:g.31678516C>A	ENSP00000364632:p.Leu352Met						p.L352M	NM_182519	NP_872325	P59827	LPLC4_HUMAN			8	1069	+			352					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1054C>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.621009	0.46736	.	.	ENSG00000186191	ENST00000375483	T	0.05319	3.46	5.2	0.358	0.16084	.	0.274170	0.25296	N	0.031698	T	0.08044	0.0201	L	0.46157	1.445	0.30591	N	0.761553	D	0.54047	0.964	P	0.49752	0.621	T	0.12372	-1.0550	10	0.51188	T	0.08	-7.0149	4.9909	0.14214	0.0:0.5276:0.1608:0.3116	.	352	P59827	BPIB4_HUMAN	M	352	ENSP00000364632:L352M	ENSP00000364632:L352M	L	+	1	2	BPIFB4	31142177	0.837000	0.29446	0.900000	0.35374	0.770000	0.43624	0.609000	0.24238	0.183000	0.20059	0.478000	0.44815	CTG		PASS	0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		10	59	10	59	---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39704813	39704813	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:39704813A>G	ENST00000361337.2	+	4	408	c.158A>G	c.(157-159)gAa>gGa	p.E53G		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	53	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.E53G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TTTTACAGTGAACATAAAGAT	0.378			T	NUP98	AML*																																	uc002xjl.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(157-159)GAA>GGA		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						100.0	95.0	97.0					20																	39704813		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39704813A>G		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.158A>G	20.37:g.39704813A>G	ENSP00000354522:p.Glu53Gly					TOP1_uc010gge.1_RNA	p.E53G	NM_003286	NP_003277	P11387	TOP1_HUMAN			4	404	+		Myeloproliferative disorder(115;0.00878)	53			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.158A>G	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337255	0.60963	.	.	ENSG00000198900	ENST00000361337	T	0.24723	1.84	5.11	5.11	0.69529	.	0.299616	0.40818	N	0.001006	T	0.30230	0.0758	N	0.24115	0.695	0.58432	D	0.999995	P	0.45126	0.851	P	0.55391	0.775	T	0.04005	-1.0985	10	0.56958	D	0.05	-13.4267	11.4722	0.50275	1.0:0.0:0.0:0.0	.	53	P11387	TOP1_HUMAN	G	53	ENSP00000354522:E53G	ENSP00000354522:E53G	E	+	2	0	TOP1	39138227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.953000	0.56699	2.281000	0.76405	0.533000	0.62120	GAA		PASS	0.378	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			32	111	32	111	---	---	---	---
SPINT4	391253	broad.mit.edu	37	20	44351115	44351115	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:44351115C>A	ENST00000279058.3	+	1	126	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	37						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L37I(1)		lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATGTGGAGACCTCAAAGGTAT	0.388																																						uc002xpe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(109-111)CTC>ATC		serine peptidase inhibitor, Kunitz type 4							123.0	116.0	118.0					20																	44351115		2203	4300	6503	SO:0001583	missense	391253					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44351115C>A	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.109C>A	20.37:g.44351115C>A	ENSP00000279058:p.Leu37Ile						p.L37I	NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN			1	128	+		Myeloproliferative disorder(115;0.028)	37					Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	c.109C>A	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813347	0.16537	.	.	ENSG00000149651	ENST00000279058	T	0.57752	0.38	3.97	-0.506	0.11989	Proteinase inhibitor I2, Kunitz metazoa (2);	1.217400	0.06056	N	0.657421	T	0.30324	0.0761	.	.	.	0.09310	N	1	P	0.35011	0.48	B	0.31614	0.133	T	0.13926	-1.0491	9	0.22706	T	0.39	-1.0886	2.8178	0.05463	0.202:0.4115:0.0:0.3866	.	37	Q6UDR6	SPIT4_HUMAN	I	37	ENSP00000279058:L37I	ENSP00000279058:L37I	L	+	1	0	SPINT4	43784529	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.860000	0.01656	-0.053000	0.13289	-0.913000	0.02753	CTC		PASS	0.388	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		27	88	27	88	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47265955	47265955	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:47265955C>A	ENST00000371941.3	-	25	3210	c.3188G>T	c.(3187-3189)gGc>gTc	p.G1063V	PREX1_ENST00000396220.1_Missense_Mutation_p.G1063V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1063					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1063V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAAGCTGAGGCCCCGGTCTTC	0.592																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3187-3189)GGC>GTC		phosphatidylinositol-3,4,							72.0	71.0	71.0					20																	47265955		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47265955C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3188G>T	20.37:g.47265955C>A	ENSP00000361009:p.Gly1063Val					PREX1_uc002xtv.1_Missense_Mutation_p.G360V	p.G1063V	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3211	-			1063					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3188G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988351	0.74589	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38077	1.16;1.16	4.74	4.74	0.60224	.	0.000000	0.56097	U	0.000034	T	0.60064	0.2240	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65335	-0.6193	10	0.87932	D	0	.	17.7509	0.88434	0.0:1.0:0.0:0.0	.	1063;360	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	V	1063	ENSP00000361009:G1063V;ENSP00000379522:G1063V	ENSP00000361009:G1063V	G	-	2	0	PREX1	46699362	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.436000	0.80404	2.169000	0.68431	0.655000	0.94253	GGC		PASS	0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		15	68	15	68	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58494628	58494628	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr20:58494628T>C	ENST00000357552.3	-	6	547	c.322A>G	c.(322-324)Aag>Gag	p.K108E	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Missense_Mutation_p.K108E			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	108					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.K108E(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)			ATAATGTCCTTGGATTTTTCA	0.294																																						uc002yaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(322-324)AAG>GAG		synaptonemal complex protein 2							68.0	70.0	69.0					20																	58494628		2203	4295	6498	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58494628T>C	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.322A>G	20.37:g.58494628T>C	ENSP00000350162:p.Lys108Glu					SYCP2_uc010gju.1_Missense_Mutation_p.K9E	p.K108E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		5	461	-	all_lung(29;0.00344)		108					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.322A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035804	0.75617	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.49139	3.59;3.59;3.59;0.79	5.79	4.69	0.59074	.	0.080038	0.53938	D	0.000059	T	0.56877	0.2015	M	0.63428	1.95	0.29578	N	0.849399	D;P	0.56287	0.975;0.521	P;B	0.55545	0.778;0.158	T	0.57802	-0.7748	10	0.46703	T	0.11	-9.9719	10.604	0.45384	0.0:0.0755:0.0:0.9245	.	108;108	A2A341;Q9BX26	.;SYCP2_HUMAN	E	108;108;108;107	ENSP00000360040:K108E;ENSP00000350162:K108E;ENSP00000402456:K108E;ENSP00000399300:K107E	ENSP00000350162:K108E	K	-	1	0	SYCP2	57928023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.144000	0.64832	1.029000	0.39812	0.533000	0.62120	AAG		PASS	0.294	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		23	78	23	78	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18021972	18021972	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:18021972A>G	ENST00000400585.2	+	16	2089	c.1651A>G	c.(1651-1653)Ata>Gta	p.I551V	CECR2_ENST00000262608.8_Missense_Mutation_p.I693V|CECR2_ENST00000400573.5_Missense_Mutation_p.I692V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	734					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.I692V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTTGGGCAGATAAGTGGCCC	0.602																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2074-2076)ATA>GTA		cat eye syndrome chromosome region, candidate 2							24.0	26.0	25.0					22																	18021972		1986	4156	6142	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021972A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1651A>G	22.37:g.18021972A>G	ENSP00000383428:p.Ile551Val					CECR2_uc010gqv.1_Missense_Mutation_p.I551V|CECR2_uc002zml.2_Missense_Mutation_p.I551V	p.I692V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2200	+		all_epithelial(15;0.139)	734					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2074A>G		.	.	.	.	.	.	.	.	.	.	A	7.652	0.683070	0.14907	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.24538	1.98;1.97;1.85	5.28	5.28	0.74379	.	0.085758	0.49916	D	0.000125	T	0.15305	0.0369	N	0.22421	0.69	0.20403	N	0.999901	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.09377	0.004;0.002;0.002	T	0.12889	-1.0530	10	0.27082	T	0.32	-2.8451	7.3738	0.26817	0.7812:0.1444:0.0744:0.0	.	734;551;692	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	551;692;693	ENSP00000383428:I551V;ENSP00000383417:I692V;ENSP00000262608:I693V	ENSP00000262608:I693V	I	+	1	0	CECR2	16401972	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	1.760000	0.38430	2.224000	0.72417	0.533000	0.62120	ATA		PASS	0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	42	9	42	---	---	---	---
ATP6V1E1	529	broad.mit.edu	37	22	18077343	18077343	+	Silent	SNP	T	T	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:18077343T>G	ENST00000253413.5	-	8	752	c.570A>C	c.(568-570)atA>atC	p.I190I	ATP6V1E1_ENST00000399798.2_Silent_p.I168I|ATP6V1E1_ENST00000399796.2_Silent_p.I160I	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	190					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.I190I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TGGAAACCTTTATTTTACGAT	0.433																																						uc002zmr.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(568-570)ATA>ATC		vacuolar H+ ATPase E1 isoform a							57.0	51.0	53.0					22																	18077343		2203	4299	6502	SO:0001819	synonymous_variant	529				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr22:18077343T>G	X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.570A>C	22.37:g.18077343T>G						ATP6V1E1_uc002zms.1_Silent_p.I160I|ATP6V1E1_uc002zmt.1_Silent_p.I168I	p.I190I	NM_001696	NP_001687	P36543	VATE1_HUMAN		Lung(27;0.19)	8	757	-		all_epithelial(15;0.206)	190					A8MUE4|A8MUN4	Silent	SNP	ENST00000253413.5	37	c.570A>C	CCDS13745.1																																																																																				PASS	0.433	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131790.3	NM_001696		14	16	14	16	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19203623	19203623	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:19203623G>A	ENST00000263200.10	-	19	3135	c.3063C>T	c.(3061-3063)caC>caT	p.H1021H	CLTCL1_ENST00000353891.5_Silent_p.H1021H|CLTCL1_ENST00000427926.1_Silent_p.H1021H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1021	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.H1021H(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGCCTCACCTGTGCTCGCTGA	0.478			T	?	ALCL																																	uc002zpb.2				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3061-3063)CAC>CAT		clathrin, heavy polypeptide-like 1 isoform 1							54.0	56.0	55.0					22																	19203623		2027	4184	6211	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19203623G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3063C>T	22.37:g.19203623G>A						CLTCL1_uc011agv.1_Silent_p.H1021H|CLTCL1_uc011agw.1_Silent_p.H1021H|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank	p.H1021H	NM_007098	NP_009029	P53675	CLH2_HUMAN			19	3138	-	Colorectal(54;0.0993)		1021			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.3063C>T	CCDS46662.1																																																																																				PASS	0.478	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		17	68	17	68	---	---	---	---
RIMBP3	85376	broad.mit.edu	37	22	20457269	20457269	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:20457269C>A	ENST00000426804.1	-	1	4517	c.4033G>T	c.(4033-4035)Gct>Tct	p.A1345S	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1345								p.A1345S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCAAGGGCAGCCTTTTCCTGA	0.557																																						uc002zsd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(4033-4035)GCT>TCT		RIMS binding protein 3							1.0	1.0	1.0					22																	20457269		141	476	617	SO:0001583	missense	85376							g.chr22:20457269C>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4033G>T	22.37:g.20457269C>A	ENSP00000391564:p.Ala1345Ser						p.A1345S	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4518	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4033G>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	4.988	0.183548	0.09495	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.19806	2.12	3.1	-6.2	0.02072	.	0.809921	0.11079	N	0.602089	T	0.10078	0.0247	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.25676	-1.0125	10	0.21540	T	0.41	1.6021	3.7841	0.08692	0.1954:0.5038:0.1767:0.1241	.	1251	Q9UFD9	RIM3A_HUMAN	S	1251;1345	ENSP00000391564:A1345S	ENSP00000347318:A1251S	A	-	1	0	RIMBP3	18837269	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-3.055000	0.00626	-2.257000	0.00695	-0.717000	0.03617	GCT		PASS	0.557	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		3	39	3	39	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22890587	22890587	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:22890587T>A	ENST00000398741.1	-	6	1738	c.1432A>T	c.(1432-1434)Agc>Tgc	p.S478C	PRAME_ENST00000402697.1_Missense_Mutation_p.S478C|PRAME_ENST00000543184.1_Missense_Mutation_p.S478C|PRAME_ENST00000398743.2_Missense_Mutation_p.S478C|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000539862.1_Missense_Mutation_p.S462C|PRAME_ENST00000405655.3_Missense_Mutation_p.S478C|PRAME_ENST00000424204.2_Missense_Mutation_p.S462C	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	478	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.S478C(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGACCATGCTGGGCCGCCCC	0.582																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1432-1434)AGC>TGC		preferentially expressed antigen in melanoma							103.0	97.0	99.0					22																	22890587		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22890587T>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1432A>T	22.37:g.22890587T>A	ENSP00000381726:p.Ser478Cys					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S462C|PRAME_uc010gtr.2_Missense_Mutation_p.S478C|PRAME_uc002zwg.2_Missense_Mutation_p.S478C|PRAME_uc002zwh.2_Missense_Mutation_p.S478C|PRAME_uc002zwi.2_Missense_Mutation_p.S478C|PRAME_uc002zwj.2_Missense_Mutation_p.S478C|PRAME_uc002zwk.2_Missense_Mutation_p.S478C	p.S478C	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1588	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	478			Mediates interaction with RARA.		B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.1432A>T	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498323	0.26861	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	3.52	-5.41	0.02648	.	0.933841	0.08989	N	0.864754	T	0.48021	0.1477	L	0.36672	1.1	0.09310	N	1	D	0.58620	0.983	P	0.54460	0.753	T	0.57171	-0.7857	10	0.87932	D	0	.	13.8486	0.63483	0.0:0.7542:0.0:0.2458	.	478	P78395	PRAME_HUMAN	C	478;478;478;478;462;478;462	ENSP00000381728:S478C;ENSP00000445675:S478C;ENSP00000381726:S478C;ENSP00000384343:S478C;ENSP00000445097:S462C;ENSP00000385198:S478C;ENSP00000407342:S462C	ENSP00000381726:S478C	S	-	1	0	PRAME	21220587	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.536000	0.06135	-1.404000	0.02050	-0.931000	0.02705	AGC		PASS	0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		58	224	58	224	---	---	---	---
TMEM211	255349	broad.mit.edu	37	22	25331525	25331525	+	Silent	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:25331525G>A	ENST00000423535.1	-	3	377	c.378C>T	c.(376-378)atC>atT	p.I126I	TMEM211_ENST00000382744.1_Silent_p.I55I|TMEM211_ENST00000407886.1_Silent_p.I55I			Q6ICI0	TM211_HUMAN	transmembrane protein 211	126						integral component of membrane (GO:0016021)		p.I55I(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGCAAGGCCGATTGGGAAAA	0.517																																						uc003abk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)ATC>ATT		transmembrane protein 211							82.0	73.0	76.0					22																	25331525		2203	4300	6503	SO:0001819	synonymous_variant	255349					integral to membrane		g.chr22:25331525G>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.378C>T	22.37:g.25331525G>A							p.I55I	NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN			3	190	-			126			Helical; (Potential).			Silent	SNP	ENST00000423535.1	37	c.165C>T																																																																																					PASS	0.517	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		4	177	4	177	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32838705	32838705	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:32838705A>T	ENST00000397452.1	-	7	718	c.608T>A	c.(607-609)aTt>aAt	p.I203N	BPIFC_ENST00000432451.2_Missense_Mutation_p.I17N|BPIFC_ENST00000300399.3_Missense_Mutation_p.I203N|BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	203						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.I203N(1)									TTCACTTGCAATAATGGGACA	0.438																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(607-609)ATT>AAT		bactericidal/permeability-increasing							119.0	95.0	103.0					22																	32838705		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32838705A>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.608T>A	22.37:g.32838705A>T	ENSP00000380594:p.Ile203Asn					BPIL2_uc010gwo.2_Missense_Mutation_p.I17N|BPIL2_uc011amb.1_Translation_Start_Site	p.I203N	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			6	608	-			203					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.608T>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013659	0.35511	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.10960	2.82;2.82;3.0	5.75	4.71	0.59529	.	0.183458	0.49916	D	0.000139	T	0.26048	0.0635	M	0.76838	2.35	0.80722	D	1	P;D	0.55172	0.938;0.97	P;P	0.57846	0.603;0.828	T	0.01283	-1.1396	10	0.87932	D	0	-11.9204	7.8517	0.29459	0.9053:0.0:0.0947:0.0	.	17;203	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	N	203;203;17	ENSP00000380594:I203N;ENSP00000300399:I203N;ENSP00000408920:I17N	ENSP00000300399:I203N	I	-	2	0	BPIFC	31168705	0.995000	0.38212	0.111000	0.21465	0.077000	0.17291	2.257000	0.43240	1.016000	0.39470	0.528000	0.53228	ATT		PASS	0.438	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		4	96	4	96	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35799497	35799497	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:35799497A>C	ENST00000216122.4	+	4	539	c.385A>C	c.(385-387)Aag>Cag	p.K129Q	MCM5_ENST00000382011.5_Intron	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	129					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K129Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGTCATGCTCAAGTCGGACGC	0.627																																						uc003anu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)AAG>CAG		minichromosome maintenance complex component 5							78.0	77.0	77.0					22																	35799497		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35799497A>C		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.385A>C	22.37:g.35799497A>C	ENSP00000216122:p.Lys129Gln					MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Intron	p.K129Q	NM_006739	NP_006730	P33992	MCM5_HUMAN			4	479	+			129					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.385A>C	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105112	0.37145	.	.	ENSG00000100297	ENST00000216122;ENST00000444582;ENST00000416905	T;T	0.12039	2.72;2.72	4.83	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);	0.234812	0.41823	D	0.000811	T	0.11665	0.0284	L	0.39245	1.2	0.80722	D	1	B	0.22983	0.078	B	0.20955	0.032	T	0.10359	-1.0633	10	0.27082	T	0.32	-23.7951	10.558	0.45129	0.8381:0.1619:0.0:0.0	.	129	P33992	MCM5_HUMAN	Q	129;38;161	ENSP00000216122:K129Q;ENSP00000393977:K161Q	ENSP00000216122:K129Q	K	+	1	0	MCM5	34129497	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.111000	0.64628	1.808000	0.52836	0.459000	0.35465	AAG		PASS	0.627	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			80	151	80	151	---	---	---	---
IL2RB	3560	broad.mit.edu	37	22	37539628	37539628	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:37539628A>C	ENST00000216223.5	-	3	334	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	46					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.C46G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTCCAGACACAGGAGATGTTG	0.592																																						uc003aqv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TGT>GGT		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						103.0	87.0	92.0					22																	37539628		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37539628A>C	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.136T>G	22.37:g.37539628A>C	ENSP00000216223:p.Cys46Gly						p.C46G	NM_000878	NP_000869	P14784	IL2RB_HUMAN			3	267	-			46			Extracellular (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.136T>G	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569542	0.65765	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	5.05	5.05	0.67936	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99679	1.0998	10	0.87932	D	0	-13.195	11.1611	0.48516	1.0:0.0:0.0:0.0	.	46	P14784	IL2RB_HUMAN	G	46	ENSP00000216223:C46G;ENSP00000403731:C46G;ENSP00000402685:C46G;ENSP00000401020:C46G	ENSP00000216223:C46G	C	-	1	0	IL2RB	35869574	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	4.716000	0.61916	1.869000	0.54173	0.459000	0.35465	TGT		PASS	0.592	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			28	105	28	105	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38531000	38531000	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:38531000C>A	ENST00000332509.3	-	6	1072	c.889G>T	c.(889-891)Gca>Tca	p.A297S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.A297S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.A297S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	297					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.A297S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCACCTCTGCGTTCTTGGCC	0.657																																						uc003auy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(889-891)GCA>TCA		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						39.0	40.0	40.0					22																	38531000		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531000C>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.889G>T	22.37:g.38531000C>A	ENSP00000333142:p.Ala297Ser					PLA2G6_uc003auz.1_Missense_Mutation_p.A297S|PLA2G6_uc003ava.1_Missense_Mutation_p.A297S|PLA2G6_uc003avb.2_Missense_Mutation_p.A297S|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.A262S	p.A297S	NM_003560	NP_003551	O60733	PA2G6_HUMAN			6	1025	-	Melanoma(58;0.045)		297			ANK 5.		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.889G>T	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904989	0.52333	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	T;T;T	0.64803	-0.12;-0.12;-0.12	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.098934	0.64402	D	0.000002	T	0.72566	0.3476	L	0.45228	1.405	0.80722	D	1	D;P;P	0.69078	0.997;0.889;0.818	D;B;B	0.64237	0.923;0.3;0.442	T	0.69327	-0.5174	10	0.37606	T	0.19	-6.0	19.7782	0.96405	0.0:1.0:0.0:0.0	.	262;297;297	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	S	297;158;297;297;225;297;262	ENSP00000333142:A297S;ENSP00000335149:A297S;ENSP00000386100:A297S	ENSP00000333142:A297S	A	-	1	0	PLA2G6	36860946	1.000000	0.71417	0.295000	0.24960	0.323000	0.28346	5.173000	0.65010	2.667000	0.90743	0.561000	0.74099	GCA		PASS	0.657	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		43	65	43	65	---	---	---	---
APOBEC3D	140564	broad.mit.edu	37	22	39427729	39427729	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr22:39427729A>G	ENST00000216099.8	+	6	1200	c.793A>G	c.(793-795)Agg>Ggg	p.R265G	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.R265G|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.R81G	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	265	CMP/dCMP deaminase zinc-binding 2.				defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.R265G(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCATGCAGAAAGGTGCTTCCT	0.577																																						uc011aoe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)AGG>GGG		apolipoprotein B mRNA editing enzyme, catalytic							145.0	133.0	137.0					22																	39427729		1568	3579	5147	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39427729A>G	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.793A>G	22.37:g.39427729A>G	ENSP00000216099:p.Arg265Gly					APOBEC3D_uc011aof.1_Missense_Mutation_p.R81G|APOBEC3D_uc003awu.3_Missense_Mutation_p.R81G|APOBEC3D_uc003awt.3_Missense_Mutation_p.R265G|APOBEC3D_uc010gxu.2_Missense_Mutation_p.R61G	p.R265G	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN			6	847	+	Melanoma(58;0.04)		265					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.793A>G	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	8.123	0.781394	0.16120	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64618	-0.11;-0.11;-0.11	1.76	-3.52	0.04682	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.49966	0.1588	M	0.71581	2.175	0.09310	N	1	P;B	0.43231	0.801;0.369	B;B	0.34931	0.192;0.065	T	0.47394	-0.9121	9	0.87932	D	0	.	3.953	0.09377	0.4605:0.3208:0.2186:0.0	.	81;265	Q6ICH2;Q96AK3	.;ABC3D_HUMAN	G	265;265;81	ENSP00000370980:R265G;ENSP00000216099:R265G;ENSP00000388017:R81G	ENSP00000216099:R265G	R	+	1	2	APOBEC3D	37757675	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.228000	0.02948	-0.632000	0.05553	-0.495000	0.04643	AGG		PASS	0.577	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		162	242	162	242	---	---	---	---
GK	2710	broad.mit.edu	37	X	30737553	30737553	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:30737553G>A	ENST00000378943.3	+	14	1233	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.V153I|GK_ENST00000378945.3_Missense_Mutation_p.V352I|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.V358I	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	358					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.V352I(1)		central_nervous_system(1)|large_intestine(3)	4						TGCTAAAGAAGTAGGTACTTC	0.328																																						uc004dch.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1072-1074)GTA>ATA		glycerol kinase isoform a							42.0	39.0	40.0					X																	30737553		2200	4297	6497	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30737553G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1054G>A	X.37:g.30737553G>A	ENSP00000368226:p.Val352Ile					GK_uc010ngj.2_Missense_Mutation_p.V352I|GK_uc004dci.3_Missense_Mutation_p.V352I|GK_uc011mjz.1_Missense_Mutation_p.V153I|GK_uc011mka.1_Missense_Mutation_p.V195I|GK_uc010ngk.2_Missense_Mutation_p.V147I	p.V358I	NM_203391	NP_976325	P32189	GLPK_HUMAN			15	1251	+			358					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.1072G>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474910	0.84640	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.76	5.76	0.90799	Carbohydrate kinase, FGGY, C-terminal (1);	0.162822	0.53938	D	0.000051	D	0.91030	0.7178	M	0.79011	2.435	0.54753	D	0.999989	P;P;P;P;P	0.46327	0.876;0.735;0.689;0.689;0.5	P;P;B;B;B	0.49047	0.599;0.514;0.379;0.379;0.396	D	0.91629	0.5317	10	0.62326	D	0.03	.	19.153	0.93496	0.0:0.0:1.0:0.0	.	195;358;352;352;358	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	I	358;352;358;352;153;195	ENSP00000368229:V358I;ENSP00000368226:V352I;ENSP00000368228:V352I;ENSP00000401720:V153I	ENSP00000368226:V352I	V	+	1	0	GK	30647474	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.568000	0.98166	2.560000	0.86352	0.594000	0.82650	GTA		PASS	0.328	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		28	51	28	51	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41307170	41307170	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:41307170C>A	ENST00000342595.2	+	1	484	c.28C>A	c.(28-30)Ctt>Att	p.L10I	NYX_ENST00000378220.1_Missense_Mutation_p.L10I	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	10					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.L10I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GTTGGTCCTGCTTCTGCATGG	0.597																																						uc004dfh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(28-30)CTT>ATT		nyctalopin precursor							129.0	90.0	103.0					X																	41307170		2203	4300	6503	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41307170C>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.28C>A	X.37:g.41307170C>A	ENSP00000340328:p.Leu10Ile					NYX_uc011mku.1_Missense_Mutation_p.L5I	p.L10I	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			1	458	+			10					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.28C>A	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234252	0.39498	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.61040	0.14;0.14	4.46	2.67	0.31697	.	0.819657	0.10823	U	0.630239	T	0.39572	0.1083	L	0.29908	0.895	0.22918	N	0.998561	P	0.52842	0.956	B	0.39935	0.314	T	0.14008	-1.0488	10	0.31617	T	0.26	.	5.552	0.17095	0.0:0.7483:0.0:0.2517	.	10	Q9GZU5	NYX_HUMAN	I	10	ENSP00000340328:L10I;ENSP00000367465:L10I	ENSP00000340328:L10I	L	+	1	0	NYX	41192114	0.999000	0.42202	0.999000	0.59377	0.904000	0.53231	0.669000	0.25142	1.006000	0.39211	0.600000	0.82982	CTT		PASS	0.597	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		3	39	3	39	---	---	---	---
UBA1	7317	broad.mit.edu	37	X	47072255	47072255	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:47072255G>A	ENST00000335972.6	+	22	2822	c.2639G>A	c.(2638-2640)cGg>cAg	p.R880Q	UBA1_ENST00000377269.3_Missense_Mutation_p.R328Q|UBA1_ENST00000377351.4_Missense_Mutation_p.R880Q	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	880					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R880Q(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTGCAGACCGGCACAAGGTG	0.493																																						uc004dhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2638-2640)CGG>CAG		ubiquitin-activating enzyme E1							77.0	61.0	66.0					X																	47072255		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47072255G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2639G>A	X.37:g.47072255G>A	ENSP00000338413:p.Arg880Gln					UBA1_uc004dhk.3_Missense_Mutation_p.R880Q|UBA1_uc004dhm.2_Missense_Mutation_p.R328Q	p.R880Q	NM_153280	NP_695012	P22314	UBA1_HUMAN			22	2790	+			880					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2639G>A	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270826	0.95429	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.47869	0.83;0.83;0.83	5.11	5.11	0.69529	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	H	0.96080	3.765	0.58432	D	0.999999	D;D	0.69078	0.997;0.994	P;P	0.58577	0.841;0.72	D	0.84765	0.0764	10	0.72032	D	0.01	-24.7671	16.6553	0.85226	0.0:0.0:1.0:0.0	.	328;880	Q5JRR6;P22314	.;UBA1_HUMAN	Q	880;880;328	ENSP00000366568:R880Q;ENSP00000338413:R880Q;ENSP00000366481:R328Q	ENSP00000338413:R880Q	R	+	2	0	UBA1	46957199	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.440000	0.97547	2.278000	0.76064	0.523000	0.50628	CGG		PASS	0.493	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		12	55	12	55	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47101681	47101681	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:47101681G>T	ENST00000218348.3	+	10	1509	c.1509G>T	c.(1507-1509)atG>atT	p.M503I	USP11_ENST00000377107.2_Missense_Mutation_p.M460I	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	503	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.M503I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTATCCCCATGGATCCGCGCC	0.542																																						uc004dhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1507-1509)ATG>ATT		ubiquitin specific peptidase 11							44.0	40.0	41.0					X																	47101681		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101681G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1509G>T	X.37:g.47101681G>T	ENSP00000218348:p.Met503Ile					USP11_uc004dhq.2_Missense_Mutation_p.M230I	p.M503I	NM_004651	NP_004642	P51784	UBP11_HUMAN			10	1509	+			503					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1509G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384154	0.42308	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20598	2.07;2.06	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.054859	0.64402	D	0.000001	T	0.19765	0.0475	L	0.38175	1.15	0.47308	D	0.999384	B;P	0.44195	0.082;0.828	B;B	0.43950	0.166;0.437	T	0.02560	-1.1141	10	0.21540	T	0.41	-30.7599	12.3895	0.55350	0.0:0.0:0.8317:0.1683	.	230;503	B3KP28;P51784	.;UBP11_HUMAN	I	460;503	ENSP00000366311:M460I;ENSP00000218348:M503I	ENSP00000218348:M503I	M	+	3	0	USP11	46986625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.401000	0.34589	2.346000	0.79739	0.600000	0.82982	ATG		PASS	0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		14	22	14	22	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50127723	50127723	+	RNA	SNP	C	C	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:50127723C>A	ENST00000376025.2	-	0	2506							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R612L(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTACGGCGTCGTGGGCTTGT	0.398																																						uc010njr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(2446-2448)CGA>CTA		diacylglycerol kinase kappa							144.0	136.0	138.0					X																	50127723		1862	4081	5943			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50127723C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50127723C>A							p.R816L	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			16	2507	-	Ovarian(276;0.236)		816					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.2447G>T																																																																																					PASS	0.398	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		94	156	94	156	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77244009	77244009	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:77244009C>T	ENST00000341514.6	+	3	547	c.392C>T	c.(391-393)cCt>cTt	p.P131L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P131L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	131					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.P131L(2)|p.P131H(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAATAATCCCTTCTATAGTG	0.413																																						uc004ecx.3																			4	Substitution - Missense(4)		lung(4)		0						c.(391-393)CCT>CTT		ATPase, Cu++ transporting, alpha polypeptide							136.0	133.0	134.0					X																	77244009		2202	4296	6498	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244009C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.392C>T	X.37:g.77244009C>T	ENSP00000345728:p.Pro131Leu					ATP7A_uc004ecw.2_Missense_Mutation_p.P131L	p.P131L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			3	552	+			131			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.392C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123425	0.77436	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.88975	-2.45;-2.45	5.53	5.53	0.82687	.	0.061159	0.64402	D	0.000003	D	0.90256	0.6953	L	0.29908	0.895	0.80722	D	1	D;P	0.62365	0.991;0.558	P;B	0.58928	0.848;0.1	D	0.91599	0.5293	10	0.72032	D	0.01	-12.5433	18.5416	0.91030	0.0:1.0:0.0:0.0	.	131;141	Q04656;Q59HD1	ATP7A_HUMAN;.	L	131;131;131;141	ENSP00000343026:P131L;ENSP00000345728:P131L	ENSP00000345728:P131L	P	+	2	0	ATP7A	77130665	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.497000	0.66924	2.321000	0.78463	0.600000	0.82982	CCT		PASS	0.413	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		195	313	195	313	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158967	154158967	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:154158967T>A	ENST00000360256.4	-	14	3298	c.3098A>T	c.(3097-3099)cAc>cTc	p.H1033L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1033	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.H1033L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCATCAATGTGAGTCTTTCT	0.323																																						uc004fmt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3097-3099)CAC>CTC		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						89.0	85.0	86.0					X																	154158967		2202	4297	6499	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158967T>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3098A>T	X.37:g.154158967T>A	ENSP00000353393:p.His1033Leu						p.H1033L	NM_000132	NP_000123	P00451	FA8_HUMAN			14	3269	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1033			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.3098A>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	5.857	0.342286	0.11069	.	.	ENSG00000185010	ENST00000360256	D	0.99232	-5.6	5.58	-1.7	0.08159	.	0.672543	0.14755	N	0.300365	D	0.96993	0.9018	M	0.67953	2.075	0.09310	N	1	B	0.26318	0.146	B	0.22386	0.039	D	0.92720	0.6190	10	0.34782	T	0.22	-1.0569	1.0394	0.01556	0.1472:0.2641:0.1493:0.4393	.	1033	P00451	FA8_HUMAN	L	1033	ENSP00000353393:H1033L	ENSP00000353393:H1033L	H	-	2	0	F8	153812161	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.281000	0.08456	-0.293000	0.08986	0.486000	0.48141	CAC		PASS	0.323	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			80	157	80	157	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						uc001ies.1																			1	Insertion - Frameshift(1)		prostate(1)		0						c.(955-960)GTGATCfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.V319fs	NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	957_958	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	319_320			Cytoplasmic (Potential).		Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																					0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		6	3	6	3	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137850015	137850015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr3:137850015delG	ENST00000236709.3	-	2	285	c.84delC	c.(82-84)agcfs	p.S28fs		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	28					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGAAGAGGCAGCTGGACTTCA	0.557																																						uc003ers.2																			0				central_nervous_system(1)	1						c.(82-84)AGCfs		alpha-1,4-N-acetylglucosaminyltransferase							82.0	82.0	82.0					3																	137850015		2203	4300	6503	SO:0001589	frameshift_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137850015delG	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.84delC	3.37:g.137850015delG	ENSP00000236709:p.Ser28fs						p.S28fs	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	286	-			28			Lumenal (Potential).		Q0VDK1|Q0VDK2	Frame_Shift_Del	DEL	ENST00000236709.3	37	c.84delC	CCDS3097.1																																																																																					0.557	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		72	63	72	63	---	---	---	---
SDR16C5	195814	broad.mit.edu	37	8	57219251	57219251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr8:57219251delC	ENST00000303749.3	-	5	1331	c.694delG	c.(694-696)gaafs	p.E232fs	SDR16C5_ENST00000396721.2_Frame_Shift_Del_p.E188fs|SDR16C5_ENST00000522671.1_Frame_Shift_Del_p.E232fs	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	232					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GTACAACCTTCAAACATTCCA	0.303																																						uc003xsy.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(694-696)GAAfs		epidermal retinal dehydrogenase 2							69.0	69.0	69.0					8																	57219251		2203	4300	6503	SO:0001589	frameshift_variant	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57219251delC		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.694delG	8.37:g.57219251delC	ENSP00000307607:p.Glu232fs					SDR16C5_uc010lyk.1_Frame_Shift_Del_p.E232fs|SDR16C5_uc010lyl.1_Frame_Shift_Del_p.E188fs	p.E232fs	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN			5	1332	-			232					B4DGK2|Q330K3|Q8TDV9|Q96LX1	Frame_Shift_Del	DEL	ENST00000303749.3	37	c.694delG	CCDS6167.1																																																																																					0.303	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969		113	49	113	49	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	3'UTR	INS	-	-	ACACACACACAC	rs72337199|rs66701434|rs373439915	byFrequency	TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr10:50534969_50534970insACACACACACAC	ENST00000374144.3	+	0	4667_4668				C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						CAAAACAAGCAacacacacaca	0.5																																						uc010qgp.1																			1	Unknown(1)		prostate(1)		0						c.(2068-2070)AAC>AACACACACACACAC		hypothetical protein LOC118461 isoform 2																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534969_50534970insACACACACACAC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*72->ACACACACACAC	10.37:g.50534969_50534970insACACACACACAC							p.702_703insTHTH	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			4	2407_2408	+			Error:Variant_position_missing_in_Q711Q0_after_alignment					A0AVL8	In_Frame_Ins	INS	ENST00000374144.3	37	c.2068_2069insACACACACACAC	CCDS44387.1																																																																																					0.500	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		4	2	4	2	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65628268	65628268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chr15:65628268delG	ENST00000327987.4	-	3	687	c.436delC	c.(436-438)cagfs	p.Q146fs	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	146	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACGGTGGCCTGGGGATGCACG	0.597																																						uc002aos.2																			0				ovary(3)	3						c.(436-438)CAGfs		putative neuronal cell adhesion molecule							88.0	77.0	81.0					15																	65628268		2201	4299	6500	SO:0001589	frameshift_variant	9543							g.chr15:65628268delG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.436delC	15.37:g.65628268delG	ENSP00000332773:p.Gln146fs						p.Q146fs	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			3	688	-			146			Extracellular (Potential).|Ig-like C2-type 2.		O95215	Frame_Shift_Del	DEL	ENST00000327987.4	37	c.436delC	CCDS10205.1																																																																																					0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		56	37	56	37	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73067240	73067240	+	lincRNA	DEL	T	T	-			TCGA-60-2723-01A-01D-1522-08	TCGA-60-2723-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8a6aa45a-ef6d-4005-b7c9-e15240dc6dd4	02d30282-dd1a-4a6a-bcf4-fbe06eb299c7	g.chrX:73067240delT	ENST00000429829.1	-	0	5348					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATTGTCTTACttttttttttt	0.478																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.				77,127,862		13,5,34,12,27,51,17,335,107	2.0	2.0	2.0			0.2	0.0	X		2	178,246,1704		34,12,69,29,44,102,44,608,317	no	intergenic				47,17,103,41,71,153,61,943,424	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		19.9248,19.137,19.6619			73067240	255,373,2566	681	1563	2244			7503							g.chrX:73067240delT	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73067240delT								NR_001564						1		-									RNA	DEL	ENST00000429829.1	37	c.5349delA																																																																																						0.478	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	2	4	2	---	---	---	---
