#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
TAS1R1	80835	broad.mit.edu	37	1	6634893	6634893	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:6634893G>T	ENST00000333172.6	+	3	894	c.701G>T	c.(700-702)gGt>gTt	p.G234V	TAS1R1_ENST00000328191.4_Missense_Mutation_p.G234V|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	234					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.G234V(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGCCACTGGTCAGGGGATC	0.617																																						uc001ant.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(700-702)GGT>GTT		sweet taste receptor T1r isoform b							96.0	98.0	97.0					1																	6634893		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634893G>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.701G>T	1.37:g.6634893G>T	ENSP00000331867:p.Gly234Val					TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.G234V	p.G234V	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	701	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	234			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.701G>T	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.343|0.343	-0.949170|-0.949170	0.02304|0.02304	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000328191|ENST00000411823	D;D|.	0.83250|.	-1.7;-1.7|.	5.4|5.4	-3.58|-3.58	0.04597|0.04597	Extracellular ligand-binding receptor (1);|.	2.089040|.	0.01599|.	N|.	0.021920|.	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.22765|0.22765	-1.0207|-1.0207	10|5	0.30078|.	T|.	0.28|.	.|.	2.0606|2.0606	0.03591|0.03591	0.3541:0.2511:0.2895:0.1054|0.3541:0.2511:0.2895:0.1054	.|.	234;234|.	Q7RTX1-3;Q7RTX1|.	.;TS1R1_HUMAN|.	V|F	234|160	ENSP00000331867:G234V;ENSP00000327705:G234V|.	ENSP00000327705:G234V|.	G|V	+|+	2|1	0|0	TAS1R1|TAS1R1	6557480|6557480	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.068000|-0.068000	0.11561|0.11561	-0.970000|-0.970000	0.03569|0.03569	-1.077000|-1.077000	0.02231|0.02231	GGT|GTC		PASS	0.617	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			7	59	7	59	---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23637423	23637423	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:23637423C>A	ENST00000374612.1	-	11	1549	c.1426G>T	c.(1426-1428)Ggt>Tgt	p.G476C	HNRNPR_ENST00000426846.2_Missense_Mutation_p.G316C|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G337C|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G479C|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G438C|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G476C|HNRNPR_ENST00000478691.1_Missense_Mutation_p.G378C	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	476	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G476C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAATCATAACCATAGTAATCA	0.502																																						uc001bgr.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1426-1428)GGT>TGT		heterogeneous nuclear ribonucleoprotein R							143.0	145.0	145.0					1																	23637423		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637423C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1426G>T	1.37:g.23637423C>A	ENSP00000363741:p.Gly476Cys					HNRNPR_uc001bgo.2_Missense_Mutation_p.G86C|HNRNPR_uc001bgp.3_Missense_Mutation_p.G479C|HNRNPR_uc009vqk.2_Missense_Mutation_p.G378C|HNRNPR_uc001bgs.3_Missense_Mutation_p.G375C|HNRNPR_uc010odw.1_Missense_Mutation_p.G438C|HNRNPR_uc010odx.1_Missense_Mutation_p.G316C|HNRNPR_uc009vql.2_Missense_Mutation_p.G337C	p.G476C	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	11	1585	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	476			2.|3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1426G>T	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503496	0.44558	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.26810	1.74;1.71;1.71;2.0;2.54	5.72	5.72	0.89469	.	0.045304	0.85682	D	0.000000	T	0.51770	0.1694	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.62365	0.984;0.984;0.961;0.961;0.984;0.991	P;P;P;P;P;P	0.58210	0.574;0.689;0.574;0.574;0.689;0.835	T	0.55283	-0.8165	10	0.59425	D	0.04	-3.5415	18.4426	0.90671	0.0:1.0:0.0:0.0	.	316;438;337;456;476;479	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	C	479;476;476;438;316	ENSP00000363745:G479C;ENSP00000363741:G476C;ENSP00000304405:G476C;ENSP00000392799:G438C;ENSP00000415042:G316C	ENSP00000304405:G476C	G	-	1	0	HNRNPR	23510010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.771000	0.85420	2.708000	0.92522	0.650000	0.86243	GGT		PASS	0.502	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		6	120	6	120	---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524831	26524831	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:26524831C>A	ENST00000456354.2	+	6	800	c.733C>A	c.(733-735)Cag>Aag	p.Q245K		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	245					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.Q245K(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCATTTCCAGAACATACA	0.532																																						uc010oez.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(733-735)CAG>AAG		cation channel, sperm associated 4							219.0	218.0	218.0					1																	26524831		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524831C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.733C>A	1.37:g.26524831C>A	ENSP00000390423:p.Gln245Lys					CATSPER4_uc010oey.1_Missense_Mutation_p.Q67K|CATSPER4_uc009vsf.2_RNA	p.Q245K	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	733	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	245			Extracellular (Potential).		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.733C>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047191	0.19827	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97328	-4.34;-4.34	4.55	4.55	0.56014	Ion transport (1);	0.128396	0.35677	N	0.003054	D	0.95322	0.8482	L	0.53249	1.67	0.27006	N	0.964794	B;B	0.25351	0.124;0.021	B;B	0.29267	0.1;0.015	D	0.91570	0.5271	10	0.62326	D	0.03	-7.1424	13.1463	0.59463	0.0:1.0:0.0:0.0	.	245;229	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	K	245	ENSP00000341006:Q245K;ENSP00000390423:Q245K	ENSP00000341006:Q245K	Q	+	1	0	CATSPER4	26397418	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	3.121000	0.50438	2.231000	0.72958	0.467000	0.42956	CAG		PASS	0.532	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		7	202	7	202	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27057765	27057765	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:27057765C>A	ENST00000324856.7	+	3	1844	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	ARID1A_ENST00000457599.2_Silent_p.S491S|ARID1A_ENST00000374152.2_Silent_p.S108S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	491					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S491S(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCACCGTCCCAGACCCCTC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - coding silent(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1471-1473)TCC>TCA		AT rich interactive domain 1A isoform a							346.0	317.0	327.0					1																	27057765		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057765C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1473C>A	1.37:g.27057765C>A						ARID1A_uc001bmt.1_Silent_p.S491S|ARID1A_uc001bmu.1_Silent_p.S491S|ARID1A_uc001bmw.1_Silent_p.S108S	p.S491S	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1846	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	491					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.1473C>A	CCDS285.1																																																																																				PASS	0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		8	243	8	243	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31465245	31465245	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:31465245G>C	ENST00000257075.5	-	7	1243	c.1150C>G	c.(1150-1152)Caa>Gaa	p.Q384E	PUM1_ENST00000440538.2_Missense_Mutation_p.Q384E|PUM1_ENST00000373742.2_Missense_Mutation_p.Q324E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q420E|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.Q384E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q288E|PUM1_ENST00000373747.3_Missense_Mutation_p.Q384E	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	384					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Q384E(1)|p.Q384*(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACCTGTTGTTGAGAATTGTAG	0.512																																						uc001bsi.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1150-1152)CAA>GAA		pumilio 1 isoform 2							96.0	89.0	91.0					1																	31465245		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31465245G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1150C>G	1.37:g.31465245G>C	ENSP00000257075:p.Gln384Glu					PUM1_uc001bsf.1_Missense_Mutation_p.Q45E|PUM1_uc001bsg.1_Missense_Mutation_p.Q196E|PUM1_uc001bsh.1_Missense_Mutation_p.Q384E|PUM1_uc001bsj.1_Missense_Mutation_p.Q384E|PUM1_uc010oga.1_Missense_Mutation_p.Q288E|PUM1_uc001bsk.1_Missense_Mutation_p.Q420E|PUM1_uc010ogb.1_Missense_Mutation_p.Q324E	p.Q384E	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	7	1263	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	384					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1150C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.586174|4.586174	0.86851|0.86851	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952|ENST00000525843;ENST00000498419;ENST00000532678	T;T;T;T;T;T;T|.	0.21191|.	2.06;2.31;2.35;2.25;2.33;2.22;2.02|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.052908|.	0.85682|.	D|.	0.000000|.	T|.	0.74306|.	0.3699|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;B;D;B;D;D;D;D|.	0.61080|.	0.989;0.116;0.98;0.184;0.989;0.98;0.989;0.98|.	D;B;D;B;D;D;D;D|.	0.69824|.	0.966;0.031;0.966;0.068;0.966;0.966;0.966;0.966|.	T|.	0.75772|.	-0.3200|.	10|.	0.72032|0.72032	D|D	0.01|0.01	-4.5464|-4.5464	19.1619|19.1619	0.93537|0.93537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	324;288;420;384;384;384;384;384|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	E|X	384;384;122;384;384;420;288;324;384|400;90;105	ENSP00000257075:Q384E;ENSP00000362852:Q384E;ENSP00000391723:Q384E;ENSP00000401777:Q384E;ENSP00000362846:Q420E;ENSP00000399440:Q288E;ENSP00000362847:Q324E|.	ENSP00000257075:Q384E|ENSP00000433850:S90X	Q|S	-|-	1|2	0|0	PUM1|PUM1	31237832|31237832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.378000|9.378000	0.97191|0.97191	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	CAA|TCA		PASS	0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			24	74	24	74	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31465307	31465307	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:31465307G>C	ENST00000257075.5	-	7	1181	c.1088C>G	c.(1087-1089)tCa>tGa	p.S363*	PUM1_ENST00000440538.2_Nonsense_Mutation_p.S363*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.S303*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.S399*|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000426105.2_Nonsense_Mutation_p.S363*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.S267*|PUM1_ENST00000373747.3_Nonsense_Mutation_p.S363*	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	363					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.S363*(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCGTGCCTGAATAATCAAA	0.517																																						uc001bsi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1087-1089)TCA>TGA		pumilio 1 isoform 2							146.0	140.0	142.0					1																	31465307		2203	4300	6503	SO:0001587	stop_gained	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31465307G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1088C>G	1.37:g.31465307G>C	ENSP00000257075:p.Ser363*					PUM1_uc001bsf.1_Nonsense_Mutation_p.S24*|PUM1_uc001bsg.1_Nonsense_Mutation_p.S175*|PUM1_uc001bsh.1_Nonsense_Mutation_p.S363*|PUM1_uc001bsj.1_Nonsense_Mutation_p.S363*|PUM1_uc010oga.1_Nonsense_Mutation_p.S267*|PUM1_uc001bsk.1_Nonsense_Mutation_p.S399*|PUM1_uc010ogb.1_Nonsense_Mutation_p.S303*	p.S363*	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	7	1201	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	363					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Nonsense_Mutation	SNP	ENST00000257075.5	37	c.1088C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288543|5.288543	0.95517|0.95517	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678|ENST00000257075;ENST00000373747;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.337163	.|0.33110	.|N	.|0.005278	T|.	0.67382|.	0.2887|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73448|.	-0.3979|.	3|.	.|0.49607	.|T	.|0.09	-5.3415|-5.3415	14.0601|14.0601	0.64795|0.64795	0.0:0.0:0.8491:0.1509|0.0:0.0:0.8491:0.1509	.|.	.|.	.|.	.|.	L|X	379;69;84|363;363;363;363;399;267;303;363	.|.	.|ENSP00000257075:S363X	F|S	-|-	3|2	2|0	PUM1|PUM1	31237894|31237894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.999000|6.999000	0.76283|0.76283	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	TTC|TCA		PASS	0.517	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			37	114	37	114	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32221657	32221657	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:32221657C>T	ENST00000373658.3	-	4	1122	c.781G>A	c.(781-783)Gag>Aag	p.E261K	BAI2_ENST00000398542.1_Missense_Mutation_p.E249K|BAI2_ENST00000398547.1_Missense_Mutation_p.E249K|BAI2_ENST00000527361.1_Missense_Mutation_p.E261K|BAI2_ENST00000398538.1_Missense_Mutation_p.E249K|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398556.3_Missense_Mutation_p.E264K|BAI2_ENST00000373655.2_Missense_Mutation_p.E261K|BAI2_ENST00000257070.4_Missense_Mutation_p.E261K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	261					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E261K(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AAATCGGCCTCAGCAGGTGGG	0.672																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(781-783)GAG>AAG		brain-specific angiogenesis inhibitor 2							57.0	67.0	63.0					1																	32221657		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221657C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.781G>A	1.37:g.32221657C>T	ENSP00000362762:p.Glu261Lys					BAI2_uc010ogp.1_Missense_Mutation_p.E249K|BAI2_uc010ogq.1_Missense_Mutation_p.E261K|BAI2_uc001bto.2_Missense_Mutation_p.E261K|BAI2_uc001btq.1_Missense_Mutation_p.E249K|BAI2_uc010ogr.1_Missense_Mutation_p.E249K	p.E261K	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1135	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	261			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.781G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997980	0.35226	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.42900	1.63;1.83;1.01;1.01;1.98;0.96;0.96;1.04;1.61;1.47	5.21	5.21	0.72293	.	0.000000	0.42053	D	0.000761	T	0.30008	0.0751	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.14805	0.005;0.011;0.002;0.004;0.0;0.001	B;B;B;B;B;B	0.17722	0.006;0.019;0.001;0.013;0.0;0.0	T	0.10359	-1.0633	10	0.08837	T	0.75	.	17.8978	0.88895	0.0:1.0:0.0:0.0	.	249;261;249;249;261;261	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	K	264;249;261;261;249;261;261;249;254;295	ENSP00000381564:E264K;ENSP00000381555:E249K;ENSP00000362762:E261K;ENSP00000362759:E261K;ENSP00000381550:E249K;ENSP00000257070:E261K;ENSP00000435397:E261K;ENSP00000381548:E249K;ENSP00000410921:E254K;ENSP00000437219:E295K	ENSP00000257070:E261K	E	-	1	0	BAI2	31994244	0.998000	0.40836	0.999000	0.59377	0.977000	0.68977	4.506000	0.60428	2.601000	0.87937	0.561000	0.74099	GAG		PASS	0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		17	36	17	36	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33820487	33820487	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:33820487G>C	ENST00000257118.5	-	7	1397	c.1344C>G	c.(1342-1344)ttC>ttG	p.F448L	PHC2_ENST00000373422.3_Missense_Mutation_p.F53L|RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.F448L|PHC2_ENST00000431992.1_Missense_Mutation_p.F419L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	448					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F448L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGTGTGCTGGAACCTGCGTT	0.617																																						uc001bxg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)TTC>TTG		polyhomeotic-like 2 isoform a							77.0	68.0	71.0					1																	33820487		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33820487G>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1344C>G	1.37:g.33820487G>C	ENSP00000257118:p.Phe448Leu					PHC2_uc001bxh.1_Missense_Mutation_p.F419L|PHC2_uc009vuh.1_Missense_Mutation_p.F448L	p.F448L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			7	1398	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	448					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1344C>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	6.883	0.532351	0.13127	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000419414	T;T;T;T	0.39787	2.09;1.66;1.06;2.11	5.86	4.0	0.46444	.	0.847616	0.10791	N	0.633712	T	0.42131	0.1189	N	0.20401	0.57	0.80722	D	1	D;D;D	0.58268	0.982;0.982;0.982	D;D;D	0.67548	0.952;0.952;0.952	T	0.12041	-1.0563	10	0.09590	T	0.72	-2.4696	8.0382	0.30506	0.1781:0.0:0.8219:0.0	.	448;419;448	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	L	419;448;53;448	ENSP00000389436:F419L;ENSP00000257118:F448L;ENSP00000362521:F53L;ENSP00000391440:F448L	ENSP00000257118:F448L	F	-	3	2	PHC2	33593074	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	3.351000	0.52232	1.495000	0.48549	-0.229000	0.12294	TTC		PASS	0.617	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		8	28	8	28	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35334288	35334288	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:35334288C>G	ENST00000373347.1	-	9	2671	c.2403G>C	c.(2401-2403)atG>atC	p.M801I	DLGAP3_ENST00000235180.4_Missense_Mutation_p.M801I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	801					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.M801I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGCCCGCAGCATCTTGATGA	0.657																																						uc001byc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2401-2403)ATG>ATC		discs, large (Drosophila) homolog-associated							54.0	53.0	53.0					1																	35334288		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334288C>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2403G>C	1.37:g.35334288C>G	ENSP00000362444:p.Met801Ile						p.M801I	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2403	-		Myeloproliferative disorder(586;0.0393)	801					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2403G>C	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911972	0.52439	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.15256	2.44;2.44	5.09	5.09	0.68999	.	0.095540	0.64402	D	0.000001	T	0.08223	0.0205	N	0.02181	-0.65	0.41580	D	0.988738	B	0.11235	0.004	B	0.01281	0.0	T	0.22243	-1.0222	10	0.87932	D	0	-14.7469	15.1144	0.72388	0.0:0.8584:0.1416:0.0	.	801	O95886	DLGP3_HUMAN	I	801	ENSP00000362444:M801I;ENSP00000235180:M801I	ENSP00000235180:M801I	M	-	3	0	DLGAP3	35106875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.520000	0.35899	2.633000	0.89246	0.655000	0.94253	ATG		PASS	0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		9	25	9	25	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39917952	39917952	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:39917952G>T	ENST00000372915.3	+	85	20327	c.20240G>T	c.(20239-20241)aGc>aTc	p.S6747I	MACF1_ENST00000567887.1_Missense_Mutation_p.S6885I|MACF1_ENST00000545844.1_Missense_Mutation_p.S4789I|MACF1_ENST00000289893.4_Missense_Mutation_p.S5291I|MACF1_ENST00000361689.2_Missense_Mutation_p.S4789I|MACF1_ENST00000539005.1_Missense_Mutation_p.S4659I|MACF1_ENST00000317713.7_Missense_Mutation_p.S4789I|MACF1_ENST00000564288.1_Missense_Mutation_p.S6848I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6747					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S4789I(1)|p.S5291I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAACTGAGCACTCGCTGG	0.512																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(15871-15873)AGC>ATC		microfilament and actin filament cross-linker							145.0	154.0	151.0					1																	39917952		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39917952G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20240G>T	1.37:g.39917952G>T	ENSP00000362006:p.Ser6747Ile					MACF1_uc010ois.1_Missense_Mutation_p.S4789I	p.S5291I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		51	16003	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15872G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.506649|5.506649	0.96386|0.96386	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72;0.72	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65037|0.65037	0.2653|0.2653	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.64521|0.64521	-0.6388|-0.6388	5|10	.|0.87932	.|D	.|0	.|.	20.4561|20.4561	0.99145|0.99145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6747;4789	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	D|I	3792|4789;6747;4789;4789;4659;5291	.|ENSP00000439537:S4789I;ENSP00000362006:S6747I;ENSP00000354573:S4789I;ENSP00000313438:S4789I;ENSP00000444364:S4659I;ENSP00000289893:S5291I	.|ENSP00000289893:S5291I	E|S	+|+	3|2	2|0	MACF1|MACF1	39690539|39690539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.866000|9.866000	0.99616|0.99616	2.847000|2.847000	0.97988|0.97988	0.591000|0.591000	0.81541|0.81541	GAG|AGC		PASS	0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		57	149	57	149	---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40872518	40872518	+	5'UTR	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:40872518C>A	ENST00000539317.1	+	0	167					NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q72K(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TAACCTCGACCAGTGGACTCA	0.453																																						uc001cfj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)CAG>AAG		small ArfGAP2							104.0	98.0	100.0					1																	40872518		2203	4300	6503	SO:0001623	5_prime_UTR_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40872518C>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.-27C>A	1.37:g.40872518C>A						SMAP2_uc010ojh.1_Missense_Mutation_p.Q72K|SMAP2_uc001cfk.2_Missense_Mutation_p.Q42K|SMAP2_uc010oji.1_5'UTR	p.Q72K	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		2	279	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	72			Arf-GAP.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.214C>A	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205265	0.79127	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708	T;T	0.39229	1.09;1.09	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	N	0.25060	0.705	0.80722	D	1	D;P	0.61080	0.989;0.842	D;P	0.67725	0.953;0.539	T	0.42932	-0.9422	10	0.39692	T	0.17	-13.0343	18.1147	0.89549	0.0:1.0:0.0:0.0	.	42;72	Q8WU79-2;Q8WU79	.;SMAP2_HUMAN	K	72;72;42	ENSP00000361803:Q72K;ENSP00000361793:Q42K	ENSP00000361793:Q42K	Q	+	1	0	SMAP2	40645105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.453	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		5	77	5	77	---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40879887	40879887	+	Silent	SNP	G	G	A	rs369187907		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:40879887G>A	ENST00000539317.1	+	6	499	c.306G>A	c.(304-306)gcG>gcA	p.A102A	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	182	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A182A(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AATCCACAGCGCCTGTCATGG	0.423																																						uc001cfj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)GCG>GCA		small ArfGAP2		G	,,,	0,4406		0,0,2203	86.0	85.0	85.0		456,531,306,546	-9.0	0.8	1		85	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMAP2	NM_001198978.1,NM_001198979.1,NM_001198980.1,NM_022733.2	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	152/400,177/425,102/350,182/430	40879887	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40879887G>A	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.306G>A	1.37:g.40879887G>A						SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR	p.A182A	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		6	611	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	182			Interaction with clathrin heavy chains (By similarity).		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	ENST00000539317.1	37	c.546G>A	CCDS55593.1																																																																																				PASS	0.423	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		20	39	20	39	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46494545	46494545	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:46494545G>T	ENST00000361297.2	+	18	2441	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	MAST2_ENST00000372009.2_Missense_Mutation_p.V650L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.V720L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGAGTTCCTGGTGGGCTGCGT	0.577																																						uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(2158-2160)GTG>TTG		microtubule associated serine/threonine kinase							204.0	204.0	204.0					1																	46494545		2011	4197	6208	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494545G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2158G>T	1.37:g.46494545G>T	ENSP00000354671:p.Val720Leu					MAST2_uc001cow.2_Missense_Mutation_p.V720L|MAST2_uc001coy.1_Missense_Mutation_p.V394L|MAST2_uc001coz.1_Missense_Mutation_p.V605L|MAST2_uc001cpa.2_RNA	p.V720L	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			18	2441	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		720			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.2158G>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412872	0.83340	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.23950	1.88;1.88;1.88	4.35	3.42	0.39159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	N	0.25144	0.715	0.58432	D	0.999991	P;B;P;P	0.51791	0.75;0.044;0.948;0.655	B;B;P;P	0.49799	0.267;0.071;0.622;0.534	T	0.05338	-1.0891	10	0.87932	D	0	-13.7756	13.8001	0.63194	0.0:0.0:0.8455:0.1545	.	650;394;650;720	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	L	720;650;394;605	ENSP00000354671:V720L;ENSP00000361079:V650L;ENSP00000361078:V605L	ENSP00000354671:V720L	V	+	1	0	MAST2	46267132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.809000	0.99208	0.911000	0.36747	0.561000	0.74099	GTG		PASS	0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		57	144	57	144	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46763281	46763281	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:46763281C>G	ENST00000343304.6	-	3	596	c.311G>C	c.(310-312)cGc>cCc	p.R104P	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	104					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.R104P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTCGGCGCCAGATGGC	0.463																																						uc001cpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(310-312)CGC>CCC		MUF1 protein							102.0	97.0	99.0					1																	46763281		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46763281C>G	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.311G>C	1.37:g.46763281C>G	ENSP00000343298:p.Arg104Pro					LRRC41_uc010omb.1_Missense_Mutation_p.R104P|LRRC41_uc001cpo.1_Missense_Mutation_p.R104P	p.R104P	NM_006369	NP_006360	Q15345	LRC41_HUMAN			3	355	-	Acute lymphoblastic leukemia(166;0.155)		104					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.311G>C	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283627	0.40394	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83075	-1.68	5.8	4.79	0.61399	.	0.231528	0.38720	N	0.001595	T	0.80924	0.4717	N	0.14661	0.345	0.33853	D	0.632819	D;D;D	0.76494	0.989;0.999;0.989	P;D;P	0.64042	0.736;0.921;0.736	D	0.84438	0.0581	10	0.51188	T	0.08	-20.9076	11.0054	0.47631	0.0:0.8816:0.0:0.1184	.	104;82;104	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	P	104;82	ENSP00000343298:R104P	ENSP00000343298:R104P	R	-	2	0	LRRC41	46535868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.804000	0.27098	2.736000	0.93811	0.591000	0.81541	CGC		PASS	0.463	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		18	50	18	50	---	---	---	---
C1orf87	127795	broad.mit.edu	37	1	60503689	60503689	+	Missense_Mutation	SNP	C	C	T	rs540153027	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:60503689C>T	ENST00000371201.3	-	6	945	c.838G>A	c.(838-840)Gag>Aag	p.E280K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	280							calcium ion binding (GO:0005509)	p.E280K(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCATGACTCTCAGTTTTTCTC	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		17457	0.002		0.0	False		,,,				2504	0.0				NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(838-840)GAG>AAG		hypothetical protein LOC127795							102.0	90.0	94.0					1																	60503689		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60503689C>T	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.838G>A	1.37:g.60503689C>T	ENSP00000360244:p.Glu280Lys						p.E280K	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			6	930	-			280					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.838G>A	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	5.340	0.247974	0.10130	.	.	ENSG00000162598	ENST00000371201	T	0.17854	2.25	5.65	1.46	0.22682	.	0.807993	0.11091	N	0.600768	T	0.13200	0.0320	L	0.44542	1.39	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.32981	-0.9886	10	0.09843	T	0.71	-0.5841	10.3674	0.44033	0.0855:0.5624:0.3521:0.0	.	280	Q8N0U7	CA087_HUMAN	K	280	ENSP00000360244:E280K	ENSP00000360244:E280K	E	-	1	0	C1orf87	60276277	0.002000	0.14202	0.002000	0.10522	0.011000	0.07611	0.587000	0.23909	0.459000	0.27016	0.655000	0.94253	GAG		PASS	0.403	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		10	24	10	24	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102686	66102686	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:66102686C>T	ENST00000349533.6	+	20	3671	c.3486C>T	c.(3484-3486)gaC>gaT	p.D1162D	LEPR_ENST00000406510.3_Silent_p.D229D	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.D1162D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGATGTGTGACCTAACTGTGT	0.343																																						uc001dci.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3484-3486)GAC>GAT		leptin receptor isoform 1							52.0	53.0	53.0					1																	66102686		2202	4299	6501	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102686C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3486C>T	1.37:g.66102686C>T						LEPR_uc009waq.2_3'UTR	p.D1162D	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3688	+			1162			Cytoplasmic (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.3486C>T	CCDS631.1																																																																																				PASS	0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		18	61	18	61	---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67895690	67895690	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:67895690G>A	ENST00000370995.2	-	1	379	c.294C>T	c.(292-294)ccC>ccT	p.P98P	SERBP1_ENST00000370994.4_Silent_p.P98P|SERBP1_ENST00000370990.5_Silent_p.P98P|SERBP1_ENST00000361219.6_Silent_p.P98P			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	98					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)	p.P98P(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TAAGCGCCACGGGCGGCTGCG	0.622																																						uc001ddv.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(292-294)CCC>CCT		SERPINE1 mRNA binding protein 1 isoform 1							75.0	92.0	86.0					1																	67895690		2191	4268	6459	SO:0001819	synonymous_variant	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895690G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.294C>T	1.37:g.67895690G>A						SERBP1_uc001ddx.2_Silent_p.P98P|SERBP1_uc001ddy.2_Silent_p.P98P|SERBP1_uc001ddw.2_Silent_p.P98P	p.P98P	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			1	434	-			98					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	ENST00000370995.2	37	c.294C>T	CCDS30746.1																																																																																				PASS	0.622	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		27	88	27	88	---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	75009592	75009592	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:75009592T>C	ENST00000326637.3	+	25	2485	c.2434T>C	c.(2434-2436)Tat>Cat	p.Y812H	TNNI3K_ENST00000465473.1_3'UTR|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Y913H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.Y926H	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.Y812H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGATGCAGGCTATGTATCCGA	0.438																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2434-2436)TAT>CAT		TNNI3 interacting kinase isoform b							141.0	115.0	124.0					1																	75009592		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:75009592T>C	AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2434T>C	1.37:g.75009592T>C	ENSP00000322251:p.Tyr812His					TNNI3K_uc001dge.1_Missense_Mutation_p.Y913H	p.Y812H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			25	2485	+			812						Missense_Mutation	SNP	ENST00000326637.3	37	c.2434T>C	CCDS664.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467386	0.63625	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.75477	-0.94;-0.94;-0.94	5.32	5.32	0.75619	.	0.145914	0.47093	D	0.000260	T	0.61751	0.2372	L	0.32530	0.975	0.42323	D	0.992269	P;P	0.42039	0.769;0.693	P;B	0.46208	0.507;0.381	T	0.70421	-0.4876	10	0.87932	D	0	.	13.0988	0.59208	0.0:0.0:0.0:1.0	.	812;913	Q59H18;Q59H18-1	TNI3K_HUMAN;.	H	913;913;812	ENSP00000450895:Y913H;ENSP00000359928:Y913H;ENSP00000322251:Y812H	ENSP00000322251:Y812H	Y	+	1	0	RP11-653A5.2;AC093158.1	74782180	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.306000	0.65756	2.140000	0.66376	0.459000	0.35465	TAT		PASS	0.438	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		9	47	9	47	---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76259838	76259838	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:76259838G>T	ENST00000319942.3	+	8	846	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	RABGGTB_ENST00000496055.1_3'UTR|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Missense_Mutation_p.D85Y	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	259					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.D259Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TCATTGGATTGATAGAGAGAA	0.408																																						uc001dgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GAT>TAT		RAB geranylgeranyltransferase, beta subunit							132.0	133.0	132.0					1																	76259838		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76259838G>T	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.775G>T	1.37:g.76259838G>T	ENSP00000317473:p.Asp259Tyr					MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.D213Y|RABGGTB_uc001dhc.1_RNA	p.D259Y	NM_004582	NP_004573	P53611	PGTB2_HUMAN			8	846	+			259					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.775G>T	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937224	0.92458	.	.	ENSG00000137955	ENST00000535300;ENST00000319942;ENST00000370824	T;T	0.49139	0.79;0.79	5.44	5.44	0.79542	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.85599	0.1251	10	0.87932	D	0	-20.7988	19.2748	0.94027	0.0:0.0:1.0:0.0	.	259;259	Q59GT6;P53611	.;PGTB2_HUMAN	Y	85;259;259	ENSP00000440452:D85Y;ENSP00000317473:D259Y	ENSP00000317473:D259Y	D	+	1	0	RABGGTB	76032426	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.558000	0.86282	0.655000	0.94253	GAT		PASS	0.408	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		27	86	27	86	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79403931	79403932	+	Nonsense_Mutation	DNP	GT	GT	AA	rs368185894		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:79403931_79403932GT>AA	ENST00000370742.3	-	5	492_493	c.429_430AC>TT	c.(427-432)ctACaa>ctTTaa	p.Q144*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	144					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Q144*(2)|p.Q144K(1)|p.L143L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAGACTTCTTGTAGCAAAGCCA	0.307																																						uc001diq.3																			4	Substitution - Nonsense(2)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(4)	ovary(1)|skin(1)	2						c.(430-432)CAA>TAA|c.(427-429)CTA>CTT		EGF, latrophilin and seven transmembrane domain																																				SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403931G>A|g.chr1:79403932T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.429_430delinsAA	1.37:g.79403931_79403932delinsAA	ENSP00000359778:p.Gln144*						p.Q144*|p.L143L	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	586|585	-			144|143			Extracellular (Potential).		B1AR71|Q5KU34	Nonsense_Mutation|Silent	SNP	ENST00000370742.3	37	c.430C>T|c.429A>T	CCDS41352.1																																																																																				PASS	0.307	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		6	16	6	16	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86437076	86437076	+	Splice_Site	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:86437076C>A	ENST00000370571.2	-	21	2731	c.2365G>T	c.(2365-2367)Gga>Tga	p.G789*	COL24A1_ENST00000436319.1_Splice_Site_p.G789*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	789	Collagen-like 4.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.?(1)|p.G789*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAAGGAGTCCCTATAAAAGC	0.378																																						uc001dlj.2																			2	Substitution - Nonsense(1)|Unknown(1)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2365-2367)GGA>TGA		collagen, type XXIV, alpha 1 precursor							59.0	53.0	55.0					1																	86437076		1825	4075	5900	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86437076C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2365-1G>T	1.37:g.86437076C>A						COL24A1_uc010osd.1_Nonsense_Mutation_p.G89*|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.G789*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	21	2407	-			789			Collagen-like 4.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.2365G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	39	7.557399	0.98358	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.54	5.54	0.83059	.	0.000000	0.32868	N	0.005547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9824	0.71321	0.0:1.0:0.0:0.0	.	.	.	.	X	789	.	ENSP00000359603:G789X	G	-	1	0	COL24A1	86209664	1.000000	0.71417	0.961000	0.40146	0.593000	0.36681	4.413000	0.59795	2.587000	0.87381	0.650000	0.86243	GGA		PASS	0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Nonsense_Mutation	6	23	6	23	---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92612763	92612763	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:92612763A>G	ENST00000342818.3	+	8	1193	c.957A>G	c.(955-957)atA>atG	p.I319M	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	319						nucleus (GO:0005634)		p.I319M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGACGTCTATACTAGAATGCC	0.323																																						uc001doo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(955-957)ATA>ATG		BTB (POZ) domain containing 8							170.0	166.0	167.0					1																	92612763		2203	4300	6503	SO:0001583	missense	284697					nucleus		g.chr1:92612763A>G	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.957A>G	1.37:g.92612763A>G	ENSP00000343686:p.Ile319Met					BTBD8_uc010otc.1_RNA	p.I319M	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	8	1224	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	319					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.957A>G	CCDS737.1	.	.	.	.	.	.	.	.	.	.	A	9.376	1.071816	0.20147	.	.	ENSG00000189195	ENST00000342818	T	0.66815	-0.23	5.49	-5.85	0.02311	.	0.559276	0.16648	N	0.205323	T	0.20618	0.0496	N	0.19112	0.55	0.37970	D	0.933255	B	0.28055	0.199	B	0.20577	0.03	T	0.01626	-1.1309	10	0.49607	T	0.09	-0.0334	2.8324	0.05504	0.2478:0.0833:0.1383:0.5306	.	319	Q5XKL5	BTBD8_HUMAN	M	319	ENSP00000343686:I319M	ENSP00000343686:I319M	I	+	3	3	BTBD8	92385351	0.024000	0.19004	0.023000	0.16930	0.471000	0.32888	-1.160000	0.03147	-0.654000	0.05394	0.455000	0.32223	ATA		PASS	0.323	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		21	64	21	64	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93704969	93704969	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:93704969C>A	ENST00000343253.7	+	20	3205	c.2703C>A	c.(2701-2703)ctC>ctA	p.L901L	CCDC18_ENST00000338949.4_Silent_p.L657L|CCDC18_ENST00000334652.5_Silent_p.L197L|CCDC18_ENST00000401026.3_Silent_p.L902L|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000557479.1_Silent_p.L1020L			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	901				L -> F (in Ref. 1; BAC86410). {ECO:0000305}.				p.L1020L(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAATGCACCTCTCTCAATTAG	0.353																																						uc001dpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3058-3060)CTC>CTA		sarcoma antigen NY-SAR-41							104.0	96.0	98.0					1																	93704969		1859	4094	5953	SO:0001819	synonymous_variant	343099							g.chr1:93704969C>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2703C>A	1.37:g.93704969C>A						CCDC18_uc009wdl.1_Silent_p.L537L	p.L1020L	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	20	3228	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	901	L -> F (in Ref. 1; BAC86410).		Potential.		Q6ZU17	Silent	SNP	ENST00000343253.7	37	c.3060C>A		.	.	.	.	.	.	.	.	.	.	C	4.744	0.138347	0.09083	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.09	-6.84	0.01687	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.30204	N	0.798314	.	.	.	.	.	.	T	0.16482	-1.0401	4	.	.	.	.	3.7722	0.08646	0.1312:0.1296:0.1668:0.5724	.	.	.	.	Y	955	.	.	S	+	2	0	CCDC18	93477557	0.134000	0.22483	0.029000	0.17559	0.756000	0.42949	-0.632000	0.05489	-1.111000	0.02988	-0.253000	0.11424	TCT		PASS	0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	80	5	80	---	---	---	---
SLC35A3	23443	broad.mit.edu	37	1	100477020	100477020	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:100477020G>C	ENST00000370155.3	+	5	957	c.565G>C	c.(565-567)Gct>Cct	p.A189P	SLC35A3_ENST00000465289.1_Missense_Mutation_p.A189P|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.A189P|SLC35A3_ENST00000370153.1_Missense_Mutation_p.A231P	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	189					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.A189P(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AAGTGGCTTTGCTGGGGTTTA	0.353																																					Ovarian(7;298 356 944 2149 6911)	uc001dsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GCT>CCT		solute carrier family 35 member 3A							73.0	75.0	74.0					1																	100477020		2203	4300	6503	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100477020G>C	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.565G>C	1.37:g.100477020G>C	ENSP00000359174:p.Ala189Pro					SLC35A3_uc001dsq.1_Missense_Mutation_p.A189P|SLC35A3_uc009wdy.1_Missense_Mutation_p.A189P|SLC35A3_uc001dsr.1_Missense_Mutation_p.A231P|SLC35A3_uc001dss.1_Missense_Mutation_p.A108P	p.A189P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	5	762	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	189			Helical; (Potential).		A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.565G>C	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677155	0.88445	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.47	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.997	D;D;D	0.83275	0.924;0.996;0.97	D	0.88435	0.3038	10	0.87932	D	0	-14.3384	15.6657	0.77227	0.0:0.0:0.8618:0.1382	.	189;230;189	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	P	189;189;189;231;189	ENSP00000359174:A189P;ENSP00000418527:A189P;ENSP00000414947:A189P;ENSP00000359172:A231P;ENSP00000401679:A189P	ENSP00000359172:A231P	A	+	1	0	SLC35A3	100249608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	1.304000	0.44892	0.585000	0.79938	GCT		PASS	0.353	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		17	60	17	60	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102270020	102270020	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:102270020A>C	ENST00000338858.5	-	6	1210	c.1211T>G	c.(1210-1212)cTg>cGg	p.L404R	OLFM3_ENST00000370103.4_Missense_Mutation_p.L384R|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	404	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.L384R(1)|p.L404R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTGACATACAGTGTCCCACA	0.463																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1210-1212)CTG>CGG		olfactomedin 3							201.0	170.0	180.0					1																	102270020		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270020A>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1211T>G	1.37:g.102270020A>C	ENSP00000345192:p.Leu404Arg					OLFM3_uc001dug.2_Missense_Mutation_p.L384R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.L309R|OLFM3_uc001due.2_RNA	p.L404R	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1282	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	404			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1211T>G		.	.	.	.	.	.	.	.	.	.	A	18.78	3.696092	0.68386	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.95412	-3.7;-3.7	5.67	5.67	0.87782	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.99647	1.0990	10	0.87932	D	0	.	15.8913	0.79299	1.0:0.0:0.0:0.0	.	384;404	Q5T3V6;Q96PB7	.;NOE3_HUMAN	R	384;404	ENSP00000359121:L384R;ENSP00000345192:L404R	ENSP00000345192:L404R	L	-	2	0	OLFM3	102042608	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.339000	0.96797	2.157000	0.67596	0.528000	0.53228	CTG		PASS	0.463	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			26	71	26	71	---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109394803	109394803	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:109394803T>C	ENST00000370001.3	-	2	752	c.484A>G	c.(484-486)Aaa>Gaa	p.K162E	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K162E|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K162E	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	162						cytoplasm (GO:0005737)		p.K162E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTTTGTTCTTTTGGCCAAGAA	0.408																																						uc001dwa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(484-486)AAA>GAA		hypothetical protein LOC254268							55.0	57.0	57.0					1																	109394803		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109394803T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.484A>G	1.37:g.109394803T>C	ENSP00000359018:p.Lys162Glu					AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	p.K162E	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			2	753	-			162					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.484A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922787	0.33908	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.08720	3.09;3.07;3.06	5.92	3.59	0.41128	.	0.717126	0.13941	N	0.352175	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	0.999998	B	0.16166	0.016	B	0.16722	0.016	T	0.41197	-0.9522	10	0.42905	T	0.14	-8.1678	6.0098	0.19569	0.0:0.1396:0.1391:0.7213	.	162	Q5T1N1	AKND1_HUMAN	E	162	ENSP00000359018:K162E;ENSP00000359011:K162E;ENSP00000359012:K162E	ENSP00000359011:K162E	K	-	1	0	AKNAD1	109196326	0.006000	0.16342	0.144000	0.22314	0.008000	0.06430	0.253000	0.18296	0.488000	0.27723	-1.106000	0.02097	AAA		PASS	0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		4	50	4	50	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111215804	111215804	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:111215804G>A	ENST00000369769.2	-	1	1851	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	543					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.P543L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AGGGGTCTGGGGGAAAGCGCT	0.478																																						uc001dzv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1627-1629)CCC>CTC		potassium voltage-gated channel, shaker-related							140.0	129.0	133.0					1																	111215804		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111215804G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1628C>T	1.37:g.111215804G>A	ENSP00000358784:p.Pro543Leu						p.P543L	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1852	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	543					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1628C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	9.988	1.229941	0.22542	.	.	ENSG00000177272	ENST00000369769	D	0.96651	-4.08	5.87	4.93	0.64822	.	0.456574	0.20927	U	0.083162	D	0.82337	0.5015	N	0.08118	0	0.43107	D	0.994807	B	0.32051	0.354	B	0.28465	0.09	T	0.81208	-0.1037	10	0.28530	T	0.3	.	7.6577	0.28386	0.0843:0.0:0.653:0.2627	.	543	P22001	KCNA3_HUMAN	L	543	ENSP00000358784:P543L	ENSP00000358784:P543L	P	-	2	0	KCNA3	111017327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.644000	0.46613	1.430000	0.47334	0.650000	0.86243	CCC		PASS	0.478	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		25	74	25	74	---	---	---	---
FAM46C	54855	broad.mit.edu	37	1	118166109	118166109	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:118166109C>A	ENST00000369448.3	+	2	866	c.619C>A	c.(619-621)Cac>Aac	p.H207N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	207								p.H207N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGAGCACTTCCACCCCACCGT	0.478			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc001ehe.2				Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					1	Substitution - Missense(1)		lung(1)		0						c.(619-621)CAC>AAC		hypothetical protein LOC54855							127.0	125.0	126.0					1																	118166109		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166109C>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.619C>A	1.37:g.118166109C>A	ENSP00000358458:p.His207Asn	Multiple Myeloma(3;1.13e-06)					p.H207N	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	818	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	207					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.619C>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138600	0.56936	.	.	ENSG00000183508	ENST00000369448	T	0.23552	1.9	5.84	4.93	0.64822	Domain of unknown function DUF1693 (1);	0.000000	0.53938	U	0.000050	T	0.38878	0.1057	M	0.74647	2.275	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.25047	-1.0143	10	0.36615	T	0.2	-23.816	13.9601	0.64172	0.0:0.9273:0.0:0.0727	.	207	Q5VWP2	FA46C_HUMAN	N	207	ENSP00000358458:H207N	ENSP00000358458:H207N	H	+	1	0	FAM46C	117967632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.080000	0.71299	1.464000	0.47987	0.563000	0.77884	CAC		PASS	0.478	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		6	91	6	91	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154221798	154221798	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:154221798C>T	ENST00000361546.2	+	11	1140	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	UBAP2L_ENST00000343815.6_Silent_p.F366F|UBAP2L_ENST00000428931.1_Silent_p.F366F|UBAP2L_ENST00000271877.7_Silent_p.F377F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	366					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.F366F(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGAGCAATTCAAGACTGCCC	0.527																																						uc001fep.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1096-1098)TTC>TTT		ubiquitin associated protein 2-like isoform a							123.0	116.0	119.0					1																	154221798		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154221798C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1098C>T	1.37:g.154221798C>T						UBAP2L_uc009wot.2_Silent_p.F366F|UBAP2L_uc010pek.1_Silent_p.F358F|UBAP2L_uc010pel.1_Silent_p.F376F|UBAP2L_uc010pen.1_Silent_p.F280F	p.F366F	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1265	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		366					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.1098C>T	CCDS1063.1																																																																																				PASS	0.527	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		27	70	27	70	---	---	---	---
GBA	2629	broad.mit.edu	37	1	155208008	155208008	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:155208008G>A	ENST00000327247.5	-	7	910	c.678C>T	c.(676-678)acC>acT	p.T226T	GBA_ENST00000368373.3_Silent_p.T226T|GBA_ENST00000536770.1_Silent_p.T113T|GBA_ENST00000427500.3_Silent_p.T177T|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_Silent_p.T139T	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	226					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.T226T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CCGCTCCATTGGTCTTGAGCC	0.567									Gaucher disease type I																													uc001fjh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(676-678)ACC>ACT		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						79.0	68.0	72.0					1																	155208008		2203	4300	6503	SO:0001819	synonymous_variant	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155208008G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.678C>T	1.37:g.155208008G>A						RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.T113T|GBA_uc010pfx.1_Silent_p.T177T|GBA_uc001fji.2_Silent_p.T226T|GBA_uc001fjj.2_Silent_p.T226T|GBA_uc001fjk.2_Silent_p.T226T|GBA_uc001fjl.2_Silent_p.T226T|GBA_uc010pfy.1_Silent_p.T139T|GBA_uc009wqk.1_Silent_p.T139T	p.T226T	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	828	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		226					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	c.678C>T	CCDS1102.1																																																																																				PASS	0.567	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		11	19	11	19	---	---	---	---
SMG5	23381	broad.mit.edu	37	1	156223290	156223290	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:156223290C>T	ENST00000361813.5	-	17	2596	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	818					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.E818K(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CGACGAGCTTCCTCCTGTGCC	0.502																																						uc001foc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(2452-2454)GAA>AAA		SMG5 homolog nonsense mediated mRNA decay							123.0	113.0	116.0					1																	156223290		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156223290C>T	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2452G>A	1.37:g.156223290C>T	ENSP00000355261:p.Glu818Lys					SMG5_uc009wrv.2_Missense_Mutation_p.E303K	p.E818K	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			17	2601	-	Hepatocellular(266;0.158)		818			Potential.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2452G>A	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578425	0.86645	.	.	ENSG00000198952	ENST00000361813	T	0.35421	1.31	6.17	6.17	0.99709	.	0.102875	0.64402	D	0.000004	T	0.43700	0.1259	L	0.41236	1.265	0.80722	D	1	D;B	0.69078	0.997;0.11	D;B	0.75020	0.985;0.039	T	0.02721	-1.1119	10	0.27785	T	0.31	-13.5287	19.4575	0.94900	0.0:1.0:0.0:0.0	.	87;818	Q96SX4;Q9UPR3	.;SMG5_HUMAN	K	818	ENSP00000355261:E818K	ENSP00000355261:E818K	E	-	1	0	SMG5	154489914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.120000	0.77153	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.502	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		7	58	7	58	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156931483	156931483	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:156931483G>T	ENST00000361409.2	-	13	1847	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L409M	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	369	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L409M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTTTCTCCAGGAAAATATTC	0.418																																						uc001fqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1105-1107)CTG>ATG		Rho guanine nucleotide exchange factor (GEF) 11							78.0	84.0	82.0					1																	156931483		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156931483G>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1105C>A	1.37:g.156931483G>T	ENSP00000354644:p.Leu369Met					ARHGEF11_uc001fqn.2_Missense_Mutation_p.L409M	p.L369M	NM_014784	NP_055599	O15085	ARHGB_HUMAN			13	2145	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		369			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1105C>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900320	0.72754	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.86497	-2.13;-2.13	5.2	5.2	0.72013	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.44097	D	0.000481	D	0.92476	0.7611	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93032	0.6449	10	0.87932	D	0	-11.0085	13.2289	0.59931	0.0781:0.0:0.9219:0.0	.	369;409	O15085;O15085-2	ARHGB_HUMAN;.	M	409;369	ENSP00000357177:L409M;ENSP00000354644:L369M	ENSP00000354644:L369M	L	-	1	2	ARHGEF11	155198107	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.289000	0.33307	2.713000	0.92767	0.655000	0.94253	CTG		PASS	0.418	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		15	41	15	41	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158609764	158609764	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:158609764G>A	ENST00000368147.4	-	34	4951	c.4771C>T	c.(4771-4773)Cat>Tat	p.H1591Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1591					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.H1591Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAGCAGATGATCCCAATGT	0.488																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4771-4773)CAT>TAT		spectrin, alpha, erythrocytic 1							182.0	165.0	171.0					1																	158609764		1942	4143	6085	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609764G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4771C>T	1.37:g.158609764G>A	ENSP00000357129:p.His1591Tyr						p.H1591Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			34	4970	-	all_hematologic(112;0.0378)		1591			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4771C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.380584	0.01204	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.53	-11.1	0.00147	.	1.951260	0.03365	N	0.198131	T	0.04770	0.0129	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06570	-1.0819	10	0.16420	T	0.52	.	7.7486	0.28883	0.1555:0.1556:0.524:0.1649	.	1591	P02549	SPTA1_HUMAN	Y	1591	ENSP00000357130:H1591Y;ENSP00000357129:H1591Y	ENSP00000357129:H1591Y	H	-	1	0	SPTA1	156876388	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.041000	0.13927	-4.246000	0.00062	-1.934000	0.00508	CAT		PASS	0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		29	59	29	59	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669494	158669494	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:158669494G>A	ENST00000359610.2	-	1	992	c.949C>T	c.(949-951)Cca>Tca	p.P317S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P317S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAGGTCCCTGGTCTTACGGAA	0.373																																						uc001fsu.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(949-951)CCA>TCA		olfactory receptor, family 6, subfamily K,							71.0	70.0	70.0					1																	158669494		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669494G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.949C>T	1.37:g.158669494G>A	ENSP00000352626:p.Pro317Ser						p.P317S	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	949	-	all_hematologic(112;0.0378)		317			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.949C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091519	0.20471	.	.	ENSG00000196171	ENST00000359610	T	0.00940	5.52	4.39	-1.32	0.09201	.	.	.	.	.	T	0.00241	0.0007	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43972	-0.9358	9	0.59425	D	0.04	5.169	0.6508	0.00826	0.1975:0.1649:0.324:0.3136	.	317	Q8NGY2	OR6K2_HUMAN	S	317	ENSP00000352626:P317S	ENSP00000352626:P317S	P	-	1	0	OR6K2	156936118	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.283000	0.08433	-0.349000	0.08274	0.561000	0.74099	CCA		PASS	0.373	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		23	44	23	44	---	---	---	---
OR10J1	26476	broad.mit.edu	37	1	159410499	159410499	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:159410499G>T	ENST00000423932.3	+	1	988	c.951G>T	c.(949-951)ggG>ggT	p.G317G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	317					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G317G(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTTGGTGGGAAGTTTTCCT	0.488																																						uc010piv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(949-951)GGG>GGT		olfactory receptor, family 10, subfamily J,							67.0	67.0	67.0					1																	159410499		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410499G>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.951G>T	1.37:g.159410499G>T						uc001fts.3_Intron	p.G317G	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	951	+	all_hematologic(112;0.0429)		317			Cytoplasmic (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.951G>T	CCDS1185.1																																																																																				PASS	0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		23	53	23	53	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177030384	177030384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:177030384C>A	ENST00000367654.3	-	2	512	c.301G>T	c.(301-303)Gag>Tag	p.E101*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E101*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E101*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E101*|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	101					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E101*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGATATCCTCTGTGTTCCCT	0.488																																						uc001glc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(301-303)GAG>TAG		astrotactin isoform 1							137.0	130.0	132.0					1																	177030384		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030384C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.301G>T	1.37:g.177030384C>A	ENSP00000356626:p.Glu101*					ASTN1_uc001glb.1_Nonsense_Mutation_p.E101*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E101*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E101*	p.E101*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			2	513	-			101					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.611841	0.97705	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	6.06	6.06	0.98353	.	0.109295	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-23.0752	20.2159	0.98296	0.0:1.0:0.0:0.0	.	.	.	.	X	101	.	ENSP00000354536:E101X	E	-	1	0	ASTN1	175297007	1.000000	0.71417	0.977000	0.42913	0.999000	0.98932	7.679000	0.84048	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	136	6	136	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180068043	180068043	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:180068043G>C	ENST00000367607.3	+	37	9530	c.9112G>C	c.(9112-9114)Gag>Cag	p.E3038Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3038					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E3038Q(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTAAAAAGGAGCCAAACCA	0.378																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(9112-9114)GAG>CAG		centrosome-associated protein 350							93.0	86.0	88.0					1																	180068043		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180068043G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9112G>C	1.37:g.180068043G>C	ENSP00000356579:p.Glu3038Gln					CEP350_uc009wxl.2_Missense_Mutation_p.E3037Q|CEP350_uc001gnv.2_Missense_Mutation_p.E1173Q|CEP350_uc001gnw.1_Missense_Mutation_p.E795Q|CEP350_uc001gnx.1_Missense_Mutation_p.E795Q	p.E3038Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			37	9495	+			3038					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.9112G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.121468|5.121468	0.94385|0.94385	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.58210|.	0.35|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.44483|.	D|.	0.000453|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75484|.	0.986;0.983|.	T|T	0.76315|0.76315	-0.3004|-0.3004	9|5	.|.	.|.	.|.	.|.	19.4743|19.4743	0.94979|0.94979	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3038;3038|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|A	3038;502|1212	ENSP00000356579:E3038Q|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178334666|178334666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.209000|9.209000	0.95087|0.95087	2.606000|2.606000	0.88127|0.88127	0.591000|0.591000	0.81541|0.81541	GAG|GGA		PASS	0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		10	44	10	44	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186283765	186283765	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:186283765C>G	ENST00000367478.4	-	50	7328	c.7032G>C	c.(7030-7032)caG>caC	p.Q2344H	RNU6-1240P_ENST00000365155.1_RNA	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2344					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q2331H(1)|p.Q2344H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTCACCTCTCTGTCTGTTAA	0.353			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(7030-7032)CAG>CAC		nuclear pore complex-associated protein TPR							123.0	115.0	117.0					1																	186283765		1832	4093	5925	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186283765C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.7032G>C	1.37:g.186283765C>G	ENSP00000356448:p.Gln2344His						p.Q2344H	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	50	7329	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2344					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.7032G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274761	0.80580	.	.	ENSG00000047410	ENST00000367478	T	0.25414	1.8	5.35	4.43	0.53597	.	0.759687	0.12834	N	0.435419	T	0.32315	0.0825	L	0.44542	1.39	0.35614	D	0.808884	D	0.61080	0.989	P	0.50708	0.648	T	0.38394	-0.9663	10	0.66056	D	0.02	.	11.4529	0.50164	0.0:0.9151:0.0:0.0849	.	2344	P12270	TPR_HUMAN	H	2344	ENSP00000356448:Q2344H	ENSP00000356448:Q2344H	Q	-	3	2	TPR	184550388	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.299000	0.19138	1.208000	0.43306	0.650000	0.86243	CAG		PASS	0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		8	33	8	33	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067764	190067764	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:190067764T>G	ENST00000367462.3	-	8	1916	c.1685A>C	c.(1684-1686)aAc>aCc	p.N562T	BRINP3_ENST00000534846.1_Missense_Mutation_p.N460T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	562					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.N562T(1)									CAAGGTGCTGTTTTTAGTTAA	0.458																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1684-1686)AAC>ACC		family with sequence similarity 5, member C							80.0	85.0	83.0					1																	190067764		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067764T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1685A>C	1.37:g.190067764T>G	ENSP00000356432:p.Asn562Thr					FAM5C_uc010pot.1_Missense_Mutation_p.N460T	p.N562T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1917	-	Prostate(682;0.198)		562					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1685A>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162231	0.57368	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22336	2.21;1.96	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.47522	-0.9111	10	0.72032	D	0.01	.	14.1263	0.65222	0.0:0.0:0.0:1.0	.	460;562	B7Z260;Q76B58	.;FAM5C_HUMAN	T	562;460	ENSP00000356432:N562T;ENSP00000438022:N460T	ENSP00000356432:N562T	N	-	2	0	FAM5C	188334387	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.104000	0.71498	2.223000	0.72356	0.482000	0.46254	AAC		PASS	0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		31	59	31	59	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196952178	196952178	+	Silent	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:196952178A>G	ENST00000256785.4	+	2	331	c.222A>G	c.(220-222)gaA>gaG	p.E74E	CFHR5_ENST00000367414.5_Silent_p.E98E			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	74	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.E74E(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CATGCACAGAAGAAGGATGGT	0.413																																						uc001gts.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(220-222)GAA>GAG		complement factor H-related 5 precursor							122.0	106.0	111.0					1																	196952178		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952178A>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.222A>G	1.37:g.196952178A>G							p.E74E	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			2	350	+			74			Sushi 1.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.222A>G	CCDS1387.1																																																																																				PASS	0.413	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		17	63	17	63	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203013100	203013100	+	Silent	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:203013100A>G	ENST00000447715.2	+	8	819	c.378A>G	c.(376-378)gaA>gaG	p.E126E	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_5'Flank|PPFIA4_ENST00000367240.2_Silent_p.E126E			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	126					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.E273E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCGCCATGAACGGTCACTGC	0.627																																						uc009xaj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(817-819)GAA>GAG		SubName: Full=Liprin alpha4;							53.0	48.0	49.0					1																	203013100		876	1991	2867	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203013100A>G	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.378A>G	1.37:g.203013100A>G						PPFIA4_uc010pqf.1_5'Flank	p.E273E			O75335	LIPA4_HUMAN			8	819	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.819A>G																																																																																					PASS	0.627	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		5	22	5	22	---	---	---	---
MDM4	4194	broad.mit.edu	37	1	204507405	204507405	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:204507405C>A	ENST00000367182.3	+	7	642	c.480C>A	c.(478-480)acC>acA	p.T160T	MDM4_ENST00000391947.2_Missense_Mutation_p.L138I|MDM4_ENST00000454264.2_Silent_p.T160T|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	160					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.T160T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CACTGCCTACCTCAGAGCATA	0.398			A		"""GBM, bladder, retinoblastoma"""																																	uc001hba.2				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			GBM|bladder|retinoblastoma		1	Substitution - coding silent(1)	p.T160S(1)	lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(478-480)ACC>ACA		mouse double minute 4 homolog							195.0	184.0	188.0					1																	204507405		2203	4300	6503	SO:0001819	synonymous_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204507405C>A	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.480C>A	1.37:g.204507405C>A						MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.T33T|MDM4_uc001hay.1_Silent_p.T160T|MDM4_uc001hbb.2_Silent_p.T33T|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	p.T160T	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		7	642	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		160					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Silent	SNP	ENST00000367182.3	37	c.480C>A	CCDS1447.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415748	0.42817	.	.	ENSG00000198625	ENST00000543518;ENST00000391947	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.55832	0.1945	.	.	.	0.22787	N	0.998733	.	.	.	.	.	.	T	0.54351	-0.8307	5	0.87932	D	0	-3.5541	13.5747	0.61866	0.1551:0.8448:0.0:0.0	.	.	.	.	I	151;138	.	ENSP00000375811:L138I	L	+	1	0	MDM4	202774028	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.400000	0.52594	2.714000	0.92807	0.591000	0.81541	CTC		PASS	0.398	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393		8	177	8	177	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205039002	205039002	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:205039002G>A	ENST00000331830.4	+	18	2528	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	748	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.L748L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTACCTGCTGTCCTTCCGCA	0.662																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2242-2244)CTG>CTA		contactin 2 precursor							120.0	118.0	119.0					1																	205039002		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039002G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2244G>A	1.37:g.205039002G>A						CNTN2_uc001hbq.1_Silent_p.L639L|CNTN2_uc001hbs.2_Silent_p.L536L	p.L748L	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2513	+	all_cancers(21;0.144)|Breast(84;0.0437)		748			Fibronectin type-III 2.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.2244G>A	CCDS1449.1																																																																																				PASS	0.662	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		33	68	33	68	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207785045	207785045	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:207785045C>A	ENST00000367049.4	+	38	6319	c.6319C>A	c.(6319-6321)Ctg>Atg	p.L2107M	CR1_ENST00000367053.1_Missense_Mutation_p.L1657M|CR1_ENST00000367051.1_Missense_Mutation_p.L1657M|CR1_ENST00000400960.2_Missense_Mutation_p.L1657M|CR1_ENST00000367052.1_Missense_Mutation_p.L1657M	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1657					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.L1662M(1)|p.L2107M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGAAATCCTGCATGGTGA	0.507																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4969-4971)CTG>ATG		complement receptor 1 isoform F precursor							107.0	106.0	106.0					1																	207785045		1926	4133	6059	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207785045C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6319C>A	1.37:g.207785045C>A	ENSP00000356016:p.Leu2107Met					CR1_uc001hfx.2_Missense_Mutation_p.L2107M	p.L1657M	NM_000573	NP_000564	P17927	CR1_HUMAN			30	5109	+			1657			Sushi 26.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4969C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319485	0.41096	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	3.36	1.49	0.22878	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73976	0.3656	M	0.77486	2.375	0.09310	N	1	D;D	0.89917	0.98;1.0	P;D	0.76575	0.84;0.988	T	0.59091	-0.7519	9	0.48119	T	0.1	.	5.37	0.16134	0.0:0.7392:0.0:0.2608	.	1657;2107	P17927;E9PDY4	CR1_HUMAN;.	M	1657;1657;1657;1657;2107	ENSP00000356019:L1657M;ENSP00000356018:L1657M;ENSP00000356020:L1657M;ENSP00000383744:L1657M;ENSP00000356016:L2107M	ENSP00000356016:L2107M	L	+	1	2	CR1	205851668	0.000000	0.05858	0.034000	0.17996	0.278000	0.26855	-0.255000	0.08769	0.422000	0.26005	0.561000	0.74099	CTG		PASS	0.507	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	134	6	134	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226835066	226835066	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:226835066G>T	ENST00000272117.3	-	3	2047	c.2048C>A	c.(2047-2049)gCt>gAt	p.A683D	ITPKB_ENST00000429204.1_Missense_Mutation_p.A683D			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	683					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A209D(1)|p.A683D(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCATTGGCAGCTGCCTTGAA	0.612																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2047-2049)GCT>GAT		1D-myo-inositol-trisphosphate 3-kinase B							53.0	51.0	52.0					1																	226835066		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226835066G>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2048C>A	1.37:g.226835066G>T	ENSP00000272117:p.Ala683Asp						p.A683D	NM_002221	NP_002212	P27987	IP3KB_HUMAN			4	2388	-		Prostate(94;0.0773)	683					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2048C>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467727	0.63625	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.13420	2.59;2.59	5.19	5.19	0.71726	.	0.052117	0.85682	D	0.000000	T	0.27524	0.0676	L	0.33245	0.995	0.52501	D	0.99995	D	0.71674	0.998	D	0.64410	0.925	T	0.01600	-1.1315	10	0.62326	D	0.03	-13.6464	18.7174	0.91680	0.0:0.0:1.0:0.0	.	683	P27987	IP3KB_HUMAN	D	683	ENSP00000272117:A683D;ENSP00000411152:A683D	ENSP00000272117:A683D	A	-	2	0	ITPKB	224901689	1.000000	0.71417	0.413000	0.26509	0.658000	0.38924	4.546000	0.60705	2.429000	0.82318	0.655000	0.94253	GCT		PASS	0.612	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		3	6	3	6	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229667459	229667459	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:229667459C>T	ENST00000344517.4	-	7	1401	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	453	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.S453S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCATCAGCTCCGAGTAGAAAG	0.547																																						uc001htp.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1357-1359)TCG>TCA		ATP-binding cassette, sub-family B, member 10							56.0	62.0	60.0					1																	229667459		2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229667459C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1359G>A	1.37:g.229667459C>T							p.S453S	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			7	1402	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	453			Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential).		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.1359G>A	CCDS1580.1																																																																																				PASS	0.547	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		17	35	17	35	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237729895	237729895	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:237729895C>A	ENST00000366574.2	+	28	3560	c.3243C>A	c.(3241-3243)acC>acA	p.T1081T	RYR2_ENST00000360064.6_Silent_p.T1079T|RYR2_ENST00000542537.1_Silent_p.T1065T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1081	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1079T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGCGGCACCGGGGAAAGGT	0.517																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3241-3243)ACC>ACA		cardiac muscle ryanodine receptor							58.0	59.0	59.0					1																	237729895		1900	4131	6031	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729895C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3243C>A	1.37:g.237729895C>A							p.T1081T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3363	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1081			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.3243C>A	CCDS55691.1																																																																																				PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	40	19	40	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947823	237947823	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:237947823G>T	ENST00000366574.2	+	90	13128	c.12811G>T	c.(12811-12813)Gta>Tta	p.V4271L	RYR2_ENST00000360064.6_Missense_Mutation_p.V4277L|RYR2_ENST00000542537.1_Missense_Mutation_p.V4255L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4271					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4269L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAAAAAAGTAAAAAAGAT	0.478																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12811-12813)GTA>TTA		cardiac muscle ryanodine receptor							61.0	61.0	61.0					1																	237947823		1879	4118	5997	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947823G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12811G>T	1.37:g.237947823G>T	ENSP00000355533:p.Val4271Leu					RYR2_uc010pya.1_Missense_Mutation_p.V686L	p.V4271L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12931	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4271					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12811G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452079	0.01080	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95885	-3.84;-3.82;-3.84	5.11	-1.79	0.07932	.	0.798245	0.10811	N	0.631587	D	0.86585	0.5968	N	0.11284	0.12	0.09310	N	0.999998	B;B	0.17465	0.022;0.0	B;B	0.15484	0.013;0.001	T	0.72320	-0.4329	10	0.07325	T	0.83	.	12.053	0.53518	0.6026:0.0:0.3974:0.0	.	1245;4271	B4DGV4;Q92736	.;RYR2_HUMAN	L	4271;4277;4255;1245	ENSP00000355533:V4271L;ENSP00000353174:V4277L;ENSP00000443798:V4255L	ENSP00000353174:V4277L	V	+	1	0	RYR2	236014446	0.006000	0.16342	0.010000	0.14722	0.567000	0.35839	0.077000	0.14738	-0.158000	0.11040	-0.345000	0.07892	GTA		PASS	0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	29	6	29	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246811036	246811036	+	Silent	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:246811036T>C	ENST00000366513.4	+	9	1802	c.1533T>C	c.(1531-1533)tgT>tgC	p.C511C	CNST_ENST00000366512.3_Silent_p.C511C|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	511					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.C511C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATGTGCTCTGTGGAAATAATC	0.453																																						uc001ibp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1531-1533)TGT>TGC		hypothetical protein LOC163882 isoform 1							84.0	84.0	84.0					1																	246811036		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811036T>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1533T>C	1.37:g.246811036T>C						CNST_uc001ibo.3_Silent_p.C511C	p.C511C	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1911	+			511					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1533T>C	CCDS1628.1																																																																																				PASS	0.453	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		26	73	26	73	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247737551	247737551	+	Missense_Mutation	SNP	T	T	A	rs541252771		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr1:247737551T>A	ENST00000366488.4	+	5	379	c.275T>A	c.(274-276)aTt>aAt	p.I92N	GCSAML_ENST00000463359.1_Missense_Mutation_p.I60N|GCSAML_ENST00000366491.2_Missense_Mutation_p.I72N|GCSAML_ENST00000527084.1_Missense_Mutation_p.I60N|GCSAML_ENST00000536561.1_Missense_Mutation_p.I72N|GCSAML_ENST00000527541.1_Missense_Mutation_p.I60N|GCSAML_ENST00000366489.1_Missense_Mutation_p.I72N|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	92								p.I92N(1)									TATGAGAACATTGACTCCCTC	0.463																																						uc001idf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)ATT>AAT		hypothetical protein LOC148823							146.0	123.0	131.0					1																	247737551		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737551T>A	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.275T>A	1.37:g.247737551T>A	ENSP00000355444:p.Ile92Asn					C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	p.I92N	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		5	320	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		92					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.275T>A	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384850	0.61956	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000529512;ENST00000366488;ENST00000536561	.	.	.	3.76	3.76	0.43208	.	0.677329	0.12293	N	0.481853	T	0.53400	0.1794	L	0.53249	1.67	0.09310	N	1	D	0.61697	0.99	P	0.60345	0.873	T	0.39187	-0.9626	9	0.87932	D	0	-6.7447	9.0557	0.36403	0.0:0.0:0.0:1.0	.	92	Q5JQS6	CA150_HUMAN	N	60;60;72;72;60;60;92;72	.	ENSP00000355444:I92N	I	+	2	0	C1orf150	245804174	0.009000	0.17119	0.039000	0.18376	0.879000	0.50718	1.897000	0.39799	1.715000	0.51383	0.482000	0.46254	ATT		PASS	0.463	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		23	42	23	42	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9528581	9528581	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:9528581C>T	ENST00000281419.3	+	22	2629	c.2289C>T	c.(2287-2289)taC>taT	p.Y763Y	ASAP2_ENST00000315273.4_Silent_p.Y763Y|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	763					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.Y763Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGAGACTTACGGAGCCCTCC	0.592																																						uc002qzh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2287-2289)TAC>TAT		ArfGAP with SH3 domain, ankyrin repeat and PH							43.0	49.0	47.0					2																	9528581		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528581C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2289C>T	2.37:g.9528581C>T						ASAP2_uc002qzi.2_Silent_p.Y763Y	p.Y763Y	NM_003887	NP_003878	O43150	ASAP2_HUMAN			22	2629	+			763					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2289C>T	CCDS1661.1																																																																																				PASS	0.592	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		10	45	10	45	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11752682	11752682	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:11752682T>G	ENST00000381486.2	+	19	3368	c.3068T>G	c.(3067-3069)cTg>cGg	p.L1023R	GREB1_ENST00000234142.5_Missense_Mutation_p.L1023R|GREB1_ENST00000396123.1_Missense_Mutation_p.L21R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1023						integral component of membrane (GO:0016021)		p.L1023R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGGAGGGTCTGCCTTGCATC	0.557																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3067-3069)CTG>CGG		growth regulation by estrogen in breast cancer 1							141.0	141.0	141.0					2																	11752682		1979	4155	6134	SO:0001583	missense	9687					integral to membrane		g.chr2:11752682T>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3068T>G	2.37:g.11752682T>G	ENSP00000370896:p.Leu1023Arg					GREB1_uc002rbp.1_Missense_Mutation_p.L21R	p.L1023R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	19	3368	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1023					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3068T>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585457	0.86748	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	D;D;T	0.84298	-1.83;-1.83;0.52	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.92004	0.7467	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92810	0.6263	10	0.72032	D	0.01	-22.548	15.9451	0.79787	0.0:0.0:0.0:1.0	.	1023	Q4ZG55	GREB1_HUMAN	R	1023;1023;21	ENSP00000370896:L1023R;ENSP00000234142:L1023R;ENSP00000379429:L21R	ENSP00000234142:L1023R	L	+	2	0	GREB1	11670133	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.385000	0.79763	2.177000	0.69029	0.533000	0.62120	CTG		PASS	0.557	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		52	44	52	44	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15564444	15564444	+	Silent	SNP	G	G	T	rs200129517		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:15564444G>T	ENST00000281513.5	-	23	2597	c.2572C>A	c.(2572-2574)Cgg>Agg	p.R858R	NBAS_ENST00000441750.1_Silent_p.R858R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	858					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R858R(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTCACCTGCCGAGCATAATGC	0.517																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2572-2574)CGG>AGG		neuroblastoma-amplified protein							185.0	135.0	152.0					2																	15564444		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15564444G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2572C>A	2.37:g.15564444G>T						NBAS_uc010exl.1_Silent_p.R50R|NBAS_uc002rcd.1_RNA	p.R858R	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			23	2598	-			858					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2572C>A	CCDS1685.1																																																																																				PASS	0.517	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		4	68	4	68	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17953948	17953948	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:17953948G>A	ENST00000381254.2	+	8	1064	c.850G>A	c.(850-852)Gat>Aat	p.D284N	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.D284N	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	284					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D284N(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATGTAAAAGTGATAAATATTG	0.343								Homologous recombination																														uc002rct.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(850-852)GAT>AAT	Homologous_recombination	Gen homolog 1, endonuclease							90.0	82.0	85.0					2																	17953948		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17953948G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.850G>A	2.37:g.17953948G>A	ENSP00000370653:p.Asp284Asn					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.D284N|GEN1_uc002rcu.2_Missense_Mutation_p.D284N	p.D284N	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			8	923	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		284					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.850G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262066	0.23051	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.42131	0.98;0.98;0.98	5.63	1.86	0.25419	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.397901	0.24107	N	0.041488	T	0.25754	0.0627	N	0.25647	0.755	0.20074	N	0.999934	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	10	0.12766	T	0.61	-7.6625	10.8011	0.46489	0.32:0.0:0.68:0.0	.	284	Q17RS7	GEN_HUMAN	N	284;284;55	ENSP00000318977:D284N;ENSP00000370653:D284N;ENSP00000431542:D55N	ENSP00000318977:D284N	D	+	1	0	GEN1	17817429	0.000000	0.05858	0.187000	0.23214	0.976000	0.68499	0.047000	0.14056	0.064000	0.16427	-0.137000	0.14449	GAT		PASS	0.343	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		14	48	14	48	---	---	---	---
C2orf44	80304	broad.mit.edu	37	2	24261180	24261180	+	Silent	SNP	T	T	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:24261180T>G	ENST00000295148.4	-	2	1242	c.1185A>C	c.(1183-1185)acA>acC	p.T395T	C2orf44_ENST00000406895.3_Silent_p.T395T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	395								p.T395T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGTTGGTCTGTCAAGAAAC	0.343			T	ALK	NSCLC																																	uc002rep.2				Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1183-1185)ACA>ACC		hypothetical protein LOC80304 isoform 1							100.0	104.0	103.0					2																	24261180		2203	4300	6503	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261180T>G	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1185A>C	2.37:g.24261180T>G						C2orf44_uc010eya.2_Silent_p.T395T	p.T395T	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1316	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		395					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.1185A>C	CCDS1705.1																																																																																				PASS	0.343	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		55	86	55	86	---	---	---	---
EIF2B4	8890	broad.mit.edu	37	2	27591276	27591276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:27591276G>A	ENST00000347454.4	-	6	724	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	EIF2B4_ENST00000493344.2_Nonsense_Mutation_p.Q206*|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000543024.1_5'Flank|SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000537606.1_5'Flank|SNX17_ENST00000542478.1_5'Flank|EIF2B4_ENST00000445933.2_Nonsense_Mutation_p.Q184*|EIF2B4_ENST00000451130.2_Nonsense_Mutation_p.Q205*	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	185					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.Q185*(1)|p.Q205*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTGTACTGGGGTAGGTGA	0.413																																						uc002rkb.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(553-555)CAG>TAG		eukaryotic translation initiation factor 2B,							123.0	114.0	117.0					2																	27591276		2203	4300	6503	SO:0001587	stop_gained	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27591276G>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.553C>T	2.37:g.27591276G>A	ENSP00000233552:p.Gln185*					EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q205*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q170*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q184*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q154*|EIF2B4_uc002rkf.1_3'UTR|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	p.Q185*	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN			6	696	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		185					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Nonsense_Mutation	SNP	ENST00000347454.4	37	c.553C>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575524	0.65878	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-15.8957	16.7698	0.85534	0.0:0.0:1.0:0.0	.	.	.	.	X	185;182;184;205;206	.	ENSP00000233552:Q185X	Q	-	1	0	EIF2B4	27444780	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.661000	0.91125	2.536000	0.85505	0.561000	0.74099	CAG		PASS	0.413	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			29	35	29	35	---	---	---	---
RBKS	64080	broad.mit.edu	37	2	28050574	28050574	+	Nonsense_Mutation	SNP	C	C	A	rs141229815		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:28050574C>A	ENST00000302188.3	-	7	1407	c.655G>T	c.(655-657)Gag>Tag	p.E219*	RBKS_ENST00000444339.2_Nonsense_Mutation_p.E219*	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	219					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)	p.E219*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AATGCAGCCTCCCCAGCATCT	0.488																																						uc002rlo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(655-657)GAG>TAG		ribokinase		C	stop/GLU	1,4405	2.1+/-5.4	0,1,2202	72.0	64.0	67.0		655	4.2	1.0	2	dbSNP_134	67	0,8600		0,0,4300	no	stop-gained	RBKS	NM_022128.1		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		219/323	28050574	1,13005	2203	4300	6503	SO:0001587	stop_gained	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28050574C>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.655G>T	2.37:g.28050574C>A	ENSP00000306817:p.Glu219*					RBKS_uc010ezi.1_Nonsense_Mutation_p.E152*|RBKS_uc010ymg.1_Nonsense_Mutation_p.E219*	p.E219*	NM_022128	NP_071411	Q9H477	RBSK_HUMAN			7	666	-	Acute lymphoblastic leukemia(172;0.155)		219					A9UK04|B4DV96	Nonsense_Mutation	SNP	ENST00000302188.3	37	c.655G>T	CCDS1762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.360721|9.360721	0.99148|0.99148	2.27E-4|2.27E-4	0.0|0.0	ENSG00000171174|ENSG00000171174	ENST00000302188;ENST00000444339|ENST00000458185	.|T	.|0.74947	.|-0.89	5.48|5.48	4.25|4.25	0.50352|0.50352	.|.	0.520968|.	0.23307|.	N|.	0.049617|.	.|T	.|0.69895	.|0.3162	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72161	.|-0.4374	.|5	0.02654|0.33940	T|T	1|0.23	-2.4054|-2.4054	6.5542|6.5542	0.22452|0.22452	0.0:0.0923:0.15:0.7577|0.0:0.0923:0.15:0.7577	.|.	.|.	.|.	.|.	X|V	219|79	.|ENSP00000393558:G79V	ENSP00000306817:E219X|ENSP00000393558:G79V	E|G	-|-	1|2	0|0	RBKS|RBKS	27904078|27904078	0.755000|0.755000	0.28372|0.28372	0.978000|0.978000	0.43139|0.43139	0.736000|0.736000	0.42039|0.42039	1.260000|1.260000	0.32968|0.32968	0.803000|0.803000	0.34113|0.34113	0.491000|0.491000	0.48974|0.48974	GAG|GGA		PASS	0.488	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		12	54	12	54	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29165192	29165192	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:29165192G>T	ENST00000407426.3	+	16	1805	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	583						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E626D(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CAGCATCAGAGAAGACAAAGG	0.443																																						uc002rmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1747-1749)GAG>GAT		WD repeat domain 43							110.0	106.0	107.0					2																	29165192		1907	4119	6026	SO:0001583	missense	23160					nucleolus		g.chr2:29165192G>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1749G>T	2.37:g.29165192G>T	ENSP00000384302:p.Glu583Asp						p.E583D	NM_015131	NP_055946	Q15061	WDR43_HUMAN			16	1781	+	Acute lymphoblastic leukemia(172;0.155)		583					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1749G>T	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.572|9.572	1.121250|1.121250	0.20877|0.20877	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.05199|.	3.48|.	4.49|4.49	-0.125|-0.125	0.13519|0.13519	.|.	0.149903|.	0.64402|.	D|.	0.000011|.	T|T	0.56949|0.56949	0.2020|0.2020	L|L	0.59436|0.59436	1.845|1.845	0.35519|0.35519	D|D	0.801266|0.801266	B|.	0.10296|.	0.003|.	B|.	0.09377|.	0.004|.	T|T	0.59375|0.59375	-0.7466|-0.7466	10|5	0.31617|.	T|.	0.26|.	-13.0324|-13.0324	7.909|7.909	0.29778|0.29778	0.6495:0.0:0.3505:0.0|0.6495:0.0:0.3505:0.0	.|.	583|.	Q15061|.	WDR43_HUMAN|.	D|I	583|135	ENSP00000384302:E583D|.	ENSP00000384302:E583D|.	E|R	+|+	3|2	2|0	WDR43|WDR43	29018696|29018696	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.406000|0.406000	0.30931|0.30931	1.469000|1.469000	0.35343|0.35343	-0.101000|-0.101000	0.12219|0.12219	0.561000|0.561000	0.74099|0.74099	GAG|AGA		PASS	0.443	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		5	73	5	73	---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30381650	30381650	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:30381650C>T	ENST00000379520.3	+	5	811	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	YPEL5_ENST00000379519.3_Missense_Mutation_p.R103C|YPEL5_ENST00000402708.1_Missense_Mutation_p.R103C|YPEL5_ENST00000402003.3_Missense_Mutation_p.R103C|YPEL5_ENST00000261353.4_Missense_Mutation_p.R103C|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	103								p.R103C(2)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GATCCTGGAACGTGCTCTAGT	0.473																																						uc002rna.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(307-309)CGT>TGT		yippee-like 5							120.0	93.0	102.0					2																	30381650		2203	4300	6503	SO:0001583	missense	51646						peptide-methionine-(S)-S-oxide reductase activity	g.chr2:30381650C>T	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.307C>T	2.37:g.30381650C>T	ENSP00000368835:p.Arg103Cys					YPEL5_uc002rnb.3_Missense_Mutation_p.R103C|YPEL5_uc002rnc.3_Missense_Mutation_p.R103C|YPEL5_uc002rmz.3_Missense_Mutation_p.R103C|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Missense_Mutation_p.R103C	p.R103C	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN			5	868	+	Acute lymphoblastic leukemia(172;0.155)		103					D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP	ENST00000379520.3	37	c.307C>T	CCDS1771.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.346327	0.41599	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	5.63	5.63	0.86233	.	0.045785	0.85682	D	0.000000	T	0.72630	0.3484	M	0.90145	3.09	0.80722	D	1	B	0.28350	0.208	B	0.25884	0.064	T	0.75210	-0.3398	9	0.72032	D	0.01	-1.375	14.2132	0.65778	0.1586:0.8414:0.0:0.0	.	103	P62699	YPEL5_HUMAN	C	103	.	ENSP00000261353:R103C	R	+	1	0	YPEL5	30235154	1.000000	0.71417	0.983000	0.44433	0.934000	0.57294	2.242000	0.43106	2.652000	0.90054	0.655000	0.94253	CGT		PASS	0.473	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215128.1	NM_016061		20	88	20	88	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32740388	32740388	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:32740388C>G	ENST00000421745.2	+	55	11034	c.10900C>G	c.(10900-10902)Ctt>Gtt	p.L3634V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3634					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.L3634V(1)|p.L3606V(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)					TTTGCCTTCTCTTCTTGTGAG	0.443																																					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.(10900-10902)CTT>GTT		baculoviral IAP repeat-containing 6							92.0	87.0	89.0					2																	32740388		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740388C>G	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.10900C>G	2.37:g.32740388C>G	ENSP00000393596:p.Leu3634Val						p.L3634V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11034	+	Acute lymphoblastic leukemia(172;0.155)		3634					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10900C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336506	0.60963	.	.	ENSG00000115760	ENST00000421745	T	0.79554	-1.28	5.44	3.54	0.40534	.	0.000000	0.64402	D	0.000001	T	0.79015	0.4375	M	0.77103	2.36	0.58432	D	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.74694	-0.3579	10	0.72032	D	0.01	.	9.7959	0.40735	0.0:0.7806:0.1393:0.0801	.	3634	Q9NR09	BIRC6_HUMAN	V	3634	ENSP00000393596:L3634V	ENSP00000393596:L3634V	L	+	1	0	BIRC6	32593892	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.537000	0.60643	0.594000	0.29761	0.585000	0.79938	CTT		PASS	0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		25	63	25	63	---	---	---	---
STRN	6801	broad.mit.edu	37	2	37126694	37126694	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:37126694C>G	ENST00000263918.4	-	6	775	c.767G>C	c.(766-768)aGa>aCa	p.R256T	STRN_ENST00000379213.2_Missense_Mutation_p.R244T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	256					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R256T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GCTTTTCTCTCTTCCATCAAC	0.338																																						uc002rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(766-768)AGA>ACA		striatin, calmodulin binding protein							78.0	75.0	76.0					2																	37126694		2202	4299	6501	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37126694C>G	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.767G>C	2.37:g.37126694C>G	ENSP00000263918:p.Arg256Thr					STRN_uc010ezx.2_Missense_Mutation_p.R256T	p.R256T	NM_003162	NP_003153	O43815	STRN_HUMAN			6	776	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	256					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.767G>C	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134727	0.56828	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.64991	-0.13;-0.1	6.08	5.2	0.72013	.	0.176940	0.64402	D	0.000012	T	0.57844	0.2081	L	0.53249	1.67	0.49051	D	0.99974	P;P	0.36789	0.534;0.57	B;B	0.37451	0.205;0.25	T	0.54768	-0.8244	10	0.18710	T	0.47	-12.4786	15.3156	0.74074	0.0:0.9334:0.0:0.0666	.	244;256	O43815-2;O43815	.;STRN_HUMAN	T	256;231;244	ENSP00000263918:R256T;ENSP00000368513:R244T	ENSP00000263918:R256T	R	-	2	0	STRN	36980198	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.225000	0.42954	1.593000	0.50029	0.655000	0.94253	AGA		PASS	0.338	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			11	52	11	52	---	---	---	---
PEX13	5194	broad.mit.edu	37	2	61258923	61258923	+	Silent	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:61258923C>G	ENST00000295030.5	+	2	500	c.462C>G	c.(460-462)gtC>gtG	p.V154V	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	154	Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.V154V(1)		endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TTTCAGCTGTCTATAACAGTT	0.398																																						uc002sau.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(460-462)GTC>GTG		peroxisomal biogenesis factor 13							176.0	169.0	171.0					2																	61258923		2203	4300	6503	SO:0001819	synonymous_variant	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61258923C>G	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.462C>G	2.37:g.61258923C>G							p.V154V	NM_002618	NP_002609	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	545	+			154			Targeting to peroxisomes.|Lumenal (Potential).		B2RCS1	Silent	SNP	ENST00000295030.5	37	c.462C>G	CCDS1866.1																																																																																				PASS	0.398	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		58	93	58	93	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71577240	71577240	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:71577240G>T	ENST00000409544.1	+	2	1786	c.1156G>T	c.(1156-1158)Ggt>Tgt	p.G386C	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.G386C|ZNF638_ENST00000355812.3_Missense_Mutation_p.G386C|ZNF638_ENST00000264447.4_Missense_Mutation_p.G386C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	386					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G386C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTCTCCCTTTGGTATTGTGAA	0.408																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1156-1158)GGT>TGT		zinc finger protein 638							138.0	134.0	135.0					2																	71577240		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577240G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1156G>T	2.37:g.71577240G>T	ENSP00000386433:p.Gly386Cys					ZNF638_uc010fec.2_Missense_Mutation_p.G492C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.G386C|ZNF638_uc002shy.2_Missense_Mutation_p.G386C|ZNF638_uc002shz.2_Missense_Mutation_p.G386C|ZNF638_uc002sia.2_Missense_Mutation_p.G386C|ZNF638_uc002sib.1_Missense_Mutation_p.G386C	p.G386C	NM_014497	NP_055312	Q14966	ZN638_HUMAN			2	1475	+			386					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1156G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061291	0.55432	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.78003	-0.56;-1.14;-0.0;-0.56;0.98;0.98	5.85	5.85	0.93711	.	0.056192	0.64402	D	0.000002	T	0.81795	0.4898	L	0.27053	0.805	0.44454	D	0.997383	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;0.999;1.0;1.0;0.999	D	0.83496	0.0072	10	0.87932	D	0	-10.8191	15.6808	0.77367	0.0:0.0:1.0:0.0	.	492;386;386;386;386	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	C	386;492;386;386;386;386	ENSP00000386669:G386C;ENSP00000438189:G492C;ENSP00000348066:G386C;ENSP00000367033:G386C;ENSP00000264447:G386C;ENSP00000386433:G386C	ENSP00000264447:G386C	G	+	1	0	ZNF638	71430748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.914000	0.63348	2.782000	0.95742	0.655000	0.94253	GGT		PASS	0.408	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		6	111	6	111	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86371396	86371396	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:86371396C>G	ENST00000410111.3	-	15	2659	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	IMMT_ENST00000442664.2_Missense_Mutation_p.E757Q|IMMT_ENST00000409051.2_Missense_Mutation_p.E711Q|IMMT_ENST00000254636.5_Missense_Mutation_p.E659Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E747Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	758				E -> D (in Ref. 3; CAG33074). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E758Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAACCTCACTCTGGCTGCACC	0.473																																						uc002sqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2272-2274)GAG>CAG		inner membrane protein, mitochondrial isoform 1							59.0	57.0	58.0					2																	86371396		1907	4127	6034	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371396C>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2272G>C	2.37:g.86371396C>G	ENSP00000387262:p.Glu758Gln					IMMT_uc002sqy.3_Missense_Mutation_p.E499Q|IMMT_uc002srb.3_Missense_Mutation_p.E747Q|IMMT_uc002sra.3_Missense_Mutation_p.E757Q|IMMT_uc010ytd.1_Missense_Mutation_p.E746Q|IMMT_uc010yte.1_Missense_Mutation_p.E711Q	p.E758Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN			15	2660	-			758	E -> D (in Ref. 3; CAG33074).		Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.2272G>C	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.722342|1.722342	0.30503|0.30503	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.35236|.	1.32;1.35;1.36;1.35;1.34|.	4.44|4.44	3.55|3.55	0.40652|0.40652	.|.	0.145672|.	0.32041|.	N|.	0.006672|.	T|T	0.13157|0.13157	0.0319|0.0319	N|N	0.02011|0.02011	-0.69|-0.69	0.24917|0.24917	N|N	0.992003|0.992003	D;D;D;D;D|.	0.71674|.	0.994;0.997;0.998;0.998;0.989|.	D;D;D;D;P|.	0.79784|.	0.979;0.985;0.993;0.993;0.742|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.49607|.	T|.	0.09|.	-13.9033|-13.9033	8.3828|8.3828	0.32481|0.32481	0.0:0.7575:0.1586:0.0839|0.0:0.7575:0.1586:0.0839	.|.	711;746;747;726;758|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	Q|T	659;747;758;757;711;747;726;372;659|612	ENSP00000254636:E659Q;ENSP00000396899:E747Q;ENSP00000387262:E758Q;ENSP00000407788:E757Q;ENSP00000387227:E711Q|.	ENSP00000254636:E659Q|.	E|R	-|-	1|2	0|0	IMMT|IMMT	86224907|86224907	0.036000|0.036000	0.19791|0.19791	0.972000|0.972000	0.41901|0.41901	0.346000|0.346000	0.29079|0.29079	1.134000|1.134000	0.31442|0.31442	1.467000|1.467000	0.48044|0.48044	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.473	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		20	49	20	49	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86371740	86371740	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:86371740C>T	ENST00000410111.3	-	15	2315	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	IMMT_ENST00000442664.2_Missense_Mutation_p.R642Q|IMMT_ENST00000409051.2_Missense_Mutation_p.R596Q|IMMT_ENST00000254636.5_Missense_Mutation_p.R544Q|IMMT_ENST00000449247.2_Missense_Mutation_p.R632Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	643					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.R643Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTACCCTTCGGGCCAGTTT	0.512																																						uc002sqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1927-1929)CGA>CAA		inner membrane protein, mitochondrial isoform 1							127.0	123.0	125.0					2																	86371740		1871	4108	5979	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371740C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1928G>A	2.37:g.86371740C>T	ENSP00000387262:p.Arg643Gln					IMMT_uc002sqy.3_Missense_Mutation_p.R384Q|IMMT_uc002srb.3_Missense_Mutation_p.R632Q|IMMT_uc002sra.3_Missense_Mutation_p.R642Q|IMMT_uc010ytd.1_Missense_Mutation_p.R631Q|IMMT_uc010yte.1_Missense_Mutation_p.R596Q	p.R643Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN			15	2316	-			643			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1928G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461120	0.43736	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.25	3.44	0.39384	.	0.261457	0.38164	N	0.001793	T	0.50786	0.1636	M	0.69823	2.125	0.49582	D	0.999801	B;B;B;B;B	0.27700	0.007;0.062;0.051;0.186;0.062	B;B;B;B;B	0.31614	0.034;0.133;0.082;0.082;0.133	T	0.51301	-0.8723	10	0.59425	D	0.04	0.0062	8.3344	0.32206	0.0:0.7041:0.0:0.2959	.	596;631;632;611;643	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891	.;.;.;.;IMMT_HUMAN	Q	544;632;643;642;596;632;611;257;544	ENSP00000254636:R544Q;ENSP00000396899:R632Q;ENSP00000387262:R643Q;ENSP00000407788:R642Q;ENSP00000387227:R596Q	ENSP00000254636:R544Q	R	-	2	0	IMMT	86225251	0.935000	0.31712	0.953000	0.39169	0.711000	0.40976	1.973000	0.40550	0.780000	0.33566	0.650000	0.86243	CGA		PASS	0.512	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		28	128	28	128	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993213	96993213	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:96993213G>A	ENST00000439118.2	+	3	1095	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.V274M|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.V290M	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	282						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V290M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTAGGGGACGTGCTGTGCCT	0.612																																						uc002svx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(844-846)GTG>ATG		inositol 1,4,5-triphosphate receptor interacting							66.0	62.0	63.0					2																	96993213		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993213G>A		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.844G>A	2.37:g.96993213G>A	ENSP00000389308:p.Val282Met					ITPRIPL1_uc010yuk.1_Missense_Mutation_p.V274M|ITPRIPL1_uc002svy.2_Missense_Mutation_p.V290M|ITPRIPL1_uc010yul.1_Missense_Mutation_p.V274M	p.V282M	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1179	+			282			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.844G>A	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	G	5.855	0.341930	0.11069	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.18502	2.22;2.22;2.21;2.22	5.24	5.24	0.73138	.	0.000000	0.44285	D	0.000480	T	0.11879	0.0289	N	0.08118	0	0.34180	D	0.670804	D;D	0.61697	0.99;0.983	P;P	0.53809	0.735;0.548	T	0.03555	-1.1025	10	0.02654	T	1	-15.4045	11.2036	0.48756	0.0841:0.0:0.9159:0.0	.	290;282	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	M	274;282;290;274	ENSP00000439566:V274M;ENSP00000389308:V282M;ENSP00000355121:V290M;ENSP00000438212:V274M	ENSP00000355121:V290M	V	+	1	0	ITPRIPL1	96356940	0.998000	0.40836	0.974000	0.42286	0.948000	0.59901	2.985000	0.49362	2.706000	0.92434	0.655000	0.94253	GTG		PASS	0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		11	11	11	11	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113509924	113509924	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:113509924C>A	ENST00000302450.6	-	5	1600	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*	CKAP2L_ENST00000541405.1_Nonsense_Mutation_p.E343*	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	508						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E508*(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTTCTTCCTCTTCTTTTTCA	0.353																																						uc002tie.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1522-1524)GAG>TAG		cytoskeleton associated protein 2-like							221.0	220.0	220.0					2																	113509924		2203	4300	6503	SO:0001587	stop_gained	150468					centrosome		g.chr2:113509924C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1522G>T	2.37:g.113509924C>A	ENSP00000305204:p.Glu508*					CKAP2L_uc002tif.2_Nonsense_Mutation_p.E97*|CKAP2L_uc010yxp.1_Nonsense_Mutation_p.E343*|CKAP2L_uc010yxq.1_Nonsense_Mutation_p.E343*	p.E508*	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			5	1601	-			508					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Nonsense_Mutation	SNP	ENST00000302450.6	37	c.1522G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	38	6.988594	0.97983	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	.	.	.	5.61	4.73	0.59995	.	0.108661	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.1198	14.3582	0.66752	0.0:0.8508:0.1492:0.0	.	.	.	.	X	343;508	.	ENSP00000305204:E508X	E	-	1	0	CKAP2L	113226395	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.084000	0.41625	1.352000	0.45808	0.585000	0.79938	GAG		PASS	0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	114	5	114	---	---	---	---
CFAP221	200373	broad.mit.edu	37	2	120388460	120388460	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:120388460G>A	ENST00000413369.3	+	19	2044	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N	PCDP1_ENST00000602047.1_Missense_Mutation_p.D367N	NM_001271049.1	NP_001257978												p.D367N(1)				Colorectal(110;0.196)					TCTAGATTATGATCCTCTGTA	0.443																																						uc002tmb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)GAT>AAT		primary ciliary dyskinesia protein 1							183.0	171.0	175.0					2																	120388460		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120388460G>A																												ENST00000413369.3:c.1957G>A	2.37:g.120388460G>A	ENSP00000393222:p.Asp653Asn					PCDP1_uc010yyq.1_Missense_Mutation_p.D497N	p.D367N	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			20	2191	+	Colorectal(110;0.196)		653						Missense_Mutation	SNP	ENST00000413369.3	37	c.1099G>A	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.118|6.118	0.389924|0.389924	0.11581|0.11581	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972;ENST00000413057	T|.	0.28666|.	1.6|.	5.06|5.06	3.13|3.13	0.36017|0.36017	.|.	0.278938|.	0.30869|.	N|.	0.008718|.	T|T	0.44138|0.44138	0.1279|0.1279	L|L	0.31926|0.31926	0.97|0.97	0.38557|0.38557	D|D	0.949595|0.949595	B;B|.	0.17852|.	0.019;0.024|.	B;B|.	0.15484|.	0.013;0.01|.	T|T	0.35798|0.35798	-0.9774|-0.9774	10|5	0.09843|.	T|.	0.71|.	-16.9226|-16.9226	7.2922|7.2922	0.26372|0.26372	0.0:0.2028:0.6138:0.1834|0.0:0.2028:0.6138:0.1834	.|.	497;653|.	Q4G0U5-3;Q4G0U5|.	.;PCDP1_HUMAN|.	N|I	367;653|211;200	ENSP00000393222:D653N|.	ENSP00000295220:D367N|.	D|M	+|+	1|3	0|0	AC069154.2|AC069154.2	120104930|120104930	0.983000|0.983000	0.35010|0.35010	0.607000|0.607000	0.28956|0.28956	0.182000|0.182000	0.23217|0.23217	0.836000|0.836000	0.27545|0.27545	1.322000|1.322000	0.45245|0.45245	0.563000|0.563000	0.77884|0.77884	GAT|ATG		PASS	0.443	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			43	98	43	98	---	---	---	---
CFC1	55997	broad.mit.edu	37	2	131356251	131356251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:131356251C>A	ENST00000259216.4	-	3	473	c.211G>T	c.(211-213)Gag>Tag	p.E71*		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	71					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)	p.E71*(1)		endometrium(1)|lung(4)	5	Colorectal(110;0.1)					AGCGGCTCCTCCGGCCCCCAG	0.622																																						uc002tro.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(211-213)GAG>TAG		cripto, FRL-1, cryptic family 1B							36.0	52.0	47.0					2																	131356251		2195	4299	6494	SO:0001587	stop_gained	653275				gastrulation	extracellular region		g.chr2:131356251C>A	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.211G>T	2.37:g.131356251C>A	ENSP00000259216:p.Glu71*						p.E71*	NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN			3	602	-	Colorectal(110;0.1)		71					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Nonsense_Mutation	SNP	ENST00000259216.4	37	c.211G>T	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.031788	0.75504	.	.	ENSG00000136698	ENST00000259216	.	.	.	1.72	0.79	0.18613	.	1.102270	0.06830	N	0.793832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-23.2935	5.8232	0.18538	0.0:0.3532:0.6468:0.0	.	.	.	.	X	71	.	ENSP00000259216:E71X	E	-	1	0	CFC1	131072721	0.022000	0.18835	0.002000	0.10522	0.008000	0.06430	0.721000	0.25911	0.277000	0.22141	-0.662000	0.03851	GAG		PASS	0.622	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		4	20	4	20	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135975078	135975078	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:135975078C>T	ENST00000264159.6	-	17	2568	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E816K|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E816K	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	818					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.E818K(1)|p.E281K(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGATCTCTTCCAAAGCAAGA	0.343																																						uc002tum.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(2452-2454)GAA>AAA		zinc finger, RAN-binding domain containing 3							116.0	107.0	110.0					2																	135975078		1837	4086	5923	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135975078C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2452G>A	2.37:g.135975078C>T	ENSP00000264159:p.Glu818Lys					ZRANB3_uc002tuk.2_Missense_Mutation_p.E361K|ZRANB3_uc002tul.2_Missense_Mutation_p.E816K	p.E818K	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	17	2569	-			818					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2452G>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849538	0.91277	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91894	-2.93;-2.93;-2.92	5.78	4.9	0.64082	.	0.114847	0.64402	D	0.000013	D	0.92681	0.7674	M	0.71581	2.175	0.39562	D	0.969145	P;P	0.48089	0.847;0.905	B;P	0.47346	0.342;0.544	D	0.93934	0.7217	10	0.72032	D	0.01	-23.9581	15.2357	0.73430	0.0:0.9314:0.0:0.0686	.	818;816	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	K	281;281;816;818;816	ENSP00000383979:E816K;ENSP00000264159:E818K;ENSP00000441320:E816K	ENSP00000264159:E818K	E	-	1	0	ZRANB3	135691548	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	4.467000	0.60155	2.729000	0.93468	0.650000	0.86243	GAA		PASS	0.343	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		10	33	10	33	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141739765	141739765	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:141739765C>A	ENST00000389484.3	-	18	3822	c.2851G>T	c.(2851-2853)Gac>Tac	p.D951Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	951	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D951Y(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)		TCACCACAGTCGTCTTCCCTG	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2851-2853)GAC>TAC		low density lipoprotein-related protein 1B							148.0	129.0	136.0					2																	141739765		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739765C>A	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.2851G>T	2.37:g.141739765C>A	ENSP00000374135:p.Asp951Tyr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.D133Y	p.D951Y	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)	18	3823	-		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)	951			Extracellular (Potential).|LDL-receptor class A 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2851G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522539	0.85600	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99042	-5.36;-5.36	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99704	0.9887	H	0.99659	4.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97187	0.9855	10	0.54805	T	0.06	.	19.2402	0.93879	0.0:1.0:0.0:0.0	.	134;951	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	951;889;96	ENSP00000374135:D951Y;ENSP00000413239:D96Y	ENSP00000374135:D951Y	D	-	1	0	LRP1B	141456235	1.000000	0.71417	0.995000	0.50966	0.713000	0.41058	7.093000	0.76937	2.538000	0.85594	0.655000	0.94253	GAC		PASS	0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	49	24	49	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157182288	157182288	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:157182288C>G	ENST00000339562.4	-	8	2127	c.1765G>C	c.(1765-1767)Gac>Cac	p.D589H	NR4A2_ENST00000539077.1_Missense_Mutation_p.D600H|NR4A2_ENST00000426264.1_Missense_Mutation_p.D526H|NR4A2_ENST00000429376.1_Nonstop_Mutation_p.*491S|NR4A2_ENST00000409572.1_Missense_Mutation_p.D589H|NR4A2_ENST00000409108.2_Nonstop_Mutation_p.*554S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	589					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D589H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAAAGTTTGTCAATTATTGCT	0.478																																						uc002tyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1765-1767)GAC>CAC		nuclear receptor subfamily 4, group A, member 2							105.0	108.0	107.0					2																	157182288		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182288C>G	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1765G>C	2.37:g.157182288C>G	ENSP00000344479:p.Asp589His					NR4A2_uc002tyx.3_Missense_Mutation_p.D526H|NR4A2_uc010zcf.1_Missense_Mutation_p.D589H	p.D589H	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	2187	-			589					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1765G>C	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.223974|3.223974	0.58668|0.58668	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077|ENST00000409108;ENST00000429376	T;T;T;T|.	0.51071|.	0.72;0.72;0.72;0.72|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Nuclear hormone receptor, ligand-binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72969|.	0.3527|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71870|.	0.975|.	T|.	0.66901|.	-0.5806|.	10|.	0.45353|.	T|.	0.12|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	589|.	P43354|.	NR4A2_HUMAN|.	H|S	589;526;589;600|554;491	ENSP00000344479:D589H;ENSP00000389986:D526H;ENSP00000386747:D589H;ENSP00000444925:D600H|.	ENSP00000344479:D589H|.	D|X	-|-	1|2	0|2	NR4A2|NR4A2	156890534|156890534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAC|TGA		PASS	0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			21	57	21	57	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593231	179593231	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:179593231C>T	ENST00000591111.1	-	64	18695	c.18471G>A	c.(18469-18471)gtG>gtA	p.V6157V	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.V6474V|TTN_ENST00000342992.6_Silent_p.V5230V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12940					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V5230V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAACCTAGCACTCTTAAGT	0.398																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15688-15690)GTG>GTA		titin isoform N2-A							60.0	53.0	55.0					2																	179593231		1912	4125	6037	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593231C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18471G>A	2.37:g.179593231C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V1891V	p.V5230V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	15914	-			6157					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15690G>A																																																																																					PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	33	14	33	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179634819	179634819	+	Missense_Mutation	SNP	T	T	A	rs372008728		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:179634819T>A	ENST00000591111.1	-	36	8833	c.8609A>T	c.(8608-8610)cAa>cTa	p.Q2870L	TTN_ENST00000342175.6_Missense_Mutation_p.Q2824L|TTN_ENST00000360870.5_Missense_Mutation_p.Q2870L|TTN_ENST00000359218.5_Missense_Mutation_p.Q2824L|TTN_ENST00000460472.2_Missense_Mutation_p.Q2824L|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q2870L|TTN_ENST00000342992.6_Missense_Mutation_p.Q2870L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13198					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q2870L(3)|p.Q2824L(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATTCCAATTGCCCGACCAC	0.473																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8608-8610)CAA>CTA		titin isoform N2-A		T	LEU/GLN,LEU/GLN,LEU/GLN,LEU/GLN,LEU/GLN	0,4406		0,0,2203	154.0	145.0	148.0		8471,8609,8609,8471,8471	6.1	0.9	2		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	113,113,113,113,113	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2824/26927,2870/33424,2870/5605,2824/27052,2824/27119	179634819	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634819T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8609A>T	2.37:g.179634819T>A	ENSP00000465570:p.Gln2870Leu					TTN_uc010zfh.1_Missense_Mutation_p.Q2824L|TTN_uc010zfi.1_Missense_Mutation_p.Q2824L|TTN_uc010zfj.1_Missense_Mutation_p.Q2824L|TTN_uc002unb.2_Missense_Mutation_p.Q2870L	p.Q2870L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8833	-			2870					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8609A>T		.	.	.	.	.	.	.	.	.	.	T	11.10	1.540674	0.27563	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75332	0.3835	L	0.40543	1.245	0.42862	D	0.994115	D;D;D;D;D	0.71674	0.959;0.959;0.959;0.959;0.998	P;P;P;P;D	0.66351	0.652;0.652;0.652;0.721;0.943	T	0.77975	-0.2385	9	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	2824;2824;2824;2870;2870	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2870;2824;2824;2824;2824;2870	ENSP00000343764:Q2870L;ENSP00000434586:Q2824L;ENSP00000340554:Q2824L;ENSP00000352154:Q2824L;ENSP00000354117:Q2870L	ENSP00000340554:Q2824L	Q	-	2	0	TTN	179343064	1.000000	0.71417	0.915000	0.36163	0.153000	0.21895	7.698000	0.84413	2.324000	0.78689	0.533000	0.62120	CAA		PASS	0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	58	22	58	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179647559	179647559	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:179647559C>T	ENST00000591111.1	-	18	3298	c.3074G>A	c.(3073-3075)aGc>aAc	p.S1025N	TTN_ENST00000342175.6_Missense_Mutation_p.S979N|TTN_ENST00000360870.5_Missense_Mutation_p.S1025N|TTN_ENST00000359218.5_Missense_Mutation_p.S979N|TTN_ENST00000460472.2_Missense_Mutation_p.S979N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S1025N|TTN_ENST00000342992.6_Missense_Mutation_p.S1025N			Q8WZ42	TITIN_HUMAN	titin	32578	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S1025N(3)|p.S979N(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGATGTGCTGACGGTTCC	0.502																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3073-3075)AGC>AAC		titin isoform N2-A							84.0	70.0	74.0					2																	179647559		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647559C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3074G>A	2.37:g.179647559C>T	ENSP00000465570:p.Ser1025Asn					TTN_uc010zfh.1_Missense_Mutation_p.S979N|TTN_uc010zfi.1_Missense_Mutation_p.S979N|TTN_uc010zfj.1_Missense_Mutation_p.S979N|TTN_uc002unb.2_Missense_Mutation_p.S1025N	p.S1025N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3298	-			1025					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3074G>A		.	.	.	.	.	.	.	.	.	.	C	17.78	3.472700	0.63737	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81312	0.4796	L	0.59912	1.85	0.42037	D	0.991053	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.80870	-0.1189	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	979;979;979;1025;1025	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1025;979;979;979;979;1025	ENSP00000343764:S1025N;ENSP00000434586:S979N;ENSP00000340554:S979N;ENSP00000352154:S979N;ENSP00000354117:S1025N	ENSP00000340554:S979N	S	-	2	0	TTN	179355804	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	AGC		PASS	0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	22	11	22	---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191353382	191353382	+	Splice_Site	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:191353382G>T	ENST00000392328.1	+	5	1954		c.e5-1		MFSD6_ENST00000535751.1_Splice_Site|MFSD6_ENST00000281416.7_Splice_Site	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTCCTCTCCAGGAGTGACACA	0.488																																						uc002urz.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e5-1		major facilitator superfamily domain containing							83.0	84.0	83.0					2																	191353382		2203	4300	6503	SO:0001630	splice_region_variant	54842				transmembrane transport	integral to membrane		g.chr2:191353382G>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1631-1G>T	2.37:g.191353382G>T						MFSD6_uc010zge.1_Splice_Site_p.G6_splice	p.G544_splice	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			5	1955	+								D3KSZ4|Q86TH2|Q9NXM3	Splice_Site	SNP	ENST00000392328.1	37	c.1631_splice	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843523	0.91197	.	.	ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000434582;ENST00000444317;ENST00000542423;ENST00000535751	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD6	191061627	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.800000	0.99124	2.730000	0.93505	0.655000	0.94253	.		PASS	0.488	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		Intron	5	73	5	73	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559200	210559200	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:210559200T>C	ENST00000360351.4	+	7	2812	c.2306T>C	c.(2305-2307)aTa>aCa	p.I769T	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I765T|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	769					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.I769T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAGAACAGATAGAGAAAGTA	0.438																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2305-2307)ATA>ACA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						65.0	66.0	66.0					2																	210559200		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559200T>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2306T>C	2.37:g.210559200T>C	ENSP00000353508:p.Ile769Thr					MAP2_uc002vdc.1_Missense_Mutation_p.I769T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I765T	p.I769T	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2554	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	769					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2306T>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.639483	0.00799	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.16457	2.34;2.34	5.96	-2.3	0.06785	MAP2/Tau projection (1);	1.871560	0.02310	N	0.072010	T	0.08268	0.0206	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.19353	-1.0308	10	0.16896	T	0.51	1.4582	2.6524	0.05003	0.1134:0.3253:0.1176:0.4438	.	765;769	P11137-3;P11137	.;MAP2_HUMAN	T	769;765	ENSP00000353508:I769T;ENSP00000392164:I765T	ENSP00000353508:I769T	I	+	2	0	MAP2	210267445	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.370000	0.07523	-0.635000	0.05531	0.528000	0.53228	ATA		PASS	0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	44	17	44	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211469956	211469957	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:211469956_211469957TG>AT	ENST00000233072.5	+	17	2163_2164	c.1967_1968TG>AT	c.(1966-1968)aTG>aAT	p.M656N	CPS1_ENST00000430249.2_Missense_Mutation_p.M662N|CPS1_ENST00000451903.2_Missense_Mutation_p.M205N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	656	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.M662K(1)|p.M662I(1)|p.M662N(1)|p.M656I(1)|p.M656K(1)|p.M656N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTTGATGCCATGGGTGTTCACA	0.396																																						uc002vee.3																			6	Substitution - Missense(6)		lung(6)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1966-1968)ATG>AAG|c.(1966-1968)ATG>ATT		carbamoyl-phosphate synthetase 1 isoform b																																				SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469956T>A|g.chr2:211469957G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	Exception_encountered	2.37:g.211469956_211469957delinsAT	ENSP00000233072:p.Met656Asn					CPS1_uc010fur.2_Missense_Mutation_p.M662K|CPS1_uc010fus.2_Missense_Mutation_p.M205K|CPS1_uc010fur.2_Missense_Mutation_p.M662I|CPS1_uc010fus.2_Missense_Mutation_p.M205I	p.M656K|p.M656I	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	2099|2100	+			656			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1967T>A|c.1968G>T	CCDS2393.1																																																																																				PASS	0.396	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			17|18	47	17	47	---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	218999763	218999763	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:218999763G>A	ENST00000318507.2	+	3	666	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	80			R -> C (in dbSNP:rs1805038). {ECO:0000269|PubMed:11196695}.		cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.R80H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						AGGGTCGGCCGCTCCGTCACT	0.542																																						uc002vgz.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(1)|breast(1)	2						c.(238-240)CGC>CAC		interleukin 8 receptor beta							137.0	131.0	133.0					2																	218999763		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999763G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.239G>A	2.37:g.218999763G>A	ENSP00000319635:p.Arg80His					CXCR2_uc002vha.1_Missense_Mutation_p.R80H|CXCR2_uc002vhb.1_Missense_Mutation_p.R80H	p.R80H	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	464	+			80			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.239G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800899	0.31869	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.19	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.376195	0.27068	N	0.021099	T	0.44746	0.1308	M	0.78637	2.42	0.24552	N	0.994019	B	0.30824	0.296	B	0.33960	0.173	T	0.43245	-0.9403	10	0.54805	T	0.06	.	9.8422	0.41006	0.0782:0.1408:0.781:0.0	.	80	P25025	CXCR2_HUMAN	H	80	ENSP00000413686:R80H;ENSP00000392348:R80H;ENSP00000319635:R80H;ENSP00000415148:R80H;ENSP00000392698:R80H	ENSP00000319635:R80H	R	+	2	0	CXCR2	218708008	0.110000	0.22057	0.432000	0.26747	0.553000	0.35397	1.576000	0.36504	0.675000	0.31264	0.556000	0.70494	CGC		PASS	0.542	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		42	80	42	80	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219603028	219603028	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:219603028C>A	ENST00000392102.1	+	3	969	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	TTLL4_ENST00000457313.1_Missense_Mutation_p.S45Y|TTLL4_ENST00000442769.1_Missense_Mutation_p.S210Y|TTLL4_ENST00000258398.4_Missense_Mutation_p.S210Y	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	210					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.S210Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCTCCACTCTCTTCCTCCTAT	0.527																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(628-630)TCT>TAT		tubulin tyrosine ligase-like family, member 4							79.0	80.0	79.0					2																	219603028		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603028C>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.629C>A	2.37:g.219603028C>A	ENSP00000375951:p.Ser210Tyr					TTLL4_uc010zkl.1_Missense_Mutation_p.S45Y|TTLL4_uc010fvx.2_Missense_Mutation_p.S210Y	p.S210Y	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	999	+		Renal(207;0.0915)	210					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.629C>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353866	0.41700	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.13901	3.04;3.08;2.55;3.08	3.84	2.96	0.34315	.	0.617807	0.13086	N	0.414946	T	0.11537	0.0281	L	0.32530	0.975	0.09310	N	1	B;B;B	0.33299	0.407;0.407;0.407	B;B;B	0.33750	0.06;0.169;0.169	T	0.20706	-1.0267	10	0.87932	D	0	.	8.8442	0.35159	0.0:0.8946:0.0:0.1054	.	45;210;210	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	Y	45;210;210;210	ENSP00000393332:S45Y;ENSP00000375951:S210Y;ENSP00000396555:S210Y;ENSP00000258398:S210Y	ENSP00000258398:S210Y	S	+	2	0	TTLL4	219311272	0.005000	0.15991	0.428000	0.26697	0.862000	0.49288	1.958000	0.40402	0.830000	0.34757	0.563000	0.77884	TCT		PASS	0.527	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		5	81	5	81	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222428692	222428692	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:222428692C>A	ENST00000281821.2	-	3	623	c.582G>T	c.(580-582)ctG>ctT	p.L194L	EPHA4_ENST00000409938.1_Silent_p.L194L|EPHA4_ENST00000392071.4_Silent_p.L143L|EPHA4_ENST00000409854.1_Silent_p.L194L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	194	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.L194L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGACTGATACCAGGGCGATGC	0.522																																						uc002vmq.2																			2	Substitution - coding silent(2)		lung(2)	lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(580-582)CTG>CTT		ephrin receptor EphA4 precursor							293.0	241.0	259.0					2																	222428692		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428692C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.582G>T	2.37:g.222428692C>A						EPHA4_uc002vmr.2_Silent_p.L194L|EPHA4_uc010zlm.1_Silent_p.L135L|EPHA4_uc010zln.1_Silent_p.L194L	p.L194L	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	624	-		Renal(207;0.0183)	194			Cys-rich.|Extracellular (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.582G>T	CCDS2447.1																																																																																				PASS	0.522	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			5	83	5	83	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223086078	223086078	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:223086078C>A	ENST00000350526.4	-	6	957	c.821G>T	c.(820-822)tGg>tTg	p.W274L	PAX3_ENST00000336840.6_Missense_Mutation_p.W274L|PAX3_ENST00000392070.2_Missense_Mutation_p.W274L|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.W274L|PAX3_ENST00000344493.4_Missense_Mutation_p.W274L|PAX3_ENST00000409551.3_Missense_Mutation_p.W273L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	274					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W274L(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGCTTCCTCCATCTTGCACG	0.448			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766	GRCh37	CM950909	PAX3	M		c.(820-822)TGG>TTG		paired box 3 isoform PAX3							133.0	142.0	139.0					2																	223086078		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223086078C>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.821G>T	2.37:g.223086078C>A	ENSP00000343052:p.Trp274Leu					PAX3_uc002vmt.1_Missense_Mutation_p.W274L|PAX3_uc002vmy.1_Missense_Mutation_p.W273L|PAX3_uc002vmv.1_Missense_Mutation_p.W274L|PAX3_uc002vmw.1_Missense_Mutation_p.W274L|PAX3_uc002vmx.1_Missense_Mutation_p.W274L	p.W274L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1187	-		Renal(207;0.0183)	274			Homeobox.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.821G>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353765	0.82243	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.983;0.98;0.997;0.989	D;P;P;D;P	0.77557	0.99;0.812;0.773;0.98;0.776	D	0.96359	0.9264	10	0.21014	T	0.42	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	274;273;274;274;274	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	274;274;274;274;274;273	ENSP00000375921:W274L;ENSP00000342092:W274L;ENSP00000343052:W274L;ENSP00000375922:W274L;ENSP00000338767:W274L;ENSP00000386750:W273L	ENSP00000338767:W274L	W	-	2	0	PAX3	222794322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.813000	0.96785	0.561000	0.74099	TGG		PASS	0.448	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			7	116	7	116	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228135633	228135633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:228135633G>T	ENST00000396578.3	+	25	1885	c.1723G>T	c.(1723-1725)Gga>Tga	p.G575*	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	575	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.G575*(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)		TGGAACTCCGGGAGTGAAAGG	0.498																																						uc002vom.1																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1723-1725)GGA>TGA		alpha 3 type IV collagen isoform 1 precursor							53.0	57.0	56.0					2																	228135633		1864	4092	5956	SO:0001587	stop_gained	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.chr2:228135633G>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.1723G>T	2.37:g.228135633G>T	ENSP00000379823:p.Gly575*					COL4A3_uc002von.1_Nonsense_Mutation_p.G575*|COL4A3_uc002voo.1_Nonsense_Mutation_p.G575*|COL4A3_uc002vop.1_Nonsense_Mutation_p.G575*|uc002voq.1_Intron|uc002vor.1_Intron	p.G575*	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)	25	1885	+		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)	575			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Nonsense_Mutation	SNP	ENST00000396578.3	37	c.1723G>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	38	6.922298	0.97936	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	.	.	.	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9678	0.86290	0.0:0.0:1.0:0.0	.	.	.	.	X	575	.	ENSP00000323334:G575X	G	+	1	0	COL4A3	227843877	1.000000	0.71417	0.432000	0.26747	0.644000	0.38419	6.210000	0.72176	2.740000	0.93945	0.650000	0.86243	GGA		PASS	0.498	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	43	5	43	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230638891	230638891	+	Silent	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:230638891T>A	ENST00000283943.5	-	37	5569	c.5391A>T	c.(5389-5391)ccA>ccT	p.P1797P	TRIP12_ENST00000389044.4_Silent_p.P1845P|TRIP12_ENST00000389045.3_Silent_p.P1527P	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1797					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.P1797P(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGGAAACCCTGGCAGAGTGA	0.408																																						uc002vpw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(5389-5391)CCA>CCT		thyroid hormone receptor interactor 12							148.0	141.0	143.0					2																	230638891		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230638891T>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5391A>T	2.37:g.230638891T>A						TRIP12_uc002vpx.1_Silent_p.P1845P|TRIP12_uc002vpy.1_Silent_p.P1527P	p.P1797P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	37	5500	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1797					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.5391A>T	CCDS33391.1																																																																																				PASS	0.408	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		31	63	31	63	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233404757	233404757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:233404757C>A	ENST00000389494.3	+	2	132	c.111C>A	c.(109-111)taC>taA	p.Y37*	CHRNG_ENST00000389492.3_Nonsense_Mutation_p.Y37*	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	37					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.Y37*(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGCAAAACTACGACCCCAACC	0.617																																						uc002vsx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(109-111)TAC>TAA		cholinergic receptor, nicotinic, gamma							65.0	71.0	69.0					2																	233404757		2203	4300	6503	SO:0001587	stop_gained	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233404757C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.111C>A	2.37:g.233404757C>A	ENSP00000374145:p.Tyr37*					CHRNG_uc010fyd.2_Nonsense_Mutation_p.Y37*|CHRNG_uc010fye.1_Nonsense_Mutation_p.Y37*	p.Y37*	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	2	132	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	37			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Nonsense_Mutation	SNP	ENST00000389494.3	37	c.111C>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010528	0.54361	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	.	.	.	4.01	-0.248	0.13015	.	0.173728	0.39475	N	0.001345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6799	0.28507	0.0:0.446:0.0:0.554	.	.	.	.	X	37	.	ENSP00000374143:Y37X	Y	+	3	2	CHRNG	233113001	0.084000	0.21492	0.845000	0.33349	0.335000	0.28730	0.185000	0.16958	0.045000	0.15804	-0.480000	0.04831	TAC		PASS	0.617	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		6	30	6	30	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10311830	10311830	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:10311830G>T	ENST00000287652.4	+	4	2015	c.964G>T	c.(964-966)Gtg>Ttg	p.V322L	TATDN2_ENST00000448281.2_Missense_Mutation_p.V322L|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	322					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.V322L(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGATAGGGAGGTGGTGATGGA	0.507																																						uc003bvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(964-966)GTG>TTG		TatD DNase domain containing 2							93.0	92.0	92.0					3																	10311830		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10311830G>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.964G>T	3.37:g.10311830G>T	ENSP00000287652:p.Val322Leu					TATDN2_uc003bvf.2_Missense_Mutation_p.V322L|TATDN2_uc011atr.1_Missense_Mutation_p.V322L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.V322L	NM_014760	NP_055575	Q93075	TATD2_HUMAN			4	1545	+			322					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.964G>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119432	0.37436	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.39592	1.07;1.07	4.73	3.83	0.44106	.	0.370779	0.17593	U	0.168697	T	0.36799	0.0980	L	0.60455	1.87	0.27508	N	0.951761	B	0.16166	0.016	B	0.12156	0.007	T	0.24119	-1.0169	10	0.51188	T	0.08	-20.7501	7.8424	0.29406	0.1899:0.0:0.8101:0.0	.	322	Q93075	TATD2_HUMAN	L	322	ENSP00000287652:V322L;ENSP00000408736:V322L	ENSP00000287652:V322L	V	+	1	0	TATDN2	10286830	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.811000	0.47986	2.353000	0.79882	0.644000	0.83932	GTG		PASS	0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		20	54	20	54	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12224840	12224840	+	RNA	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:12224840G>T	ENST00000432424.2	+	0	1509							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.S377I(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CCGGACTCAAGCAAGACCCCA	0.458																																						uc003bwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1336-1338)AGC>ATC		synapsin II isoform IIa							52.0	52.0	52.0					3																	12224840		1856	4103	5959			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12224840G>T		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12224840G>T						SYN2_uc003bwl.1_Missense_Mutation_p.S446I|SYN2_uc003bwn.2_Missense_Mutation_p.S120I	p.S446I	NM_133625	NP_598328	Q92777	SYN2_HUMAN			15	1501	+			446					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.1337G>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.301929	0.40694	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.94	4.94	0.65067	.	0.289105	0.33005	N	0.005388	T	0.16769	0.0403	N	0.03608	-0.345	0.25668	N	0.98593	B;B	0.22276	0.067;0.008	B;B	0.12837	0.008;0.007	T	0.11108	-1.0601	9	0.87932	D	0	-8.6331	9.1221	0.36793	0.1708:0.0:0.8292:0.0	.	446;446	Q92777;Q92777-2	SYN2_HUMAN;.	I	378	.	ENSP00000442512:S378I	S	+	2	0	SYN2	12199840	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	2.262000	0.43285	2.447000	0.82792	0.655000	0.94253	AGC		PASS	0.458	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	36	7	36	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13395089	13395089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:13395089C>A	ENST00000254508.5	-	18	2675	c.2593G>T	c.(2593-2595)Gag>Tag	p.E865*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	865					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)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.E865*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGTGGGACTCCTGGTAGCCA	0.587																																						uc003bxv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(2593-2595)GAG>TAG		nucleoporin 210 precursor							89.0	86.0	87.0					3																	13395089		2203	4300	6503	SO:0001587	stop_gained	23225				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.chr3:13395089C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2593G>T	3.37:g.13395089C>A	ENSP00000254508:p.Glu865*					NUP210_uc003bxw.2_Nonsense_Mutation_p.E41*|NUP210_uc003bxx.2_Nonsense_Mutation_p.E537*	p.E865*	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			18	2676	-	all_neural(104;0.187)		865			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	ENST00000254508.5	37	c.2593G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	38	7.230968	0.98150	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.18	1.26	0.21427	.	0.682914	0.15177	N	0.276306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-4.9959	5.4545	0.16582	0.0736:0.2681:0.5266:0.1317	.	.	.	.	X	865	.	ENSP00000254508:E865X	E	-	1	0	NUP210	13370089	1.000000	0.71417	0.998000	0.56505	0.550000	0.35303	2.233000	0.43027	0.009000	0.14813	-0.910000	0.02820	GAG		PASS	0.587	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		9	17	9	17	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37778403	37778403	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:37778403C>T	ENST00000264741.5	+	20	2419	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	721					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F721F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGTATGAATTCAGCGTGATCT	0.433																																						uc003chd.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2161-2163)TTC>TTT		integrin, alpha 9 precursor							106.0	102.0	103.0					3																	37778403		2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37778403C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2163C>T	3.37:g.37778403C>T							p.F721F	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	20	2216	+			721			Extracellular (Potential).		Q14638	Silent	SNP	ENST00000264741.5	37	c.2163C>T	CCDS2669.1																																																																																				PASS	0.433	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		8	31	8	31	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44670938	44670938	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:44670938A>T	ENST00000396058.1	+	1	459	c.292A>T	c.(292-294)Att>Ttt	p.I98F	ZNF197_ENST00000383745.2_Missense_Mutation_p.I98F|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.I98F|ZNF197_ENST00000344387.4_Missense_Mutation_p.I98F			O14709	ZN197_HUMAN	zinc finger protein 197	98	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.I98F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GCCTGGGGAGATTCGGACCTG	0.592																																						uc003cnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(292-294)ATT>TTT		zinc finger protein 197 isoform 1							56.0	58.0	57.0					3																	44670938		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44670938A>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.292A>T	3.37:g.44670938A>T	ENSP00000379370:p.Ile98Phe					ZNF197_uc003cnn.2_Missense_Mutation_p.I98F|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.I98F	p.I98F	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	2	498	+			98			SCAN box.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.292A>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669689	0.47677	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.09	-0.15	0.13416	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.526284	0.14554	N	0.312501	T	0.13329	0.0323	L	0.54323	1.7	0.20403	N	0.999909	P;B	0.45212	0.853;0.062	P;B	0.51615	0.675;0.159	T	0.09952	-1.0651	10	0.52906	T	0.07	.	14.027	0.64592	0.3594:0.6406:0.0:0.0	.	98;98	Q86VG0;O14709	.;ZN197_HUMAN	F	98	ENSP00000373250:I98F;ENSP00000345809:I98F;ENSP00000373251:I98F;ENSP00000379370:I98F	ENSP00000334616:I98F	I	+	1	0	ZNF197	44645942	0.917000	0.31117	0.542000	0.28115	0.998000	0.95712	1.712000	0.37940	-0.119000	0.11830	0.533000	0.62120	ATT		PASS	0.592	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		23	52	23	52	---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45588986	45588986	+	Silent	SNP	G	G	T	rs550066510	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:45588986G>T	ENST00000415258.1	+	21	2817	c.2676G>T	c.(2674-2676)ccG>ccT	p.P892P	LARS2_ENST00000265537.3_Silent_p.P892P|LARS2_ENST00000414984.1_Silent_p.P849P			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	892					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.P892P(2)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TCCTTTCCCCGAGAACTGCCC	0.557																																						uc003cop.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2674-2676)CCG>CCT		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						116.0	113.0	114.0					3																	45588986		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45588986G>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2676G>T	3.37:g.45588986G>T						LARS2_uc010hit.1_Silent_p.P849P	p.P892P	NM_015340	NP_056155	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	22	2861	+			892						Silent	SNP	ENST00000415258.1	37	c.2676G>T	CCDS2728.1																																																																																				PASS	0.557	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		4	104	4	104	---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47452148	47452148	+	Nonsense_Mutation	SNP	C	C	T	rs552397269	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:47452148C>T	ENST00000265562.4	+	20	2937	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.Q828*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	954	6 X 2 AA approximate tandem repeats of P- Q.|His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.Q954*(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTGGgccccagccccagcc	0.632																																						uc003crf.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(2860-2862)CAG>TAG		protein tyrosine phosphatase, non-receptor type							16.0	17.0	16.0					3																	47452148		2198	4299	6497	SO:0001587	stop_gained	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452148C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2860C>T	3.37:g.47452148C>T	ENSP00000265562:p.Gln954*					PTPN23_uc011baw.1_Nonsense_Mutation_p.Q919*|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Nonsense_Mutation_p.Q824*	p.Q954*	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2956	+			954			6 X 2 AA approximate tandem repeats of P- Q.|1.|Pro-rich.|His.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Nonsense_Mutation	SNP	ENST00000265562.4	37	c.2860C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459584	0.96240	.	.	ENSG00000076201	ENST00000265562	.	.	.	2.56	2.56	0.30785	.	0.563936	0.16924	N	0.193972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-10.9167	8.7994	0.34898	0.0:1.0:0.0:0.0	.	.	.	.	X	954	.	ENSP00000265562:Q954X	Q	+	1	0	PTPN23	47427152	0.055000	0.20627	0.590000	0.28732	0.329000	0.28539	0.939000	0.28978	1.116000	0.41820	0.557000	0.71058	CAG		PASS	0.632	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		5	12	5	12	---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49006060	49006060	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:49006060G>T	ENST00000356401.4	+	7	971	c.632G>T	c.(631-633)aGg>aTg	p.R211M	ARIH2_ENST00000449376.1_Missense_Mutation_p.R211M|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	211					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R211M(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAGAAATACAGGCGCTACCTC	0.512																																						uc003cvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)AGG>ATG		ariadne homolog 2							166.0	162.0	163.0					3																	49006060		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49006060G>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.632G>T	3.37:g.49006060G>T	ENSP00000348769:p.Arg211Met					ARIH2_uc003cvc.2_Missense_Mutation_p.R211M|ARIH2_uc003cvf.2_Missense_Mutation_p.R129M|ARIH2_uc010hkl.2_Missense_Mutation_p.R211M	p.R211M	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	7	944	+			211			IBR-type.		Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.632G>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	36	5.712867	0.96830	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.80738	-1.41;-1.41	5.95	5.95	0.96441	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	L	0.47190	1.495	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.969	D;D;P	0.79784	0.942;0.993;0.865	D	0.85965	0.1473	10	0.46703	T	0.11	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	218;211;211	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	M	211;211;210;35	ENSP00000348769:R211M;ENSP00000403222:R211M	ENSP00000348769:R211M	R	+	2	0	ARIH2	48981064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.604000	0.82830	2.824000	0.97209	0.655000	0.94253	AGG		PASS	0.512	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		7	167	7	167	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49935084	49935084	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:49935084C>G	ENST00000296474.3	-	6	1942	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	MST1R_ENST00000344206.4_Missense_Mutation_p.E639Q|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	639	IPT/TIG 1.				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.E639Q(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)		AGTTCACACTCAAACTCCTCT	0.607																																						uc003cxy.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(1915-1917)GAG>CAG		macrophage stimulating 1 receptor precursor							62.0	58.0	59.0					3																	49935084		2203	4300	6503	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.chr3:49935084C>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.1915G>C	3.37:g.49935084C>G	ENSP00000296474:p.Glu639Gln					MST1R_uc011bdd.1_Missense_Mutation_p.E639Q|MST1R_uc011bdc.1_5'Flank	p.E639Q	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)	6	2179	-			639			IPT/TIG 1.|Extracellular (Potential).		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1915G>C	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461116	0.63513	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.76578	-1.03;-1.03	5.29	3.42	0.39159	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.214725	0.46758	N	0.000263	D	0.83857	0.5345	L	0.55481	1.735	0.25480	N	0.987743	P;D	0.69078	0.935;0.997	P;D	0.67382	0.846;0.951	T	0.77480	-0.2572	10	0.62326	D	0.03	-17.4725	14.2264	0.65863	0.0:0.7157:0.2843:0.0	.	639;639	Q04912-5;Q04912	.;RON_HUMAN	Q	639	ENSP00000296474:E639Q;ENSP00000341325:E639Q	ENSP00000296474:E639Q	E	-	1	0	MST1R	49910088	0.999000	0.42202	1.000000	0.80357	0.926000	0.56050	1.573000	0.36472	0.665000	0.31066	0.561000	0.74099	GAG		PASS	0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			12	37	12	37	---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52966255	52966255	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:52966255C>A	ENST00000394752.3	-	6	905	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	SFMBT1_ENST00000296295.6_Missense_Mutation_p.D175Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.D175Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.D175Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	175					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.D175Y(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTTAAAGAGTCCTGGAAAGCT	0.398																																						uc003dgf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(523-525)GAC>TAC		Scm-like with four mbt domains 1							108.0	105.0	106.0					3																	52966255		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52966255C>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.523G>T	3.37:g.52966255C>A	ENSP00000378235:p.Asp175Tyr					SFMBT1_uc010hmr.2_Missense_Mutation_p.D122Y|SFMBT1_uc003dgg.2_Missense_Mutation_p.D175Y|SFMBT1_uc003dgh.2_Missense_Mutation_p.D175Y	p.D175Y	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	7	1092	-			175			MBT 2.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.523G>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933622	0.92458	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.74023	0.965;0.982	T	0.69946	-0.5007	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	175;175	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	Y	175	ENSP00000378235:D175Y;ENSP00000350789:D175Y;ENSP00000296295:D175Y;ENSP00000378233:D175Y	ENSP00000296295:D175Y	D	-	1	0	SFMBT1	52941295	1.000000	0.71417	0.505000	0.27651	0.972000	0.66771	4.788000	0.62439	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.398	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		22	46	22	46	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56779335	56779335	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:56779335G>T	ENST00000296315.3	-	7	936	c.768C>A	c.(766-768)ctC>ctA	p.L256L	ARHGEF3_ENST00000413728.2_Silent_p.L262L|ARHGEF3_ENST00000497267.1_Silent_p.L227L|ARHGEF3_ENST00000338458.4_Silent_p.L288L|ARHGEF3_ENST00000496106.1_Silent_p.L262L|ARHGEF3_ENST00000495373.1_Silent_p.L256L	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	256	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L256L(2)|p.L288L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTGGAATATCGAGGAAATTCC	0.468																																						uc003dig.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(766-768)CTC>CTA		Rho guanine nucleotide exchange factor 3 isoform							168.0	183.0	178.0					3																	56779335		2203	4300	6503	SO:0001819	synonymous_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779335G>T	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.768C>A	3.37:g.56779335G>T						ARHGEF3_uc011bew.1_Silent_p.L256L|ARHGEF3_uc003dih.2_Silent_p.L288L|ARHGEF3_uc011bev.1_Silent_p.L227L|ARHGEF3_uc003dif.2_Silent_p.L262L|ARHGEF3_uc010hmy.1_Silent_p.L54L|ARHGEF3_uc003dii.2_Silent_p.L256L	p.L256L	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	937	-			256			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	c.768C>A	CCDS2878.1																																																																																				PASS	0.468	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		5	218	5	218	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62216897	62216897	+	Splice_Site	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:62216897A>G	ENST00000474889.1	+	14	2665		c.e14-1		PTPRG_ENST00000295874.10_Intron	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTGTCCATTTAGAGGGTGTAA	0.473																																						uc003dlb.2																			1	Unknown(1)		lung(1)	ovary(5)|lung(2)	7						c.e14-2		protein tyrosine phosphatase, receptor type, G							84.0	88.0	87.0					3																	62216897		2203	4300	6503	SO:0001630	splice_region_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62216897A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2289-1A>G	3.37:g.62216897A>G						PTPRG_uc003dlc.2_Intron|PTPRG_uc011bfi.1_Intron	p.R763_splice	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	14	3008	+								B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Splice_Site	SNP	ENST00000474889.1	37	c.2289_splice	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883376	0.72410	.	.	ENSG00000144724	ENST00000474889	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0609	0.64800	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRG	62191937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.141000	0.64814	2.326000	0.78906	0.533000	0.62120	.		PASS	0.473	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	Intron	4	21	4	21	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64085478	64085478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:64085478G>T	ENST00000295902.6	-	8	2369	c.1784C>A	c.(1783-1785)tCg>tAg	p.S595*	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.S651*|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	595					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S595*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTGCATGGACGAGTTAAGAGT	0.552																																						uc003dmf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1783-1785)TCG>TAG		prickle-like 2							138.0	137.0	137.0					3																	64085478		2203	4300	6503	SO:0001587	stop_gained	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085478G>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1784C>A	3.37:g.64085478G>T	ENSP00000295902:p.Ser595*						p.S595*	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2370	-		Lung NSC(201;0.136)	595					Q0VF44	Nonsense_Mutation	SNP	ENST00000295902.6	37	c.1784C>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	45	11.616831	0.99583	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8765	19.6573	0.95847	0.0:0.0:1.0:0.0	.	.	.	.	X	595	.	ENSP00000295902:S595X	S	-	2	0	PRICKLE2	64060518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.929000	0.87595	2.655000	0.90218	0.591000	0.81541	TCG		PASS	0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	144	5	144	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66430866	66430866	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:66430866C>T	ENST00000273261.3	-	19	3627	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.E1012K	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1035					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E1035K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGCTGTAGCTCTGTGGAGTCC	0.532																																						uc003dmx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3103-3105)GAG>AAG		leucine-rich repeats and immunoglobulin-like							110.0	114.0	113.0					3																	66430866		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66430866C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3103G>A	3.37:g.66430866C>T	ENSP00000273261:p.Glu1035Lys					SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.E655K|LRIG1_uc003dmw.2_Missense_Mutation_p.E701K|LRIG1_uc010hnz.2_Missense_Mutation_p.E751K|LRIG1_uc010hoa.2_Missense_Mutation_p.E1012K	p.E1035K	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3117	-		Lung NSC(201;0.0101)	1035			Cytoplasmic (Potential).		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.3103G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538750	0.27475	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.64618	-0.11;-0.08	5.44	3.64	0.41730	.	0.369043	0.23189	N	0.050935	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	B;B;B	0.23990	0.095;0.001;0.001	B;B;B	0.21917	0.037;0.001;0.0	T	0.24941	-1.0146	10	0.06494	T	0.89	.	5.4604	0.16614	0.0:0.6765:0.0:0.3235	.	1012;1035;1035	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	K	1035;1012;938	ENSP00000273261:E1035K;ENSP00000373208:E1012K	ENSP00000273261:E1035K	E	-	1	0	LRIG1	66513556	0.005000	0.15991	0.008000	0.14137	0.006000	0.05464	1.526000	0.35964	1.290000	0.44636	0.655000	0.94253	GAG		PASS	0.532	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		50	102	50	102	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71015079	71015079	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:71015079C>T	ENST00000318789.4	-	20	2376	c.1851G>A	c.(1849-1851)gaG>gaA	p.E617E	FOXP1_ENST00000493089.1_Silent_p.E616E|FOXP1_ENST00000491238.1_Silent_p.E619E|FOXP1_ENST00000484350.1_Silent_p.E541E|FOXP1_ENST00000475937.1_Silent_p.E617E|FOXP1_ENST00000498215.1_Silent_p.E617E|FOXP1_ENST00000468577.1_Silent_p.E553E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	617					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E617E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGTCACTCTCGTTGCTGT	0.532			T	PAX5	ALL																																	uc003dol.2				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1849-1851)GAG>GAA		forkhead box P1 isoform 1							318.0	261.0	280.0					3																	71015079		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71015079C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1851G>A	3.37:g.71015079C>T						FOXP1_uc003dom.2_Silent_p.E541E|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.E616E|FOXP1_uc003dop.2_Silent_p.E617E|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.E517E|FOXP1_uc003doj.2_Silent_p.E517E|FOXP1_uc003dok.2_Silent_p.E430E	p.E617E	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	16	2174	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	617					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1851G>A	CCDS2914.1																																																																																				PASS	0.532	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		40	89	40	89	---	---	---	---
ARL6	84100	broad.mit.edu	37	3	97506911	97506911	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:97506911G>T	ENST00000463745.1	+	6	904	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	ARL6_ENST00000394206.1_Missense_Mutation_p.V143L|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.V143L	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	143					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)	p.V143L(1)		large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATCTGTAAAAGTGTCTCAGTT	0.303																																						uc003drv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GTG>TTG		ADP-ribosylation factor-like 6							92.0	93.0	93.0					3																	97506911		2203	4298	6501	SO:0001583	missense	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97506911G>T	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.427G>T	3.37:g.97506911G>T	ENSP00000419619:p.Val143Leu					ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.V143L|ARL6_uc010hoy.2_Missense_Mutation_p.V143L	p.V143L	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	7	740	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	143					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.427G>T	CCDS2928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.31|17.31	3.358082|3.358082	0.61403|0.61403	.|.	.|.	ENSG00000113966|ENSG00000113966	ENST00000476753|ENST00000463745;ENST00000335979;ENST00000394206	T|T;T;T	0.63744|0.62232	-0.06|0.04;0.04;0.04	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Small GTP-binding protein domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45135|0.45135	0.1327|0.1327	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	.|P	.|0.38922	.|0.651	.|B	.|0.33042	.|0.157	T|T	0.47355|0.47355	-0.9124|-0.9124	7|10	0.87932|0.37606	D|T	0|0.19	.|.	17.5189|17.5189	0.87782|0.87782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143	.|Q9H0F7	.|ARL6_HUMAN	N|L	37|143	ENSP00000419934:K37N|ENSP00000419619:V143L;ENSP00000337722:V143L;ENSP00000377756:V143L	ENSP00000419934:K37N|ENSP00000337722:V143L	K|V	+|+	3|1	2|0	ARL6|ARL6	98989601|98989601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.420000|9.420000	0.97426|0.97426	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	AAG|GTG		PASS	0.303	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		23	33	23	33	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887902	97887902	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:97887902A>T	ENST00000356526.2	+	1	359	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y120F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACAATGGCATATGATCGCTAT	0.378																																						uc011bgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(358-360)TAT>TTT		olfactory receptor, family 5, subfamily H,							85.0	86.0	85.0					3																	97887902		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887902A>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.359A>T	3.37:g.97887902A>T	ENSP00000373195:p.Tyr120Phe						p.Y120F	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	359	+			120			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.359A>T	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	6.745	0.506354	0.12883	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.01313	5.02	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.02156	0.0067	M	0.66378	2.025	0.20703	N	0.999863	B	0.31859	0.343	B	0.30782	0.12	T	0.34850	-0.9812	10	0.62326	D	0.03	.	8.4982	0.33141	1.0:0.0:0.0:0.0	.	120	A6NDH6	O5H15_HUMAN	F	120	ENSP00000373195:Y120F	ENSP00000373195:Y120F	Y	+	2	0	OR5H15	99370592	1.000000	0.71417	0.988000	0.46212	0.119000	0.20118	2.521000	0.45563	1.138000	0.42230	0.155000	0.16302	TAT		PASS	0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			22	99	22	99	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100170718	100170718	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:100170718C>A	ENST00000383693.3	+	3	1592	c.312C>A	c.(310-312)tcC>tcA	p.S104S	LNP1_ENST00000489752.1_Silent_p.S117S	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	104								p.S104S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						AAGGAAGATCCCATTCCAAAA	0.428																																						uc003dtx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)TCC>TCA		leukemia NUP98 fusion partner 1							105.0	98.0	100.0					3																	100170718		1841	4087	5928	SO:0001819	synonymous_variant	348801							g.chr3:100170718C>A		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.312C>A	3.37:g.100170718C>A						LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	p.S104S	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN			3	1592	+			104					B7ZLT3	Silent	SNP	ENST00000383693.3	37	c.312C>A	CCDS43120.1																																																																																				PASS	0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			6	122	6	122	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109047782	109047782	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:109047782G>T	ENST00000335658.6	-	6	887	c.833C>A	c.(832-834)cCc>cAc	p.P278H	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	278					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P278H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AAGGTGCGGGGGTGGAAAATT	0.473																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(832-834)CCC>CAC		developmental pluripotency associated 4							61.0	54.0	56.0					3																	109047782		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109047782G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.833C>A	3.37:g.109047782G>T	ENSP00000335306:p.Pro278His					DPPA4_uc011bho.1_Silent_p.T179T	p.P278H	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			6	888	-			278					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.833C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171224	0.57584	.	.	ENSG00000121570	ENST00000335658	T	0.30448	1.53	4.91	4.01	0.46588	.	0.000000	0.56097	D	0.000038	T	0.51805	0.1696	M	0.71581	2.175	0.33915	D	0.640143	D	0.89917	1.0	D	0.97110	1.0	T	0.66952	-0.5793	10	0.87932	D	0	-27.9309	10.6058	0.45394	0.0:0.0:0.8083:0.1917	.	278	Q7L190	DPPA4_HUMAN	H	278	ENSP00000335306:P278H	ENSP00000335306:P278H	P	-	2	0	DPPA4	110530472	1.000000	0.71417	0.952000	0.39060	0.782000	0.44232	3.959000	0.56744	1.383000	0.46405	0.467000	0.42956	CCC		PASS	0.473	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		18	25	18	25	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113122773	113122773	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:113122773G>A	ENST00000295868.2	-	9	1258	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	WDR52_ENST00000393845.2_Missense_Mutation_p.H366Y|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2												p.H366Y(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGACCATTGTGACATGACTTG	0.478																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1096-1098)CAC>TAC		WD repeat domain 52 isoform 2							273.0	238.0	250.0					3																	113122773		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113122773G>A																												ENST00000295868.2:c.1096C>T	3.37:g.113122773G>A	ENSP00000295868:p.His366Tyr						p.H366Y	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			9	1142	-			366			WD 4.			Missense_Mutation	SNP	ENST00000295868.2	37	c.1096C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093224	0.76756	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.09723	4.53;2.95	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.40015	0.1100	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.45600	-0.9250	9	0.87932	D	0	.	18.4056	0.90535	0.0:0.0:1.0:0.0	.	366	Q96MT7	WDR52_HUMAN	Y	366	ENSP00000377428:H366Y;ENSP00000295868:H366Y	ENSP00000295868:H366Y	H	-	1	0	WDR52	114605463	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	8.822000	0.92013	2.652000	0.90054	0.561000	0.74099	CAC		PASS	0.478	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			38	158	38	158	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119134028	119134028	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:119134028C>T	ENST00000264245.4	+	12	3784	c.3252C>T	c.(3250-3252)caC>caT	p.H1084H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1084					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.H1084H(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGGAGAGCACCCCGCAAAGT	0.572																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3250-3252)CAC>CAT		Cdc42 GTPase-activating protein							154.0	165.0	161.0					3																	119134028		2091	4215	6306	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134028C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3252C>T	3.37:g.119134028C>T							p.H1084H	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3784	+			1084					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.3252C>T	CCDS43135.1																																																																																				PASS	0.572	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			7	230	7	230	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124397067	124397067	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:124397067G>T	ENST00000462213.1	+	2	299	c.75G>T	c.(73-75)atG>atT	p.M25I	KALRN_ENST00000291478.5_Missense_Mutation_p.M711I|KALRN_ENST00000428018.2_Missense_Mutation_p.M679I|KALRN_ENST00000360013.3_Missense_Mutation_p.M2408I			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2407					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M2408I(1)|p.M711I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCTACGCATGAGAAAGCGGG	0.493																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7222-7224)ATG>ATT		kalirin, RhoGEF kinase isoform 1							147.0	143.0	145.0					3																	124397067		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124397067G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.75G>T	3.37:g.124397067G>T	ENSP00000418790:p.Met25Ile					KALRN_uc003ehk.2_Missense_Mutation_p.M711I	p.M2408I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			50	7351	+			2407					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7224G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.277441|2.277441	0.40294|0.40294	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213|ENST00000354186	T;T;T;T|.	0.58797|.	0.31;0.56;0.56;0.56|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.106900|.	0.64402|.	D|.	0.000003|.	T|.	0.36220|.	0.0959|.	N|N	0.04880|0.04880	-0.145|-0.145	0.33233|0.33233	D|D	0.556129|0.556129	B;B|.	0.12013|.	0.005;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|.	0.38824|.	-0.9643|.	10|.	0.23891|.	T|.	0.37|.	.|.	19.5916|19.5916	0.95514|0.95514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	711;2407|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	I|L	2408;711;679;25|2377	ENSP00000353109:M2408I;ENSP00000291478:M711I;ENSP00000402419:M679I;ENSP00000418790:M25I|.	ENSP00000291478:M711I|.	M|X	+|+	3|2	0|2	KALRN|KALRN	125879757|125879757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.071000|4.071000	0.57556|0.57556	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	ATG|TGA		PASS	0.493	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		6	153	6	153	---	---	---	---
CCDC37	348807	broad.mit.edu	37	3	126132997	126132997	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:126132997A>G	ENST00000352312.1	+	4	299	c.200A>G	c.(199-201)gAt>gGt	p.D67G	CCDC37_ENST00000393425.1_Missense_Mutation_p.D67G|CCDC37_ENST00000510833.1_Missense_Mutation_p.D67G|CCDC37_ENST00000505024.1_Missense_Mutation_p.D67G	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	67								p.D67G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCTCAGAGATCAGGAGCGG	0.562																																						uc003eiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(199-201)GAT>GGT		coiled-coil domain containing 37							221.0	220.0	221.0					3																	126132997		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126132997A>G	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.200A>G	3.37:g.126132997A>G	ENSP00000344749:p.Asp67Gly					CCDC37_uc010hsg.1_Missense_Mutation_p.D67G	p.D67G	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	4	299	+			67					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.200A>G	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789630	0.70337	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000510833;ENST00000505024	T;T;T	0.34072	1.39;1.38;1.38	4.6	4.6	0.57074	.	0.315746	0.26673	N	0.023086	T	0.39655	0.1086	L	0.48642	1.525	0.34732	D	0.729851	P;P	0.48162	0.906;0.849	P;B	0.49192	0.602;0.398	T	0.56805	-0.7918	10	0.66056	D	0.02	-10.7053	10.9396	0.47266	1.0:0.0:0.0:0.0	.	67;67	Q494V2-2;Q494V2	.;CCD37_HUMAN	G	67	ENSP00000344749:D67G;ENSP00000377076:D67G;ENSP00000423046:D67G	ENSP00000344749:D67G	D	+	2	0	CCDC37	127615687	0.994000	0.37717	0.907000	0.35723	0.846000	0.48090	4.163000	0.58183	2.024000	0.59613	0.477000	0.44152	GAT		PASS	0.562	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		91	161	91	161	---	---	---	---
ISY1	57461	broad.mit.edu	37	3	128852967	128852967	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:128852967C>T	ENST00000393295.3	-	9	930	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.E205K|ISY1_ENST00000273541.8_Missense_Mutation_p.E227K|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Missense_Mutation_p.G206E	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	205	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.E205K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						tcttcctcctcctcttcctTT	0.527																																						uc003elo.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(613-615)GAG>AAG		ISY1 splicing factor homolog							117.0	119.0	118.0					3																	128852967		2020	4188	6208	SO:0001583	missense	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128852967C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.613G>A	3.37:g.128852967C>T	ENSP00000376973:p.Glu205Lys					ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.E205K|ISY1_uc010hta.1_Missense_Mutation_p.E227K	p.E205K	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			9	824	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.613G>A	CCDS43149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.33|17.33	3.362161|3.362161	0.61403|0.61403	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000393292	T|.	0.30182|.	1.54|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.119366|.	0.32218|.	N|.	0.006414|.	T|T	0.21921|0.21921	0.0528|0.0528	N|N	0.04746|0.04746	-0.17|-0.17	0.30073|0.30073	N|N	0.80984|0.80984	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.08055|.	0.003;0.001;0.003|.	T|T	0.03750|0.03750	-1.1007|-1.1007	10|6	0.10111|0.02654	T|T	0.7|1	.|.	15.1929|15.1929	0.73060|0.73060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	227;205;205|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	K|E	205;205;227|206	ENSP00000273541:E227K|.	ENSP00000273541:E227K|ENSP00000376970:G206E	E|G	-|-	1|2	0|0	ISY1|ISY1	130335657|130335657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.178000|4.178000	0.58284|0.58284	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GAG|GGA		PASS	0.527	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		21	66	21	66	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150876568	150876568	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:150876568G>T	ENST00000474524.1	+	6	857	c.819G>T	c.(817-819)ttG>ttT	p.L273F	MED12L_ENST00000309237.4_Missense_Mutation_p.L273F|MED12L_ENST00000422248.2_Missense_Mutation_p.L273F|MED12L_ENST00000273432.4_Missense_Mutation_p.L273F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	273						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L273F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAAACTCTTGCTACCACTAA	0.388																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(817-819)TTG>TTT		mediator of RNA polymerase II transcription,							86.0	78.0	81.0					3																	150876568		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150876568G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.819G>T	3.37:g.150876568G>T	ENSP00000417235:p.Leu273Phe					MED12L_uc011bnz.1_Missense_Mutation_p.L273F|MED12L_uc003eym.1_Missense_Mutation_p.L273F|MED12L_uc003eyn.2_Missense_Mutation_p.L273F|MED12L_uc003eyo.2_Missense_Mutation_p.L273F	p.L273F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	857	+			273					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.819G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732430	0.30684	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.66815	0.34;0.32;0.23;-0.23	5.07	0.957	0.19613	.	0.088745	0.45126	D	0.000386	T	0.60011	0.2236	L	0.41573	1.285	0.09310	N	1	P;P;P;P	0.49783	0.835;0.839;0.9;0.928	P;P;P;P	0.53102	0.628;0.526;0.718;0.626	T	0.53394	-0.8445	10	0.87932	D	0	-11.9725	1.865	0.03196	0.3159:0.1236:0.4273:0.1332	.	273;273;273;273	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	F	273	ENSP00000403308:L273F;ENSP00000310760:L273F;ENSP00000417235:L273F;ENSP00000273432:L273F	ENSP00000273432:L273F	L	+	3	2	MED12L	152359258	0.048000	0.20356	0.038000	0.18304	0.965000	0.64279	0.100000	0.15231	0.196000	0.20367	0.467000	0.42956	TTG		PASS	0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		18	34	18	34	---	---	---	---
SI	6476	broad.mit.edu	37	3	164773014	164773014	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:164773014G>T	ENST00000264382.3	-	13	1542	c.1480C>A	c.(1480-1482)Cat>Aat	p.H494N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	494	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.H494N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACTTCTTGATGGAAAATACTG	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1480-1482)CAT>AAT		sucrase-isomaltase	Acarbose(DB00284)						125.0	119.0	121.0					3																	164773014		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164773014G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1480C>A	3.37:g.164773014G>T	ENSP00000264382:p.His494Asn	HNSCC(35;0.089)					p.H494N	NM_001041	NP_001032	P14410	SUIS_HUMAN			13	1542	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	494			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1480C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303348	0.10678	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.13	1.38	0.22167	Glycoside hydrolase, superfamily (1);	0.382752	0.30126	N	0.010358	D	0.91192	0.7225	M	0.85630	2.765	0.23506	N	0.997531	B	0.12630	0.006	B	0.23574	0.047	D	0.84217	0.0459	10	0.62326	D	0.03	.	8.2578	0.31766	0.52:0.0:0.48:0.0	.	494	P14410	SUIS_HUMAN	N	494	ENSP00000264382:H494N	ENSP00000264382:H494N	H	-	1	0	SI	166255708	0.995000	0.38212	0.122000	0.21767	0.111000	0.19643	0.555000	0.23422	-0.030000	0.13804	-0.225000	0.12378	CAT		PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		22	73	22	73	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172163133	172163133	+	Missense_Mutation	SNP	C	C	T	rs200570638		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:172163133C>T	ENST00000241256.2	-	2	961	c.919G>A	c.(919-921)Gtg>Atg	p.V307M		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	307					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.V307M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACAAAGGACACGAGGTTGCAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		13282	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(919-921)GTG>ATG		growth hormone secretagogue receptor isoform 1a							114.0	111.0	112.0					3																	172163133		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172163133C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.919G>A	3.37:g.172163133C>T	ENSP00000241256:p.Val307Met						p.V307M	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		2	919	-	Ovarian(172;0.00143)|Breast(254;0.197)		307			Helical; Name=7; (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.919G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847434	0.71603	.	.	ENSG00000121853	ENST00000241256	T	0.40756	1.02	5.38	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.200734	0.43260	D	0.000582	T	0.64125	0.2570	M	0.79011	2.435	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.68550	-0.5379	10	0.72032	D	0.01	-21.2605	16.7451	0.85470	0.1375:0.8625:0.0:0.0	.	307	Q92847	GHSR_HUMAN	M	307	ENSP00000241256:V307M	ENSP00000241256:V307M	V	-	1	0	GHSR	173645827	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	2.976000	0.49289	2.791000	0.96007	0.650000	0.86243	GTG		PASS	0.507	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		27	93	27	93	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183476656	183476656	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:183476656C>A	ENST00000305135.5	+	13	1754	c.1559C>A	c.(1558-1560)cCt>cAt	p.P520H		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	520					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.P520H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAGGAAGTCCTACAAACAAG	0.383																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1558-1560)CCT>CAT		YEATS domain containing 2							135.0	122.0	126.0					3																	183476656		1832	4080	5912	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183476656C>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1559C>A	3.37:g.183476656C>A	ENSP00000306983:p.Pro520His						p.P520H	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	1754	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		520					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1559C>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339362	0.81911	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30981	1.51	5.22	5.22	0.72569	.	0.073825	0.56097	D	0.000036	T	0.38825	0.1055	L	0.27053	0.805	0.53005	D	0.999968	D	0.69078	0.997	P	0.55667	0.781	T	0.32025	-0.9922	10	0.87932	D	0	-17.9355	18.812	0.92061	0.0:1.0:0.0:0.0	.	520	Q9ULM3	YETS2_HUMAN	H	520	ENSP00000306983:P520H	ENSP00000306983:P520H	P	+	2	0	YEATS2	184959350	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.278000	0.72614	2.449000	0.82847	0.585000	0.79938	CCT		PASS	0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		6	137	6	137	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183776363	183776363	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:183776363G>C	ENST00000318351.1	+	6	742	c.708G>C	c.(706-708)caG>caC	p.Q236H		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	236					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.Q236H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TATATGACCAGATCATGTTTT	0.502																																						uc003fmk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(706-708)CAG>CAC		5-hydroxytryptamine receptor 3 subunit C							106.0	104.0	105.0					3																	183776363		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183776363G>C	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.708G>C	3.37:g.183776363G>C	ENSP00000322617:p.Gln236His						p.Q236H	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	742	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		236			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.708G>C	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.975628	0.34848	.	.	ENSG00000178084	ENST00000318351	T	0.79454	-1.27	4.98	4.1	0.47936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.389678	0.26210	N	0.025699	D	0.87641	0.6228	M	0.88377	2.95	0.23568	N	0.997393	D	0.76494	0.999	D	0.74674	0.984	T	0.79315	-0.1854	10	0.62326	D	0.03	-7.6862	8.3455	0.32270	0.1079:0.0:0.8921:0.0	.	236	Q8WXA8	5HT3C_HUMAN	H	236	ENSP00000322617:Q236H	ENSP00000322617:Q236H	Q	+	3	2	HTR3C	185259057	0.992000	0.36948	0.881000	0.34555	0.714000	0.41099	0.815000	0.27253	1.292000	0.44672	0.563000	0.77884	CAG		PASS	0.502	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		27	76	27	76	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193207607	193207607	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr3:193207607C>A	ENST00000342695.4	-	7	972	c.650G>T	c.(649-651)tGg>tTg	p.W217L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.W217L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.W217L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	217						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.W217L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCACTAAACCACAAACAGAC	0.353																																						uc003ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(649-651)TGG>TTG		ATPase type 13A4							101.0	104.0	103.0					3																	193207607		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207607C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.650G>T	3.37:g.193207607C>A	ENSP00000339182:p.Trp217Leu					ATP13A4_uc003fte.1_Missense_Mutation_p.W217L|ATP13A4_uc011bsr.1_5'UTR	p.W217L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	7	758	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		217			Helical; (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.650G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422666	0.83559	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.87179	-2.22;-2.22;-2.22	5.51	5.51	0.81932	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000014	D	0.95736	0.8613	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96605	0.9448	10	0.87932	D	0	-12.7433	18.3668	0.90394	0.0:1.0:0.0:0.0	.	217;217	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	L	217	ENSP00000376238:W217L;ENSP00000339182:W217L;ENSP00000295548:W217L	ENSP00000295548:W217L	W	-	2	0	ATP13A4	194690301	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.180000	0.71981	2.766000	0.95052	0.573000	0.79308	TGG		PASS	0.353	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		5	117	5	117	---	---	---	---
HAUS3	79441	broad.mit.edu	37	4	2241768	2241768	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:2241768G>A	ENST00000243706.4	-	2	1135	c.906C>T	c.(904-906)agC>agT	p.S302S	HAUS3_ENST00000506763.1_Silent_p.S302S|HAUS3_ENST00000443786.2_Silent_p.S302S|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	302					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.S302S(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGCTTACCTTGCTGGTTAGGC	0.353																																						uc003ges.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|breast(2)	4						c.(904-906)AGC>AGT		HAUS augmin-like complex, subunit 3							85.0	75.0	78.0					4																	2241768		2203	4300	6503	SO:0001819	synonymous_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2241768G>A	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.906C>T	4.37:g.2241768G>A						POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Silent_p.S302S|HAUS3_uc003get.1_Silent_p.S302S	p.S302S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			2	1136	-			302					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Silent	SNP	ENST00000243706.4	37	c.906C>T	CCDS33941.1																																																																																				PASS	0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		19	43	19	43	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2673998	2673998	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:2673998C>A	ENST00000324666.5	+	11	1708	c.1357C>A	c.(1357-1359)Cct>Act	p.P453T	FAM193A_ENST00000505311.1_Missense_Mutation_p.P453T|FAM193A_ENST00000382839.3_Missense_Mutation_p.P453T|FAM193A_ENST00000502458.1_Missense_Mutation_p.P475T|FAM193A_ENST00000545951.1_Missense_Mutation_p.P453T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	453								p.P453T(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCACCTTTACCCTCACATCCA	0.567																																						uc010icl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1357-1359)CCT>ACT		hypothetical protein LOC8603							163.0	117.0	133.0					4																	2673998		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2673998C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1357C>A	4.37:g.2673998C>A	ENSP00000324587:p.Pro453Thr					FAM193A_uc010ick.2_Missense_Mutation_p.P653T|FAM193A_uc003gfd.2_Missense_Mutation_p.P453T|FAM193A_uc011bvm.1_Missense_Mutation_p.P475T|FAM193A_uc011bvn.1_Missense_Mutation_p.P453T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P307T	p.P453T	NM_003704	NP_003695	P78312	F193A_HUMAN			11	1708	+			453					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1357C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673321	0.88445	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.56769	1.78	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.50423	-0.8830	10	0.87932	D	0	-23.4402	17.6569	0.88180	0.0:1.0:0.0:0.0	.	453;475;453;475;453	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	T	453;453;453;475;307	ENSP00000372290:P453T;ENSP00000324587:P453T;ENSP00000443617:P453T;ENSP00000427505:P475T;ENSP00000427260:P307T	ENSP00000324587:P453T	P	+	1	0	FAM193A	2643796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.860000	0.75473	2.474000	0.83562	0.650000	0.86243	CCT		PASS	0.567	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		6	53	6	53	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5448438	5448438	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:5448438G>A	ENST00000282908.5	+	7	1023	c.601G>A	c.(601-603)Gga>Aga	p.G201R	STK32B_ENST00000512636.1_Missense_Mutation_p.G124R|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G154R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.G201R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAGGCCCCGGATACTCGTA	0.577																																						uc003gih.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(601-603)GGA>AGA		serine/threonine kinase 32B							88.0	80.0	83.0					4																	5448438		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5448438G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.601G>A	4.37:g.5448438G>A	ENSP00000282908:p.Gly201Arg					STK32B_uc010ida.1_Missense_Mutation_p.G154R	p.G201R	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			7	665	+			201			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.601G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192624	0.78902	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.66280	-0.2;-0.2;-0.2	5.39	5.39	0.77823	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	0.43747	U	0.000524	T	0.74427	0.3715	L	0.48218	1.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.76589	-0.2904	10	0.87932	D	0	.	16.6579	0.85233	0.0:0.0:1.0:0.0	.	201	Q9NY57	ST32B_HUMAN	R	201;124;154	ENSP00000282908:G201R;ENSP00000423209:G124R;ENSP00000420984:G154R	ENSP00000282908:G201R	G	+	1	0	STK32B	5499339	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	5.332000	0.65911	2.523000	0.85059	0.561000	0.74099	GGA		PASS	0.577	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		16	41	16	41	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	20751284	20751284	+	Splice_Site	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:20751284C>T	ENST00000382152.2	-	5	597		c.e5+1		KCNIP4_ENST00000382150.4_Splice_Site|KCNIP4_ENST00000359001.5_Splice_Site|KCNIP4_ENST00000447367.2_Splice_Site|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_Splice_Site|KCNIP4_ENST00000509207.1_Splice_Site|KCNIP4_ENST00000382148.3_Splice_Site	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.?(4)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CCAGAGCTTACCTCGAAACTC	0.353																																						uc003gqe.2																			4	Unknown(4)		lung(4)		0						c.e4+1		Kv channel interacting protein 4 isoform 3							104.0	95.0	98.0					4																	20751284		2203	4300	6503	SO:0001630	splice_region_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751284C>T	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.429+1G>A	4.37:g.20751284C>T						KCNIP4_uc003gqf.1_Splice_Site_p.E122_splice|KCNIP4_uc003gqg.1_Splice_Site_p.E81_splice|KCNIP4_uc003gqh.1_Splice_Site_p.E118_splice|KCNIP4_uc003gqi.1_Splice_Site_p.E81_splice|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Splice_Site_p.E123_splice|KCNIP4_uc003gqd.3_Splice_Site_p.E106_splice	p.E126_splice	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN			4	462	-		Breast(46;0.134)						Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Splice_Site	SNP	ENST00000382152.2	37	c.378_splice	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477635	0.44044	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3716	0.90408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNIP4	20360382	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	7.450000	0.80656	2.623000	0.88846	0.585000	0.79938	.		PASS	0.353	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221	Intron	5	18	5	18	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22449131	22449131	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:22449131G>C	ENST00000334304.5	-	5	746	c.477C>G	c.(475-477)aaC>aaG	p.N159K	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.N159K	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	159					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.N159K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCCCGAAAGGTTTCTGAAAG	0.264																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(475-477)AAC>AAG		G protein-coupled receptor 125 precursor							40.0	44.0	43.0					4																	22449131		2203	4290	6493	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22449131G>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.477C>G	4.37:g.22449131G>C	ENSP00000334952:p.Asn159Lys					GPR125_uc010ieo.1_Missense_Mutation_p.N33K|GPR125_uc003gqo.2_Missense_Mutation_p.N159K	p.N159K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			5	742	-		Breast(46;0.198)	159			Extracellular (Potential).|LRR 4.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.477C>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365996	0.61513	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90844	-2.74;-2.74	5.91	2.93	0.34026	.	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	L	0.46885	1.475	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.953	D;D;P	0.78314	0.991;0.969;0.852	D	0.89262	0.3598	10	0.66056	D	0.02	-37.4263	6.5281	0.22312	0.7238:0.0:0.2762:0.0	.	34;159;159	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	K	159	ENSP00000334952:N159K;ENSP00000421006:N159K	ENSP00000334952:N159K	N	-	3	2	GPR125	22058229	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.162000	0.42367	0.331000	0.23511	0.585000	0.79938	AAC		PASS	0.264	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	33	9	33	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724912	30724912	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:30724912C>G	ENST00000361762.2	+	1	2876	c.1868C>G	c.(1867-1869)aCt>aGt	p.T623S	PCDH7_ENST00000543491.1_Missense_Mutation_p.T623S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	623	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T576S(1)|p.T623S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGGGCAGCACTACGGTGATT	0.488																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1867-1869)ACT>AGT		protocadherin 7 isoform a precursor							93.0	98.0	96.0					4																	30724912		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724912C>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1868C>G	4.37:g.30724912C>G	ENSP00000355243:p.Thr623Ser					PCDH7_uc011bxw.1_Missense_Mutation_p.T576S|PCDH7_uc011bxx.1_Missense_Mutation_p.T623S	p.T623S	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2876	+			623			Cadherin 5.|Extracellular (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1868C>G	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.983810|2.983810	0.53827|0.53827	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.56103	.|0.48;0.48	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.50257|0.50257	0.1605|0.1605	L|L	0.37507|0.37507	1.11|1.11	0.52099|0.52099	D|D	0.999943|0.999943	.|B;B;B	.|0.32382	.|0.2;0.317;0.368	.|B;B;B	.|0.36186	.|0.139;0.139;0.219	T|T	0.53173|0.53173	-0.8476|-0.8476	5|9	.|0.72032	.|D	.|0.01	.|.	19.2966|19.2966	0.94124|0.94124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|623;576;623	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	Q|S	312|623;623;576	.|ENSP00000355243:T623S;ENSP00000441802:T623S	.|ENSP00000330302:T576S	H|T	+|+	3|2	2|0	PCDH7|PCDH7	30334010|30334010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAC|ACT		PASS	0.488	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		18	48	18	48	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47597740	47597740	+	Nonstop_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:47597740A>T	ENST00000273857.4	-	22	3126	c.3127T>A	c.(3127-3129)Taa>Aaa	p.*1043K	CORIN_ENST00000508498.1_Nonstop_Mutation_p.*904K|CORIN_ENST00000502252.1_Nonstop_Mutation_p.*976K|CORIN_ENST00000505909.1_Nonstop_Mutation_p.*1006K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	0					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.*1043K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCTTATAATTAGTTTAGGAGA	0.413																																						uc003gxm.2																			1	Nonstop extension(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3127-3129)TAA>AAA		corin							75.0	83.0	80.0					4																	47597740		2203	4300	6503	SO:0001578	stop_lost	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47597740A>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.3127T>A	4.37:g.47597740A>T						CORIN_uc011bzf.1_Nonstop_Mutation_p.*904K|CORIN_uc011bzg.1_Nonstop_Mutation_p.*976K	p.*1043K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			22	3220	-			1043					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Nonstop_Mutation	SNP	ENST00000273857.4	37	c.3127T>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722508	0.30503	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	.	.	.	5.46	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6665	0.39988	0.7503:0.0:0.0:0.2497	.	.	.	.	K	1043;904;976;1006	.	.	X	-	1	0	CORIN	47292497	1.000000	0.71417	0.007000	0.13788	0.008000	0.06430	3.669000	0.54561	0.320000	0.23234	0.379000	0.24179	TAA		PASS	0.413	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	55	15	55	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55970835	55970835	+	Nonsense_Mutation	SNP	G	G	T	rs544591377		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:55970835G>T	ENST00000263923.4	-	13	2257	c.1962C>A	c.(1960-1962)tgC>tgA	p.C654*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	654	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.C654*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCTGACCACGCAATGTCTTT	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Nonsense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1960-1962)TGC>TGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						95.0	76.0	83.0					4																	55970835		2203	4300	6503	SO:0001587	stop_gained	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55970835G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1962C>A	4.37:g.55970835G>T	ENSP00000263923:p.Cys654*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.C654*|KDR_uc011bzx.1_Nonsense_Mutation_p.C654*	p.C654*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2264	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		654			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.1962C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	37	6.625404	0.97714	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.99	-0.165	0.13355	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4525	0.50160	0.5251:0.0:0.4749:0.0	.	.	.	.	X	654	.	ENSP00000263923:C654X	C	-	3	2	KDR	55665592	0.263000	0.24083	0.949000	0.38748	0.548000	0.35241	-0.101000	0.10973	-0.235000	0.09767	-0.345000	0.07892	TGC		PASS	0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	8	5	8	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56308750	56308750	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:56308750G>C	ENST00000309964.4	-	20	2204	c.1954C>G	c.(1954-1956)Cag>Gag	p.Q652E	CLOCK_ENST00000513440.1_Missense_Mutation_p.Q652E|CLOCK_ENST00000381322.1_Missense_Mutation_p.Q652E	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	652	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q652K(1)|p.Q652E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTCTGTGTCTGACTGGGTAGA	0.403																																						uc003haz.1																			2	Substitution - Missense(2)	p.Q652K(1)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|ovary(1)	3						c.(1954-1956)CAG>GAG		clock							161.0	162.0	162.0					4																	56308750		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56308750G>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1954C>G	4.37:g.56308750G>C	ENSP00000308741:p.Gln652Glu					CLOCK_uc003hba.1_Missense_Mutation_p.Q652E|CLOCK_uc010igu.1_RNA	p.Q652E	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		22	2880	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		652					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1954C>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951947	0.73787	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04502	3.61;3.61;3.61	5.52	5.52	0.82312	.	3.542460	0.00481	N	0.000131	T	0.18257	0.0438	M	0.77313	2.365	0.58432	D	0.999997	B	0.28900	0.227	B	0.35039	0.194	T	0.49123	-0.8972	10	0.62326	D	0.03	.	19.8061	0.96532	0.0:0.0:1.0:0.0	.	652	O15516	CLOCK_HUMAN	E	652	ENSP00000308741:Q652E;ENSP00000370723:Q652E;ENSP00000426983:Q652E	ENSP00000308741:Q652E	Q	-	1	0	CLOCK	56003507	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.911000	0.92721	2.756000	0.94617	0.655000	0.94253	CAG		PASS	0.403	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		14	34	14	34	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71201572	71201572	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:71201572C>A	ENST00000273936.5	+	1	890	c.816C>A	c.(814-816)acC>acA	p.T272T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	272					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.T272T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTCACTACCTCTGCTGAAA	0.408																																						uc003hff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)ACC>ACA		testis development protein NYD-SP26							97.0	94.0	95.0					4																	71201572		2203	4300	6503	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201572C>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.816C>A	4.37:g.71201572C>A							p.T272T	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	902	+		all_hematologic(202;0.196)	272					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.816C>A	CCDS3539.1																																																																																				PASS	0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		6	75	6	75	---	---	---	---
PARM1	25849	broad.mit.edu	37	4	75938085	75938085	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:75938085C>A	ENST00000307428.7	+	2	706	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	165					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.P165Q(2)|p.P224Q(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCAACCTCACCACCTGAGGTC	0.592																																						uc003hih.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(493-495)CCA>CAA		prostatic androgen-repressed message-1							245.0	259.0	254.0					4																	75938085		2134	4244	6378	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938085C>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.494C>A	4.37:g.75938085C>A	ENSP00000370224:p.Pro165Gln						p.P165Q	NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN			2	734	+			165			Extracellular (Potential).		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.494C>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853111	0.51270	.	.	ENSG00000169116	ENST00000307428	T	0.54479	0.57	4.89	1.19	0.21007	.	0.587151	0.16412	N	0.215535	T	0.51873	0.1700	L	0.32530	0.975	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.40701	-0.9549	10	0.52906	T	0.07	-0.1417	7.4066	0.26993	0.0:0.6385:0.0:0.3615	.	165	Q6UWI2	PARM1_HUMAN	Q	165	ENSP00000370224:P165Q	ENSP00000370224:P165Q	P	+	2	0	PARM1	76157109	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.046000	0.14035	0.007000	0.14760	-0.373000	0.07131	CCA		PASS	0.592	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		8	272	8	272	---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76570869	76570869	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:76570869C>A	ENST00000359707.4	-	12	1979	c.1194G>T	c.(1192-1194)ggG>ggT	p.G398G	G3BP2_ENST00000395719.3_Silent_p.G398G|G3BP2_ENST00000357854.3_Silent_p.G365G	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	398	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.G398G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACGTACTTCCCCTCGAAACA	0.403																																						uc003hir.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(1192-1194)GGG>GGT		Ras-GTPase activating protein SH3 domain-binding							154.0	135.0	141.0					4																	76570869		2203	4300	6503	SO:0001819	synonymous_variant	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76570869C>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1194G>T	4.37:g.76570869C>A						G3BP2_uc003his.2_Silent_p.G398G|G3BP2_uc003hit.2_Silent_p.G365G	p.G398G	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		12	1359	-			398			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Silent	SNP	ENST00000359707.4	37	c.1194G>T	CCDS3571.1																																																																																				PASS	0.403	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		8	27	8	27	---	---	---	---
PLA2G12A	81579	broad.mit.edu	37	4	110635635	110635635	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:110635635C>A	ENST00000243501.5	-	4	735	c.468G>T	c.(466-468)gtG>gtT	p.V156V	PLA2G12A_ENST00000502283.1_Silent_p.V154V	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	156					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.V156V(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		ACAAGAGCTCCACTGTTGTTT	0.408																																						uc003hzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)GTG>GTT		phospholipase A2, group XIIA precursor							163.0	159.0	160.0					4																	110635635		2203	4300	6503	SO:0001819	synonymous_variant	81579				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr4:110635635C>A		CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"""phospholipase A2, group XII"""	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.468G>T	4.37:g.110635635C>A						PLA2G12A_uc010img.2_Silent_p.V154V	p.V156V	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000268)	4	745	-			156					Q9BZ89	Silent	SNP	ENST00000243501.5	37	c.468G>T	CCDS3686.1																																																																																				PASS	0.408	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3			7	123	7	123	---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114378622	114378622	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:114378622G>A	ENST00000342666.5	-	17	1301	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	CAMK2D_ENST00000296402.5_Silent_p.L434L|CAMK2D_ENST00000511664.1_Silent_p.L468L|CAMK2D_ENST00000379773.2_Silent_p.L434L|CAMK2D_ENST00000454265.2_Silent_p.L459L|CAMK2D_ENST00000394526.2_Silent_p.L445L|CAMK2D_ENST00000514328.1_Silent_p.L433L|CAMK2D_ENST00000394522.3_Silent_p.L448L|CAMK2D_ENST00000515496.1_Silent_p.L445L|CAMK2D_ENST00000418639.2_Silent_p.L448L|CAMK2D_ENST00000429180.1_Silent_p.L454L|CAMK2D_ENST00000394524.3_Silent_p.L434L|CAMK2D_ENST00000508738.1_Silent_p.L445L|CAMK2D_ENST00000505990.1_Silent_p.L468L			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	434					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)	p.L434L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGTACTGTGTGAGCCTAATAT	0.463																																						uc003ibi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1300-1302)CTC>CTT		calcium/calmodulin-dependent protein kinase II							192.0	183.0	186.0					4																	114378622		2203	4300	6503	SO:0001819	synonymous_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114378622G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1302C>T	4.37:g.114378622G>A						CAMK2D_uc003ibj.2_Silent_p.L434L|CAMK2D_uc003ibk.2_Silent_p.L434L|CAMK2D_uc003ibo.3_Silent_p.L468L|CAMK2D_uc003ibm.2_Silent_p.L448L|CAMK2D_uc003ibn.2_Silent_p.L445L|CAMK2D_uc003ibl.2_Silent_p.L434L	p.L434L	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	17	2161	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	434					A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	c.1302C>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951798	0.18431	.	.	ENSG00000145349	ENST00000513132	.	.	.	5.93	5.04	0.67666	.	.	.	.	.	T	0.73473	0.3591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71573	-0.4552	4	.	.	.	.	17.4604	0.87619	0.0:0.2083:0.7917:0.0	.	.	.	.	Y	138	.	.	H	-	1	0	CAMK2D	114598071	0.994000	0.37717	1.000000	0.80357	0.831000	0.47069	0.341000	0.19909	2.812000	0.96745	0.555000	0.69702	CAC		PASS	0.463	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			33	85	33	85	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144387363	144387363	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:144387363C>A	ENST00000262994.4	+	9	2213	c.1911C>A	c.(1909-1911)tcC>tcA	p.S637S	GAB1_ENST00000505913.1_Silent_p.S534S|GAB1_ENST00000262995.4_Silent_p.S667S	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	637					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.S667S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CTGGGAAATCCACACCACCAC	0.413																																						uc003ije.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(1909-1911)TCC>TCA		GRB2-associated binding protein 1 isoform b							139.0	124.0	129.0					4																	144387363		2203	4300	6503	SO:0001819	synonymous_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144387363C>A	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1911C>A	4.37:g.144387363C>A						GAB1_uc003ijd.2_Silent_p.S667S|GAB1_uc011chq.1_Silent_p.S534S	p.S637S	NM_002039	NP_002030	Q13480	GAB1_HUMAN			9	2270	+	all_hematologic(180;0.158)		637					A8K152|Q4W5G2|Q6P1W2	Silent	SNP	ENST00000262994.4	37	c.1911C>A	CCDS3759.1																																																																																				PASS	0.413	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		5	72	5	72	---	---	---	---
PRMT9	90826	broad.mit.edu	37	4	148605110	148605110	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:148605110C>A	ENST00000322396.6	-	1	271	c.29G>T	c.(28-30)cGa>cTa	p.R10L	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		10						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.R10L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCCGGCGTCTCGGCGGGACCT	0.607																																						uc003ilc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(28-30)CGA>CTA		protein arginine methyltransferase 10							16.0	20.0	18.0					4																	148605110		2201	4283	6484	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148605110C>A																												ENST00000322396.6:c.29G>T	4.37:g.148605110C>A	ENSP00000314396:p.Arg10Leu					PRMT10_uc003ild.2_5'UTR	p.R10L	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			1	171	-			10					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.29G>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211560	0.39102	.	.	ENSG00000164169	ENST00000322396	T	0.24538	1.85	4.09	3.25	0.37280	.	0.265344	0.33792	N	0.004558	T	0.19287	0.0463	L	0.43152	1.355	0.80722	D	1	P	0.36199	0.543	B	0.28553	0.091	T	0.06935	-1.0799	10	0.52906	T	0.07	-0.0744	11.6044	0.51024	0.0:0.9103:0.0:0.0896	.	10	Q6P2P2	ANM10_HUMAN	L	10	ENSP00000314396:R10L	ENSP00000314396:R10L	R	-	2	0	PRMT10	148824560	0.962000	0.33011	0.856000	0.33681	0.278000	0.26855	1.316000	0.33620	1.325000	0.45301	0.644000	0.83932	CGA		PASS	0.607	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			6	11	6	11	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152095916	152095916	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:152095916C>A	ENST00000409252.2	-	6	1307	c.600G>T	c.(598-600)ttG>ttT	p.L200F	SH3D19_ENST00000427414.2_Missense_Mutation_p.L200F|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000455740.1_Missense_Mutation_p.L200F|SH3D19_ENST00000514152.1_Missense_Mutation_p.L200F|SH3D19_ENST00000304527.4_Missense_Mutation_p.L200F|SH3D19_ENST00000409598.4_Missense_Mutation_p.L200F|SH3D19_ENST00000424281.1_Missense_Mutation_p.L200F			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	200	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.L197F(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CGATGTCCACCAAGGGCTTGC	0.552																																						uc010ipl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(598-600)TTG>TTT		SH3 domain containing 19 isoform a							163.0	180.0	175.0					4																	152095916		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152095916C>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.600G>T	4.37:g.152095916C>A	ENSP00000386848:p.Leu200Phe					SH3D19_uc003imc.2_Missense_Mutation_p.L200F|SH3D19_uc003ime.2_Missense_Mutation_p.L200F|SH3D19_uc010ipm.2_Missense_Mutation_p.L200F	p.L200F	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			7	1690	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	200			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.600G>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	0.169	-1.073643	0.01918	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70869	-0.52;0.12;-0.52;-0.49;-0.49;0.12;-0.52	5.53	-9.64	0.00541	.	1.693110	0.03385	N	0.201049	T	0.52773	0.1755	N	0.22421	0.69	0.09310	N	1	P;P;P	0.43519	0.71;0.809;0.809	B;B;P	0.45232	0.193;0.354;0.474	T	0.59568	-0.7430	10	0.41790	T	0.15	8.0516	3.1349	0.06436	0.156:0.1421:0.1495:0.5524	.	200;200;200	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	F	200	ENSP00000387030:L200F;ENSP00000302913:L200F;ENSP00000416708:L200F;ENSP00000404542:L200F;ENSP00000415694:L200F;ENSP00000386848:L200F;ENSP00000423449:L200F	ENSP00000302913:L200F	L	-	3	2	SH3D19	152315366	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.944000	0.03913	-2.211000	0.00737	-0.275000	0.10095	TTG		PASS	0.552	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		8	204	8	204	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159052033	159052033	+	Missense_Mutation	SNP	C	C	A	rs553579479		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:159052033C>A	ENST00000296530.8	-	4	1878	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	FAM198B_ENST00000585682.1_Missense_Mutation_p.K419N|FAM198B_ENST00000393807.5_Missense_Mutation_p.K427N|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	419						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K419N(1)|p.K427N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTGGGTCATGCTTTCGCTGGA	0.423																																						uc003ipp.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1255-1257)AAG>AAT		hypothetical protein LOC51313 isoform 2							118.0	109.0	112.0					4																	159052033		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159052033C>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1257G>T	4.37:g.159052033C>A	ENSP00000296530:p.Lys419Asn					FAM198B_uc003ipq.3_Missense_Mutation_p.K427N|FAM198B_uc003ipr.3_Missense_Mutation_p.K419N	p.K419N	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			4	1709	-			419			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.1257G>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462018	0.43736	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000505460	T;T	0.33438	1.41;1.41	5.71	4.87	0.63330	.	0.397289	0.30374	N	0.009772	T	0.30198	0.0757	L	0.49350	1.555	0.80722	D	1	P;B	0.36282	0.546;0.355	B;B	0.36845	0.234;0.107	T	0.08126	-1.0737	10	0.49607	T	0.09	-1.4686	12.8422	0.57809	0.0:0.8642:0.0:0.1358	.	427;419	Q6UWH4-2;Q6UWH4	.;F198B_HUMAN	N	419;419;427;125	ENSP00000296530:K419N;ENSP00000377396:K427N	ENSP00000296530:K419N	K	-	3	2	FAM198B	159271483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.733000	0.26087	1.558000	0.49541	0.650000	0.86243	AAG		PASS	0.423	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		10	49	10	49	---	---	---	---
C4orf46	201725	broad.mit.edu	37	4	159592877	159592877	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:159592877G>C	ENST00000379205.4	-	1	321	c.77C>G	c.(76-78)tCt>tGt	p.S26C	C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank|ETFDH_ENST00000511912.1_5'Flank|C4orf46_ENST00000508457.1_Missense_Mutation_p.S26C	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	26								p.S26C(1)		kidney(1)|lung(3)|skin(1)	5						AGATGCTGCAGAGGCGTCTGA	0.667																																						uc003iqa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(76-78)TCT>TGT		hypothetical protein LOC201725							17.0	18.0	18.0					4																	159592877		2200	4296	6496	SO:0001583	missense	201725							g.chr4:159592877G>C		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.77C>G	4.37:g.159592877G>C	ENSP00000368503:p.Ser26Cys					C4orf46_uc010iqp.1_Intron|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	p.S26C	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN			1	326	-			26					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.77C>G	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884826	0.33255	.	.	ENSG00000205208	ENST00000379205;ENST00000508457	.	.	.	4.11	2.36	0.29203	.	0.841260	0.10198	N	0.703796	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	D	0.61697	0.99	P	0.50192	0.634	T	0.09640	-1.0665	9	0.66056	D	0.02	.	5.8019	0.18417	0.2386:0.0:0.7614:0.0	.	26	Q504U0	CD046_HUMAN	C	26	.	ENSP00000368503:S26C	S	-	2	0	C4orf46	159812327	0.975000	0.34042	0.002000	0.10522	0.001000	0.01503	3.923000	0.56469	1.076000	0.40961	-0.253000	0.11424	TCT		PASS	0.667	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		6	7	6	7	---	---	---	---
FAM218A	152756	broad.mit.edu	37	4	165878325	165878325	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:165878325G>T	ENST00000513876.2	+	1	226	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	51								p.G51C(1)									TACGCTGACCGGCGGCCGCCA	0.617																																						uc003iqx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)GGC>TGC		hypothetical protein LOC152756							21.0	20.0	21.0					4																	165878325		2203	4299	6502	SO:0001583	missense	152756							g.chr4:165878325G>T	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.151G>T	4.37:g.165878325G>T	ENSP00000427428:p.Gly51Cys					TRIM61_uc003iqw.2_Intron	p.G51C	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN		GBM - Glioblastoma multiforme(119;0.146)	1	226	+	all_hematologic(180;0.221)	Prostate(90;0.109)	51						Missense_Mutation	SNP	ENST00000513876.2	37	c.151G>T	CCDS3807.1	.	.	.	.	.	.	.	.	.	.	g	0.208	-1.039221	0.02013	.	.	ENSG00000250486	ENST00000513876	T	0.59364	0.27	0.543	-1.09	0.09904	.	.	.	.	.	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	D	0.57257	0.979	B	0.39465	0.3	T	0.30621	-0.9972	8	0.87932	D	0	.	.	.	.	.	51	Q96MZ4	CD039_HUMAN	C	51	ENSP00000427428:G51C	ENSP00000427428:G51C	G	+	1	0	C4orf39	166097775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.677000	0.00839	-2.267000	0.00686	-2.778000	0.00118	GGC		PASS	0.617	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		4	2	4	2	---	---	---	---
CEP44	80817	broad.mit.edu	37	4	175231093	175231093	+	Missense_Mutation	SNP	G	G	T	rs374542523		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:175231093G>T	ENST00000503780.1	+	8	1185	c.771G>T	c.(769-771)agG>agT	p.R257S	CEP44_ENST00000426172.1_Missense_Mutation_p.R257S|CEP44_ENST00000296519.4_Missense_Mutation_p.R257S|CEP44_ENST00000457424.2_Missense_Mutation_p.R257S	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	257						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)		p.R257S(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TAGAGAAAAGGTTAGACTGTT	0.353																																						uc003itr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)AGG>AGT		HBV PreS1-transactivated protein 3 isoform a							79.0	86.0	83.0					4																	175231093		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175231093G>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.771G>T	4.37:g.175231093G>T	ENSP00000423153:p.Arg257Ser					KIAA1712_uc010iro.2_Missense_Mutation_p.R257S|KIAA1712_uc003its.2_RNA	p.R257S	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)	8	1185	+		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	257			Potential.		A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.771G>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	G	9.651	1.141522	0.21205	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.52983	0.68;0.64;0.64;0.68	5.56	1.61	0.23674	.	0.086238	0.49305	D	0.000160	T	0.57213	0.2038	M	0.66939	2.045	0.28909	N	0.892841	D;D	0.63880	0.993;0.986	P;P	0.60886	0.88;0.88	T	0.53982	-0.8361	10	0.72032	D	0.01	.	7.4005	0.26960	0.509:0.0:0.491:0.0	.	257;257	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	S	257	ENSP00000423153:R257S;ENSP00000389427:R257S;ENSP00000408221:R257S;ENSP00000296519:R257S	ENSP00000296519:R257S	R	+	3	2	CEP44	175467668	0.890000	0.30428	0.693000	0.30195	0.138000	0.21146	0.333000	0.19768	0.218000	0.20820	-0.237000	0.12165	AGG		PASS	0.353	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		11	31	11	31	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14711350	14711350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:14711350C>A	ENST00000284268.6	-	12	1765	c.1435G>T	c.(1435-1437)Gag>Tag	p.E479*	ANKH_ENST00000535119.1_Nonsense_Mutation_p.E281*	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	479					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.E479*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCACCTCCTCTGTCGGAGGC	0.537																																						uc003jfm.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1435-1437)GAG>TAG		progressive ankylosis protein							306.0	264.0	278.0					5																	14711350		2203	4300	6503	SO:0001587	stop_gained	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711350C>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1435G>T	5.37:g.14711350C>A	ENSP00000284268:p.Glu479*					ANKH_uc003jfl.3_Nonsense_Mutation_p.E192*	p.E479*	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			12	1766	-			479			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Nonsense_Mutation	SNP	ENST00000284268.6	37	c.1435G>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	40	8.458141	0.98820	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	.	.	.	5.17	5.17	0.71159	.	0.357205	0.31884	N	0.006912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-46.893	17.6795	0.88239	0.0:1.0:0.0:0.0	.	.	.	.	X	281;479	.	ENSP00000284268:E479X	E	-	1	0	ANKH	14764350	1.000000	0.71417	0.942000	0.38095	0.935000	0.57460	4.678000	0.61641	2.411000	0.81874	0.655000	0.94253	GAG		PASS	0.537	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		6	149	6	149	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66460893	66460893	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:66460893C>A	ENST00000403625.2	+	29	6181	c.5886C>A	c.(5884-5886)tcC>tcA	p.S1962S	MAST4_ENST00000405643.1_Silent_p.S1783S|MAST4_ENST00000261569.7_Silent_p.S1768S|MAST4_ENST00000404260.3_Silent_p.S1965S|MAST4_ENST00000403666.1_Silent_p.S1773S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1965						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1965S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGAAGCTTCCCCCTCAAGGG	0.642																																						uc003jut.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(5317-5319)TCC>TCA		microtubule associated serine/threonine kinase							21.0	27.0	25.0					5																	66460893		1978	4162	6140	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66460893C>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5886C>A	5.37:g.66460893C>A						MAST4_uc003juw.2_Silent_p.S1701S|MAST4_uc003jux.2_5'Flank	p.S1773S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5387	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1965					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5319C>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	4.817	0.151882	0.09185	.	.	ENSG00000069020	ENST00000443808	.	.	.	4.99	-3.24	0.05094	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28870	-1.0030	4	.	.	.	1.1736	6.3356	0.21294	0.1029:0.2274:0.5268:0.1428	.	.	.	.	T	1019	.	.	P	+	1	0	MAST4	66496649	.	.	0.000000	0.03702	0.019000	0.09904	.	.	-0.996000	0.03455	0.563000	0.77884	CCC		PASS	0.642	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			4	10	4	10	---	---	---	---
FER	2241	broad.mit.edu	37	5	108290449	108290449	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:108290449T>G	ENST00000281092.4	+	12	1733	c.1349T>G	c.(1348-1350)aTc>aGc	p.I450S	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.I275S	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	450					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.I450S(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATGATCTCCATCAGTGAGAAG	0.318																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1348-1350)ATC>AGC		fer (fps/fes related) tyrosine kinase							41.0	39.0	40.0					5																	108290449		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290449T>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1349T>G	5.37:g.108290449T>G	ENSP00000281092:p.Ile450Ser					FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.I275S	p.I450S	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1733	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	450					B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1349T>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	3.422	-0.118017	0.06838	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.74209	-0.82;-0.82	5.48	-3.5	0.04710	.	0.639247	0.16803	N	0.198910	T	0.39572	0.1083	N	0.02120	-0.675	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41124	-0.9526	10	0.10377	T	0.69	5.2101	10.2742	0.43499	0.1446:0.6924:0.0:0.1629	.	450	P16591	FER_HUMAN	S	450;275	ENSP00000281092:I450S;ENSP00000394297:I275S	ENSP00000281092:I450S	I	+	2	0	FER	108318348	0.893000	0.30496	0.000000	0.03702	0.155000	0.21991	1.905000	0.39878	-0.555000	0.06142	-1.426000	0.01102	ATC		PASS	0.318	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		3	14	3	14	---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108714608	108714608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:108714608G>A	ENST00000361189.2	-	4	819	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Nonsense_Mutation_p.Q194*	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	194					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q194*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AATGATTCCTGGTATCTACTA	0.418																																						uc003kos.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(580-582)CAG>TAG		praja 2, RING-H2 motif containing							147.0	131.0	137.0					5																	108714608		2202	4300	6502	SO:0001587	stop_gained	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714608G>A	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.580C>T	5.37:g.108714608G>A	ENSP00000354775:p.Gln194*						p.Q194*	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	800	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	194					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Nonsense_Mutation	SNP	ENST00000361189.2	37	c.580C>T	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100711	0.76983	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	.	.	.	6.17	5.3	0.74995	.	0.079270	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-10.7557	10.5403	0.45029	0.0687:0.1339:0.7973:0.0	.	.	.	.	X	194	.	ENSP00000354775:Q194X	Q	-	1	0	PJA2	108742507	1.000000	0.71417	0.993000	0.49108	0.233000	0.25261	3.374000	0.52402	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.418	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		19	53	19	53	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112899572	112899572	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:112899572A>G	ENST00000161863.4	+	20	2672	c.2459A>G	c.(2458-2460)gAt>gGt	p.D820G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	820					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.D820G(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GATGCAATGGATACATGGGAA	0.363																																						uc003kqn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2458-2460)GAT>GGT		YTH domain containing 2							161.0	146.0	151.0					5																	112899572		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112899572A>G	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2459A>G	5.37:g.112899572A>G	ENSP00000161863:p.Asp820Gly						p.D820G	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	20	2642	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	820					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.2459A>G	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523947	0.85600	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.38401	1.14	5.07	5.07	0.68467	Helicase-associated domain (2);	0.104975	0.64402	D	0.000005	T	0.53981	0.1830	M	0.82716	2.605	0.80722	D	1	B	0.34103	0.437	P	0.45276	0.475	T	0.60717	-0.7208	10	0.72032	D	0.01	.	15.1161	0.72404	1.0:0.0:0.0:0.0	.	820	Q9H6S0	YTDC2_HUMAN	G	820;730	ENSP00000161863:D820G	ENSP00000161863:D820G	D	+	2	0	YTHDC2	112927471	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.287000	0.95975	2.042000	0.60477	0.533000	0.62120	GAT		PASS	0.363	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		23	55	23	55	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115351326	115351326	+	Splice_Site	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:115351326T>C	ENST00000357872.4	+	18	2744	c.2620T>C	c.(2620-2622)Tat>Cat	p.Y874H	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		874						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y874H(1)									CTTTTGCAGATATATGGAGTA	0.328																																						uc003kro.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2620-2622)TAT>CAT		laeverin							67.0	68.0	68.0					5																	115351326		2202	4300	6502	SO:0001630	splice_region_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115351326T>C																												ENST00000357872.4:c.2619-1T>C	5.37:g.115351326T>C						AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.Y874H	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			18	2784	+			874			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2620T>C	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243530	0.39697	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05447	3.44	5.85	5.85	0.93711	.	0.412203	0.20815	N	0.085168	T	0.19644	0.0472	M	0.71581	2.175	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.00144	-1.1994	10	0.87932	D	0	.	12.6189	0.56592	0.0:0.0:0.0:1.0	.	874	Q6Q4G3	AMPQ_HUMAN	H	874;863	ENSP00000350541:Y874H	ENSP00000350541:Y874H	Y	+	1	0	AC010282.1	115379225	1.000000	0.71417	0.654000	0.29608	0.028000	0.11728	4.172000	0.58243	2.234000	0.73211	0.460000	0.39030	TAT		PASS	0.328	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		Missense_Mutation	7	17	7	17	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127597470	127597470	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:127597470G>T	ENST00000508053.1	-	70	9296	c.8322C>A	c.(8320-8322)gaC>gaA	p.D2774E	FBN2_ENST00000262464.4_Missense_Mutation_p.D2774E			P35556	FBN2_HUMAN	fibrillin 2	2774					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D2774E(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTGCCTGCTGTCTTTCTTAG	0.463																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8320-8322)GAC>GAA		fibrillin 2 precursor							263.0	229.0	241.0					5																	127597470		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127597470G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8322C>A	5.37:g.127597470G>T	ENSP00000424571:p.Asp2774Glu						p.D2774E	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	64	8761	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2774					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8322C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188768	0.21954	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.83506	-1.73;-1.73	5.48	-4.4	0.03600	.	0.340953	0.28566	N	0.014886	T	0.58090	0.2098	N	0.25647	0.755	0.19775	N	0.999954	B	0.02656	0.0	B	0.06405	0.002	T	0.50800	-0.8785	10	0.09338	T	0.73	.	0.2223	0.00169	0.2402:0.2025:0.2471:0.3102	.	2774	P35556	FBN2_HUMAN	E	2774	ENSP00000262464:D2774E;ENSP00000424571:D2774E	ENSP00000262464:D2774E	D	-	3	2	FBN2	127625369	0.000000	0.05858	0.005000	0.12908	0.207000	0.24258	-0.692000	0.05127	-0.707000	0.05022	0.650000	0.86243	GAC		PASS	0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		12	61	12	61	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135388688	135388688	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:135388688G>A	ENST00000442011.2	+	8	1167	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	TGFBI_ENST00000305126.8_Missense_Mutation_p.E336K	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	336	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.E336K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACGACACTGGAGGTGGGCTG	0.552																																						uc003lbf.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1006-1008)GAG>AAG		transforming growth factor, beta-induced, 68kDa							78.0	88.0	84.0					5																	135388688		2122	4243	6365	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135388688G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1006G>A	5.37:g.135388688G>A	ENSP00000416330:p.Glu336Lys					TGFBI_uc003lbg.3_Missense_Mutation_p.E69K|TGFBI_uc003lbh.3_Missense_Mutation_p.E162K|TGFBI_uc011cyb.1_Missense_Mutation_p.E162K|TGFBI_uc010jed.2_Missense_Mutation_p.E69K	p.E336K	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1167	+			336			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1006G>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.092894|5.092894	0.94149|0.94149	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.90504|.	-2.68;-2.68|.	5.65|5.65	5.65|5.65	0.86999|0.86999	FAS1 domain (5);|.	0.088257|.	0.85682|.	D|.	0.000000|.	T|T	0.55577|0.55577	0.1929|0.1929	N|N	0.20807|0.20807	0.61|0.61	0.80722|0.80722	D|D	1|1	P;P|.	0.46457|.	0.744;0.878|.	P;P|.	0.49922|.	0.626;0.458|.	T|T	0.47824|0.47824	-0.9087|-0.9087	10|5	0.52906|.	T|.	0.07|.	-17.0923|-17.0923	20.073|20.073	0.97731|0.97731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	69;336|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	K|E	336;69;336|53	ENSP00000416330:E336K;ENSP00000306306:E336K|.	ENSP00000306306:E336K|.	E|G	+|+	1|2	0|0	TGFBI|TGFBI	135416587|135416587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	9.809000|9.809000	0.99208|0.99208	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.552	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			23	29	23	29	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137761207	137761207	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:137761207G>C	ENST00000314358.5	+	17	4547	c.4347G>C	c.(4345-4347)agG>agC	p.R1449S	KDM3B_ENST00000542866.1_Missense_Mutation_p.R481S|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1105S	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1449					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R1449S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGAACTGCAGGAACTGTGCTA	0.443																																						uc003lcy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4345-4347)AGG>AGC		jumonji domain containing 1B							146.0	145.0	145.0					5																	137761207		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137761207G>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4347G>C	5.37:g.137761207G>C	ENSP00000326563:p.Arg1449Ser					KDM3B_uc010jew.1_Missense_Mutation_p.R1105S|KDM3B_uc011cys.1_Missense_Mutation_p.R481S	p.R1449S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			17	4547	+			1449					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4347G>C	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584904	0.65992	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70164	-0.46;-0.46;-0.46	5.17	2.42	0.29668	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	L	0.39245	1.2	0.58432	D	0.999997	D;P	0.54964	0.969;0.903	P;P	0.56278	0.795;0.684	T	0.59716	-0.7402	10	0.37606	T	0.19	-1.5607	8.0241	0.30427	0.3897:0.0:0.6103:0.0	.	1105;1449	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	1449;1239;1105;481	ENSP00000326563:R1449S;ENSP00000378335:R1105S;ENSP00000439462:R481S	ENSP00000326563:R1449S	R	+	3	2	KDM3B	137789106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.826000	0.27407	0.203000	0.20529	0.563000	0.77884	AGG		PASS	0.443	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		23	66	23	66	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156731318	156731318	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:156731318G>T	ENST00000521420.1	+	7	752	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	CYFIP2_ENST00000541131.1_Missense_Mutation_p.D172Y|CYFIP2_ENST00000347377.6_Missense_Mutation_p.D247Y|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D247Y|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D247Y|CYFIP2_ENST00000522463.1_Intron					cytoplasmic FMR1 interacting protein 2									p.D247Y(3)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTGTGTGGATTACTACGA	0.532																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(739-741)GAT>TAT		cytoplasmic FMR1 interacting protein 2							99.0	103.0	102.0					5																	156731318		2173	4280	6453	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156731318G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.661G>T	5.37:g.156731318G>T	ENSP00000430904:p.Asp221Tyr					CYFIP2_uc011ddn.1_Missense_Mutation_p.D221Y|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lws.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.D125Y|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.D125Y	p.D247Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	877	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	247						Missense_Mutation	SNP	ENST00000521420.1	37	c.739G>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.683086	0.88542	.	.	ENSG00000055163	ENST00000318218;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.43923	1.385	0.80722	D	1	B;B;B;P;P	0.47841	0.083;0.008;0.047;0.894;0.901	B;B;B;B;B	0.44315	0.017;0.005;0.053;0.446;0.312	T	0.38394	-0.9663	10	0.33940	T	0.23	-19.4205	19.1002	0.93270	0.0:0.0:1.0:0.0	.	221;247;247;247;172	E7EVJ5;E7EVF4;Q96F07-2;Q96F07;B7Z4I3	.;.;.;CYFP2_HUMAN;.	Y	247;221;247;247;172	ENSP00000325817:D247Y;ENSP00000430904:D221Y;ENSP00000313567:D247Y;ENSP00000366799:D247Y;ENSP00000444645:D172Y	ENSP00000325817:D247Y	D	+	1	0	CYFIP2	156663896	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.814000	0.99346	2.508000	0.84585	0.561000	0.74099	GAT		PASS	0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		20	48	20	48	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159398990	159398990	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:159398990A>C	ENST00000306675.3	+	2	1177	c.1054A>C	c.(1054-1056)Agc>Cgc	p.S352R		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	352					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.S352R(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCCATGCTCCAGCAAGGAGTT	0.687																																						uc003lxt.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1054-1056)AGC>CGC		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						30.0	32.0	31.0					5																	159398990		2202	4297	6499	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159398990A>C	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.1054A>C	5.37:g.159398990A>C	ENSP00000306662:p.Ser352Arg						p.S352R	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1227	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	352			Cytoplasmic (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.1054A>C	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466968	0.84425	.	.	ENSG00000170214	ENST00000306675	T	0.42900	0.96	4.39	4.39	0.52855	.	0.130470	0.64402	D	0.000001	T	0.58264	0.2110	L	0.57536	1.79	0.44937	D	0.997954	D	0.71674	0.998	D	0.70487	0.969	T	0.62234	-0.6897	10	0.87932	D	0	.	12.4591	0.55721	1.0:0.0:0.0:0.0	.	352	P35368	ADA1B_HUMAN	R	352	ENSP00000306662:S352R	ENSP00000306662:S352R	S	+	1	0	ADRA1B	159331568	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.918000	0.92759	1.641000	0.50575	0.379000	0.24179	AGC		PASS	0.687	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			9	26	9	26	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161495049	161495049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:161495049C>A	ENST00000361925.4	+	1	264	c.44C>A	c.(43-45)tCg>tAg	p.S15*	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.S15*|GABRG2_ENST00000356592.3_Nonsense_Mutation_p.S15*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	15					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S15*(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGTCTACTCGACTCCTGTA	0.468																																						uc003lyz.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(1)	5						c.(43-45)TCG>TAG		gamma-aminobutyric acid A receptor, gamma 2							92.0	87.0	89.0					5																	161495049		2203	4300	6503	SO:0001587	stop_gained	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161495049C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.44C>A	5.37:g.161495049C>A	ENSP00000354651:p.Ser15*					GABRG2_uc010jjc.2_Nonsense_Mutation_p.S15*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.S15*|GABRG2_uc011dej.1_5'UTR	p.S15*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	402	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	15					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	c.44C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	39	7.675262	0.98425	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	.	.	.	4.68	-0.935	0.10423	.	0.995724	0.08154	N	0.989634	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6809	0.28513	0.0:0.3959:0.4428:0.1613	.	.	.	.	X	15	.	ENSP00000349000:S15X	S	+	2	0	GABRG2	161427627	0.934000	0.31675	0.993000	0.49108	0.993000	0.82548	-0.292000	0.08332	-0.268000	0.09312	0.491000	0.48974	TCG		PASS	0.468	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			4	73	4	73	---	---	---	---
PANK3	79646	broad.mit.edu	37	5	167995926	167995926	+	Nonsense_Mutation	SNP	C	C	A	rs71603869		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:167995926C>A	ENST00000239231.6	-	2	422	c.106G>T	c.(106-108)Gag>Tag	p.E36*	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	36					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.E36*(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGCTCTTCCTCTGCTGTGATA	0.408																																						uc003lzz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(106-108)GAG>TAG		pantothenate kinase 3							99.0	95.0	97.0					5																	167995926		2203	4300	6503	SO:0001587	stop_gained	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995926C>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.106G>T	5.37:g.167995926C>A	ENSP00000239231:p.Glu36*						p.E36*	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	2	406	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	36					D3DQL1|Q53FJ9|Q7RTX4	Nonsense_Mutation	SNP	ENST00000239231.6	37	c.106G>T	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	37	6.384016	0.97524	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	.	.	.	5.6	5.6	0.85130	.	0.042781	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-13.3434	18.6082	0.91273	0.0:1.0:0.0:0.0	.	.	.	.	X	36;21	.	ENSP00000239231:E36X	E	-	1	0	PANK3	167928504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.618000	0.88619	0.591000	0.81541	GAG		PASS	0.408	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		5	75	5	75	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170337973	170337973	+	Splice_Site	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:170337973G>A	ENST00000523189.1	+	7	759	c.595G>A	c.(595-597)Gtg>Atg	p.V199M		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	199				V -> A (in Ref. 6; BAB55427). {ECO:0000305}.	mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.V199M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTTTTCAGGTGTTTGCCAA	0.308			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(595-597)GTG>ATG		RAN binding protein 17							90.0	85.0	87.0					5																	170337973		2203	4299	6502	SO:0001630	splice_region_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170337973G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.595-1G>A	5.37:g.170337973G>A						RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_3'UTR|RANBP17_uc011dew.1_Missense_Mutation_p.V199M	p.V199M	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		7	611	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	199	V -> A (in Ref. 3; BAB55427).				Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.595G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	13.26	2.184381	0.38609	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.42513	0.97	5.34	2.62	0.31277	Armadillo-type fold (1);	0.305871	0.23638	N	0.046048	T	0.27098	0.0664	L	0.31926	0.97	0.38197	D	0.940077	B	0.10296	0.003	B	0.19148	0.024	T	0.08764	-1.0706	9	.	.	.	-3.7326	6.0926	0.20003	0.2914:0.1268:0.5819:0.0	.	199	Q9H2T7	RBP17_HUMAN	M	199;95	ENSP00000427975:V199M	.	V	+	1	0	RANBP17	170270551	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.329000	0.33770	0.339000	0.23719	0.591000	0.81541	GTG		PASS	0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Missense_Mutation	16	48	16	48	---	---	---	---
HMP19	51617	broad.mit.edu	37	5	173534370	173534370	+	Silent	SNP	C	C	G	rs11557147		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:173534370C>G	ENST00000303177.3	+	5	640	c.378C>G	c.(376-378)ccC>ccG	p.P126P	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		126					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P126P(1)									CCCAGGACCCCAATTCCAGAA	0.592																																						uc003mcx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)CCC>CCG		HMP19 protein							73.0	73.0	73.0					5																	173534370		2203	4300	6503	SO:0001819	synonymous_variant	51617				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding	g.chr5:173534370C>G																												ENST00000303177.3:c.378C>G	5.37:g.173534370C>G						HMP19_uc011dfh.1_Missense_Mutation_p.P30R	p.P126P	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	523	+	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	126			Lumenal (Potential).		B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	c.378C>G	CCDS4391.1																																																																																				PASS	0.592	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			17	37	17	37	---	---	---	---
SFXN1	94081	broad.mit.edu	37	5	174919163	174919163	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:174919163C>G	ENST00000321442.5	+	2	311	c.57C>G	c.(55-57)agC>agG	p.S19R	SFXN1_ENST00000502393.1_Missense_Mutation_p.S19R	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	19					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.S19R(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGATCAAAGCACTTTCATTG	0.448																																						uc003mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)AGC>AGG		sideroflexin 1							111.0	98.0	103.0					5																	174919163		2203	4300	6503	SO:0001583	missense	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174919163C>G	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.57C>G	5.37:g.174919163C>G	ENSP00000316905:p.Ser19Arg					SFXN1_uc003mdb.1_5'UTR	p.S19R	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	195	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	19					B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	c.57C>G	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	7.480	0.648421	0.14516	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.38240	1.15;1.15;1.15	5.12	4.26	0.50523	.	0.132700	0.64402	D	0.000001	T	0.34687	0.0906	L	0.58354	1.805	0.58432	D	0.999999	B	0.15719	0.014	B	0.24006	0.05	T	0.16041	-1.0416	10	0.48119	T	0.1	-28.0269	9.363	0.38208	0.0:0.8378:0.0:0.1622	.	19	Q9H9B4	SFXN1_HUMAN	R	19	ENSP00000420961:S19R;ENSP00000316905:S19R;ENSP00000421467:S19R	ENSP00000316905:S19R	S	+	3	2	SFXN1	174851769	1.000000	0.71417	0.993000	0.49108	0.078000	0.17371	1.154000	0.31688	1.175000	0.42826	-0.228000	0.12330	AGC		PASS	0.448	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		15	34	15	34	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178391831	178391831	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr5:178391831C>T	ENST00000320129.3	+	5	729	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ZNF454_ENST00000519564.1_Silent_p.L142L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	142					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.L142L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAGTGGTACTCACTCACCCCA	0.488																																						uc003mjo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(424-426)CTC>CTT		zinc finger protein 454							93.0	89.0	90.0					5																	178391831		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391831C>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.426C>T	5.37:g.178391831C>T						ZNF454_uc010jkz.1_Silent_p.L142L	p.L142L	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	697	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	142					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.426C>T	CCDS4441.1																																																																																				PASS	0.488	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		12	36	12	36	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20546619	20546619	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:20546619T>C	ENST00000378610.1	+	1	48	c.38T>C	c.(37-39)aTc>aCc	p.I13T	CDKAL1_ENST00000274695.4_Missense_Mutation_p.I13T|CDKAL1_ENST00000378624.4_5'UTR			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	13					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.I13T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTGGATGACATCGAAGATATC	0.373																																						uc003ndc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(37-39)ATC>ACC		CDK5 regulatory subunit associated protein							127.0	121.0	123.0					6																	20546619		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20546619T>C	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.38T>C	6.37:g.20546619T>C	ENSP00000367873:p.Ile13Thr					CDKAL1_uc003ndd.1_Missense_Mutation_p.I13T|CDKAL1_uc003nde.1_5'UTR|CDKAL1_uc010jpo.1_Missense_Mutation_p.I13T|CDKAL1_uc003ndb.1_Missense_Mutation_p.I13T	p.I13T	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		3	212	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		13					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.38T>C	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705661	0.48412	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.54866	0.55;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73442	-0.3981	10	0.87932	D	0	.	15.7759	0.78214	0.0:0.0:0.0:1.0	.	13;13	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	T	13	ENSP00000274695:I13T;ENSP00000367873:I13T	ENSP00000274695:I13T	I	+	2	0	CDKAL1	20654598	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	6.330000	0.72925	2.308000	0.77769	0.533000	0.62120	ATC		PASS	0.373	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		56	46	56	46	---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783015	27783015	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:27783015C>G	ENST00000359465.4	+	1	194	c.194C>G	c.(193-195)tCc>tGc	p.S65C	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	65					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S65C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ATCATGAACTCCTTCGTCAAC	0.567																																						uc003njo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(193-195)TCC>TGC		histone cluster 1, H2bm							166.0	153.0	158.0					6																	27783015		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783015C>G	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.194C>G	6.37:g.27783015C>G	ENSP00000352442:p.Ser65Cys					HIST1H2AJ_uc003njn.1_5'Flank	p.S65C	NM_003521	NP_003512	Q99879	H2B1M_HUMAN			1	194	+			65					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.194C>G	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458589	0.43634	.	.	ENSG00000196374	ENST00000359465	T	0.71222	-0.55	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.52532	U	0.000074	D	0.88614	0.6484	H	0.97940	4.11	0.58432	D	0.999991	D	0.76494	0.999	D	0.77004	0.989	D	0.92614	0.6102	10	0.72032	D	0.01	.	15.9934	0.80223	0.0:1.0:0.0:0.0	.	65	Q99879	H2B1M_HUMAN	C	65	ENSP00000352442:S65C	ENSP00000352442:S65C	S	+	2	0	HIST1H2BM	27890994	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	5.474000	0.66781	2.308000	0.77769	0.563000	0.77884	TCC		PASS	0.567	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		64	76	64	76	---	---	---	---
GPX5	2880	broad.mit.edu	37	6	28493833	28493833	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:28493833C>A	ENST00000412168.2	+	1	132	c.43C>A	c.(43-45)Cta>Ata	p.L15I	GPX5_ENST00000469384.1_Missense_Mutation_p.L15I|GPX6_ENST00000483058.1_Intron	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	15					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.L15I(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCCCCTTCTCCTAGCCTGCTT	0.507																																						uc003nll.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(43-45)CTA>ATA		glutathione peroxidase 5 isoform 1 precursor	Glutathione(DB00143)						309.0	254.0	273.0					6																	28493833		2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28493833C>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.43C>A	6.37:g.28493833C>A	ENSP00000392398:p.Leu15Ile					GPX5_uc003nlm.2_Missense_Mutation_p.L15I|GPX5_uc003nln.2_5'Flank	p.L15I	NM_001509	NP_001500	O75715	GPX5_HUMAN			1	45	+			15					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.43C>A	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654367	0.47467	.	.	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.10668	4.18;2.85	3.95	2.1	0.27182	.	0.395874	0.20975	N	0.082311	T	0.05502	0.0145	M	0.72353	2.195	0.21782	N	0.999543	D;P	0.52996	0.957;0.908	P;B	0.44696	0.458;0.444	T	0.20505	-1.0273	10	0.51188	T	0.08	-1.7198	4.6853	0.12755	0.2141:0.674:0.0:0.1118	.	15;15	A1A4Y0;O75715	.;GPX5_HUMAN	I	15	ENSP00000392398:L15I;ENSP00000419935:L15I	ENSP00000392398:L15I	L	+	1	2	GPX5	28601812	0.004000	0.15560	0.407000	0.26434	0.150000	0.21749	0.132000	0.15891	0.590000	0.29694	0.650000	0.86243	CTA		PASS	0.507	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			7	238	7	238	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911087	29911087	+	Nonsense_Mutation	SNP	C	C	A	rs199474495		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:29911087C>A	ENST00000396634.1	+	5	727	c.386C>A	c.(385-387)tCg>tAg	p.S129*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.S129*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.S129*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.S129*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	129	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.S129*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GACGTGGGGTCGGACGGGCGC	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(385-387)TCG>TAG		major histocompatibility complex, class I, A							27.0	22.0	24.0					6																	29911087		1498	2697	4195	SO:0001587	stop_gained	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911087C>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.386C>A	6.37:g.29911087C>A	ENSP00000379873:p.Ser129*	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Nonsense_Mutation_p.S8*|HLA-A_uc003nok.2_Nonsense_Mutation_p.S8*|HLA-A_uc003non.2_Nonsense_Mutation_p.S129*|HLA-A_uc003noo.2_Nonsense_Mutation_p.S129*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.S129*|HLA-A_uc003nom.2_Nonsense_Mutation_p.S8*|HLA-A_uc010klp.2_Nonsense_Mutation_p.S101*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.S8*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.S8*	p.S129*	NM_002116	NP_002107	P30443	1A01_HUMAN			3	386	+			129			Extracellular (Potential).|Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	ENST00000396634.1	37	c.386C>A	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	37	6.485129	0.97603	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.78	3.78	0.43462	.	3.406660	0.02719	U	0.113799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.8913	0.35434	0.2231:0.7769:0.0:0.0	.	.	.	.	X	129	.	ENSP00000348012:S129X	S	+	2	0	HLA-A	30019066	0.000000	0.05858	0.268000	0.24571	0.552000	0.35366	0.110000	0.15437	2.106000	0.64143	0.485000	0.47835	TCG		PASS	0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		11	5	11	5	---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30954993	30954993	+	Silent	SNP	C	C	T	rs55809174		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:30954993C>T	ENST00000376296.3	+	2	1282	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	347	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N347N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCCACCAACTCTGAGTCCA	0.627																																						uc003nsh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1039-1041)AAC>AAT		mucin 21 precursor																																				SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30954993C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1041C>T	6.37:g.30954993C>T						MUC21_uc003nsi.1_RNA	p.N347N	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	1292	+			347			Ser-rich.|28 X 15 AA approximate tandem repeats.|22.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1041C>T	CCDS34388.1																																																																																				PASS	0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		6	157	6	157	---	---	---	---
APOM	55937	broad.mit.edu	37	6	31624395	31624395	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:31624395C>A	ENST00000375916.3	+	2	757	c.261C>A	c.(259-261)acC>acA	p.T87T	APOM_ENST00000375920.4_Silent_p.T15T|APOM_ENST00000375918.2_Silent_p.T15T|C6orf47-AS1_ENST00000422049.1_RNA	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	87					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)	p.T87T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TTCGTGCTACCATCCGCATGT	0.542																																					Colon(39;129 858 13764 41453 42617)	uc003nvl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)ACC>ACA		apolipoprotein M							114.0	98.0	104.0					6																	31624395		2203	4300	6503	SO:0001819	synonymous_variant	55937				cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	g.chr6:31624395C>A	AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.261C>A	6.37:g.31624395C>A						APOM_uc003nvk.2_Silent_p.T15T	p.T87T	NM_019101	NP_061974	O95445	APOM_HUMAN			2	334	+			87					B0UX98|Q5SRP4|Q9P046|Q9UMP6	Silent	SNP	ENST00000375916.3	37	c.261C>A	CCDS4710.1																																																																																				PASS	0.542	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3	NM_019101		5	75	5	75	---	---	---	---
HLA-DQA1	3117	broad.mit.edu	37	6	32610020	32610020	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:32610020G>T	ENST00000343139.5	+	3	705	c.603G>T	c.(601-603)ctG>ctT	p.L201L	HLA-DQA1_ENST00000395363.1_Silent_p.L201L|HLA-DQA1_ENST00000374949.2_Silent_p.L201L	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	200	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.L201L(1)		NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGCCTCTTCTGAAACACTGGG	0.428																																						uc003obr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(601-603)CTG>CTT		major histocompatibility complex, class II, DQ							98.0	104.0	102.0					6																	32610020		1508	2707	4215	SO:0001819	synonymous_variant	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32610020G>T		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.603G>T	6.37:g.32610020G>T						HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Silent_p.L201L|HLA-DQA1_uc003obu.2_5'Flank	p.L201L	NM_002122	NP_002113	P01909	DQA1_HUMAN			3	656	+			200			Ig-like C1-type.|Alpha-2.|Extracellular (Potential).		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	c.603G>T	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	6.203	0.405545	0.11754	.	.	ENSG00000196735	ENST00000486548	.	.	.	4.08	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.097	0.09995	0.2213:0.1942:0.5845:0.0	.	.	.	.	L	174	.	.	X	+	2	2	HLA-DQA1	32717998	0.003000	0.15002	0.994000	0.49952	0.852000	0.48524	-0.456000	0.06754	0.475000	0.27415	0.643000	0.83706	TGA		PASS	0.428	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		11	19	11	19	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32713839	32713839	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:32713839G>T	ENST00000374940.3	+	3	705	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	201	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.L201L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	AGCCTCTTCTGAAACACTGGG	0.498																																						uc003obx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(601-603)CTG>CTT		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						184.0	208.0	199.0					6																	32713839		1510	2709	4219	SO:0001819	synonymous_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713839G>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.603G>T	6.37:g.32713839G>T							p.L201L	NM_020056	NP_064440	P01906	DQA2_HUMAN			3	661	+			201			Alpha-2.|Extracellular (Potential).|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.603G>T	CCDS4753.1																																																																																				PASS	0.498	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		16	104	16	104	---	---	---	---
HLA-DOB	3112	broad.mit.edu	37	6	32781028	32781028	+	Splice_Site	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:32781028C>A	ENST00000438763.2	-	6	883	c.787G>T	c.(787-789)Gtc>Ttc	p.V263F		NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)	p.V263F(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GCTCTTGAGACCTGGAGGCAC	0.572																																						uc003oca.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(787-789)GTC>TTC		major histocompatibility complex, class II, DO							103.0	94.0	97.0					6																	32781028		1509	2708	4217	SO:0001630	splice_region_variant	3112				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32781028C>A		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.787-1G>T	6.37:g.32781028C>A							p.V263F	NM_002120	NP_002111	P13765	DOB_HUMAN			6	884	-			263			Cytoplasmic (Potential).		B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.787G>T	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558090	0.27827	.	.	ENSG00000241106	ENST00000438763	T	0.00611	6.23	4.81	2.06	0.26882	.	10.930900	0.01011	N	0.003821	T	0.00178	0.0005	N	0.14661	0.345	0.22266	N	0.999241	B	0.34015	0.435	B	0.31337	0.128	T	0.43845	-0.9366	10	0.45353	T	0.12	.	7.3662	0.26774	0.0:0.7143:0.0:0.2857	.	263	P13765	DOB_HUMAN	F	263	ENSP00000390020:V263F	ENSP00000390020:V263F	V	-	1	0	HLA-DOB	32889006	0.022000	0.18835	0.120000	0.21714	0.038000	0.13279	0.043000	0.13971	0.306000	0.22856	0.579000	0.79373	GTC		PASS	0.572	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120	Missense_Mutation	42	39	42	39	---	---	---	---
PSMB8	5696	broad.mit.edu	37	6	32808780	32808780	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:32808780C>A	ENST00000374882.3	-	6	837	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	PSMB8_ENST00000395339.3_Missense_Mutation_p.D239Y|TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374897.2_5'Flank|TAP2_ENST00000374899.4_5'Flank|PSMB8_ENST00000374881.2_Missense_Mutation_p.D259Y	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	263					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.D259Y(1)|p.D263Y(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCACTGACATCTGTACTTTCT	0.512																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(787-789)GAT>TAT		proteasome beta 8 subunit isoform E2 proprotein							188.0	156.0	167.0					6																	32808780		2203	4300	6503	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32808780C>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.787G>T	6.37:g.32808780C>A	ENSP00000364016:p.Asp263Tyr					TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.D259Y	p.D263Y	NM_148919	NP_683720	P28062	PSB8_HUMAN			6	830	-			263					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.787G>T	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169564	0.57584	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.37411	1.2;1.2;1.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83755	0.0211	10	0.87932	D	0	-36.6645	16.765	0.85521	0.0:1.0:0.0:0.0	.	259;263	P28062-2;P28062	.;PSB8_HUMAN	Y	239;263;259	ENSP00000378748:D239Y;ENSP00000364016:D263Y;ENSP00000364015:D259Y	ENSP00000364015:D259Y	D	-	1	0	PSMB8	32916758	1.000000	0.71417	0.522000	0.27862	0.023000	0.10783	6.345000	0.72995	2.555000	0.86185	0.643000	0.83706	GAT		PASS	0.512	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		30	29	30	29	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754273	49754273	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:49754273C>A	ENST00000304801.3	-	1	780	c.628G>T	c.(628-630)Gct>Tct	p.A210S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	210					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.A210S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCAAGTATAGCCAGAAAGGGT	0.433																																						uc003ozu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)GCT>TCT		phosphoglycerate kinase 2							117.0	114.0	115.0					6																	49754273		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754273C>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.628G>T	6.37:g.49754273C>A	ENSP00000305995:p.Ala210Ser						p.A210S	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	735	-	Lung NSC(77;0.0402)		210					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.628G>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722809	0.68959	.	.	ENSG00000170950	ENST00000304801	D	0.93133	-3.17	4.09	3.22	0.36961	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	M	0.91038	3.17	0.58432	D	0.999993	P	0.40660	0.726	P	0.59761	0.863	D	0.96052	0.9032	10	0.59425	D	0.04	-14.8736	10.3111	0.43710	0.0:0.9002:0.0:0.0998	.	210	P07205	PGK2_HUMAN	S	210	ENSP00000305995:A210S	ENSP00000305995:A210S	A	-	1	0	PGK2	49862232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.719000	0.54926	1.303000	0.44873	0.585000	0.79938	GCT		PASS	0.433	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			18	51	18	51	---	---	---	---
DST	667	broad.mit.edu	37	6	56334983	56334983	+	Silent	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:56334983A>C	ENST00000361203.3	-	91	21466	c.21459T>G	c.(21457-21459)ctT>ctG	p.L7153L	DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.L5067L|DST_ENST00000370754.5_Silent_p.L7442L|DST_ENST00000370769.4_Silent_p.L7264L|DST_ENST00000446842.2_Silent_p.L6938L|DST_ENST00000421834.2_Silent_p.L5149L|DST_ENST00000244364.6_Silent_p.L4850L			Q03001	DYST_HUMAN	dystonin	7262					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L7237L(1)|p.L4850L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTTGGGTGAAGGGCTGCTA	0.413																																						uc003pdf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(16060-16062)CTT>CTG		dystonin isoform 2							100.0	95.0	96.0					6																	56334983		1919	4131	6050	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56334983A>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21459T>G	6.37:g.56334983A>C						DST_uc003pcz.3_Silent_p.L5176L|DST_uc011dxj.1_Silent_p.L5205L|DST_uc011dxk.1_Silent_p.L5216L|DST_uc003pcy.3_Silent_p.L4850L|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	p.L5354L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		90	16090	-	Lung NSC(77;0.103)		7262			EF-hand 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.16062T>G																																																																																					PASS	0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	17	8	17	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653726	69653726	+	Silent	SNP	C	C	T	rs574714614		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:69653726C>T	ENST00000370598.1	+	6	1856	c.1035C>T	c.(1033-1035)caC>caT	p.H345H		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	345	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H345H(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTACAGTACACGGAGTATGGG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		17353	0.0		0.0	False		,,,				2504	0.001					uc003pev.3																			1	Substitution - coding silent(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1033-1035)CAC>CAT		brain-specific angiogenesis inhibitor 3							192.0	162.0	172.0					6																	69653726		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653726C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1035C>T	6.37:g.69653726C>T						BAI3_uc010kak.2_Silent_p.H345H	p.H345H	NM_001704	NP_001695	O60242	BAI3_HUMAN			6	1483	+		all_lung(197;0.212)	345			Extracellular (Potential).|TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1035C>T	CCDS4968.1																																																																																				PASS	0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			14	56	14	56	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72957822	72957822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:72957822C>T	ENST00000521978.1	+	12	2233	c.2233C>T	c.(2233-2235)Caa>Taa	p.Q745*	RIMS1_ENST00000264839.7_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.Q138*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.Q204*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.Q219*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.Q219*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.Q745*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.Q745*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	745	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.Q745*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTACCAGGGCAACTTTCTGT	0.408																																						uc003pga.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2233-2235)CAA>TAA		regulating synaptic membrane exocytosis 1							106.0	102.0	103.0					6																	72957822		1832	4088	5920	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957822C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2233C>T	6.37:g.72957822C>T	ENSP00000428417:p.Gln745*					RIMS1_uc011dyb.1_Nonsense_Mutation_p.Q371*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.Q371*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.Q219*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.Q219*|RIMS1_uc010kar.2_Nonsense_Mutation_p.Q138*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.Q204*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.Q371*|RIMS1_uc010kas.1_Nonsense_Mutation_p.Q204*	p.Q745*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			12	2310	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	745			C2 1.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.2233C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.871312|9.871312	0.99284|0.99284	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|.	0.75867|.	0.3908|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76745|.	-0.2846|.	4|.	.|0.66056	.|D	.|0.02	-20.1851|-20.1851	20.2786|20.2786	0.98501|0.98501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	318|745;745;745;745;745;745;745;745;745;745;745;745;219;219;138;138;204	.|.	.|ENSP00000264839:Q745X	A|Q	+|+	2|1	0|0	RIMS1|RIMS1	73014543|73014543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.880000|5.880000	0.69698|0.69698	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCA|CAA		PASS	0.408	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			24	47	24	47	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79672829	79672829	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:79672829G>T	ENST00000275034.4	-	30	3687	c.3520C>A	c.(3520-3522)Cag>Aag	p.Q1174K	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1174					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.Q1174K(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)		GTCATCAACTGGTTTATTCCT	0.378																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(3520-3522)CAG>AAG		pleckstrin homology domain interacting protein							291.0	273.0	279.0					6																	79672829		2203	4300	6503	SO:0001583	missense	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.chr6:79672829G>T	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.3520C>A	6.37:g.79672829G>T	ENSP00000275034:p.Gln1174Lys					PHIP_uc003piq.2_Missense_Mutation_p.Q198K|PHIP_uc011dyp.1_Missense_Mutation_p.Q1173K|PHIP_uc003pio.3_Missense_Mutation_p.Q60K	p.Q1174K	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	30	3746	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1174					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3520C>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987967	0.74589	.	.	ENSG00000146247	ENST00000275034	T	0.28069	1.63	5.89	5.89	0.94794	Bromodomain (4);	0.000000	0.64402	D	0.000001	T	0.32041	0.0816	N	0.20845	0.615	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.73708	0.981;0.981	T	0.04320	-1.0960	9	.	.	.	-10.6608	19.2409	0.93883	0.0:0.0:1.0:0.0	.	1174;1174	A7J992;Q8WWQ0	.;PHIP_HUMAN	K	1174	ENSP00000275034:Q1174K	.	Q	-	1	0	PHIP	79729548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.788000	0.95919	0.557000	0.71058	CAG		PASS	0.378	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	156	6	156	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83861601	83861601	+	Splice_Site	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:83861601G>T	ENST00000349129.2	+	29	6164		c.e29-1		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)			p.?(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TATTTTTTTAGGATGTAACTC	0.353																																						uc003pjs.1																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.e29-1		dopey family member 1							86.0	87.0	86.0					6																	83861601		2203	4300	6503	SO:0001630	splice_region_variant	23033				protein transport			g.chr6:83861601G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5905-1G>T	6.37:g.83861601G>T						DOPEY1_uc011dyy.1_Splice_Site_p.D1960_splice|DOPEY1_uc010kbl.1_Splice_Site_p.D1960_splice|DOPEY1_uc003pjt.2_Splice_Site	p.D1969_splice	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	29	6165	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)						Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Splice_Site	SNP	ENST00000349129.2	37	c.5905_splice	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014515	0.54468	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5066	0.95118	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOPEY1	83918320	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	9.381000	0.97205	2.612000	0.88384	0.655000	0.94253	.		PASS	0.353	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	Intron	5	61	5	61	---	---	---	---
ORC3	23595	broad.mit.edu	37	6	88362927	88362927	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:88362927G>C	ENST00000392844.3	+	14	1524	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.K492N|ORC3_ENST00000546266.1_Missense_Mutation_p.K349N	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	492					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.K492N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						GCACAGCTAAGAGAATAGAGG	0.408																																						uc003pmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)AAG>AAC		origin recognition complex, subunit 3 isoform 2							97.0	94.0	95.0					6																	88362927		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88362927G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1476G>C	6.37:g.88362927G>C	ENSP00000376586:p.Lys492Asn					ORC3L_uc011dzl.1_Missense_Mutation_p.K492N|ORC3L_uc011dzm.1_Missense_Mutation_p.K492N|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.K492N|ORC3L_uc003pmi.2_Missense_Mutation_p.K454N|ORC3L_uc011dzo.1_Missense_Mutation_p.K349N|ORC3L_uc011dzp.1_Missense_Mutation_p.K349N	p.K492N	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	14	1520	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	492					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1476G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803813	0.50315	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.12465	3.03;3.01;2.68	5.71	3.89	0.44902	.	0.512495	0.21700	N	0.070423	T	0.04318	0.0119	L	0.47716	1.5	0.31337	N	0.684127	P;P;B;B;B	0.36683	0.565;0.565;0.112;0.282;0.404	B;B;B;B;B	0.36335	0.156;0.205;0.093;0.111;0.222	T	0.37798	-0.9690	10	0.19147	T	0.46	-3.3909	9.1823	0.37149	0.0801:0.1477:0.7722:0.0	.	492;492;430;492;492	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	N	492;492;349	ENSP00000376586:K492N;ENSP00000257789:K492N;ENSP00000444695:K349N	ENSP00000257789:K492N	K	+	3	2	ORC3	88419646	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.473000	0.35387	0.726000	0.32339	0.655000	0.94253	AAG		PASS	0.408	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			16	72	16	72	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90387321	90387321	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:90387321G>T	ENST00000369393.3	-	76	12622	c.12507C>A	c.(12505-12507)tcC>tcA	p.S4169S	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.S4169S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4169					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S4169S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTGACGATGGACAATGCGC	0.438																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(12505-12507)TCC>TCA		MDN1, midasin homolog							145.0	141.0	142.0					6																	90387321		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90387321G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12507C>A	6.37:g.90387321G>T							p.S4169S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	76	12623	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4169					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.12507C>A	CCDS5024.1																																																																																				PASS	0.438	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	57	5	57	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106547368	106547368	+	Missense_Mutation	SNP	G	G	C	rs572233387		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:106547368G>C	ENST00000369096.4	+	4	839	c.605G>C	c.(604-606)cGg>cCg	p.R202P	PRDM1_ENST00000369089.3_Missense_Mutation_p.R68P|PRDM1_ENST00000369091.2_Missense_Mutation_p.R166P|RP1-134E15.3_ENST00000602426.1_RNA	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	202					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R166P(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGGTATTGTCGGGACTTTGCA	0.453			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(604-606)CGG>CCG		PR domain containing 1, with ZNF domain isoform							97.0	84.0	88.0					6																	106547368		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106547368G>C		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.605G>C	6.37:g.106547368G>C	ENSP00000358092:p.Arg202Pro					PRDM1_uc003pre.2_Missense_Mutation_p.R68P	p.R202P	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	4	839	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	202			SET.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.605G>C	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884170	0.33255	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.94	5.07	0.68467	SET domain (2);	0.260617	0.38663	N	0.001612	T	0.73992	0.3658	N	0.17764	0.52	0.51233	D	0.999911	B;B	0.21071	0.008;0.051	B;B	0.16289	0.005;0.015	T	0.71686	-0.4518	10	0.45353	T	0.12	-21.577	14.5659	0.68176	0.0694:0.0:0.9306:0.0	.	68;202	Q86WM7;O75626	.;PRDM1_HUMAN	P	166;202;166;81;68	ENSP00000358087:R166P;ENSP00000358092:R202P;ENSP00000399772:R81P;ENSP00000358085:R68P	ENSP00000358085:R68P	R	+	2	0	PRDM1	106654061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.392000	0.52537	2.820000	0.97059	0.650000	0.86243	CGG		PASS	0.453	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			13	31	13	31	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152746534	152746534	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:152746534G>T	ENST00000367255.5	-	39	5850	c.5249C>A	c.(5248-5250)cCa>cAa	p.P1750Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.P1757Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.P1750Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.P1787Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.P1757Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1750					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.P1750Q(2)|p.P1757Q(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)		AATGATCTGTGGTAAATCTCT	0.313										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5248-5250)CCA>CAA		spectrin repeat containing, nuclear envelope 1							148.0	144.0	146.0					6																	152746534		2203	4300	6503	SO:0001583	missense	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.chr6:152746534G>T	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.5249C>A	6.37:g.152746534G>T	ENSP00000356224:p.Pro1750Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.P1757Q|SYNE1_uc003qou.3_Missense_Mutation_p.P1750Q|SYNE1_uc010kjb.1_Missense_Mutation_p.P1733Q	p.P1750Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	39	5851	-		Ovarian(120;0.0955)	1750			Spectrin 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5249C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656148	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000009	T	0.40767	0.1130	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;0.99;0.996	D;P;P;P	0.71870	0.975;0.67;0.67;0.854	T	0.05733	-1.0867	10	0.12766	T	0.61	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	1733;1750;1750;1757	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	1750;1757;1750;1757;1787	ENSP00000356224:P1750Q;ENSP00000396024:P1757Q;ENSP00000265368:P1750Q;ENSP00000390975:P1757Q;ENSP00000341887:P1787Q	ENSP00000265368:P1750Q	P	-	2	0	SYNE1	152788227	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	7.241000	0.78201	2.701000	0.92244	0.637000	0.83480	CCA		PASS	0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	41	4	41	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161507647	161507647	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:161507647C>T	ENST00000392142.4	+	9	2652	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S835L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S835L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S835L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	835					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S835L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCAGGCTTTCAGCCCCAGTT	0.358																																						uc003qtn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(2503-2505)TCA>TTA		mitogen-activated protein kinase kinase kinase 4							70.0	68.0	69.0					6																	161507647		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161507647C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2504C>T	6.37:g.161507647C>T	ENSP00000375986:p.Ser835Leu					MAP3K4_uc010kkc.1_Missense_Mutation_p.S835L|MAP3K4_uc003qto.2_Missense_Mutation_p.S835L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S288L	p.S835L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	9	2646	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	835					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2504C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306667	0.81247	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.28	5.28	0.74379	.	0.175509	0.39687	N	0.001291	T	0.58652	0.2137	L	0.47716	1.5	0.32781	N	0.502433	B;B;B	0.29481	0.199;0.204;0.245	B;B;B	0.33620	0.167;0.115;0.08	T	0.63265	-0.6676	10	0.51188	T	0.08	-11.0362	19.2757	0.94030	0.0:1.0:0.0:0.0	.	835;835;835	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	L	835	ENSP00000355886:S835L;ENSP00000375986:S835L;ENSP00000355887:S835L;ENSP00000297332:S835L	ENSP00000297332:S835L	S	+	2	0	MAP3K4	161427637	0.995000	0.38212	0.065000	0.19835	0.923000	0.55619	6.576000	0.74023	2.624000	0.88883	0.650000	0.86243	TCA		PASS	0.358	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			13	29	13	29	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352184	5352184	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:5352184C>A	ENST00000430969.1	-	27	8686	c.8338G>T	c.(8338-8340)Gcc>Tcc	p.A2780S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2780S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2780							chromatin binding (GO:0003682)	p.A2780S(2)|p.P1292P(2)|p.A2780T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCAGGAAGGCGGCGATCTTG	0.711																																						uc003soi.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(3)|endometrium(3)		0						c.(8338-8340)GCC>TCC		trinucleotide repeat containing 18							37.0	41.0	40.0					7																	5352184		1567	3573	5140	SO:0001583	missense	84629						DNA binding	g.chr7:5352184C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8338G>T	7.37:g.5352184C>A	ENSP00000395538:p.Ala2780Ser						p.A2780S	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8687	-		Ovarian(82;0.142)	2780					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8338G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	17.94	3.511368	0.64522	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.13538	2.58;2.59	4.05	4.05	0.47172	.	.	.	.	.	T	0.29914	0.0748	L	0.42245	1.32	0.50313	D	0.999867	D	0.76494	0.999	D	0.81914	0.995	T	0.04737	-1.0930	9	0.54805	T	0.06	.	16.5461	0.84446	0.0:1.0:0.0:0.0	.	2780	O15417	TNC18_HUMAN	S	2780	ENSP00000382452:A2780S;ENSP00000395538:A2780S	ENSP00000382452:A2780S	A	-	1	0	TNRC18	5318710	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.509000	0.67012	1.933000	0.56026	0.305000	0.20034	GCC		PASS	0.711	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	13	4	13	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7636041	7636041	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:7636041C>A	ENST00000340080.4	+	11	2771	c.2350C>A	c.(2350-2352)Cga>Aga	p.R784R	MIOS_ENST00000405785.1_Silent_p.R784R	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	784						lysosomal membrane (GO:0005765)		p.R784R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCACTTCCTCGATGTGCGCT	0.413																																						uc003srf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2350-2352)CGA>AGA		missing oocyte, meiosis regulator, homolog							177.0	170.0	172.0					7																	7636041		1967	4146	6113	SO:0001819	synonymous_variant	54468							g.chr7:7636041C>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2350C>A	7.37:g.7636041C>A						MIOS_uc003srg.2_Silent_p.R319R|MIOS_uc010ktq.2_Silent_p.R179R	p.R784R	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2658	+			784					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2350C>A	CCDS43554.1																																																																																				PASS	0.413	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		4	85	4	85	---	---	---	---
HOXA13	3209	broad.mit.edu	37	7	27237878	27237878	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:27237878C>A	ENST00000222753.4	-	2	1134	c.1106G>T	c.(1105-1107)tGg>tTg	p.W369L	HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOXA13_ENST00000518136.3_5'Flank	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	369					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.W369L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTCTGGAACCAGATTGTGAC	0.423			T	NUP98	AML																																	uc003szb.1				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1105-1107)TGG>TTG		homeobox A13							188.0	197.0	194.0					7																	27237878		2203	4300	6503	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237878C>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1106G>T	7.37:g.27237878C>A	ENSP00000222753:p.Trp369Leu					uc003szc.1_5'Flank	p.W369L	NM_000522	NP_000513	P31271	HXA13_HUMAN			2	1135	-			369			Homeobox.		A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.1106G>T	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297297	0.81025	.	.	ENSG00000106031	ENST00000222753	D	0.99820	-6.93	5.57	5.57	0.84162	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95936	0.8942	10	0.87932	D	0	.	19.1476	0.93475	0.0:1.0:0.0:0.0	.	369	P31271	HXA13_HUMAN	L	369	ENSP00000222753:W369L	ENSP00000222753:W369L	W	-	2	0	HOXA13	27204403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	TGG		PASS	0.423	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			6	93	6	93	---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45115438	45115438	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:45115438G>T	ENST00000258781.6	+	10	1266	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	CCM2_ENST00000381112.3_Missense_Mutation_p.G394C|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Missense_Mutation_p.G315C|CCM2_ENST00000474617.1_Missense_Mutation_p.G276C|CCM2_ENST00000475551.1_Missense_Mutation_p.G367C|CCM2_ENST00000544363.1_Missense_Mutation_p.G282C	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	373	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)		p.G394C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGAGACCATTGGCGTGAAGGA	0.602																																						uc003tmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GGC>TGC		cerebral cavernous malformation 2 isoform 2							94.0	79.0	84.0					7																	45115438		2203	4300	6503	SO:0001583	missense	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45115438G>T	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.1117G>T	7.37:g.45115438G>T	ENSP00000258781:p.Gly373Cys					CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.G315C|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.G282C|CCM2_uc003tms.2_Missense_Mutation_p.G394C	p.G373C	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			10	1263	+			373					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.1117G>T	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888349	0.72524	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	4.78	3.9	0.45041	.	0.053365	0.85682	D	0.000000	T	0.54565	0.1866	M	0.78801	2.425	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;1.0;1.0;0.995	P;D;D;P	0.97110	0.874;1.0;1.0;0.874	T	0.59726	-0.7400	10	0.87932	D	0	-32.0962	11.8153	0.52207	0.0863:0.0:0.9137:0.0	.	394;282;315;373	E9PDJ3;F5H0E1;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	C	373;315;282;367;394;276	ENSP00000258781:G373C;ENSP00000444725:G315C;ENSP00000438035:G282C;ENSP00000417180:G367C;ENSP00000370503:G394C;ENSP00000419474:G276C	ENSP00000258781:G373C	G	+	1	0	CCM2	45081963	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	7.852000	0.86927	1.242000	0.43836	0.455000	0.32223	GGC		PASS	0.602	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		4	26	4	26	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73803542	73803542	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:73803542C>T	ENST00000395060.1	+	12	2673	c.2673C>T	c.(2671-2673)gcC>gcT	p.A891A	CLIP2_ENST00000361545.5_Silent_p.A856A|CLIP2_ENST00000223398.6_Silent_p.A891A			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	891						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.A856A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGACGCCTCGGGCCAGC	0.677																																						uc003uam.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(2671-2673)GCC>GCT		CAP-GLY domain containing linker protein 2							30.0	28.0	29.0					7																	73803542		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73803542C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2673C>T	7.37:g.73803542C>T						CLIP2_uc003uan.2_Silent_p.A856A	p.A891A	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			13	3000	+			891			Potential.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.2673C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274546	0.23307	.	.	ENSG00000106665	ENST00000493166	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.63827	0.2544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62946	-0.6746	4	.	.	.	-18.8168	12.5046	0.55973	0.0:0.8305:0.1695:0.0	.	.	.	.	L	141	.	.	P	+	2	0	CLIP2	73441478	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	0.597000	0.24059	2.085000	0.62840	0.655000	0.94253	CCT		PASS	0.677	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		3	15	3	15	---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73929890	73929890	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:73929890C>T	ENST00000265755.3	+	4	778	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R129W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R129W|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R161W	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	129					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R129W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTACCTTCTGCGGAAGATGGT	0.602																																						uc003uaq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(385-387)CGG>TGG		GTF2I repeat domain containing 1 isoform 1							115.0	88.0	97.0					7																	73929890		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73929890C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.385C>T	7.37:g.73929890C>T	ENSP00000265755:p.Arg129Trp					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R161W|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R129W|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R129W	p.R129W	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			4	778	+			129			GTF2I-like 1.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.385C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020877	0.75275	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.97	4.03	0.46877	.	0.052077	0.64402	D	0.000001	T	0.72137	0.3423	M	0.79693	2.465	0.51482	D	0.999924	D;D;D;D	0.89917	1.0;0.999;1.0;0.996	D;D;D;P	0.85130	0.997;0.956;0.99;0.88	T	0.75340	-0.3352	10	0.54805	T	0.06	-11.7068	13.9257	0.63961	0.2031:0.7969:0.0:0.0	.	161;129;129;129	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	W	129;161;129;129	ENSP00000265755:R129W;ENSP00000397566:R161W;ENSP00000408477:R129W;ENSP00000418383:R129W	ENSP00000265755:R129W	R	+	1	2	GTF2IRD1	73567826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.323000	0.52014	2.474000	0.83562	0.511000	0.50034	CGG		PASS	0.602	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		8	23	8	23	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112361	76112361	+	Missense_Mutation	SNP	G	G	C	rs559156215		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:76112361G>C	ENST00000324432.5	+	5	1315	c.805G>C	c.(805-807)Gca>Cca	p.A269P	DTX2_ENST00000446600.1_Missense_Mutation_p.A178P|DTX2_ENST00000413936.2_Missense_Mutation_p.A269P|DTX2_ENST00000430490.2_Missense_Mutation_p.A269P|DTX2_ENST00000307569.8_Missense_Mutation_p.A269P|DTX2_ENST00000446820.2_Missense_Mutation_p.A269P	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	269					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A269P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CGCCTGGGGCGCAGCTCCTCC	0.672																																						uc003uff.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(805-807)GCA>CCA		deltex 2 isoform a							45.0	54.0	51.0					7																	76112361		2203	4299	6502	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112361G>C		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.805G>C	7.37:g.76112361G>C	ENSP00000322885:p.Ala269Pro					DTX2_uc011kgk.1_Missense_Mutation_p.A178P|DTX2_uc003ufg.3_Missense_Mutation_p.A269P|DTX2_uc003ufh.3_Missense_Mutation_p.A269P|DTX2_uc003ufj.3_Missense_Mutation_p.A269P	p.A269P	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	1361	+			269					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.805G>C	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	3.145	-0.175385	0.06421	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.13307	2.68;2.6;2.69;2.68;2.68;2.6	4.79	2.65	0.31530	.	0.669254	0.14234	N	0.332504	T	0.08980	0.0222	L	0.36672	1.1	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.17776	-1.0358	10	0.40728	T	0.16	-6.6527	1.9966	0.03458	0.117:0.1833:0.4762:0.2235	.	178;269;269	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	P	269;269;178;178;269;269;269	ENSP00000322885:A269P;ENSP00000305242:A269P;ENSP00000397648:A178P;ENSP00000390218:A269P;ENSP00000411986:A269P;ENSP00000392545:A269P	ENSP00000305242:A269P	A	+	1	0	AC005522.1	75950297	0.000000	0.05858	0.011000	0.14972	0.026000	0.11368	0.117000	0.15583	2.227000	0.72691	0.561000	0.74099	GCA		PASS	0.672	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			14	43	14	43	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81388038	81388038	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:81388038C>T	ENST00000222390.5	-	3	563	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	HGF_ENST00000423064.2_Missense_Mutation_p.G113S|HGF_ENST00000453018.1_Missense_Mutation_p.G10S|HGF_ENST00000354224.6_Missense_Mutation_p.G113S|HGF_ENST00000457544.2_Missense_Mutation_p.G113S|HGF_ENST00000453411.1_Missense_Mutation_p.G113S|HGF_ENST00000444829.2_Missense_Mutation_p.G113S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	113	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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.G113S(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						AATTCATGGCCAAATTCTTTT	0.323																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(337-339)GGC>AGC		hepatocyte growth factor isoform 1							106.0	105.0	106.0					7																	81388038		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.chr7:81388038C>T		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.337G>A	7.37:g.81388038C>T	ENSP00000222390:p.Gly113Ser					HGF_uc003uhm.2_Missense_Mutation_p.G113S|HGF_uc003uhn.1_Missense_Mutation_p.G113S|HGF_uc003uho.1_Missense_Mutation_p.G113S|HGF_uc003uhp.2_Missense_Mutation_p.G113S	p.G113S	NM_000601	NP_000592	P14210	HGF_HUMAN			3	502	-			113			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.337G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770416	0.49680	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.56;0.1;0.1	5.16	5.16	0.70880	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.142736	0.64402	D	0.000009	T	0.50137	0.1598	N	0.14661	0.345	0.36305	D	0.857306	D;B;B;B;B	0.58268	0.982;0.049;0.216;0.009;0.312	P;B;B;B;B	0.59825	0.864;0.118;0.294;0.027;0.299	T	0.50056	-0.8872	10	0.02654	T	1	.	13.019	0.58775	0.0:0.9221:0.0:0.0779	.	148;113;113;113;113	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	S	113;113;113;113;113;113;113;10;113;113	ENSP00000222390:G113S;ENSP00000391238:G113S;ENSP00000389854:G113S;ENSP00000408270:G113S;ENSP00000413829:G113S;ENSP00000346164:G113S;ENSP00000395468:G10S;ENSP00000396307:G113S;ENSP00000388592:G113S	ENSP00000222390:G113S	G	-	1	0	HGF	81225974	1.000000	0.71417	0.937000	0.37676	0.822000	0.46500	4.391000	0.59652	2.405000	0.81733	0.467000	0.42956	GGC		PASS	0.323	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		10	43	10	43	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94178901	94178901	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:94178901A>T	ENST00000297273.4	+	14	2057	c.1770A>T	c.(1768-1770)aaA>aaT	p.K590N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	590						integral component of membrane (GO:0016021)		p.K590N(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGAACTGAAAGGGAATGTAT	0.333																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1768-1770)AAA>AAT		CAS1 domain containing 1 precursor							217.0	207.0	210.0					7																	94178901		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94178901A>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1770A>T	7.37:g.94178901A>T	ENSP00000297273:p.Lys590Asn					CASD1_uc003unj.3_Missense_Mutation_p.K590N	p.K590N	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		14	1997	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		590					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1770A>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028860	0.35797	.	.	ENSG00000127995	ENST00000297273	T	0.44482	0.92	5.35	1.46	0.22682	.	0.219812	0.44285	D	0.000467	T	0.12433	0.0302	N	0.00760	-1.21	0.29527	N	0.853085	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12041	-1.0563	10	0.41790	T	0.15	.	5.7945	0.18379	0.375:0.1196:0.0:0.5054	.	590;590	Q8WZ77;Q96PB1	.;CASD1_HUMAN	N	590	ENSP00000297273:K590N	ENSP00000297273:K590N	K	+	3	2	CASD1	94016837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.723000	0.25939	0.943000	0.37553	0.533000	0.62120	AAA		PASS	0.333	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		27	110	27	110	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97800947	97800947	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:97800947C>T	ENST00000297293.5	+	7	1045	c.752C>T	c.(751-753)gCg>gTg	p.A251V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.A251V(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGGTCGCCGCGGGGCTGGCC	0.672																																						uc003upd.1																			2	Substitution - Missense(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(751-753)GCG>GTG		lemur tyrosine kinase 2 precursor							38.0	37.0	38.0					7																	97800947		2201	4296	6497	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97800947C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.752C>T	7.37:g.97800947C>T	ENSP00000297293:p.Ala251Val						p.A251V	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			7	1045	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		251			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.752C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468853	0.84533	.	.	ENSG00000164715	ENST00000297293	D	0.83163	-1.69	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.69248	2.105	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.90365	0.4376	10	0.59425	D	0.04	.	16.3672	0.83338	0.0:1.0:0.0:0.0	.	251	Q8IWU2	LMTK2_HUMAN	V	251	ENSP00000297293:A251V	ENSP00000297293:A251V	A	+	2	0	LMTK2	97638883	0.996000	0.38824	0.982000	0.44146	0.605000	0.37080	4.623000	0.61247	2.542000	0.85734	0.655000	0.94253	GCG		PASS	0.672	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		20	22	20	22	---	---	---	---
TFEC	22797	broad.mit.edu	37	7	115594691	115594691	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:115594691C>T	ENST00000265440.7	-	5	568	c.388G>A	c.(388-390)Gac>Aac	p.D130N	TFEC_ENST00000320239.7_Missense_Mutation_p.D101N|TFEC_ENST00000484212.1_Missense_Mutation_p.D220N|TFEC_ENST00000393485.1_Missense_Mutation_p.D101N|TFEC_ENST00000457268.1_Missense_Mutation_p.D63N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	130					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D130N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCTCTAGTGTCAGTTTCTGAT	0.318																																						uc003vhj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(388-390)GAC>AAC		transcription factor EC isoform a							124.0	120.0	121.0					7																	115594691		2201	4299	6500	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115594691C>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.388G>A	7.37:g.115594691C>T	ENSP00000265440:p.Asp130Asn					TFEC_uc003vhk.1_Missense_Mutation_p.D101N|TFEC_uc003vhl.3_Missense_Mutation_p.D101N|TFEC_uc011kmw.1_Missense_Mutation_p.D220N	p.D130N	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	572	-			130			Basic motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.388G>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012270	0.93346	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T;T	0.18960	2.18;2.48;2.21;2.49;2.47	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.998	T	0.40421	-0.9564	10	0.72032	D	0.01	-16.7322	20.1225	0.97967	0.0:1.0:0.0:0.0	.	220;101;101;130	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	N	130;63;101;101;220	ENSP00000265440:D130N;ENSP00000387650:D63N;ENSP00000318676:D101N;ENSP00000377125:D101N;ENSP00000417432:D220N	ENSP00000265440:D130N	D	-	1	0	TFEC	115381927	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.491000	0.73649	2.831000	0.97527	0.650000	0.86243	GAC		PASS	0.318	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		6	34	6	34	---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128806698	128806698	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:128806698G>T	ENST00000289407.4	+	6	648	c.539G>T	c.(538-540)cGa>cTa	p.R180L	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	180					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.R180L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						AACCCCAGTCGAGAGCGCTGC	0.527																																						uc003vop.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)CGA>CTA		tetraspanin 33							280.0	249.0	260.0					7																	128806698		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128806698G>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.539G>T	7.37:g.128806698G>T	ENSP00000289407:p.Arg180Leu					TSPAN33_uc003voq.1_Missense_Mutation_p.R12L	p.R180L	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			6	768	+			180			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289407.4	37	c.539G>T	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626322	0.46840	.	.	ENSG00000158457	ENST00000289407	T	0.32988	1.43	5.68	5.68	0.88126	Tetraspanin, EC2 domain (1);	0.172661	0.47852	D	0.000205	T	0.29945	0.0749	L	0.42686	1.345	0.54753	D	0.999989	B	0.23990	0.095	B	0.32211	0.142	T	0.06679	-1.0813	10	0.10111	T	0.7	-23.5184	17.2797	0.87125	0.0:0.0:1.0:0.0	.	180	Q86UF1	TSN33_HUMAN	L	180	ENSP00000289407:R180L	ENSP00000289407:R180L	R	+	2	0	TSPAN33	128593934	0.990000	0.36364	1.000000	0.80357	0.983000	0.72400	2.953000	0.49105	2.663000	0.90544	0.655000	0.94253	CGA		PASS	0.527	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		7	283	7	283	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131883284	131883284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:131883284C>A	ENST00000359827.3	-	13	3660	c.2698G>T	c.(2698-2700)Gag>Tag	p.E900*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.E900*			Q9HCM2	PLXA4_HUMAN	plexin A4	900	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E900*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCTGCACTCCACGCCAGCA	0.577																																						uc003vra.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2698-2700)GAG>TAG		plexin A4 isoform 1							70.0	72.0	71.0					7																	131883284		2015	4186	6201	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883284C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2698G>T	7.37:g.131883284C>A	ENSP00000352882:p.Glu900*						p.E900*	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			13	2927	-			900			IPT/TIG 1.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.2698G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	43	9.867083	0.99283	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.94	5.94	0.96194	.	0.205811	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	13.5506	0.61730	0.0:0.9292:0.0:0.0708	.	.	.	.	X	900	.	ENSP00000323194:E900X	E	-	1	0	PLXNA4	131533824	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.493000	0.45320	2.820000	0.97059	0.650000	0.86243	GAG		PASS	0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		25	30	25	30	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138819449	138819449	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:138819449G>A	ENST00000464848.1	+	2	132	c.52G>A	c.(52-54)Gac>Aac	p.D18N	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.D18N|TTC26_ENST00000474035.2_Missense_Mutation_p.D18N|TTC26_ENST00000478836.2_Missense_Mutation_p.D18N|TTC26_ENST00000343187.4_Missense_Mutation_p.D18N|TTC26_ENST00000430935.1_Missense_Mutation_p.D18N			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	18					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.D18N(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ACAGCACACTGACAAAAGAAA	0.413																																						uc003vus.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)	1						c.(52-54)GAC>AAC		tetratricopeptide repeat domain 26 isoform 1							70.0	66.0	68.0					7																	138819449		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138819449G>A	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.52G>A	7.37:g.138819449G>A	ENSP00000419279:p.Asp18Asn					TTC26_uc003vuq.2_Missense_Mutation_p.D18N|TTC26_uc011kqm.1_Missense_Mutation_p.D18N|TTC26_uc003vur.3_Missense_Mutation_p.D18N|TTC26_uc011kqn.1_Missense_Mutation_p.D18N|TTC26_uc011kqo.1_Missense_Mutation_p.D18N|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.D18N	p.D18N	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			2	166	+			18					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.52G>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647361	0.29246	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.42900	0.99;0.97;0.97;0.99;0.96	5.87	4.09	0.47781	.	0.441905	0.25968	N	0.027147	T	0.29976	0.0750	L	0.44542	1.39	0.40828	D	0.983565	B;P;P;B;B;B;B	0.36535	0.099;0.557;0.454;0.0;0.421;0.192;0.382	B;B;B;B;B;B;B	0.31191	0.06;0.125;0.016;0.0;0.059;0.05;0.033	T	0.05683	-1.0870	10	0.17369	T	0.5	.	11.2635	0.49097	0.1482:0.0:0.8518:0.0	.	18;18;18;18;18;18;18	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	N	18	ENSP00000410655:D18N;ENSP00000418788:D18N;ENSP00000419178:D18N;ENSP00000419279:D18N;ENSP00000339135:D18N	ENSP00000339135:D18N	D	+	1	0	TTC26	138469989	1.000000	0.71417	0.476000	0.27291	0.754000	0.42855	4.309000	0.59135	0.835000	0.34877	0.650000	0.86243	GAC		PASS	0.413	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		29	41	29	41	---	---	---	---
ACTR3B	57180	broad.mit.edu	37	7	152517413	152517413	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr7:152517413C>G	ENST00000256001.8	+	7	704	c.570C>G	c.(568-570)atC>atG	p.I190M	ACTR3B_ENST00000397282.2_Missense_Mutation_p.I102M|ACTR3B_ENST00000537264.1_Missense_Mutation_p.I102M|ACTR3B_ENST00000377776.3_Missense_Mutation_p.I190M	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	190						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I190M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAAGCTGCATCAAACACATCC	0.502																																						uc003wle.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)ATC>ATG		actin-related protein 3-beta isoform 1							35.0	31.0	32.0					7																	152517413		2202	4280	6482	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152517413C>G		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.570C>G	7.37:g.152517413C>G	ENSP00000256001:p.Ile190Met					ACTR3B_uc003wlf.1_Missense_Mutation_p.I190M|ACTR3B_uc003wlg.1_Missense_Mutation_p.I102M|ACTR3B_uc011kvp.1_Missense_Mutation_p.I102M	p.I190M	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	7	687	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	190					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.570C>G	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763056	0.49574	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000006	D	0.96306	0.8795	H	0.95611	3.695	0.36902	D	0.890473	P;P	0.49185	0.92;0.598	P;P	0.47430	0.535;0.547	D	0.98329	1.0532	10	0.72032	D	0.01	.	10.1933	0.43039	0.0:0.9079:0.0:0.0921	.	190;190	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	M	190;190;102;102	ENSP00000367007:I190M;ENSP00000256001:I190M;ENSP00000380452:I102M;ENSP00000446157:I102M	ENSP00000256001:I190M	I	+	3	3	ACTR3B	152148346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.780000	0.26760	2.197000	0.70478	0.491000	0.48974	ATC		PASS	0.502	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		14	24	14	24	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3216692	3216692	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:3216692G>T	ENST00000520002.1	-	22	3844	c.3289C>A	c.(3289-3291)Cct>Act	p.P1097T	CSMD1_ENST00000542608.1_Missense_Mutation_p.P1096T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1097T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1096T|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1096T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1097T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1097T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1097	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P1096T(1)|p.P825T(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)		CTTGGCAGAGGTGCACTCCAC	0.587																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3289-3291)CCT>ACT		CUB and Sushi multiple domains 1 precursor							70.0	73.0	72.0					8																	3216692		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216692G>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.3289C>A	8.37:g.3216692G>T	ENSP00000430733:p.Pro1097Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.P489T|CSMD1_uc003wqe.2_Missense_Mutation_p.P253T	p.P1097T	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)	21	3679	-		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)	1097			Sushi 6.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3289C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.74|13.74	2.328792|2.328792	0.41197|0.41197	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18|.	5.34|5.34	3.54|3.54	0.40534|0.40534	Complement control module (2);Sushi/SCR/CCP (3);|.	0.306328|.	0.31612|.	N|.	0.007345|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.69823|0.69823	2.125|2.125	0.40715|0.40715	D|D	0.982604|0.982604	D;B;B|.	0.89917|.	1.0;0.009;0.004|.	D;B;B|.	0.91635|.	0.999;0.057;0.034|.	T|T	0.67898|0.67898	-0.5551|-0.5551	10|5	0.72032|.	D|.	0.01|.	.|.	11.2634|11.2634	0.49095|0.49095	0.0694:0.127:0.8037:0.0|0.0694:0.127:0.8037:0.0	.|.	1097;1097;1097|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	T|N	1097;1097;959;1096;1096;1096|576	ENSP00000383047:P1097T;ENSP00000430733:P1097T;ENSP00000441462:P1096T;ENSP00000446243:P1096T;ENSP00000441675:P1096T|.	ENSP00000320445:P959T|.	P|T	-|-	1|2	0|0	CSMD1|CSMD1	3204099|3204099	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	3.525000|3.525000	0.53502|0.53502	0.622000|0.622000	0.30249|0.30249	0.550000|0.550000	0.68814|0.68814	CCT|ACC		PASS	0.587	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		16	32	16	32	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3889546	3889546	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:3889546C>G	ENST00000520002.1	-	4	1046	c.491G>C	c.(490-492)gGa>gCa	p.G164A	CSMD1_ENST00000542608.1_Missense_Mutation_p.G164A|CSMD1_ENST00000602557.1_Missense_Mutation_p.G164A|CSMD1_ENST00000537824.1_Missense_Mutation_p.G164A|CSMD1_ENST00000539096.1_Missense_Mutation_p.G164A|CSMD1_ENST00000602723.1_Missense_Mutation_p.G164A|CSMD1_ENST00000400186.3_Missense_Mutation_p.G164A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	164	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G164A(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)		GATTTTGTCTCCTATGTTGAA	0.488																																						uc011kwk.1																			1	Substitution - Missense(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(490-492)GGA>GCA		CUB and Sushi multiple domains 1 precursor							114.0	125.0	121.0					8																	3889546		2104	4235	6339	SO:0001583	missense	64478					integral to membrane		g.chr8:3889546C>G			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.491G>C	8.37:g.3889546C>G	ENSP00000430733:p.Gly164Ala						p.G164A	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)	4	881	-		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)	164			Extracellular (Potential).|Sushi 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.491G>C		.	.	.	.	.	.	.	.	.	.	C	28.5	4.923654	0.92319	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.52	5.52	0.82312	.	0.000000	0.47455	U	0.000235	D	0.90820	0.7117	H	0.98407	4.225	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.93874	0.7165	10	0.62326	D	0.03	.	18.4147	0.90565	0.0:1.0:0.0:0.0	.	164	E5RIG2	.	A	164;164;26;164;164;164	ENSP00000383047:G164A;ENSP00000430733:G164A;ENSP00000441462:G164A;ENSP00000446243:G164A;ENSP00000441675:G164A	ENSP00000320445:G26A	G	-	2	0	CSMD1	3876954	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.558000	0.82253	2.612000	0.88384	0.655000	0.94253	GGA		PASS	0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		15	27	15	27	---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38257911	38257911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:38257911C>A	ENST00000379957.4	+	5	894	c.767C>A	c.(766-768)tCa>tAa	p.S256*	LETM2_ENST00000297720.5_Nonsense_Mutation_p.S161*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.S42*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S209*|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Nonsense_Mutation_p.S208*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	256	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.S256*(1)|p.S161*(1)		NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ACACAGCTCTCATCCTACGTG	0.453																																						uc003xlm.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(625-627)TCA>TAA		leucine zipper-EF-hand containing transmembrane							136.0	110.0	118.0					8																	38257911		2203	4300	6503	SO:0001587	stop_gained	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38257911C>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.767C>A	8.37:g.38257911C>A	ENSP00000369291:p.Ser256*					LETM2_uc011lbn.1_Nonsense_Mutation_p.S53*|LETM2_uc003xll.1_Nonsense_Mutation_p.S161*|LETM2_uc003xln.1_Nonsense_Mutation_p.S53*|LETM2_uc003xlo.1_Nonsense_Mutation_p.S53*	p.S209*	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		5	797	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	256			LETM1.|Mitochondrial matrix (Potential).		A6NMG3|Q8NCR2|Q96LL1	Nonsense_Mutation	SNP	ENST00000379957.4	37	c.626C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.135766	0.77662	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1639	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	161;208;256;209;42	.	ENSP00000297720:S161X	S	+	2	0	LETM2	38377068	1.000000	0.71417	0.315000	0.25238	0.011000	0.07611	5.586000	0.67503	2.735000	0.93741	0.555000	0.69702	TCA		PASS	0.453	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		11	466	11	466	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59514692	59514692	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:59514692C>A	ENST00000038176.3	-	14	1262	c.1050G>T	c.(1048-1050)ttG>ttT	p.L350F	NSMAF_ENST00000427130.2_Missense_Mutation_p.L381F|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	350	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.L381F(1)|p.L350F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGGATTTGACAAATCTATAA	0.368																																						uc003xtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1048-1050)TTG>TTT		neutral sphingomyelinase (N-SMase) activation							85.0	88.0	87.0					8																	59514692		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59514692C>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1050G>T	8.37:g.59514692C>A	ENSP00000038176:p.Leu350Phe					NSMAF_uc011lee.1_Missense_Mutation_p.L381F|NSMAF_uc003xtu.2_Missense_Mutation_p.L350F	p.L350F	NM_003580	NP_003571	Q92636	FAN_HUMAN			14	1264	-		all_lung(136;0.174)|Lung NSC(129;0.2)	350			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1050G>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236173	0.79800	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.82893	-1.66;-1.66	5.96	5.96	0.96718	BEACH domain (4);	0.183667	0.49305	D	0.000150	D	0.90693	0.7080	M	0.81179	2.53	0.51233	D	0.99991	D;D;D	0.76494	0.994;0.998;0.999	D;D;D	0.76071	0.937;0.987;0.987	D	0.90569	0.4521	9	.	.	.	.	13.5885	0.61946	0.0:0.9293:0.0:0.0707	.	381;350;350	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	F	350;381	ENSP00000038176:L350F;ENSP00000411012:L381F	.	L	-	3	2	NSMAF	59677246	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.843000	0.55865	2.814000	0.96858	0.655000	0.94253	TTG		PASS	0.368	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		23	62	23	62	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765798	61765798	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:61765798G>A	ENST00000423902.2	+	31	6993	c.6514G>A	c.(6514-6516)Gaa>Aaa	p.E2172K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2172	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E2172K(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAACAAGCCGAAGGCAAAGT	0.498																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6514-6516)GAA>AAA		chromodomain helicase DNA binding protein 7							28.0	29.0	29.0					8																	61765798		1878	4116	5994	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765798G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6514G>A	8.37:g.61765798G>A	ENSP00000392028:p.Glu2172Lys						p.E2172K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6991	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2172			Glu-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6514G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	5.330	0.246261	0.10130	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74842	-0.88	5.3	5.3	0.74995	.	0.141971	0.47455	D	0.000230	T	0.65026	0.2652	L	0.43152	1.355	0.09310	N	1	B	0.33345	0.409	B	0.22753	0.041	T	0.54403	-0.8299	10	0.16896	T	0.51	-21.3747	18.9564	0.92659	0.0:0.0:1.0:0.0	.	2172	Q9P2D1	CHD7_HUMAN	K	2172	ENSP00000392028:E2172K	ENSP00000307304:E2172K	E	+	1	0	CHD7	61928352	1.000000	0.71417	0.053000	0.19242	0.045000	0.14185	5.079000	0.64431	2.479000	0.83701	0.655000	0.94253	GAA		PASS	0.498	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	30	7	30	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69688634	69688634	+	Splice_Site	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:69688634G>T	ENST00000539993.1	+	11	1696	c.1147G>T	c.(1147-1149)Gga>Tga	p.G383*	C8orf34_ENST00000337103.4_Splice_Site_p.G358*|C8orf34_ENST00000325233.3_Splice_Site_p.G127*|C8orf34_ENST00000518698.1_Splice_Site_p.G469*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	383								p.G383*(1)|p.G358*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTACTTCTAGGGAGAAGCCTC	0.398																																						uc010lyz.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(1147-1149)GGA>TGA		hypothetical protein LOC116328							73.0	75.0	74.0					8																	69688634		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69688634G>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1147-1G>T	8.37:g.69688634G>T						C8orf34_uc003xyb.2_Nonsense_Mutation_p.G358*	p.G383*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		11	1196	+			383					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37	c.1147G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.121280	0.98077	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	.	.	.	5.43	5.43	0.79202	.	0.457119	0.23164	N	0.051215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2138	14.6067	0.68483	0.0:0.0:1.0:0.0	.	.	.	.	X	469;383;358;127	.	.	G	+	1	0	C8orf34	69851188	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	4.235000	0.58666	2.824000	0.97209	0.655000	0.94253	GGA		PASS	0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Nonsense_Mutation	5	80	5	80	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87660080	87660080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:87660080G>T	ENST00000320005.5	-	8	986	c.939C>A	c.(937-939)tgC>tgA	p.C313*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	313					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.C313*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGAAGAGGTAGCAAATATCAA	0.313																																						uc003ydx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(937-939)TGC>TGA		cyclic nucleotide gated channel beta 3							118.0	112.0	114.0					8																	87660080		2203	4298	6501	SO:0001587	stop_gained	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87660080G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.939C>A	8.37:g.87660080G>T	ENSP00000316605:p.Cys313*					CNGB3_uc010maj.2_Nonsense_Mutation_p.C175*	p.C313*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			8	985	-			313			Helical; Name=H3; (Potential).		C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	c.939C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689014	0.68271	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.93	-0.94	0.10405	.	0.300428	0.28871	N	0.013863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	1.0495	0.01577	0.3117:0.0991:0.3213:0.2679	.	.	.	.	X	313	.	ENSP00000316605:C313X	C	-	3	2	CNGB3	87729196	1.000000	0.71417	0.982000	0.44146	0.307000	0.27823	0.451000	0.21779	-0.077000	0.12752	-1.057000	0.02308	TGC		PASS	0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		28	45	28	45	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92330528	92330528	+	Missense_Mutation	SNP	A	A	G	rs200036884		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:92330528A>G	ENST00000276609.3	+	5	801	c.562A>G	c.(562-564)Acc>Gcc	p.T188A	SLC26A7_ENST00000523719.1_Missense_Mutation_p.T188A|SLC26A7_ENST00000309536.2_Missense_Mutation_p.T188A	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.T188A(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGGGCTGCCACCCATGTGGT	0.468													A|||	0	0.0	0.0	0.0	5008	,	,		12996	0.0		0.0	False		,,,				2504	0.0					uc003yex.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(562-564)ACC>GCC		solute carrier family 26, member 7 isoform a							129.0	124.0	125.0					8																	92330528		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92330528A>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.562A>G	8.37:g.92330528A>G	ENSP00000276609:p.Thr188Ala					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.T188A|SLC26A7_uc003yfa.2_Missense_Mutation_p.T188A	p.T188A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		6	840	+			188			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.562A>G	CCDS6254.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	22.8	4.339824	0.81911	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.95	5.95	0.96441	Sulphate transporter (1);	0.000000	0.64402	D	0.000001	D	0.92267	0.7547	N	0.14661	0.345	0.43203	D	0.995057	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.93574	0.6906	10	0.54805	T	0.06	.	16.4219	0.83766	1.0:0.0:0.0:0.0	.	188;188	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	A	188	ENSP00000428881:T188A;ENSP00000428849:T188A;ENSP00000276609:T188A;ENSP00000309504:T188A	ENSP00000276609:T188A	T	+	1	0	SLC26A7	92399704	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.063000	0.71162	2.277000	0.76020	0.528000	0.53228	ACC		PASS	0.468	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			39	64	39	64	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105509802	105509802	+	Missense_Mutation	SNP	G	G	C	rs138841847		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:105509802G>C	ENST00000276654.5	-	5	1086	c.978C>G	c.(976-978)caC>caG	p.H326Q	LRP12_ENST00000424843.2_Missense_Mutation_p.H307Q|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	326	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.H326Q(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAAAAGCTTGTGTGGATTCT	0.373																																						uc003yma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)CAC>CAG		low density lipoprotein-related protein 12		G	GLN/HIS,GLN/HIS	1,4405	2.1+/-5.4	0,1,2202	63.0	59.0	60.0		921,978	4.8	1.0	8	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense	LRP12	NM_001135703.2,NM_013437.4	24,24	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	307/841,326/860	105509802	1,13005	2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509802G>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.978C>G	8.37:g.105509802G>C	ENSP00000276654:p.His326Gln					LRP12_uc003ymb.2_Missense_Mutation_p.H307Q|LRP12_uc003ylz.2_5'Flank	p.H326Q	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1073	-			326			Extracellular (Potential).|CUB 2.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.978C>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328754	0.05314	2.27E-4	0.0	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.27402	1.67;1.67	5.66	4.79	0.61399	CUB (5);	0.099300	0.64402	D	0.000003	T	0.13500	0.0327	N	0.03294	-0.36	0.80722	D	1	B;B	0.17465	0.018;0.022	B;B	0.22152	0.022;0.038	T	0.08932	-1.0698	10	0.30854	T	0.27	-11.0421	7.601	0.28075	0.1486:0.1468:0.7046:0.0	.	307;326	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	Q	307;326	ENSP00000399148:H307Q;ENSP00000276654:H326Q	ENSP00000276654:H326Q	H	-	3	2	LRP12	105578978	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.738000	0.26158	1.401000	0.46761	-0.253000	0.11424	CAC		PASS	0.373	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		26	42	26	42	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113237101	113237101	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:113237101C>T	ENST00000297405.5	-	71	11267	c.11023G>A	c.(11023-11025)Gca>Aca	p.A3675T	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3506T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3605T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3635T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3675						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3635T(1)|p.A3675T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAAAAGCTGCTTGGCCATTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(11023-11025)GCA>ACA		CUB and Sushi multiple domains 3 isoform 1							377.0	336.0	350.0					8																	113237101		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237101C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11023G>A	8.37:g.113237101C>T	ENSP00000297405:p.Ala3675Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A2877T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3635T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3506T	p.A3675T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11182	-			3675			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11023G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399062	0.83120	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.39229	1.44;1.43;1.51;1.09;1.48	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.67711	0.2922	M	0.73962	2.25	0.54753	D	0.999986	D;D;P	0.76494	0.999;0.998;0.925	D;D;P	0.85130	0.997;0.992;0.644	T	0.69316	-0.5177	10	0.87932	D	0	.	20.0503	0.97624	0.0:1.0:0.0:0.0	.	3506;3675;3635	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3635;3675;2945;3506;3605	ENSP00000345799:A3635T;ENSP00000297405:A3675T;ENSP00000341558:A2945T;ENSP00000412263:A3506T;ENSP00000343124:A3605T	ENSP00000297405:A3675T	A	-	1	0	CSMD3	113306277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.809000	0.69172	2.736000	0.93811	0.591000	0.81541	GCA		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	129	27	129	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139153478	139153478	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:139153478C>A	ENST00000395297.1	-	17	3923	c.3753G>T	c.(3751-3753)ctG>ctT	p.L1251L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1251								p.L1251L(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)			ACAGGGTTCCCAGGTGAGGCC	0.532										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(3751-3753)CTG>CTT		hypothetical protein LOC51059							130.0	139.0	136.0					8																	139153478		1952	4135	6087	SO:0001819	synonymous_variant	51059							g.chr8:139153478C>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.3753G>T	8.37:g.139153478C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L1152L|FAM135B_uc003yuz.2_RNA	p.L1251L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3924	-	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)		1251					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3753G>T	CCDS6375.2																																																																																				PASS	0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		17	44	17	44	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139611024	139611024	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:139611024C>A	ENST00000303045.6	-	61	4749	c.4303G>T	c.(4303-4305)Ggg>Tgg	p.G1435W	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1415W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1435	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1435W(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)			CCATTCTCCCCAGGTAGTCCT	0.612										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4303-4305)GGG>TGG		collagen, type XXII, alpha 1							65.0	66.0	66.0					8																	139611024		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611024C>A	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.4303G>T	8.37:g.139611024C>A	ENSP00000303153:p.Gly1435Trp	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G715W	p.G1435W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4750	-	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)		1435			Pro-rich.|Gly-rich.|Collagen-like 14.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4303G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699927	0.68501	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99369	-5.78;-5.78	5.48	5.48	0.80851	.	0.000000	0.44902	U	0.000401	D	0.99694	0.9884	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97365	0.9972	10	0.87932	D	0	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	1415;1435	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1435;1415;1128	ENSP00000303153:G1435W;ENSP00000387655:G1415W	ENSP00000303153:G1435W	G	-	1	0	COL22A1	139680206	1.000000	0.71417	0.905000	0.35620	0.961000	0.63080	7.482000	0.81143	2.569000	0.86673	0.555000	0.69702	GGG		PASS	0.612	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		22	30	22	30	---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142161912	142161912	+	Silent	SNP	C	C	A	rs142459324		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:142161912C>A	ENST00000262585.2	+	7	1088	c.810C>A	c.(808-810)ctC>ctA	p.L270L	DENND3_ENST00000519811.1_Silent_p.L350L|DENND3_ENST00000424248.1_Silent_p.L270L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	270	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L270L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCCATCTCGACCACTTCG	0.552																																						uc003yvy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(808-810)CTC>CTA		DENN/MADD domain containing 3							113.0	99.0	104.0					8																	142161912		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142161912C>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.810C>A	8.37:g.142161912C>A						DENND3_uc010mep.2_Silent_p.L283L	p.L270L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1088	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		270			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.810C>A	CCDS34947.1																																																																																				PASS	0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		5	123	5	123	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144998324	144998324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:144998324C>A	ENST00000322810.4	-	31	6353	c.6184G>T	c.(6184-6186)Gag>Tag	p.E2062*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.E1893*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E1929*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E1952*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E1925*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E1948*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E1903*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E1911*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E1925*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2062	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2062*(1)|p.E1925*(1)|p.E1952*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGATCTCCTCCTCCACCTGC	0.701																																						uc003zaf.1																			3	Substitution - Nonsense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6184-6186)GAG>TAG		plectin isoform 1							15.0	18.0	17.0					8																	144998324		2180	4260	6440	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998324C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6184G>T	8.37:g.144998324C>A	ENSP00000323856:p.Glu2062*					PLEC_uc003zab.1_Nonsense_Mutation_p.E1925*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1929*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1925*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1893*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1903*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1911*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1952*	p.E2062*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6354	-			2062			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.6184G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	47	13.568983	0.99750	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.09	3.18	0.36537	.	0.000000	0.64402	U	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	13.1766	0.59630	0.0:0.8379:0.1621:0.0	.	.	.	.	X	1925;1929;1925;1893;2062;1903;1911;1952;1948	.	ENSP00000323856:E2062X	E	-	1	0	PLEC	145070312	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.728000	0.68531	0.890000	0.36211	0.448000	0.29417	GAG		PASS	0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	5	5	5	---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145638176	145638176	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:145638176G>A	ENST00000301305.3	-	11	1887	c.1782C>T	c.(1780-1782)acC>acT	p.T594T	SLC39A4_ENST00000276833.5_Silent_p.T569T|SLC39A4_ENST00000531013.1_5'UTR|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	594					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.T569T(1)|p.T594T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|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)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGAACAGGCCGGTGGCCACTG	0.672																																						uc003zcq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1780-1782)ACC>ACT		solute carrier family 39 (zinc transporter),							33.0	36.0	35.0					8																	145638176		2203	4299	6502	SO:0001819	synonymous_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638176G>A	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1782C>T	8.37:g.145638176G>A						SLC39A4_uc003zcm.1_Silent_p.T96T|SLC39A4_uc003zcn.2_Silent_p.T96T|SLC39A4_uc003zco.2_Silent_p.T318T|SLC39A4_uc003zcp.2_Silent_p.T569T	p.T594T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		11	1882	-	all_cancers(97;6.64e-12)|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)		594			Helical; Name=5; (Potential).		Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000301305.3	37	c.1782C>T	CCDS6424.1																																																																																				PASS	0.672	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			7	17	7	17	---	---	---	---
IFNA6	3443	broad.mit.edu	37	9	21350809	21350809	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:21350809C>T	ENST00000380210.1	-	1	568	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	26					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.L26L(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGGTCTGAGGCAGATCACAGT	0.512																																						uc011lni.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)CTG>CTA		interferon, alpha 6 precursor							105.0	103.0	104.0					9																	21350809		2203	4300	6503	SO:0001819	synonymous_variant	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350809C>T		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.78G>A	9.37:g.21350809C>T							p.L26L	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	78	-			26					Q5VYQ1	Silent	SNP	ENST00000380210.1	37	c.78G>A	CCDS6504.1																																																																																				PASS	0.512	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		25	45	25	45	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949203	27949203	+	Silent	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:27949203A>T	ENST00000379992.2	-	6	1916	c.1467T>A	c.(1465-1467)gcT>gcA	p.A489A	LINGO2_ENST00000308675.3_Silent_p.A489A	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	489	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.A489A(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TATCATTCCCAGCAGCATTGC	0.498																																						uc003zqu.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1465-1467)GCT>GCA		leucine rich repeat and Ig domain containing 2							108.0	105.0	106.0					9																	27949203		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27949203A>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1467T>A	9.37:g.27949203A>T						LINGO2_uc010mjf.1_Silent_p.A489A|LINGO2_uc003zqv.1_Silent_p.A489A	p.A489A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1661	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	489			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1467T>A	CCDS6524.1																																																																																				PASS	0.498	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		23	33	23	33	---	---	---	---
ACO1	48	broad.mit.edu	37	9	32448965	32448965	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:32448965C>G	ENST00000309951.6	+	20	2580	c.2442C>G	c.(2440-2442)atC>atG	p.I814M	ACO1_ENST00000541043.1_Missense_Mutation_p.I715M|ACO1_ENST00000379923.1_Missense_Mutation_p.I814M	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	814					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.I814M(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGGGTGTGATCCCACTTGAAT	0.483																																						uc003zqw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2440-2442)ATC>ATG		aconitase 1							127.0	107.0	114.0					9																	32448965		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32448965C>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2442C>G	9.37:g.32448965C>G	ENSP00000309477:p.Ile814Met					ACO1_uc003zqx.3_Missense_Mutation_p.I814M|ACO1_uc003zqy.3_RNA	p.I814M	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	20	2597	+			814					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2442C>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345125	0.61073	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.37915	1.17;1.17;2.17	6.01	4.12	0.48240	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.046402	0.85682	D	0.000000	T	0.42017	0.1184	M	0.63208	1.945	0.58432	D	0.999998	B	0.26318	0.146	B	0.41332	0.354	T	0.38564	-0.9655	10	0.62326	D	0.03	-25.3808	6.3362	0.21296	0.1479:0.6954:0.0:0.1567	.	814	P21399	ACOC_HUMAN	M	814;814;715	ENSP00000309477:I814M;ENSP00000369255:I814M;ENSP00000438733:I715M	ENSP00000309477:I814M	I	+	3	3	ACO1	32438965	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	0.099000	0.15210	0.811000	0.34303	0.650000	0.86243	ATC		PASS	0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		18	32	18	32	---	---	---	---
DCAF10	79269	broad.mit.edu	37	9	37861493	37861493	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:37861493G>A	ENST00000377724.3	+	7	2033	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR|DCAF10_ENST00000242323.7_Silent_p.Q519Q	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	556					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.Q556Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTTTGTATCAGCCAAAGTTTT	0.383																																						uc004aao.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1666-1668)CAG>CAA		WD repeat domain 32							114.0	111.0	112.0					9																	37861493		2203	4300	6503	SO:0001819	synonymous_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37861493G>A	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1668G>A	9.37:g.37861493G>A						DCAF10_uc010mlz.2_Silent_p.Q383Q|DCAF10_uc004aap.2_Silent_p.Q207Q	p.Q556Q	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			7	1742	+			556			WD 7.		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	37	c.1668G>A	CCDS6613.2																																																																																				PASS	0.383	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		4	80	4	80	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73225606	73225606	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:73225606C>A	ENST00000377111.2	-	18	2793	c.2550G>T	c.(2548-2550)caG>caT	p.Q850H	TRPM3_ENST00000423814.3_Missense_Mutation_p.Q877H|TRPM3_ENST00000360823.2_Missense_Mutation_p.Q712H|TRPM3_ENST00000396285.1_Missense_Mutation_p.Q697H|TRPM3_ENST00000377110.3_Missense_Mutation_p.Q850H|TRPM3_ENST00000358082.3_Missense_Mutation_p.Q712H|TRPM3_ENST00000377105.1_Missense_Mutation_p.Q709H|TRPM3_ENST00000396280.5_Missense_Mutation_p.Q699H|TRPM3_ENST00000408909.2_Missense_Mutation_p.Q709H|TRPM3_ENST00000357533.2_Missense_Mutation_p.Q854H|TRPM3_ENST00000377106.1_Missense_Mutation_p.Q722H|TRPM3_ENST00000396292.4_Missense_Mutation_p.Q722H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	875					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.Q722H(1)|p.Q854H(1)|p.Q850H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGTGCTTGCTCTGAACTTCCT	0.468																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2548-2550)CAG>CAT		transient receptor potential cation channel,							233.0	200.0	211.0					9																	73225606		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73225606C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2550G>T	9.37:g.73225606C>A	ENSP00000366315:p.Gln850His					TRPM3_uc004ahu.2_Missense_Mutation_p.Q680H|TRPM3_uc004ahv.2_Missense_Mutation_p.Q652H|TRPM3_uc004ahw.2_Missense_Mutation_p.Q722H|TRPM3_uc004ahx.2_Missense_Mutation_p.Q709H|TRPM3_uc004ahy.2_Missense_Mutation_p.Q712H|TRPM3_uc004ahz.2_Missense_Mutation_p.Q699H|TRPM3_uc004aia.2_Missense_Mutation_p.Q697H|TRPM3_uc004aib.2_Missense_Mutation_p.Q687H|TRPM3_uc004aic.2_Missense_Mutation_p.Q850H	p.Q850H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			18	2794	-			875			Extracellular (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2550G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.68|12.68	2.012058|2.012058	0.35511|0.35511	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|D;D;D;D;D;D;D;D;D;D;D	.|0.82711	.|-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	6.17|6.17	3.2|3.2	0.36748|0.36748	.|.	.|0.059253	.|0.64402	.|D	.|0.000001	.|T	.|0.63534	.|0.2519	N|N	0.13098|0.13098	0.295|0.295	0.38833|0.38833	D|D	0.955884|0.955884	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	.|B;B;B;B;B;B;B;B	.|0.10450	.|0.005;0.0;0.002;0.001;0.001;0.001;0.002;0.001	.|T	.|0.51857	.|-0.8652	.|10	.|0.12766	.|T	.|0.61	-21.1281|-21.1281	5.5936|5.5936	0.17315|0.17315	0.1391:0.6486:0.0:0.2123|0.1391:0.6486:0.0:0.2123	.|.	.|850;850;840;854;712;709;822;697	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	X|H	699|850;850;722;712;709;854;709;697;722;712;877	.|ENSP00000366315:Q850H;ENSP00000366314:Q850H;ENSP00000366310:Q722H;ENSP00000354066:Q712H;ENSP00000366309:Q709H;ENSP00000350140:Q854H;ENSP00000386127:Q709H;ENSP00000379581:Q697H;ENSP00000379587:Q722H;ENSP00000350791:Q712H;ENSP00000389542:Q877H	.|ENSP00000350140:Q854H	E|Q	-|-	1|3	0|2	TRPM3|TRPM3	72415426|72415426	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.259000|0.259000	0.18405|0.18405	0.928000|0.928000	0.37168|0.37168	0.655000|0.655000	0.94253|0.94253	GAG|CAG		PASS	0.468	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		24	45	24	45	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79322116	79322116	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:79322116C>A	ENST00000376718.3	-	8	5197	c.5074G>T	c.(5074-5076)Gtc>Ttc	p.V1692F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.V1333F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1692					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V1692F(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACCACCGACACTGTCATCA	0.463																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5074-5076)GTC>TTC		prune homolog 2							80.0	69.0	72.0					9																	79322116		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322116C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5074G>T	9.37:g.79322116C>A	ENSP00000365908:p.Val1692Phe						p.V1692F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5198	-			1692					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5074G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.046|0.046	-1.265280|-1.265280	0.01433|0.01433	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.47528	.|0.84;0.85	5.43|5.43	0.687|0.687	0.18020|0.18020	.|.	.|1.977960	.|0.02573	.|N	.|0.098050	T|T	0.28466|0.28466	0.0704|0.0704	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P	.|0.41265	.|0.744	.|B	.|0.33521	.|0.165	T|T	0.26815|0.26815	-1.0092|-1.0092	5|10	.|0.42905	.|T	.|0.14	-0.4173|-0.4173	1.1025|1.1025	0.01687|0.01687	0.2632:0.4097:0.1273:0.1999|0.2632:0.4097:0.1273:0.1999	.|.	.|1692	.|Q8WUY3	.|PRUN2_HUMAN	F|F	1013|1692;1333;1691	.|ENSP00000365908:V1692F;ENSP00000397425:V1333F	.|ENSP00000365908:V1692F	C|V	-|-	2|1	0|0	PRUNE2|PRUNE2	78511936|78511936	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.057000|0.057000	0.15508|0.15508	-0.329000|-0.329000	0.07935|0.07935	0.593000|0.593000	0.29745|0.29745	0.563000|0.563000	0.77884|0.77884	TGT|GTC		PASS	0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		13	39	13	39	---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82320816	82320816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:82320816G>T	ENST00000376552.2	+	10	1760	c.742G>T	c.(742-744)Gag>Tag	p.E248*	TLE4_ENST00000376537.4_Nonsense_Mutation_p.E248*|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Nonsense_Mutation_p.E248*|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E223*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	248	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.E248*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCGATGGTGAGAAAAGTGA	0.413																																						uc004ald.2																			2	Substitution - Nonsense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(721-723)GAG>TAG		transducin-like enhancer protein 4							334.0	327.0	329.0					9																	82320816		1965	4168	6133	SO:0001587	stop_gained	7091							g.chr9:82320816G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.742G>T	9.37:g.82320816G>T	ENSP00000365735:p.Glu248*					TLE4_uc004alc.2_Nonsense_Mutation_p.E248*|TLE4_uc010mpr.2_Nonsense_Mutation_p.E127*|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Nonsense_Mutation_p.E216*|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Nonsense_Mutation_p.E187*	p.E241*	NM_007005	NP_008936	O60756	BCE1_HUMAN			10	1570	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	ENST00000376552.2	37	c.721G>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.827875|7.827875	0.98513|0.98513	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347|ENST00000496114	.|.	.|.	.|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.047679|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-23.9439|-23.9439	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	248;248;248;223;233;118|38	.|.	ENSP00000265284:E223X|.	E|X	+|+	1|2	0|2	TLE4|TLE4	81510636|81510636	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.900000|0.900000	0.52787|0.52787	9.476000|9.476000	0.97823|0.97823	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GAG|TGA		PASS	0.413	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		5	112	5	112	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101810117	101810117	+	Missense_Mutation	SNP	G	G	T	rs138040776		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:101810117G>T	ENST00000375001.3	+	27	3152	c.2729G>T	c.(2728-2730)cGa>cTa	p.R910L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	910	Collagen-like 4.|Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.R910L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCGGGCGACCTGTAGGT	0.542																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2728-2730)CGA>CTA		alpha 1 type XV collagen precursor							127.0	126.0	126.0					9																	101810117		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101810117G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2729G>T	9.37:g.101810117G>T	ENSP00000364140:p.Arg910Leu						p.R910L	NM_001855	NP_001846	P39059	COFA1_HUMAN			27	2935	+		Acute lymphoblastic leukemia(62;0.0562)	910			Triple-helical region 5 (COL5).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2729G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932373	0.52866	.	.	ENSG00000204291	ENST00000375001	T	0.53857	0.6	5.74	5.74	0.90152	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	N	0.20807	0.61	0.49389	D	0.99978	D	0.89917	1.0	D	0.87578	0.998	T	0.51679	-0.8675	10	0.22109	T	0.4	-12.5291	15.4078	0.74893	0.0:0.0:1.0:0.0	.	910	P39059	COFA1_HUMAN	L	910	ENSP00000364140:R910L	ENSP00000364140:R910L	R	+	2	0	COL15A1	100849938	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	6.953000	0.75995	2.714000	0.92807	0.585000	0.79938	CGA		PASS	0.542	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		40	51	40	51	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111938886	111938886	+	Missense_Mutation	SNP	C	C	T	rs368177192		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:111938886C>T	ENST00000374566.3	-	25	3095	c.2578G>A	c.(2578-2580)Gtc>Atc	p.V860I		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	860					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.V860I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGTGGAGACGGTCTCTGTC	0.562																																						uc004bdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2578-2580)GTC>ATC		erythrocyte membrane protein band 4.1 like 4B		T	ILE/VAL	1,3927		0,1,1963	70.0	73.0	72.0		2578	1.5	0.7	9		72	0,8304		0,0,4152	no	missense	EPB41L4B	NM_019114.3	29	0,1,6115	TT,TC,CC		0.0,0.0255,0.0082	benign	860/901	111938886	1,12231	1964	4152	6116	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111938886C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2578G>A	9.37:g.111938886C>T	ENSP00000363694:p.Val860Ile						p.V860I	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			25	2873	-			860					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.2578G>A	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	c	11.42	1.634985	0.29068	2.55E-4	0.0	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84370	-1.84	5.39	1.52	0.23074	.	0.919583	0.08939	N	0.871886	T	0.76821	0.4041	L	0.28115	0.83	0.09310	N	0.999996	B	0.14438	0.01	B	0.08055	0.003	T	0.60094	-0.7330	10	0.42905	T	0.14	.	10.8743	0.46902	0.0:0.5755:0.0:0.4245	.	860	Q9H329	E41LB_HUMAN	I	545;860	ENSP00000363694:V860I	ENSP00000262536:V545I	V	-	1	0	EPB41L4B	110978707	0.017000	0.18338	0.716000	0.30569	0.966000	0.64601	0.070000	0.14573	-0.188000	0.10499	-0.713000	0.03633	GTC		PASS	0.562	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		9	26	9	26	---	---	---	---
ZNF883	169834	broad.mit.edu	37	9	115760433	115760433	+	lincRNA	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:115760433A>G	ENST00000427548.1	-	0	1380							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTTTCTCCAATATGTGTTTT	0.383																																						uc011lwy.1																			0					0						c.(106-108)ATT>ACT		hypothetical protein LOC169834							60.0	64.0	63.0					9																	115760433		2057	4226	6283			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760433A>G	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760433A>G							p.I36T	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1346	-			36						Missense_Mutation	SNP	ENST00000427548.1	37	c.107T>C																																																																																					PASS	0.383	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		22	31	22	31	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117120298	117120298	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:117120298G>A	ENST00000307564.4	-	12	2803	c.2642C>T	c.(2641-2643)gCa>gTa	p.A881V	AKNA_ENST00000223791.3_Missense_Mutation_p.A341V|AKNA_ENST00000374088.3_Missense_Mutation_p.A881V|AKNA_ENST00000374075.5_Missense_Mutation_p.A800V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	881					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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)	p.A881V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTGGTGGGATGCTGCGGACTT	0.657																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(2641-2643)GCA>GTA		AT-hook transcription factor							65.0	64.0	64.0					9																	117120298		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117120298G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2642C>T	9.37:g.117120298G>A	ENSP00000303769:p.Ala881Val					AKNA_uc004bin.3_Missense_Mutation_p.A128V|AKNA_uc004bio.3_Missense_Mutation_p.A341V|AKNA_uc004bip.3_Missense_Mutation_p.A800V|AKNA_uc004bir.3_Missense_Mutation_p.A881V|AKNA_uc004bis.3_Missense_Mutation_p.A881V|AKNA_uc010mve.2_Missense_Mutation_p.A762V	p.A881V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			11	2777	-			881					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.2642C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870802	0.33069	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.15603	2.63;2.63;2.41;2.63	3.79	-0.429	0.12303	.	1.112660	0.06836	N	0.794784	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	1	B;B	0.30851	0.056;0.297	B;B	0.27262	0.016;0.078	T	0.34204	-0.9838	10	0.25106	T	0.35	0.0344	1.1547	0.01793	0.2083:0.1737:0.4398:0.1782	.	881;800	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	881;881;341;800	ENSP00000303769:A881V;ENSP00000363201:A881V;ENSP00000223791:A341V;ENSP00000363188:A800V	ENSP00000223791:A341V	A	-	2	0	AKNA	116160119	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.377000	0.07456	-0.065000	0.13021	0.442000	0.29010	GCA		PASS	0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		11	22	11	22	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137714873	137714873	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:137714873C>A	ENST00000371817.3	+	60	5052	c.4638C>A	c.(4636-4638)ggC>ggA	p.G1546G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1546	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G1546G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTGCTAAGGGCTCCTCGGTAA	0.632																																						uc004cfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4636-4638)GGC>GGA		alpha 1 type V collagen preproprotein							103.0	76.0	85.0					9																	137714873		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137714873C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4638C>A	9.37:g.137714873C>A						uc004cff.2_Intron	p.G1546G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	60	5020	+		Myeloproliferative disorder(178;0.0341)	1546			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4638C>A	CCDS6982.1																																																																																				PASS	0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	18	6	18	---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	293350	293350	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:293350C>G	ENST00000397962.3	+	12	1599	c.1171C>G	c.(1171-1173)Caa>Gaa	p.Q391E	ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q351E|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q186E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q391E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q297E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q351E|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q360E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q306E|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q306E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q391E|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q311E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q351E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q374E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q271E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q390E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	391					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q391E(2)|p.Q351E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGGTCACTCAAGAACCAAG	0.428																																						uc010pzt.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1171-1173)CAA>GAA		zinc finger, MYND domain containing 11 isoform							78.0	72.0	74.0					10																	293350		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:293350C>G	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1171C>G	10.37:g.293350C>G	ENSP00000381053:p.Gln391Glu					ZMYND11_uc001ifk.2_Missense_Mutation_p.Q390E|ZMYND11_uc010pzu.1_Missense_Mutation_p.Q391E|ZMYND11_uc010pzv.1_Missense_Mutation_p.Q336E|ZMYND11_uc010pzw.1_Missense_Mutation_p.Q306E|ZMYND11_uc001ifm.2_Missense_Mutation_p.Q337E|ZMYND11_uc010pzx.1_Missense_Mutation_p.Q391E|ZMYND11_uc001ifn.2_Missense_Mutation_p.Q337E|ZMYND11_uc009xhg.2_Missense_Mutation_p.Q374E|ZMYND11_uc009xhh.2_Missense_Mutation_p.Q265E|ZMYND11_uc010pzy.1_Missense_Mutation_p.Q243E	p.Q391E	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	12	1599	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	351					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1171C>G	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221857	0.58560	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	6.03	6.03	0.97812	.	0.169749	0.52532	D	0.000074	T	0.53334	0.1790	L	0.29908	0.895	0.38645	D	0.951692	B;P;B;B;B;B;B;B;B;B	0.35077	0.294;0.483;0.116;0.252;0.294;0.116;0.16;0.13;0.13;0.294	B;B;B;B;B;B;B;B;B;B	0.31614	0.069;0.133;0.031;0.066;0.101;0.046;0.073;0.066;0.049;0.101	T	0.53683	-0.8404	9	0.06099	T	0.92	-31.5955	20.5568	0.99304	0.0:1.0:0.0:0.0	.	351;391;306;336;391;311;320;337;337;360	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	E	391;351;351;391;306;391;311;297;360;351;374;271;186	ENSP00000381053:Q391E;ENSP00000309992:Q351E;ENSP00000371015:Q351E;ENSP00000381050:Q306E;ENSP00000371003:Q391E;ENSP00000385484:Q311E;ENSP00000371020:Q297E;ENSP00000386010:Q360E;ENSP00000371017:Q351E;ENSP00000370996:Q374E;ENSP00000438461:Q271E;ENSP00000439587:Q186E	ENSP00000309992:Q351E	Q	+	1	0	ZMYND11	283350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.300000	0.59079	2.861000	0.98227	0.655000	0.94253	CAA		PASS	0.428	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		15	39	15	39	---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5827861	5827861	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:5827861C>T	ENST00000380191.4	-	5	831	c.541G>A	c.(541-543)Gtt>Att	p.V181I	GDI2_ENST00000380181.3_Missense_Mutation_p.V136I|GDI2_ENST00000380132.4_Missense_Mutation_p.V185I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	181					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)	p.V181I(1)		NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAATCTATAACGTCTTGACCC	0.333																																						uc001iil.3																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GTT>ATT		GDP dissociation inhibitor 2 isoform 1							137.0	127.0	130.0					10																	5827861		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827861C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.541G>A	10.37:g.5827861C>T	ENSP00000369538:p.Val181Ile					GDI2_uc001iim.3_Missense_Mutation_p.V136I|GDI2_uc009xid.2_Missense_Mutation_p.V185I	p.V181I	NM_001494	NP_001485	P50395	GDIB_HUMAN			5	832	-			181					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.541G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585072	0.66105	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.41	5.41	0.78517	.	0.053401	0.85682	D	0.000000	T	0.81484	0.4832	L	0.36672	1.1	0.80722	D	1	B;B;B	0.22003	0.004;0.063;0.002	B;B;B	0.24269	0.024;0.052;0.036	T	0.76105	-0.3081	10	0.41790	T	0.15	-11.6538	19.166	0.93557	0.0:1.0:0.0:0.0	.	185;136;181	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	I	181;14;9;185;136;171;145	ENSP00000369538:V181I;ENSP00000387565:V9I;ENSP00000369475:V185I;ENSP00000369528:V136I;ENSP00000401733:V171I;ENSP00000394177:V145I	ENSP00000369475:V185I	V	-	1	0	GDI2	5867867	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	5.904000	0.69886	2.709000	0.92574	0.655000	0.94253	GTT		PASS	0.333	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		14	57	14	57	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16949629	16949629	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:16949629C>T	ENST00000377833.4	-	49	7648	c.7583G>A	c.(7582-7584)aGt>aAt	p.S2528N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2528	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S2528N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCACACTACTACACAGTTT	0.408																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7582-7584)AGT>AAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						104.0	90.0	95.0					10																	16949629		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16949629C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7583G>A	10.37:g.16949629C>T	ENSP00000367064:p.Ser2528Asn					CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	p.S2528N	NM_001081	NP_001072	O60494	CUBN_HUMAN			49	7635	-			2528			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7583G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448579	0.43531	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.38	5.38	0.77491	CUB (5);	0.228496	0.31071	N	0.008305	T	0.22589	0.0545	L	0.37800	1.135	0.80722	D	1	P	0.40970	0.734	B	0.44315	0.446	T	0.00852	-1.1540	10	0.62326	D	0.03	.	19.5036	0.95105	0.0:1.0:0.0:0.0	.	2528	O60494	CUBN_HUMAN	N	2528	ENSP00000367064:S2528N	ENSP00000367064:S2528N	S	-	2	0	CUBN	16989635	1.000000	0.71417	0.191000	0.23289	0.528000	0.34623	6.971000	0.76105	2.672000	0.90937	0.650000	0.86243	AGT		PASS	0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		28	46	28	46	---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27497281	27497281	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:27497281C>A	ENST00000375888.1	-	10	1389	c.1325G>T	c.(1324-1326)cGa>cTa	p.R442L	ACBD5_ENST00000375897.3_Missense_Mutation_p.R256L|ACBD5_ENST00000396271.3_Missense_Mutation_p.R433L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.R398L|ACBD5_ENST00000375901.1_Missense_Mutation_p.R324L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	442					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.R433L(1)|p.R398L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGGCTGCCTCGGGACCCTCT	0.572																																						uc010qdp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1297-1299)CGA>CTA		acyl-Coenzyme A binding domain containing 5							97.0	90.0	92.0					10																	27497281		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27497281C>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1325G>T	10.37:g.27497281C>A	ENSP00000365049:p.Arg442Leu					ACBD5_uc010qdm.1_Missense_Mutation_p.R431L|ACBD5_uc010qdn.1_Missense_Mutation_p.R324L|ACBD5_uc010qdo.1_Missense_Mutation_p.R256L|ACBD5_uc001ito.2_Missense_Mutation_p.R398L|ACBD5_uc001itp.2_Missense_Mutation_p.R324L|ACBD5_uc001itq.2_Missense_Mutation_p.R324L|ACBD5_uc001itr.1_Missense_Mutation_p.R222L	p.R433L	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			10	1489	-			442					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.1298G>T		.	.	.	.	.	.	.	.	.	.	C	9.698	1.153698	0.21371	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.34472	2.35;2.1;1.36;1.39;2.35	5.63	4.73	0.59995	.	0.669407	0.15236	N	0.273173	T	0.37758	0.1015	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.30193	0.272;0.037;0.022;0.022	B;B;B;B	0.28916	0.096;0.044;0.03;0.056	T	0.28364	-1.0046	10	0.40728	T	0.16	-8.6067	10.2985	0.43637	0.0:0.793:0.0:0.207	.	433;256;431;442	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	L	439;433;398;324;256;442	ENSP00000379568:R433L;ENSP00000365070:R398L;ENSP00000365066:R324L;ENSP00000365062:R256L;ENSP00000365049:R442L	ENSP00000365049:R442L	R	-	2	0	ACBD5	27537287	0.000000	0.05858	0.449000	0.26957	0.345000	0.29048	0.632000	0.24583	1.514000	0.48869	-0.224000	0.12420	CGA		PASS	0.572	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		4	60	4	60	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315269	30315269	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:30315269G>A	ENST00000375377.1	-	3	3909	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1270					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R1270W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCATCCGTGACACTGAG	0.577																																						uc001iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3808-3810)CGG>TGG		hypothetical protein LOC57608							53.0	51.0	52.0					10																	30315269		1960	4140	6100	SO:0001583	missense	57608							g.chr10:30315269G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3808C>T	10.37:g.30315269G>A	ENSP00000364526:p.Arg1270Trp					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1132W|KIAA1462_uc009xle.1_Missense_Mutation_p.R1270W	p.R1270W	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3867	-			1270					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3808C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843154	0.51057	.	.	ENSG00000165757	ENST00000375377	T	0.20200	2.09	5.44	2.43	0.29744	.	0.063659	0.64402	D	0.000010	T	0.43787	0.1263	M	0.66939	2.045	0.41269	D	0.986837	D	0.89917	1.0	D	0.91635	0.999	T	0.41484	-0.9506	10	0.87932	D	0	-25.8116	14.587	0.68331	0.0:0.0:0.6423:0.3577	.	1270	Q9P266	K1462_HUMAN	W	1270	ENSP00000364526:R1270W	ENSP00000364526:R1270W	R	-	1	2	KIAA1462	30355275	1.000000	0.71417	0.352000	0.25734	0.063000	0.16089	4.027000	0.57239	0.220000	0.20860	0.655000	0.94253	CGG		PASS	0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		9	38	9	38	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34408612	34408612	+	Missense_Mutation	SNP	C	C	G	rs12359558		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:34408612C>G	ENST00000374789.3	-	24	3931	c.3606G>C	c.(3604-3606)caG>caC	p.Q1202H	PARD3_ENST00000545693.1_Missense_Mutation_p.Q1186H|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1156H|PARD3_ENST00000346874.4_Missense_Mutation_p.Q1165H|PARD3_ENST00000374794.3_Missense_Mutation_p.Q1090H|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1112H|PARD3_ENST00000374790.3_Missense_Mutation_p.Q1142H|PARD3_ENST00000374788.3_Missense_Mutation_p.Q1199H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1202					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q1202H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCGCTGCATCTGCACCTCCA	0.637																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3604-3606)CAG>CAC		partitioning-defective protein 3 homolog							23.0	22.0	22.0					10																	34408612		2200	4297	6497	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34408612C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3606G>C	10.37:g.34408612C>G	ENSP00000363921:p.Gln1202His					PARD3_uc010qek.1_Missense_Mutation_p.Q1199H|PARD3_uc010qel.1_Missense_Mutation_p.Q1165H|PARD3_uc010qem.1_Missense_Mutation_p.Q1186H|PARD3_uc010qen.1_Missense_Mutation_p.Q1156H|PARD3_uc010qeo.1_Missense_Mutation_p.Q1119H|PARD3_uc010qep.1_Missense_Mutation_p.Q1112H|PARD3_uc010qeq.1_Missense_Mutation_p.Q1090H	p.Q1202H	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			24	3606	-		Breast(68;0.0707)	1202			Potential.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3606G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107171	0.77096	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.18502	2.3;2.21;2.38;2.37;2.32;2.27;2.22;2.31	5.4	4.33	0.51752	.	0.059127	0.64402	D	0.000001	T	0.33352	0.0860	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.995;0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;D	0.85130	0.997;0.989;0.997;0.997;0.997;0.997;0.997;0.993	T	0.02398	-1.1165	10	0.54805	T	0.06	.	8.8605	0.35253	0.0:0.7569:0.0:0.2431	.	1090;1112;1119;1156;1186;1165;1199;1202	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1186;1112;1202;1199;1165;1090;1156;1142	ENSP00000443147:Q1186H;ENSP00000440857:Q1112H;ENSP00000363921:Q1202H;ENSP00000363920:Q1199H;ENSP00000340591:Q1165H;ENSP00000363926:Q1090H;ENSP00000311986:Q1156H;ENSP00000363922:Q1142H	ENSP00000340591:Q1165H	Q	-	3	2	PARD3	34448618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.154000	0.31688	0.929000	0.37192	0.650000	0.86243	CAG		PASS	0.637	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	5	4	5	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37440993	37440993	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:37440993A>T	ENST00000602533.1	+	12	1582	c.1483A>T	c.(1483-1485)Atg>Ttg	p.M495L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M495L|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.M495L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	551					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M495L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAGATCCGATGTTCCCACC	0.294																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1483-1485)ATG>TTG		ankyrin repeat domain 30A							119.0	106.0	110.0					10																	37440993		1792	4069	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37440993A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1483A>T	10.37:g.37440993A>T	ENSP00000473551:p.Met495Leu						p.M495L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			12	1582	+			551					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1483A>T		.	.	.	.	.	.	.	.	.	.	.	5.874	0.345322	0.11126	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06294	3.32;3.32	1.71	1.71	0.24356	.	.	.	.	.	T	0.06234	0.0161	L	0.34521	1.04	0.09310	N	1	B	0.27068	0.167	B	0.38194	0.267	T	0.47497	-0.9113	9	0.16420	T	0.52	.	5.5239	0.16947	1.0:0.0:0.0:0.0	.	551	Q9BXX3	AN30A_HUMAN	L	495	ENSP00000354432:M495L;ENSP00000363792:M495L	ENSP00000354432:M495L	M	+	1	0	ANKRD30A	37480999	0.585000	0.26774	0.009000	0.14445	0.005000	0.04900	0.488000	0.22371	1.038000	0.40049	0.315000	0.21342	ATG		PASS	0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		11	36	11	36	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37442554	37442554	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:37442554C>G	ENST00000602533.1	+	13	1693	c.1594C>G	c.(1594-1596)Caa>Gaa	p.Q532E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q532E|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q532E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	588					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q532K(1)|p.Q532E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCTACACATCAAAAAGAAAT	0.313																																						uc001iza.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(1)|skin(1)	9						c.(1594-1596)CAA>GAA		ankyrin repeat domain 30A							147.0	146.0	146.0					10																	37442554		1804	4061	5865	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442554C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1594C>G	10.37:g.37442554C>G	ENSP00000473551:p.Gln532Glu						p.Q532E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			13	1693	+			588					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1594C>G		.	.	.	.	.	.	.	.	.	.	.	2.256	-0.370334	0.05069	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06449	3.3;3.3	1.47	-2.95	0.05564	.	.	.	.	.	T	0.07818	0.0196	L	0.34521	1.04	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.31861	-0.9928	9	0.38643	T	0.18	.	8.4361	0.32789	0.0:0.3257:0.6743:0.0	.	588	Q9BXX3	AN30A_HUMAN	E	532	ENSP00000354432:Q532E;ENSP00000363792:Q532E	ENSP00000354432:Q532E	Q	+	1	0	ANKRD30A	37482560	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.310000	0.19356	-0.745000	0.04772	0.384000	0.25694	CAA		PASS	0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		21	163	21	163	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37478449	37478449	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:37478449C>G	ENST00000602533.1	+	25	2407	c.2308C>G	c.(2308-2310)Caa>Gaa	p.Q770E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q770E|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q889E|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	826					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q770E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCTACGCATCAAAAAGAAAT	0.299																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(2308-2310)CAA>GAA		ankyrin repeat domain 30A							13.0	10.0	11.0					10																	37478449		371	991	1362	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37478449C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2308C>G	10.37:g.37478449C>G	ENSP00000473551:p.Gln770Glu						p.Q770E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			25	2407	+			826					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2308C>G		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.441815	0.00180	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06218	3.33;3.33	0.746	-0.504	0.11997	.	.	.	.	.	T	0.05547	0.0146	L	0.46157	1.445	0.09310	N	1	B	0.27068	0.167	B	0.34489	0.184	T	0.46735	-0.9170	9	0.07175	T	0.84	.	4.373	0.11256	0.0:0.5707:0.4293:0.0	.	826	Q9BXX3	AN30A_HUMAN	E	770;889	ENSP00000354432:Q770E;ENSP00000363792:Q889E	ENSP00000354432:Q770E	Q	+	1	0	ANKRD30A	37518455	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.120000	0.15647	-0.154000	0.11118	0.409000	0.27619	CAA		PASS	0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	13	7	13	---	---	---	---
CDK1	983	broad.mit.edu	37	10	62544477	62544477	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:62544477G>C	ENST00000395284.3	+	3	194	c.52G>C	c.(52-54)Gtg>Ctg	p.V18L	CDK1_ENST00000316629.4_Missense_Mutation_p.V18L|CDK1_ENST00000373809.2_Missense_Mutation_p.V18L|CDK1_ENST00000448257.2_Missense_Mutation_p.V18L	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	18	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.V18L(1)		ovary(1)	1						CTATGGAGTTGTGTATAAGGG	0.388																																						uc001jld.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)GTG>CTG		cell division cycle 2 isoform 1							100.0	101.0	101.0					10																	62544477		2203	4300	6503	SO:0001583	missense	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62544477G>C	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.52G>C	10.37:g.62544477G>C	ENSP00000378699:p.Val18Leu					CDK1_uc010qii.1_Missense_Mutation_p.V18L|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.V18L|CDK1_uc001jlg.2_Missense_Mutation_p.V18L	p.V18L	NM_001786	NP_001777	P06493	CDK1_HUMAN			3	186	+			18			ATP (By similarity).|Protein kinase.		A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	c.52G>C	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455869	0.84209	.	.	ENSG00000170312	ENST00000519078;ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	6.17	4.31	0.51392	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	0.87688	0.6240	H	0.94582	3.555	0.80722	D	1	P;B;B;D	0.89917	0.547;0.127;0.022;1.0	P;B;B;D	0.91635	0.627;0.12;0.075;0.999	D	0.90875	0.4749	10	0.72032	D	0.01	-11.3113	13.6243	0.62155	0.1272:0.0:0.8728:0.0	.	18;18;18;18	B7Z3D6;P06493-2;Q5H9N4;P06493	.;.;.;CDK1_HUMAN	L	18	ENSP00000378699:V18L;ENSP00000325970:V18L;ENSP00000397973:V18L;ENSP00000362915:V18L	ENSP00000325970:V18L	V	+	1	0	CDK1	62214483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.532000	0.81985	1.626000	0.50381	0.655000	0.94253	GTG		PASS	0.388	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		26	67	26	67	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68280473	68280473	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:68280473G>T	ENST00000433211.2	-	11	1607	c.1433C>A	c.(1432-1434)aCc>aAc	p.T478N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T478N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T478N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATTTCCATGGTGTTTTTGAC	0.388																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1432-1434)ACC>AAC		catenin, alpha 3							188.0	160.0	170.0					10																	68280473		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68280473G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1433C>A	10.37:g.68280473G>T	ENSP00000389714:p.Thr478Asn					CTNNA3_uc001jmw.2_Missense_Mutation_p.T478N|CTNNA3_uc001jmx.3_Missense_Mutation_p.T478N	p.T478N	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			11	1556	-			478						Missense_Mutation	SNP	ENST00000433211.2	37	c.1433C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	2.922	-0.223013	0.06061	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.25579	1.79;1.79	5.43	3.22	0.36961	.	0.216990	0.32068	N	0.006637	T	0.03915	0.0110	N	0.00053	-2.39	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.42766	-0.9432	10	0.02654	T	1	-11.0579	12.1047	0.53805	0.0:0.0:0.6436:0.3564	.	478;478	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	N	478	ENSP00000389714:T478N;ENSP00000362849:T478N	ENSP00000362849:T478N	T	-	2	0	CTNNA3	67950479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.168000	0.50801	1.371000	0.46172	0.650000	0.86243	ACC		PASS	0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		19	67	19	67	---	---	---	---
HERC4	26091	broad.mit.edu	37	10	69700823	69700823	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:69700823T>A	ENST00000395198.3	-	21	2648	c.2401A>T	c.(2401-2403)Atc>Ttc	p.I801F	HERC4_ENST00000277817.6_Missense_Mutation_p.I691F|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000373700.4_Missense_Mutation_p.I793F|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	801	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I801F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAGCCACAGATAACACCAATC	0.303																																						uc001jng.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2401-2403)ATC>TTC		hect domain and RLD 4 isoform a							102.0	104.0	104.0					10																	69700823		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69700823T>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2401A>T	10.37:g.69700823T>A	ENSP00000378624:p.Ile801Phe					HERC4_uc009xpq.2_Missense_Mutation_p.I334F|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.I793F|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.I537F	p.I801F	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			21	2712	-			801			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.2401A>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196485	0.38806	.	.	ENSG00000148634	ENST00000277817;ENST00000395198;ENST00000373700	T;T;T	0.44482	0.92;0.92;0.92	5.66	4.52	0.55395	HECT (4);	0.184221	0.52532	D	0.000074	T	0.44644	0.1303	L	0.51853	1.615	0.80722	D	1	P;P;P;P	0.46064	0.845;0.752;0.845;0.872	P;P;P;P	0.50896	0.642;0.653;0.522;0.653	T	0.41342	-0.9514	10	0.72032	D	0.01	.	6.2691	0.20945	0.0:0.2979:0.0:0.7021	.	691;651;793;801	Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	F	691;801;793	ENSP00000277817:I691F;ENSP00000378624:I801F;ENSP00000362804:I793F	ENSP00000277817:I691F	I	-	1	0	HERC4	69370829	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	2.484000	0.45242	0.963000	0.38082	0.528000	0.53228	ATC		PASS	0.303	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		27	78	27	78	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70644923	70644923	+	Silent	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:70644923T>A	ENST00000298596.6	+	3	1454	c.1371T>A	c.(1369-1371)gcT>gcA	p.A457A	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.A347A|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.A457A	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	457						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A457A(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGCTCCCTGCTACACAGCCCA	0.473																																						uc001jos.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(1369-1371)GCT>GCA		storkhead box 1 isoform a							94.0	96.0	95.0					10																	70644923		1896	4104	6000	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644923T>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1371T>A	10.37:g.70644923T>A						STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.A347A	p.A457A	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	1458	+			457					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.1371T>A	CCDS41535.1																																																																																				PASS	0.473	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		45	100	45	100	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75562762	75562762	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:75562762G>C	ENST00000309979.6	-	13	2947	c.2391C>G	c.(2389-2391)atC>atG	p.I797M	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|NDST2_ENST00000299641.4_Missense_Mutation_p.I674M			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	797	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.I797M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GAAAGGGTGTGATACCCAGGA	0.532																																						uc001jvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2389-2391)ATC>ATG		heparan glucosaminyl							207.0	208.0	208.0					10																	75562762		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75562762G>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2391C>G	10.37:g.75562762G>C	ENSP00000310657:p.Ile797Met					NDST2_uc010qks.1_Missense_Mutation_p.I423M|NDST2_uc010qkt.1_Missense_Mutation_p.I674M|NDST2_uc001jvl.1_Missense_Mutation_p.I204M|NDST2_uc009xro.2_Missense_Mutation_p.I423M|NDST2_uc010qku.1_Missense_Mutation_p.I672M	p.I797M	NM_003635	NP_003626	P52849	NDST2_HUMAN			13	3195	-	Prostate(51;0.0112)		797			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.2391C>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486192	0.44147	.	.	ENSG00000166507	ENST00000309979;ENST00000299641;ENST00000429742	D;D;D	0.84660	-1.88;-1.88;-1.88	6.07	6.07	0.98685	Sulfotransferase domain (1);	0.210396	0.49305	D	0.000159	D	0.90916	0.7145	M	0.85041	2.73	0.50313	D	0.999866	B;P;B;B	0.41929	0.15;0.765;0.425;0.15	P;P;P;B	0.57911	0.451;0.829;0.553;0.384	D	0.91172	0.4969	10	0.87932	D	0	.	7.1778	0.25755	0.1058:0.1706:0.7237:0.0	.	674;467;320;797	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	M	797;674;78	ENSP00000310657:I797M;ENSP00000299641:I674M;ENSP00000392733:I78M	ENSP00000299641:I674M	I	-	3	3	NDST2	75232768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.366000	0.34193	2.884000	0.98904	0.655000	0.94253	ATC		PASS	0.532	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		49	116	49	116	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84711279	84711279	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:84711279G>A	ENST00000404547.1	+	5	1109	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	NRG3_ENST00000372141.2_Missense_Mutation_p.G370E|NRG3_ENST00000537893.1_Missense_Mutation_p.G20E|NRG3_ENST00000404576.2_Missense_Mutation_p.G174E|NRG3_ENST00000372142.2_Missense_Mutation_p.G149E|NRG3_ENST00000556918.1_Missense_Mutation_p.G200E|NRG3_ENST00000545131.1_Missense_Mutation_p.G20E			P56975	NRG3_HUMAN	neuregulin 3	370					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.G370E(1)|p.G149E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATCATCTTTGGAATTGTCATC	0.378																																						uc001kco.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(1108-1110)GGA>GAA		neuregulin 3 isoform 1							240.0	221.0	227.0					10																	84711279		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84711279G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1109G>A	10.37:g.84711279G>A	ENSP00000384796:p.Gly370Glu					NRG3_uc010qlz.1_Missense_Mutation_p.G369E|NRG3_uc001kcp.2_Missense_Mutation_p.G149E|NRG3_uc001kcq.2_Missense_Mutation_p.G20E|NRG3_uc001kcr.2_Missense_Mutation_p.G20E	p.G370E	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	5	1136	+			370			Helical; Note=Internal signal sequence; (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1109G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492937	0.84962	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52295	1.24;1.25;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.267555	0.31859	N	0.006941	T	0.66187	0.2764	L	0.53249	1.67	0.53688	D	0.999975	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;1.0;0.999	T	0.66348	-0.5946	10	0.87932	D	0	.	17.8527	0.88752	0.0:0.0:1.0:0.0	.	369;370;149;370	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	E	370;370;369;149;174;200;20;20	ENSP00000361214:G370E;ENSP00000384796:G370E;ENSP00000361215:G149E;ENSP00000385804:G174E;ENSP00000451376:G200E;ENSP00000441201:G20E;ENSP00000440377:G20E	ENSP00000361214:G370E	G	+	2	0	NRG3	84701259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.448000	0.66612	2.818000	0.97014	0.632000	0.83419	GGA		PASS	0.378	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		30	54	30	54	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97174445	97174445	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:97174445T>G	ENST00000361941.3	-	7	642	c.616A>C	c.(616-618)Act>Cct	p.T206P	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.T206P|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.T197P|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.T197P|SORBS1_ENST00000371227.4_Missense_Mutation_p.T206P|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.T206P|SORBS1_ENST00000371249.2_Missense_Mutation_p.T174P|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.T206P	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.T206P(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCATCTAGAGTCGGGAAGGTC	0.637																																						uc001kkp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(616-618)ACT>CCT		sorbin and SH3 domain containing 1 isoform 3							50.0	55.0	53.0					10																	97174445		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174445T>G	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.616A>C	10.37:g.97174445T>G	ENSP00000355136:p.Thr206Pro					SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.T206P|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.T174P|SORBS1_uc001kkw.2_Missense_Mutation_p.T206P|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.T404P|SORBS1_uc001kkx.1_Missense_Mutation_p.T174P	p.T206P	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	661	-		Colorectal(252;0.0429)	206						Missense_Mutation	SNP	ENST00000361941.3	37	c.616A>C	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028902	0.75504	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.48836	1.6;0.8;1.6;0.8;0.8;0.8;0.8;0.8	5.68	5.68	0.88126	.	0.000000	0.43579	D	0.000555	T	0.66036	0.2749	L	0.57536	1.79	0.80722	D	1	D;D;D;B;D;D	0.89917	0.999;1.0;1.0;0.037;0.999;1.0	D;D;D;B;D;D	0.85130	0.996;0.995;0.997;0.024;0.996;0.996	T	0.68588	-0.5369	10	0.72032	D	0.01	-12.0385	15.9389	0.79739	0.0:0.0:0.0:1.0	.	404;174;206;174;206;206	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	P	174;206;206;206;197;206;206;197	ENSP00000360295:T174P;ENSP00000360293:T206P;ENSP00000360271:T206P;ENSP00000360292:T206P;ENSP00000377521:T197P;ENSP00000355136:T206P;ENSP00000277982:T206P;ENSP00000277984:T197P	ENSP00000277982:T206P	T	-	1	0	SORBS1	97164435	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.800000	0.69108	2.177000	0.69029	0.454000	0.30748	ACT		PASS	0.637	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			6	30	6	30	---	---	---	---
C10orf76	79591	broad.mit.edu	37	10	103792914	103792914	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:103792914G>A	ENST00000370033.4	-	4	294	c.175C>T	c.(175-177)Cta>Tta	p.L59L	C10orf76_ENST00000311122.5_Silent_p.L59L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	59						integral component of membrane (GO:0016021)		p.L59L(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTGCCTTCTAGGTACTCTAAA	0.413																																						uc009xwy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(175-177)CTA>TTA		hypothetical protein LOC79591							114.0	104.0	107.0					10																	103792914		1880	4131	6011	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103792914G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.175C>T	10.37:g.103792914G>A						C10orf76_uc001kui.2_Silent_p.L59L	p.L59L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	4	277	-		Colorectal(252;0.123)	59					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.175C>T	CCDS41563.1																																																																																				PASS	0.413	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		18	57	18	57	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112359487	112359487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:112359487G>T	ENST00000361804.4	+	21	2470	c.2344G>T	c.(2344-2346)Gga>Tga	p.G782*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	782					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.G782*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGCAGAACTGGGAACTGATTT	0.418																																						uc001kze.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2344-2346)GGA>TGA		structural maintenance of chromosomes 3							129.0	120.0	123.0					10																	112359487		2203	4300	6503	SO:0001587	stop_gained	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112359487G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2344G>T	10.37:g.112359487G>T	ENSP00000354720:p.Gly782*						p.G782*	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	21	2470	+		Breast(234;0.0848)|Lung NSC(174;0.238)	782			Potential.		A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	ENST00000361804.4	37	c.2344G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	41	8.674982	0.98910	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.3213	0.94240	0.0:0.0:1.0:0.0	.	.	.	.	X	782	.	ENSP00000354720:G782X	G	+	1	0	SMC3	112349477	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	9.209000	0.95087	2.579000	0.87056	0.305000	0.20034	GGA		PASS	0.418	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		5	59	5	59	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117226718	117226718	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:117226718C>G	ENST00000355044.3	+	23	3578	c.3452C>G	c.(3451-3453)tCa>tGa	p.S1151*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.S202*|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1151					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S1151*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTAATGCATCAAACAACTTT	0.294																																						uc001lcg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3451-3453)TCA>TGA		attractin-like 1 precursor							142.0	135.0	137.0					10																	117226718		2201	4295	6496	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:117226718C>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3452C>G	10.37:g.117226718C>G	ENSP00000347152:p.Ser1151*					ATRNL1_uc010qsm.1_Nonsense_Mutation_p.S280*|ATRNL1_uc010qsn.1_Intron	p.S1151*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3838	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1151			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.3452C>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	39	7.871285	0.98537	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	.	.	.	4.69	4.69	0.59074	.	0.129303	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.1558	17.9819	0.89144	0.0:1.0:0.0:0.0	.	.	.	.	X	1151;202	.	ENSP00000347152:S1151X	S	+	2	0	ATRNL1	117216708	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.311000	0.77944	0.655000	0.94253	TCA		PASS	0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		6	25	6	25	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123263411	123263411	+	Silent	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:123263411C>G	ENST00000358487.5	-	10	1604	c.1332G>C	c.(1330-1332)ctG>ctC	p.L444L	FGFR2_ENST00000369060.4_Silent_p.L328L|FGFR2_ENST00000457416.2_Silent_p.L445L|FGFR2_ENST00000369061.4_Silent_p.L332L|FGFR2_ENST00000356226.4_Silent_p.L327L|FGFR2_ENST00000360144.3_Silent_p.L356L|FGFR2_ENST00000478859.1_Silent_p.L216L|FGFR2_ENST00000351936.6_Silent_p.L442L|FGFR2_ENST00000369056.1_Silent_p.L445L|FGFR2_ENST00000357555.5_Silent_p.L355L|FGFR2_ENST00000346997.2_Silent_p.L442L|FGFR2_ENST00000369059.1_Silent_p.L330L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	444					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.L444L(1)|p.L442L(1)|p.L445L(1)|p.L355L(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTATCCTCACCAGCGGGGTGT	0.532		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		4	Substitution - coding silent(4)		lung(4)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1330-1332)CTG>CTC		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						92.0	81.0	85.0					10																	123263411		2203	4300	6503	SO:0001819	synonymous_variant	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123263411C>G	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1332G>C	10.37:g.123263411C>G						FGFR2_uc010qtg.1_Silent_p.L332L|FGFR2_uc010qth.1_Silent_p.L329L|FGFR2_uc010qti.1_Silent_p.L355L|FGFR2_uc010qtj.1_Silent_p.L445L|FGFR2_uc010qtl.1_Silent_p.L328L|FGFR2_uc010qtm.1_Silent_p.L327L|FGFR2_uc001lfl.3_Silent_p.L445L|FGFR2_uc001lfm.2_Silent_p.L356L|FGFR2_uc001lfg.3_Silent_p.L52L	p.L444L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	11	1979	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	444			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.1332G>C	CCDS31298.1																																																																																				PASS	0.532	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		13	23	13	23	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124390741	124390741	+	Missense_Mutation	SNP	G	G	T	rs149958745	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:124390741G>T	ENST00000338354.3	+	46	6009	c.5903G>T	c.(5902-5904)cGa>cTa	p.R1968L	DMBT1_ENST00000368909.3_Missense_Mutation_p.R1968L|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1958L|DMBT1_ENST00000359586.6_Missense_Mutation_p.R688L|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1340L|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1340L|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1958L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1968	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R1968L(2)|p.R2097L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCCGGAACCGAGGCTGGTTC	0.547																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(5902-5904)CGA>CTA		deleted in malignant brain tumors 1 isoform b							153.0	149.0	151.0					10																	124390741		2046	4196	6242	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390741G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5903G>T	10.37:g.124390741G>T	ENSP00000342210:p.Arg1968Leu					DMBT1_uc001lgl.1_Missense_Mutation_p.R1958L|DMBT1_uc001lgm.1_Missense_Mutation_p.R1340L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1968L|DMBT1_uc010qtx.1_Missense_Mutation_p.R688L|DMBT1_uc009yab.1_Missense_Mutation_p.R671L|DMBT1_uc009yac.1_Missense_Mutation_p.R262L	p.R1968L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			46	6009	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1968			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5903G>T		.	.	.	.	.	.	.	.	.	.	G	19.25	3.790896	0.70452	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.56	-1.87	0.07737	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.31734	0.0806	L	0.52759	1.655	0.09310	N	1	P;D;P;D;P;D;P	0.67145	0.894;0.966;0.785;0.99;0.875;0.996;0.704	B;P;B;D;B;D;P	0.70716	0.388;0.808;0.193;0.955;0.433;0.97;0.507	T	0.24941	-1.0146	9	0.29301	T	0.29	.	7.8724	0.29573	0.4723:0.1127:0.415:0.0	.	688;1948;1217;2097;1340;1958;1968	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	1968;2097;1968;1968;1968;1968;1340;1958;1340;1340;1968;1958;1340;114;688	ENSP00000342210:R1968L;ENSP00000343175:R1958L;ENSP00000327747:R1340L;ENSP00000357905:R1968L;ENSP00000357951:R1958L;ENSP00000357952:R1340L;ENSP00000352593:R688L	ENSP00000331522:R1340L	R	+	2	0	DMBT1	124380731	0.000000	0.05858	0.000000	0.03702	0.881000	0.50899	-2.513000	0.00957	-0.184000	0.10567	-0.141000	0.14075	CGA		PASS	0.547	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	153	5	153	---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126631403	126631403	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:126631403G>T	ENST00000359653.4	+	1	712	c.341G>T	c.(340-342)aGg>aTg	p.R114M	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	114					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R114M(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CGTAGGACCAGGAGTCCTACA	0.433																																						uc001lic.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(340-342)AGG>ATG		zinc finger, RAN-binding domain containing 1							112.0	102.0	106.0					10																	126631403		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631403G>T	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.341G>T	10.37:g.126631403G>T	ENSP00000352676:p.Arg114Met					ZRANB1_uc010qug.1_Missense_Mutation_p.R140M	p.R114M	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	712	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	114					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.341G>T	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614163	0.46631	.	.	ENSG00000019995	ENST00000359653	T	0.18338	2.22	5.78	5.78	0.91487	.	0.294079	0.38548	N	0.001642	T	0.16514	0.0397	L	0.29908	0.895	0.49915	D	0.999835	B	0.27068	0.167	B	0.22152	0.038	T	0.02676	-1.1125	10	0.46703	T	0.11	-11.3308	19.9991	0.97403	0.0:0.0:1.0:0.0	.	114	Q9UGI0	ZRAN1_HUMAN	M	114	ENSP00000352676:R114M	ENSP00000352676:R114M	R	+	2	0	ZRANB1	126621393	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.789000	0.62446	2.724000	0.93272	0.655000	0.94253	AGG		PASS	0.433	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		7	82	7	82	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134175004	134175004	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr10:134175004G>T	ENST00000368614.3	+	9	1319	c.1214G>T	c.(1213-1215)aGg>aTg	p.R405M	LRRC27_ENST00000368613.4_Missense_Mutation_p.R405M|LRRC27_ENST00000432555.2_Missense_Mutation_p.R278M|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R343M|LRRC27_ENST00000368610.3_Missense_Mutation_p.R343M	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	405								p.R405M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATAGATAACAGGAAAGTACCA	0.423																																						uc010quw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1213-1215)AGG>ATG		leucine rich repeat containing 27 isoform a							125.0	128.0	127.0					10																	134175004		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134175004G>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1214G>T	10.37:g.134175004G>T	ENSP00000357603:p.Arg405Met					LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.R405M|LRRC27_uc001llj.2_Missense_Mutation_p.R343M|LRRC27_uc001llk.3_Missense_Mutation_p.R278M	p.R405M	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	9	1409	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	405					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1214G>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913803	0.17907	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T	0.44482	2.46;2.46;4.22;4.22;0.92	3.36	1.24	0.21308	.	1.031760	0.07739	N	0.946656	T	0.27169	0.0666	N	0.22421	0.69	0.09310	N	1	P;P;B	0.34546	0.456;0.456;0.327	B;B;B	0.34242	0.178;0.178;0.087	T	0.25950	-1.0117	10	0.52906	T	0.07	-6.7126	3.9646	0.09426	0.6486:0.0:0.3514:0.0	.	278;343;405	B4DW88;Q9C0I9-2;Q9C0I9	.;.;LRC27_HUMAN	M	405;405;343;343;278	ENSP00000357603:R405M;ENSP00000357602:R405M;ENSP00000357601:R343M;ENSP00000357599:R343M;ENSP00000407949:R278M	ENSP00000357599:R343M	R	+	2	0	LRRC27	134024994	0.129000	0.22400	0.002000	0.10522	0.002000	0.02628	0.971000	0.29396	0.299000	0.22661	0.655000	0.94253	AGG		PASS	0.423	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		7	173	7	173	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5410783	5410783	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:5410783C>T	ENST00000328611.3	+	1	177	c.155C>T	c.(154-156)tCa>tTa	p.S52L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	52					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.S52L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCCATCTCAGGCAATTGT	0.453																																						uc010qzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)TCA>TTA		olfactory receptor, family 51, subfamily M,							170.0	158.0	162.0					11																	5410783		1968	4157	6125	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410783C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.155C>T	11.37:g.5410783C>T	ENSP00000333196:p.Ser52Leu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S52L	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	155	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	52					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.155C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.104644	0.00356	.	.	ENSG00000184698	ENST00000328611	T	0.00220	8.52	5.01	1.93	0.25924	.	0.600899	0.12067	U	0.502594	T	0.00039	0.0001	N	0.00538	-1.39	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.02574	-1.1139	10	0.10902	T	0.67	.	5.3788	0.16179	0.0:0.5223:0.0:0.4777	.	41	Q9H341	O51M1_HUMAN	L	52	ENSP00000333196:S52L	ENSP00000333196:S52L	S	+	2	0	OR51M1	5367359	0.000000	0.05858	0.334000	0.25495	0.006000	0.05464	0.933000	0.28897	0.708000	0.31955	-0.145000	0.13849	TCA		PASS	0.453	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		27	63	27	63	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462289	5462289	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:5462289G>T	ENST00000380211.1	-	1	455	c.456C>A	c.(454-456)acC>acA	p.T152T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	152					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.T152T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAACTCTTGGTAAGGATGC	0.473																																						uc010qze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(454-456)ACC>ACA		olfactory receptor, family 51, subfamily I,							124.0	98.0	107.0					11																	5462289		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462289G>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.456C>A	11.37:g.5462289G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T152T	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	456	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	152			Helical; Name=4; (Potential).		B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.456C>A	CCDS31382.1																																																																																				PASS	0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		6	62	6	62	---	---	---	---
OR52N1	79473	broad.mit.edu	37	11	5809636	5809636	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:5809636G>A	ENST00000317078.1	-	1	410	c.411C>T	c.(409-411)atC>atT	p.I137I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I137I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATTAGTGAGGATGGTGGCAT	0.517																																						uc010qzo.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(409-411)ATC>ATT		olfactory receptor, family 52, subfamily N,							138.0	119.0	126.0					11																	5809636		2201	4296	6497	SO:0001819	synonymous_variant	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809636G>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.411C>T	11.37:g.5809636G>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I137I	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	411	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	137			Cytoplasmic (Potential).		Q6IFF6	Silent	SNP	ENST00000317078.1	37	c.411C>T	CCDS31398.1																																																																																				PASS	0.517	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		19	54	19	54	---	---	---	---
OR52W1	120787	broad.mit.edu	37	11	6221231	6221231	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:6221231G>T	ENST00000311352.2	+	1	856	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G260C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACATACCTGGTCTCTTCTC	0.542																																						uc010qzz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GGT>TGT		olfactory receptor, family 52, subfamily W,							452.0	403.0	420.0					11																	6221231		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221231G>T	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.778G>T	11.37:g.6221231G>T	ENSP00000309673:p.Gly260Cys						p.G260C	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	778	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	260			Helical; Name=6; (Potential).		Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.778G>T	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.677924	0.47886	.	.	ENSG00000175485	ENST00000311352	T	0.37235	1.21	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001379	T	0.55832	0.1945	M	0.68952	2.095	0.32108	N	0.58968	D	0.89917	1.0	D	0.77004	0.989	T	0.65500	-0.6153	10	0.72032	D	0.01	.	11.3932	0.49825	0.0835:0.0:0.9165:0.0	.	260	Q6IF63	O52W1_HUMAN	C	260	ENSP00000309673:G260C	ENSP00000309673:G260C	G	+	1	0	OR52W1	6177807	0.017000	0.18338	1.000000	0.80357	0.839000	0.47603	1.956000	0.40382	2.518000	0.84900	0.563000	0.77884	GGT		PASS	0.542	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		8	353	8	353	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898702	6898702	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:6898702T>A	ENST00000379829.2	+	1	847	c.824T>A	c.(823-825)cTg>cAg	p.L275Q		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	275					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L275Q(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGAAGCTGCTGTCACTCTCT	0.512																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)CTG>CAG		olfactory receptor, family 10, subfamily A,							148.0	134.0	139.0					11																	6898702		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898702T>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.824T>A	11.37:g.6898702T>A	ENSP00000369157:p.Leu275Gln						p.L275Q	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	824	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	275			Helical; Name=7; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.824T>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	11.47	1.647548	0.29246	.	.	ENSG00000170782	ENST00000379829	T	0.41758	0.99	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35708	N	0.003029	T	0.66963	0.2843	M	0.88640	2.97	0.09310	N	0.999998	D	0.76494	0.999	D	0.73380	0.98	T	0.61773	-0.6994	10	0.87932	D	0	.	11.7455	0.51817	0.0:0.0:0.0:1.0	.	275	Q9H209	O10A4_HUMAN	Q	275	ENSP00000369157:L275Q	ENSP00000369157:L275Q	L	+	2	0	OR10A4	6855278	0.010000	0.17322	0.216000	0.23742	0.154000	0.21943	1.409000	0.34680	2.092000	0.63282	0.529000	0.55759	CTG		PASS	0.512	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		41	121	41	121	---	---	---	---
SWAP70	23075	broad.mit.edu	37	11	9715738	9715738	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:9715738C>A	ENST00000318950.6	+	2	248	c.145C>A	c.(145-147)Cca>Aca	p.P49T	SWAP70_ENST00000447399.2_Missense_Mutation_p.P49T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	49					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.P49T(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TCCTCATGACCCAGTTGCCCT	0.473																																						uc001mhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(145-147)CCA>ACA		SWAP-70 protein							156.0	132.0	140.0					11																	9715738		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9715738C>A	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.145C>A	11.37:g.9715738C>A	ENSP00000315630:p.Pro49Thr					SWAP70_uc001mhv.2_Missense_Mutation_p.P49T|SWAP70_uc001mhx.2_Missense_Mutation_p.P49T	p.P49T	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	2	244	+			49					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.145C>A	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659023	0.67586	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	D;T	0.86230	-2.09;2.92	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	L	0.53561	1.675	0.58432	D	0.999999	P;P;P	0.38535	0.635;0.635;0.635	B;B;B	0.32805	0.081;0.153;0.14	D	0.85408	0.1135	10	0.56958	D	0.05	-12.1072	20.3539	0.98825	0.0:1.0:0.0:0.0	.	49;49;49	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	T	49	ENSP00000399056:P49T;ENSP00000315630:P49T	ENSP00000315630:P49T	P	+	1	0	SWAP70	9672314	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CCA		PASS	0.473	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	72	5	72	---	---	---	---
SWAP70	23075	broad.mit.edu	37	11	9759834	9759834	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:9759834C>A	ENST00000318950.6	+	8	1258	c.1155C>A	c.(1153-1155)gcC>gcA	p.A385A	SWAP70_ENST00000447399.2_Silent_p.A327A	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	385				A -> S (in Ref. 7). {ECO:0000305}.	isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.A385A(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AACTTCAGGCCAGGTTCAGCA	0.522																																						uc001mhw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1153-1155)GCC>GCA		SWAP-70 protein							63.0	60.0	61.0					11																	9759834		2201	4294	6495	SO:0001819	synonymous_variant	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9759834C>A	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1155C>A	11.37:g.9759834C>A						SWAP70_uc001mhv.2_Silent_p.A385A|SWAP70_uc001mhx.2_Silent_p.A327A	p.A385A	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	8	1254	+			385	A -> S (in Ref. 7).		Potential.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Silent	SNP	ENST00000318950.6	37	c.1155C>A	CCDS31426.1																																																																																				PASS	0.522	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	39	5	39	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17430031	17430031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:17430031C>A	ENST00000389817.3	-	23	2796	c.2728G>T	c.(2728-2730)Gag>Tag	p.E910*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.E911*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	910	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.E910*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGTACCCTCCCTCTGGATG	0.547																																						uc001mnc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2728-2730)GAG>TAG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						121.0	115.0	117.0					11																	17430031		2200	4293	6493	SO:0001587	stop_gained	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17430031C>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2728G>T	11.37:g.17430031C>A	ENSP00000374467:p.Glu910*						p.E910*	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	23	2854	-			910			ABC transporter 1.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	ENST00000389817.3	37	c.2728G>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	42	9.585397	0.99211	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.7754	0.91910	0.0:1.0:0.0:0.0	.	.	.	.	X	910;911;914	.	ENSP00000303960:E911X	E	-	1	0	ABCC8	17386607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		6	86	6	86	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17554867	17554867	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:17554867C>A	ENST00000318024.4	-	2	147	c.39G>T	c.(37-39)gtG>gtT	p.V13V	USH1C_ENST00000527720.1_5'UTR|USH1C_ENST00000005226.7_Silent_p.V13V|USH1C_ENST00000527020.1_Silent_p.V13V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	13	N-terminal domain.				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.V13V(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						TCAGAAAATCCACCTGGAAAA	0.532																																						uc001mnf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(37-39)GTG>GTT		harmonin isoform a							93.0	89.0	90.0					11																	17554867		2200	4293	6493	SO:0001819	synonymous_variant	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.chr11:17554867C>A	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.39G>T	11.37:g.17554867C>A						USH1C_uc001mne.2_Silent_p.V13V|USH1C_uc009yhb.2_Silent_p.V13V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR	p.V13V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			2	148	-			13					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.39G>T	CCDS31438.1																																																																																				PASS	0.532	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		17	58	17	58	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19246901	19246901	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:19246901G>T	ENST00000527884.1	-	12	2520	c.2288C>A	c.(2287-2289)cCa>cAa	p.P763Q	E2F8_ENST00000250024.4_Missense_Mutation_p.P763Q|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	763					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P763Q(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTATTCTTGGAGACACAGG	0.532																																						uc001mpm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2287-2289)CCA>CAA		E2F family member 8							117.0	113.0	114.0					11																	19246901		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246901G>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2288C>A	11.37:g.19246901G>T	ENSP00000434199:p.Pro763Gln					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.P763Q	p.P763Q	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			12	2810	-			763					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2288C>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605459	0.46423	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.20200	2.09;2.09	5.98	5.98	0.97165	.	0.368712	0.28653	N	0.014596	T	0.24774	0.0601	M	0.65975	2.015	0.45172	D	0.998187	P	0.39480	0.675	B	0.28553	0.091	T	0.04440	-1.0951	10	0.46703	T	0.11	-14.774	20.0471	0.97613	0.0:0.0:1.0:0.0	.	763	A0AVK6	E2F8_HUMAN	Q	763	ENSP00000434199:P763Q;ENSP00000250024:P763Q	ENSP00000250024:P763Q	P	-	2	0	E2F8	19203477	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	3.011000	0.49567	2.838000	0.97847	0.591000	0.81541	CCA		PASS	0.532	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		6	130	6	130	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30925135	30925135	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:30925135C>T	ENST00000597505.1	-	30	4403	c.4404G>A	c.(4402-4404)ttG>ttA	p.L1468L	DCDC1_ENST00000406071.2_Silent_p.L203L|DCDC1_ENST00000339794.5_Silent_p.L547L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.L155L(1)|p.L547L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCATAAAACCAAATCACGCA	0.423																																						uc001mss.1																			2	Substitution - coding silent(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							68.0	60.0	63.0					11																	30925135		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr11:30925135C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4404G>A	11.37:g.30925135C>T						uc009yjk.1_Silent_p.L916L|uc009yjj.1_RNA								10		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1507G>A																																																																																					PASS	0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		11	24	11	24	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47767661	47767661	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:47767661C>G	ENST00000263773.5	-	7	1204	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	398						nucleus (GO:0005634)		p.E398Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCCTCTTCCTCCTCACTTTCT	0.388																																						uc009ylv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)GAG>CAG		formin binding protein 4							224.0	213.0	217.0					11																	47767661		1858	4098	5956	SO:0001583	missense	23360							g.chr11:47767661C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1192G>C	11.37:g.47767661C>G	ENSP00000263773:p.Glu398Gln					FNBP4_uc001ngj.2_Missense_Mutation_p.E305Q|FNBP4_uc001ngl.2_RNA	p.E398Q	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			7	1345	-			398					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1192G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984512	0.93044	.	.	ENSG00000109920	ENST00000263773	T	0.44881	0.91	5.88	5.88	0.94601	.	0.045054	0.85682	D	0.000000	T	0.55401	0.1918	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.48186	-0.9057	10	0.38643	T	0.18	-18.3688	20.2266	0.98341	0.0:1.0:0.0:0.0	.	398	Q8N3X1	FNBP4_HUMAN	Q	398	ENSP00000263773:E398Q	ENSP00000263773:E398Q	E	-	1	0	FNBP4	47724237	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.747000	0.74872	2.769000	0.95229	0.655000	0.94253	GAG		PASS	0.388	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			41	114	41	114	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606318	55606318	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:55606318T>A	ENST00000378396.1	+	1	91	c.91T>A	c.(91-93)Ttt>Att	p.F31I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTCTTCTTTGTATTTCT	0.413																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(91-93)TTT>ATT		olfactory receptor, family 5, subfamily D,							120.0	112.0	115.0					11																	55606318		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606318T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.91T>A	11.37:g.55606318T>A	ENSP00000367649:p.Phe31Ile						p.F31I	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	91	+		all_epithelial(135;0.208)	31			Helical; Name=1; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.91T>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822524	0.32237	.	.	ENSG00000205029	ENST00000378396	T	0.00231	8.49	4.15	-1.49	0.08718	.	.	.	.	.	T	0.00073	0.0002	N	0.02334	-0.595	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.00827	-1.1550	9	0.21014	T	0.42	-10.501	6.0957	0.20019	0.0:0.4332:0.1505:0.4163	.	31	Q8NGK9	OR5DG_HUMAN	I	31	ENSP00000367649:F31I	ENSP00000367649:F31I	F	+	1	0	OR5D16	55362894	0.000000	0.05858	0.137000	0.22149	0.826000	0.46750	-6.332000	0.00070	-0.099000	0.12263	0.433000	0.28618	TTT		PASS	0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		18	65	18	65	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606815	55606815	+	Silent	SNP	C	C	T	rs370499723|rs147515254	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:55606815C>T	ENST00000378396.1	+	1	588	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L196L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACTCTTATCTCAGCCAGTTGC	0.383																																						uc010rio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(586-588)CTC>CTT		olfactory receptor, family 5, subfamily D,		C		2,4398		1,0,2199	181.0	162.0	169.0		588	1.1	0.0	11		169	0,8592		0,0,4296	no	coding-synonymous	OR5D16	NM_001005496.1		1,0,6495	TT,TC,CC		0.0,0.0455,0.0154		196/329	55606815	2,12990	2200	4296	6496	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606815C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.588C>T	11.37:g.55606815C>T							p.L196L	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	588	+		all_epithelial(135;0.208)	196			Extracellular (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.588C>T	CCDS31512.1																																																																																				PASS	0.383	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		11	67	11	67	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344480	56344480	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:56344480T>A	ENST00000526812.2	-	1	783	c.718A>T	c.(718-720)Acg>Tcg	p.T240S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T240S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGCACACGTAGAAAAGGCT	0.448																																						uc001niz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)ACG>TCG		olfactory receptor, family 5, subfamily M,							66.0	62.0	63.0					11																	56344480		1800	4032	5832	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344480T>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.718A>T	11.37:g.56344480T>A	ENSP00000436004:p.Thr240Ser						p.T240S	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	718	-			240			Helical; Name=6; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.718A>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336341	0.41398	.	.	ENSG00000254834	ENST00000526812	T	0.40476	1.03	4.2	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69708	0.3141	H	0.96547	3.84	0.36477	D	0.86763	P	0.51791	0.948	P	0.61874	0.895	T	0.78283	-0.2264	9	0.87932	D	0	.	9.0081	0.36124	0.0:0.091:0.0:0.909	.	240	Q6IEU7	OR5MA_HUMAN	S	240	ENSP00000436004:T240S	ENSP00000436004:T240S	T	-	1	0	OR5M10	56101056	0.976000	0.34144	0.026000	0.17262	0.010000	0.07245	2.889000	0.48601	0.740000	0.32651	0.514000	0.50259	ACG		PASS	0.448	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		36	102	36	102	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949826	56949826	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:56949826C>A	ENST00000497933.1	+	1	606	c.459C>A	c.(457-459)ctC>ctA	p.L153L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	123					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L153L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCCTCTTCCTCCATGCCAAGC	0.577																																						uc001njl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)CTC>CTA		leucine rich repeat containing 55							34.0	34.0	34.0					11																	56949826		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949826C>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.459C>A	11.37:g.56949826C>A							p.L153L	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	606	+			123			LRR 2.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.459C>A	CCDS31539.1																																																																																				PASS	0.577	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		4	20	4	20	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982933	57982933	+	Silent	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:57982933G>C	ENST00000309433.6	+	1	717	c.717G>C	c.(715-717)ctG>ctC	p.L239L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L239L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GAGCTGTCCTGAGAGTATCTT	0.438																																						uc010rkc.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(715-717)CTG>CTC		olfactory receptor, family 1, subfamily S,							146.0	118.0	127.0					11																	57982933		2201	4295	6496	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982933G>C	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.717G>C	11.37:g.57982933G>C							p.L239L	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	717	+		Breast(21;0.0589)	239			Cytoplasmic (Potential).		Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.717G>C	CCDS31546.1																																																																																				PASS	0.438	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		10	49	10	49	---	---	---	---
OR5B17	219965	broad.mit.edu	37	11	58126157	58126157	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:58126157T>C	ENST00000357377.3	-	1	385	c.386A>G	c.(385-387)cAt>cGt	p.H129R		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H129R(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTGGTATAATGTAGGGGGTT	0.448																																						uc010rke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(385-387)CAT>CGT		olfactory receptor, family 5, subfamily B,							125.0	114.0	118.0					11																	58126157		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126157T>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.386A>G	11.37:g.58126157T>C	ENSP00000349945:p.His129Arg						p.H129R	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	386	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	129			Cytoplasmic (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.386A>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	t	3.885	-0.025260	0.07589	.	.	ENSG00000197786	ENST00000357377	T	0.01152	5.26	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001810	T	0.01222	0.0040	L	0.28694	0.88	0.09310	N	0.999998	B	0.19200	0.034	B	0.23852	0.049	T	0.48127	-0.9062	10	0.24483	T	0.36	-8.4352	11.1791	0.48616	0.0:0.0:0.0:1.0	.	129	Q8NGF7	OR5BH_HUMAN	R	129	ENSP00000349945:H129R	ENSP00000349945:H129R	H	-	2	0	OR5B17	57882733	0.000000	0.05858	0.188000	0.23233	0.028000	0.11728	0.310000	0.19356	1.505000	0.48720	0.378000	0.23410	CAT		PASS	0.448	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		17	50	17	50	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61026151	61026151	+	Missense_Mutation	SNP	A	A	G	rs375784638		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:61026151A>G	ENST00000335613.5	-	20	3250	c.2864T>C	c.(2863-2865)aTg>aCg	p.M955T	VWCE_ENST00000535710.1_Missense_Mutation_p.M420T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	955						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.M955T(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACCTCCTTACATGGTGGACTC	0.647																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2863-2865)ATG>ACG		von Willebrand factor C and EGF domains		A	THR/MET	0,4402		0,0,2201	29.0	34.0	32.0		2864	-2.9	0.0	11		32	1,8595		0,1,4297	no	missense	VWCE	NM_152718.2	81	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign	955/956	61026151	1,12997	2201	4298	6499	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026151A>G	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2864T>C	11.37:g.61026151A>G	ENSP00000334186:p.Met955Thr					VWCE_uc001nrb.2_RNA	p.M955T	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3143	-			955					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2864T>C	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	A	8.833	0.940484	0.18281	0.0	1.16E-4	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.68479	-0.33;3.52	4.57	-2.93	0.05598	.	2.751230	0.01399	N	0.013520	T	0.42539	0.1207	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	10	0.62326	D	0.03	.	1.6494	0.02768	0.5071:0.1674:0.0894:0.2361	.	955	Q96DN2	VWCE_HUMAN	T	955;420	ENSP00000334186:M955T;ENSP00000442570:M420T	ENSP00000334186:M955T	M	-	2	0	VWCE	60782727	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.052000	0.14163	-0.333000	0.08476	-1.288000	0.01363	ATG		PASS	0.647	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		7	27	7	27	---	---	---	---
ROM1	6094	broad.mit.edu	37	11	62382190	62382190	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:62382190C>A	ENST00000278833.3	+	3	1476	c.935C>A	c.(934-936)cCc>cAc	p.P312H	EML3_ENST00000394773.2_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000278845.4_5'Flank|ROM1_ENST00000534093.1_Missense_Mutation_p.P103T	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	312					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)		p.P312H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TATCTCTTTCCCAGTGGGCTG	0.607																																						uc001ntv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(934-936)CCC>CAC		retinal outer segment membrane protein 1							76.0	78.0	78.0					11																	62382190		2202	4299	6501	SO:0001583	missense	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62382190C>A	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.935C>A	11.37:g.62382190C>A	ENSP00000278833:p.Pro312His					EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	p.P312H	NM_000327	NP_000318	Q03395	ROM1_HUMAN			3	1476	+			312			Cytoplasmic (Potential).		B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	c.935C>A	CCDS8024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.82|14.82	2.650146|2.650146	0.47362|0.47362	.|.	.|.	ENSG00000149489|ENSG00000149489	ENST00000278833|ENST00000534093	T|.	0.03094|.	4.05|.	5.51|5.51	4.6|4.6	0.57074|0.57074	.|.	0.303789|0.303789	0.30969|0.30969	N|N	0.008503|0.008503	T|T	0.28001|0.28001	0.0690|0.0690	N|N	0.24115|0.24115	0.695|0.695	0.18873|0.18873	N|N	0.999988|0.999988	P|.	0.43169|.	0.8|.	B|.	0.43916|.	0.436|.	T|T	0.18999|0.18999	-1.0319|-1.0319	10|7	0.72032|0.87932	D|D	0.01|0	-26.3117|-26.3117	7.2335|7.2335	0.26057|0.26057	0.1679:0.7459:0.0:0.0862|0.1679:0.7459:0.0:0.0862	.|.	312|.	Q03395|.	ROM1_HUMAN|.	H|T	312|103	ENSP00000278833:P312H|.	ENSP00000278833:P312H|ENSP00000432151:P103T	P|P	+|+	2|1	0|0	ROM1|ROM1	62138766|62138766	0.992000|0.992000	0.36948|0.36948	0.044000|0.044000	0.18714|0.18714	0.536000|0.536000	0.34869|0.34869	2.289000|2.289000	0.43523|0.43523	1.330000|1.330000	0.45394|0.45394	-0.251000|-0.251000	0.11542|0.11542	CCC|CCA		PASS	0.607	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		5	60	5	60	---	---	---	---
METTL12	751071	broad.mit.edu	37	11	62433368	62433368	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:62433368G>T	ENST00000532971.1	+	2	274	c.17G>T	c.(16-18)cGa>cTa	p.R6L	C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000524958.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|SNORA57_ENST00000383870.1_RNA|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	6						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.R6L(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCGCTGCGTCGAATGCTCCAC	0.642																																						uc001nug.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CGA>CTA		methyltransferase like 12 precursor							52.0	51.0	51.0					11																	62433368		1984	4163	6147	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62433368G>T	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.17G>T	11.37:g.62433368G>T	ENSP00000431287:p.Arg6Leu					C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_5'UTR|METTL12_uc010rmc.1_RNA	p.R6L	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			2	276	+			6					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.17G>T	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866149	0.71949	.	.	ENSG00000214756	ENST00000532971	T	0.50548	0.74	4.36	-3.4	0.04853	.	.	.	.	.	T	0.29749	0.0743	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	9	0.87932	D	0	-5.9175	1.2869	0.02052	0.1695:0.3352:0.2389:0.2563	.	6	A8MUP2	MTL12_HUMAN	L	6	ENSP00000431287:R6L	ENSP00000431287:R6L	R	+	2	0	METTL12	62189944	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.598000	0.24074	-0.593000	0.05844	-0.293000	0.09583	CGA		PASS	0.642	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		6	30	6	30	---	---	---	---
NUDT22	84304	broad.mit.edu	37	11	63997406	63997406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:63997406C>T	ENST00000279206.3	+	6	1012	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	RP11-783K16.14_ENST00000539963.1_RNA|NUDT22_ENST00000441250.2_Nonsense_Mutation_p.Q253*|DNAJC4_ENST00000321685.3_5'Flank|DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	286							hydrolase activity (GO:0016787)	p.Q286*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CAACCGGGTTCAGGGAAGTCC	0.567																																						uc001nyp.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(856-858)CAG>TAG		nudix (nucleoside diphosphate linked moiety							57.0	56.0	56.0					11																	63997406		2201	4297	6498	SO:0001587	stop_gained	84304						hydrolase activity	g.chr11:63997406C>T	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.856C>T	11.37:g.63997406C>T	ENSP00000279206:p.Gln286*					NUDT22_uc009ype.2_Nonsense_Mutation_p.Q286*|NUDT22_uc001nyq.3_Nonsense_Mutation_p.Q253*|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.Q286*	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			6	1036	+			286					C9JY06|Q71RD5	Nonsense_Mutation	SNP	ENST00000279206.3	37	c.856C>T	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231778	0.39399	.	.	ENSG00000149761	ENST00000279206;ENST00000441250	.	.	.	4.84	2.94	0.34122	.	0.545059	0.20313	N	0.094795	.	.	.	.	.	.	0.23192	N	0.998145	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3102	9.6243	0.39741	0.0:0.8253:0.0:0.1747	.	.	.	.	X	286;253	.	ENSP00000279206:Q286X	Q	+	1	0	NUDT22	63753982	0.016000	0.18221	0.006000	0.13384	0.602000	0.36980	0.859000	0.27858	0.744000	0.32741	0.561000	0.74099	CAG		PASS	0.567	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		5	30	5	30	---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65357998	65357998	+	Missense_Mutation	SNP	G	G	C	rs375496044		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:65357998G>C	ENST00000309295.4	+	16	4483	c.4218G>C	c.(4216-4218)caG>caC	p.Q1406H	EHBP1L1_ENST00000533364.1_5'Flank	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1406						membrane (GO:0016020)		p.Q1406H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGCTGATCCAGGAGTGGTTCA	0.647																																						uc001oeo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4216-4218)CAG>CAC		tangerin		G	HIS/GLN	1,4239		0,1,2119	70.0	78.0	75.0		4218	3.4	1.0	11		75	0,8466		0,0,4233	no	missense	EHBP1L1	NM_001099409.1	24	0,1,6352	CC,CG,GG		0.0,0.0236,0.0079	probably-damaging	1406/1524	65357998	1,12705	2120	4233	6353	SO:0001583	missense	254102							g.chr11:65357998G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.4218G>C	11.37:g.65357998G>C	ENSP00000312671:p.Gln1406His						p.Q1406H	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN			16	4483	+			1406			Potential.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.4218G>C	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794119	0.50102	2.36E-4	0.0	ENSG00000173442	ENST00000309295	T	0.46063	0.88	4.3	3.39	0.38822	Domain of unknown function DUF3585 (1);	0.000000	0.64402	D	0.000006	T	0.57902	0.2085	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58891	-0.7556	10	0.62326	D	0.03	.	9.9658	0.41723	0.1001:0.0:0.8999:0.0	.	1406	Q8N3D4	EH1L1_HUMAN	H	1406	ENSP00000312671:Q1406H	ENSP00000312671:Q1406H	Q	+	3	2	EHBP1L1	65114574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.649000	0.67936	1.043000	0.40175	0.514000	0.50259	CAG		PASS	0.647	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		12	27	12	27	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70200458	70200458	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:70200458G>A	ENST00000253925.7	+	17	2430	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E739K|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	739					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.E739K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATAAAGTGTGAAACCTCCCC	0.532																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2215-2217)GAA>AAA		PTPRF interacting protein alpha 1 isoform b							86.0	77.0	80.0					11																	70200458		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70200458G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2215G>A	11.37:g.70200458G>A	ENSP00000253925:p.Glu739Lys					PPFIA1_uc001opn.1_Missense_Mutation_p.E739K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.E739K	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		17	2413	+			739					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2215G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554414	0.96501	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.26810	1.71;1.71	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.68317	2.08	0.80722	D	1	P;P	0.50819	0.813;0.939	P;P	0.54544	0.573;0.755	T	0.44406	-0.9330	10	0.66056	D	0.02	.	18.1276	0.89591	0.0:0.0:1.0:0.0	.	739;739	Q13136;Q13136-2	LIPA1_HUMAN;.	K	739;739;236	ENSP00000253925:E739K;ENSP00000374198:E739K	ENSP00000253925:E739K	E	+	1	0	PPFIA1	69878106	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.384000	0.97219	2.526000	0.85167	0.561000	0.74099	GAA		PASS	0.532	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		22	45	22	45	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70507712	70507712	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:70507712C>A	ENST00000423696.2	-	6	824	c.788G>T	c.(787-789)cGa>cTa	p.R263L	SHANK2_ENST00000409161.1_Missense_Mutation_p.R53L|SHANK2_ENST00000449116.2_Missense_Mutation_p.R54L|SHANK2_ENST00000409530.1_Missense_Mutation_p.R53L|SHANK2_ENST00000449833.2_Missense_Mutation_p.R54L|SHANK2_ENST00000357171.3_Missense_Mutation_p.R54L|SHANK2_ENST00000338508.4_Missense_Mutation_p.R643L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	263	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R54L(2)|p.R643L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTGGCCCCTCGAAGCACGAA	0.507																																						uc001oqc.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1924-1926)CGA>CTA		SH3 and multiple ankyrin repeat domains 2							161.0	139.0	147.0					11																	70507712		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507712C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.788G>T	11.37:g.70507712C>A	ENSP00000394536:p.Arg263Leu					SHANK2_uc010rqn.1_Missense_Mutation_p.R54L|SHANK2_uc001opz.2_Missense_Mutation_p.R54L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.R54L	p.R642L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		13	2003	-			263			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.1925G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	28.6|28.6	4.934037|4.934037	0.92458|0.92458	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000426687|ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T;T;T;T	.|0.27720	.|1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	4.76|4.76	4.76|4.76	0.60689|0.60689	.|PDZ/DHR/GLGF (4);	.|0.234967	.|0.33235	.|N	.|0.005139	.|T	.|0.59636	.|0.2208	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.986;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.964;1.0;0.995	.|T	.|0.66988	.|-0.5784	.|10	.|0.87932	.|D	.|0	.|.	17.7826|17.7826	0.88528|0.88528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|54;263;642;54	.|B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.|.;SHAN2_HUMAN;.;.	X|L	52|54;53;643;263;277;273;53;54;54	.|ENSP00000399423:R54L;ENSP00000386491:R53L;ENSP00000345193:R643L;ENSP00000394536:R263L;ENSP00000294018:R273L;ENSP00000387324:R53L;ENSP00000394939:R54L;ENSP00000349694:R54L	.|ENSP00000294018:R273L	E|R	-|-	1|2	0|0	SHANK2|SHANK2	70185360|70185360	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	7.049000|7.049000	0.76613|0.76613	2.189000|2.189000	0.69895|0.69895	0.491000|0.491000	0.48974|0.48974	GAG|CGA		PASS	0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	113	5	113	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85701351	85701351	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:85701351G>A	ENST00000393346.3	-	13	1498	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	PICALM_ENST00000526033.1_Silent_p.S443S|PICALM_ENST00000532317.1_Intron|PICALM_ENST00000356360.5_Silent_p.S450S|PICALM_ENST00000528398.1_Intron			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	450					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.S450S(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CTGAAGAAATGGAAAGGTGAA	0.363			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1348-1350)TCC>TCT		phosphatidylinositol-binding clathrin assembly							135.0	128.0	130.0					11																	85701351		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85701351G>A	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1350C>T	11.37:g.85701351G>A						PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Silent_p.S443S|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Silent_p.S82S	p.S450S	NM_007166	NP_009097	Q13492	PICAL_HUMAN			13	1636	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	450					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1350C>T	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925736	0.18056	.	.	ENSG00000073921	ENST00000526961;ENST00000530542	.	.	.	6.07	3.2	0.36748	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52253	-0.8600	4	.	.	.	-1.6977	9.4867	0.38933	0.3304:0.0:0.6696:0.0	.	.	.	.	Y	59;153	.	.	H	-	1	0	PICALM	85378999	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.281000	0.58965	0.444000	0.26612	0.655000	0.94253	CAT		PASS	0.363	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		23	59	23	59	---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110036441	110036441	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:110036441G>T	ENST00000278590.3	+	6	2682	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.E878D|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.E846D	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	877							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E877D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTTAGTGGAGAAATCCCAGC	0.453																																						uc009yxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2629-2631)GAG>GAT		zinc finger CCCH-type containing 12C							28.0	27.0	28.0					11																	110036441		1925	4128	6053	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036441G>T		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2631G>T	11.37:g.110036441G>T	ENSP00000278590:p.Glu877Asp					ZC3H12C_uc010rwc.1_Missense_Mutation_p.E878D|ZC3H12C_uc010rwd.1_Missense_Mutation_p.E878D|ZC3H12C_uc001pkr.3_Missense_Mutation_p.E846D	p.E877D	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	2682	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	877					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2631G>T	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892527	0.72524	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.34275	1.37;1.37;1.39	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.54323	1.7	0.40439	D	0.980023	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.991	T	0.54417	-0.8297	10	0.59425	D	0.04	-31.7207	14.6833	0.69033	0.0687:0.0:0.9313:0.0	.	878;877;877	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	D	877;878;846	ENSP00000278590:E877D;ENSP00000431821:E878D;ENSP00000413094:E846D	ENSP00000278590:E877D	E	+	3	2	ZC3H12C	109541651	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.048000	0.41278	2.854000	0.98071	0.655000	0.94253	GAG		PASS	0.453	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		5	8	5	8	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113704153	113704153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:113704153C>A	ENST00000003302.4	-	7	816	c.748G>T	c.(748-750)Gag>Tag	p.E250*	USP28_ENST00000537706.1_Nonsense_Mutation_p.E250*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.E125*|USP28_ENST00000260188.5_Nonsense_Mutation_p.E250*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	250	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E250*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCTGTTCCTCAGATGATCGG	0.423																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(748-750)GAG>TAG		ubiquitin specific protease 28							132.0	131.0	131.0					11																	113704153		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704153C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.748G>T	11.37:g.113704153C>A	ENSP00000003302:p.Glu250*					USP28_uc010rwy.1_Nonsense_Mutation_p.E125*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.E250*|USP28_uc010rwz.1_Nonsense_Mutation_p.E250*	p.E250*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	781	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	250					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.748G>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025977	0.98616	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	.	.	.	4.56	4.56	0.56223	.	0.099263	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-19.2419	17.5974	0.88016	0.0:1.0:0.0:0.0	.	.	.	.	X	250;250;125;14;250;149	.	ENSP00000003302:E250X	E	-	1	0	USP28	113209363	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.290000	0.78711	2.405000	0.81733	0.553000	0.69018	GAG		PASS	0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			6	107	6	107	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117242073	117242073	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:117242073C>A	ENST00000278935.3	+	9	1190	c.1043C>A	c.(1042-1044)cCa>cAa	p.P348Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	348					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P348Q(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAAGCACCAGAGGACACA	0.537																																						uc001prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1042-1044)CCA>CAA		centrosomal protein 164kDa							104.0	108.0	106.0					11																	117242073		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117242073C>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1043C>A	11.37:g.117242073C>A	ENSP00000278935:p.Pro348Gln					CEP164_uc001prb.2_Missense_Mutation_p.P348Q|CEP164_uc010rxk.1_Missense_Mutation_p.P322Q|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.P348Q	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1190	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	348					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1043C>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299296	0.23650	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.57273	0.41	4.86	-0.85	0.10720	.	0.931884	0.08915	N	0.875220	T	0.34395	0.0896	L	0.36672	1.1	0.09310	N	1	B;B;B	0.19583	0.004;0.019;0.037	B;B;B	0.17433	0.004;0.012;0.018	T	0.22382	-1.0218	10	0.19147	T	0.46	0.8569	2.7802	0.05359	0.3339:0.3447:0.0:0.3214	.	322;348;348	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	Q	348;322;275	ENSP00000278935:P348Q	ENSP00000278935:P348Q	P	+	2	0	CEP164	116747283	0.000000	0.05858	0.000000	0.03702	0.922000	0.55478	-0.544000	0.06077	-0.013000	0.14199	0.585000	0.79938	CCA		PASS	0.537	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	109	5	109	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124617490	124617490	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:124617490T>A	ENST00000326621.5	-	7	1025	c.925A>T	c.(925-927)Aga>Tga	p.R309*	RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	309						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R309*(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)		GACGAGGGTCTTTCCAGGAAC	0.557																																						uc001qas.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(925-927)AGA>TGA		V-set and immunoglobulin domain containing 2							101.0	89.0	93.0					11																	124617490		2201	4299	6500	SO:0001587	stop_gained	23584					integral to plasma membrane|membrane fraction		g.chr11:124617490T>A	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.925A>T	11.37:g.124617490T>A	ENSP00000318684:p.Arg309*						p.R309*	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	7	1001	-	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)	309			Cytoplasmic (Potential).		O95791|Q9NX42	Nonsense_Mutation	SNP	ENST00000326621.5	37	c.925A>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.718998	0.68844	.	.	ENSG00000019102	ENST00000326621	.	.	.	5.35	5.35	0.76521	.	0.366061	0.27096	N	0.020948	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6517	0.51292	0.0:0.0:0.0:1.0	.	.	.	.	X	309	.	ENSP00000318684:R309X	R	-	1	2	VSIG2	124122700	0.991000	0.36638	0.932000	0.37286	0.090000	0.18270	3.649000	0.54417	2.242000	0.73789	0.528000	0.53228	AGA		PASS	0.557	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		13	42	13	42	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134014177	134014177	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr11:134014177C>T	ENST00000299106.4	+	4	457	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Silent_p.L145L|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	100	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)	p.L145L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GAAGACATCCCTGAAGATCTG	0.458																																						uc001qhb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(433-435)CTG>TTG		junctional adhesion molecule 3 precursor							148.0	130.0	136.0					11																	134014177		2201	4297	6498	SO:0001819	synonymous_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014177C>T	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.298C>T	11.37:g.134014177C>T						JAM3_uc009zcz.1_Intron	p.L145L	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	457	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	100			Extracellular (Potential).|Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.433C>T	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	C	7.290	0.610860	0.14066	.	.	ENSG00000166086	ENST00000534549	.	.	.	5.36	4.44	0.53790	.	.	.	.	.	T	0.63803	0.2542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62282	-0.6887	4	.	.	.	.	12.4952	0.55923	0.0:0.9222:0.0:0.0778	.	.	.	.	L	44	.	.	P	+	2	0	JAM3	133519387	0.957000	0.32711	0.095000	0.20976	0.750000	0.42670	2.121000	0.41977	1.270000	0.44297	0.561000	0.74099	CCT		PASS	0.458	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		19	50	19	50	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6061676	6061676	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:6061676T>C	ENST00000261405.5	-	49	8250	c.7996A>G	c.(7996-7998)Acg>Gcg	p.T2666A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2666					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T2666A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGGAGCGTCTCATCACGC	0.502																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7996-7998)ACG>GCG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						91.0	79.0	83.0					12																	6061676		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6061676T>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7996A>G	12.37:g.6061676T>C	ENSP00000261405:p.Thr2666Ala					VWF_uc010set.1_Intron	p.T2666A	NM_000552	NP_000543	P04275	VWF_HUMAN			49	8246	-			2666					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7996A>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475652	0.26511	.	.	ENSG00000110799	ENST00000261405	T	0.37584	1.19	5.36	5.36	0.76844	.	0.204844	0.24737	N	0.036016	T	0.45776	0.1359	M	0.85859	2.78	0.80722	D	1	B	0.14438	0.01	B	0.18263	0.021	T	0.49184	-0.8966	10	0.66056	D	0.02	.	13.5735	0.61860	0.0:0.0:0.0:1.0	.	2666	P04275	VWF_HUMAN	A	2666	ENSP00000261405:T2666A	ENSP00000261405:T2666A	T	-	1	0	VWF	5931937	0.990000	0.36364	0.915000	0.36163	0.046000	0.14306	2.819000	0.48049	2.151000	0.67156	0.533000	0.62120	ACG		PASS	0.502	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		14	21	14	21	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7635983	7635983	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:7635983T>C	ENST00000359156.4	-	12	3270	c.3068A>G	c.(3067-3069)gAc>gGc	p.D1023G	CD163_ENST00000541972.1_Missense_Mutation_p.D1011G|CD163_ENST00000396620.3_Missense_Mutation_p.D1056G|CD163_ENST00000432237.2_Missense_Mutation_p.D1023G|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1023	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1023G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTGCAGCGTCTTCCTTGTG	0.512																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(3067-3069)GAC>GGC		CD163 antigen isoform a							97.0	86.0	90.0					12																	7635983		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635983T>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3068A>G	12.37:g.7635983T>C	ENSP00000352071:p.Asp1023Gly					CD163_uc001qta.3_Missense_Mutation_p.D1023G|CD163_uc009zfw.2_Missense_Mutation_p.D1056G	p.D1023G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3196	-			1023			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3068A>G	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.189507|4.189507	0.78789|0.78789	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237|ENST00000537626	T;T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58;0.58|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);|.	0.270585|.	0.31673|.	N|.	0.007246|.	D|D	0.88100|0.88100	0.6346|0.6346	H|H	0.98005|0.98005	4.125|4.125	0.48901|0.48901	D|D	0.999721|0.999721	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.993;0.998;0.993|.	D|D	0.92019|0.92019	0.5624|0.5624	10|5	0.87932|.	D|.	0|.	.|.	13.4843|13.4843	0.61355|0.61355	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1056;1023;1023|.	C9JHR8;Q86VB7-3;Q86VB7|.	.;.;C163A_HUMAN|.	G|A	1023;63;1011;1056;1023|36	ENSP00000352071:D1023G;ENSP00000445438:D63G;ENSP00000444071:D1011G;ENSP00000379863:D1056G;ENSP00000403885:D1023G|.	ENSP00000352071:D1023G|.	D|T	-|-	2|1	0|0	CD163|CD163	7527250|7527250	1.000000|1.000000	0.71417|0.71417	0.908000|0.908000	0.35775|0.35775	0.702000|0.702000	0.40608|0.40608	5.145000|5.145000	0.64839|0.64839	2.140000|2.140000	0.66376|0.66376	0.454000|0.454000	0.30748|0.30748	GAC|ACG		PASS	0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		8	24	8	24	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14947471	14947471	+	Splice_Site	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:14947471C>A	ENST00000261167.2	-	7	954	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	241					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.A241S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTCTCACCAAGTTCAGGA	0.413																																						uc001rci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(721-723)GCC>TCC		WW domain binding protein 11							187.0	198.0	195.0					12																	14947471		2203	4300	6503	SO:0001630	splice_region_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947471C>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.721+1G>T	12.37:g.14947471C>A							p.A241S	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			7	882	-			241					Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.721G>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172955	0.57584	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.36	4.36	0.52297	.	0.507528	0.20703	N	0.087239	T	0.56906	0.2017	L	0.56769	1.78	0.45567	D	0.998514	B	0.23854	0.092	B	0.12837	0.008	T	0.54337	-0.8309	8	.	.	.	-21.9883	14.7645	0.69629	0.0:1.0:0.0:0.0	.	241	Q9Y2W2	WBP11_HUMAN	S	241	.	.	A	-	1	0	WBP11	14838738	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.566000	0.67372	2.437000	0.82529	0.655000	0.94253	GCC		PASS	0.413	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	Missense_Mutation	8	280	8	280	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15704492	15704492	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:15704492G>A	ENST00000281171.4	+	15	2775	c.2445G>A	c.(2443-2445)gaG>gaA	p.E815E	PTPRO_ENST00000348962.2_Silent_p.E815E|PTPRO_ENST00000442921.2_Silent_p.E4E|PTPRO_ENST00000542557.1_Silent_p.E4E|PTPRO_ENST00000544244.1_Silent_p.E4E|PTPRO_ENST00000445537.2_Silent_p.E4E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	815	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.E815E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TAGTTACAGAGATGAATCCCA	0.398																																						uc001rcv.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2443-2445)GAG>GAA		receptor-type protein tyrosine phosphatase O							263.0	233.0	243.0					12																	15704492		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15704492G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2445G>A	12.37:g.15704492G>A						PTPRO_uc001rcw.1_Silent_p.E815E|PTPRO_uc001rcx.1_Silent_p.E4E|PTPRO_uc001rcy.1_Silent_p.E4E|PTPRO_uc001rcz.1_Silent_p.E4E|PTPRO_uc001rda.1_Silent_p.E4E	p.E815E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			15	2619	+		Hepatocellular(102;0.244)	815			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.2445G>A	CCDS8675.1																																																																																				PASS	0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			35	85	35	85	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16052959	16052959	+	Silent	SNP	G	G	C	rs140559082	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:16052959G>C	ENST00000419869.2	+	8	1210	c.897G>C	c.(895-897)acG>acC	p.T299T	STRAP_ENST00000538352.1_Silent_p.T205T|STRAP_ENST00000025399.6_Silent_p.T312T	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	299					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)	p.T299T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TAGGAAAAACGTATGGCCTTT	0.333																																						uc001rdc.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(895-897)ACG>ACC		serine/threonine kinase receptor associated							103.0	100.0	101.0					12																	16052959		2203	4300	6503	SO:0001819	synonymous_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16052959G>C	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.897G>C	12.37:g.16052959G>C						STRAP_uc010shw.1_Silent_p.T312T|STRAP_uc001rdd.3_Silent_p.T205T	p.T299T	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			8	1251	+		Hepatocellular(102;0.121)	299			WD 7.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	ENST00000419869.2	37	c.897G>C	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	7.385	0.629586	0.14257	.	.	ENSG00000023734	ENST00000538718	.	.	.	4.76	-3.57	0.04612	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	4	.	.	.	-13.587	2.8073	0.05431	0.3916:0.2387:0.2812:0.0885	.	.	.	.	L	66	.	.	V	+	1	0	STRAP	15944226	0.784000	0.28713	0.438000	0.26821	0.971000	0.66376	-0.018000	0.12568	-0.707000	0.05022	-1.142000	0.01873	GTA		PASS	0.333	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		15	41	15	41	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26572033	26572033	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:26572033G>A	ENST00000381340.3	-	50	7475	c.7059C>T	c.(7057-7059)gtC>gtT	p.V2353V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2353					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.V2353V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGCAAACCAGGACATACGCCA	0.463																																						uc001rhg.2																			1	Substitution - coding silent(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(7057-7059)GTC>GTT		inositol 1,4,5-triphosphate receptor, type 2							87.0	95.0	92.0					12																	26572033		2031	4190	6221	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26572033G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7059C>T	12.37:g.26572033G>A						ITPR2_uc009zjg.1_Silent_p.V504V	p.V2353V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			50	7476	-	Colorectal(261;0.0847)		2353			Helical; (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.7059C>T	CCDS41764.1																																																																																				PASS	0.463	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		22	49	22	49	---	---	---	---
C12orf71	728858	broad.mit.edu	37	12	27235364	27235364	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:27235364T>C	ENST00000429849.2	-	1	83	c.53A>G	c.(52-54)aAt>aGt	p.N18S		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	18								p.N18S(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CAGGTTGGAATTGGATTTGGA	0.493																																						uc001rhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(52-54)AAT>AGT		hypothetical protein LOC728858							38.0	36.0	36.0					12																	27235364		1876	4115	5991	SO:0001583	missense	728858							g.chr12:27235364T>C		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.53A>G	12.37:g.27235364T>C	ENSP00000413728:p.Asn18Ser						p.N18S	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	92	-			18						Missense_Mutation	SNP	ENST00000429849.2	37	c.53A>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	0.934	-0.711802	0.03206	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.40756	1.02	1.5	-3.0	0.05480	.	0.685485	0.11125	U	0.596978	T	0.19046	0.0457	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12372	-1.0550	10	0.31617	T	0.26	-0.7445	3.0099	0.06040	0.0:0.3123:0.2364:0.4514	.	18	A8MTZ7	CL071_HUMAN	S	18	ENSP00000413728:N18S	ENSP00000381796:N18S	N	-	2	0	C12orf71	27126631	0.002000	0.14202	0.001000	0.08648	0.106000	0.19336	-1.690000	0.01922	-1.042000	0.03262	-0.385000	0.06624	AAT		PASS	0.493	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		20	21	20	21	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40671774	40671774	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:40671774T>C	ENST00000298910.7	+	17	2084	c.2026T>C	c.(2026-2028)Ttc>Ctc	p.F676L	LRRK2_ENST00000343742.2_Missense_Mutation_p.F676L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	676					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.F676L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTAGTAATATTCCATCAAAT	0.328																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2026-2028)TTC>CTC		leucine-rich repeat kinase 2							85.0	80.0	82.0					12																	40671774		2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40671774T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2026T>C	12.37:g.40671774T>C	ENSP00000298910:p.Phe676Leu					LRRK2_uc001rmh.1_Missense_Mutation_p.F298L	p.F676L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			17	2147	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	676					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2026T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434723	0.62955	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.71579	-0.58;-0.58;-0.58	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	M	0.61703	1.905	0.50632	D	0.999881	D;D	0.89917	0.997;1.0	D;D	0.85130	0.985;0.997	D	0.84265	0.0485	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	676;676	E9PC85;Q5S007	.;LRRK2_HUMAN	L	424;676;676	ENSP00000398726:F424L;ENSP00000341930:F676L;ENSP00000298910:F676L	ENSP00000298910:F676L	F	+	1	0	LRRK2	38958041	1.000000	0.71417	0.998000	0.56505	0.090000	0.18270	5.758000	0.68776	2.333000	0.79357	0.482000	0.46254	TTC		PASS	0.328	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	41	6	41	---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47163091	47163091	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:47163091T>C	ENST00000447411.1	-	14	1626	c.1420A>G	c.(1420-1422)Ata>Gta	p.I474V	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I474V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	474					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.I474V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATGTATTTTATAGTTGGCACA	0.423																																						uc001rpi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1420-1422)ATA>GTA		solute carrier family 38, member 4							115.0	110.0	112.0					12																	47163091		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163091T>C	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1420A>G	12.37:g.47163091T>C	ENSP00000389843:p.Ile474Val					SLC38A4_uc001rpj.2_Missense_Mutation_p.I474V	p.I474V	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			15	1819	-	Lung SC(27;0.192)|Renal(347;0.236)		474			Helical; (Potential).		A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1420A>G	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507102	0.85282	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02421	4.3;4.3	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	M	0.85859	2.78	0.80722	D	1	D	0.67145	0.996	D	0.91635	0.999	T	0.00867	-1.1534	10	0.39692	T	0.17	-24.5618	15.8834	0.79222	0.0:0.0:0.0:1.0	.	474	Q969I6	S38A4_HUMAN	V	474	ENSP00000389843:I474V;ENSP00000266579:I474V	ENSP00000266579:I474V	I	-	1	0	SLC38A4	45449358	1.000000	0.71417	0.983000	0.44433	0.941000	0.58515	8.040000	0.89188	2.158000	0.67659	0.379000	0.24179	ATA		PASS	0.423	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			31	69	31	69	---	---	---	---
FIGNL2	401720	broad.mit.edu	37	12	52216039	52216039	+	lincRNA	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:52216039G>A	ENST00000562343.2	+	0	4188				RP11-923I11.4_ENST00000567167.1_lincRNA																							AGGCAGTGAGGGCTGAGATGT	0.642																																						uc001rzc.2																			0					0						c.(157-159)GCC>GCT		fidgetin-like 2							68.0	72.0	71.0					12																	52216039		2167	4258	6425			401720						ATP binding|nucleoside-triphosphatase activity	g.chr12:52216039G>A																													12.37:g.52216039G>A							p.A53A	NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.135)	1	170	-			53						Silent	SNP	ENST00000562343.2	37	c.159C>T																																																																																					PASS	0.642	RP11-923I11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430848.2			3	9	3	9	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56575865	56575865	+	Splice_Site	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:56575865T>A	ENST00000267064.4	-	8	719		c.e8-2		SMARCC2_ENST00000550164.1_Splice_Site|SMARCC2_ENST00000347471.4_Splice_Site|SMARCC2_ENST00000550859.1_Splice_Site|SMARCC2_ENST00000394023.3_Splice_Site|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTGTCGTAACTGCCATGGGAA	0.438																																						uc001skb.2																			2	Unknown(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.e8-1		SWI/SNF-related matrix-associated							68.0	63.0	65.0					12																	56575865		2203	4300	6503	SO:0001630	splice_region_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575865T>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.633-2A>T	12.37:g.56575865T>A						SMARCC2_uc001skd.2_Splice_Site_p.S211_splice|SMARCC2_uc001ska.2_Splice_Site_p.S211_splice|SMARCC2_uc001skc.2_Splice_Site_p.S211_splice|SMARCC2_uc010sqf.1_Splice_Site_p.S100_splice	p.S211_splice	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		8	739	-								F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Splice_Site	SNP	ENST00000267064.4	37	c.633_splice	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065732	0.76187	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2688	0.66138	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCC2	54862132	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.587000	0.82613	2.276000	0.75962	0.454000	0.30748	.		PASS	0.438	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		Intron	12	38	12	38	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58089784	58089784	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:58089784A>G	ENST00000315970.7	+	4	484	c.443A>G	c.(442-444)tAc>tGc	p.Y148C	OS9_ENST00000435406.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.Y148C|OS9_ENST00000551035.1_Missense_Mutation_p.Y148C|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.Y148C|OS9_ENST00000439210.2_Missense_Mutation_p.Y89C|OS9_ENST00000389142.5_Missense_Mutation_p.Y148C|OS9_ENST00000257966.8_Missense_Mutation_p.Y148C|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	148	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.Y148C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTCGGCTACTACCAATCAGCC	0.522																																						uc001spj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(442-444)TAC>TGC		osteosarcoma amplified 9, endoplasmic reticulum							90.0	83.0	86.0					12																	58089784		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58089784A>G	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.443A>G	12.37:g.58089784A>G	ENSP00000318165:p.Tyr148Cys					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.Y148C|OS9_uc001spl.2_Missense_Mutation_p.Y148C|OS9_uc001spm.2_Missense_Mutation_p.Y148C|OS9_uc001spn.2_Missense_Mutation_p.Y148C|OS9_uc010sry.1_Missense_Mutation_p.Y148C|OS9_uc010srz.1_Missense_Mutation_p.Y89C	p.Y148C	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		4	502	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		148			PRKCSH.		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.443A>G	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550554	0.86127	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000389142	T;T;T;T;T;T;T	0.27104	1.7;1.69;1.72;1.71;3.77;1.71;1.7	5.28	5.28	0.74379	Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.999;0.999;0.999	T	0.62882	-0.6760	10	0.72032	D	0.01	.	14.1779	0.65555	1.0:0.0:0.0:0.0	.	89;148;148;148;148;148;148	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	C	148;148;89;148;148;148;148	ENSP00000450010:Y148C;ENSP00000318165:Y148C;ENSP00000407360:Y89C;ENSP00000373798:Y148C;ENSP00000447866:Y148C;ENSP00000257966:Y148C;ENSP00000373794:Y148C	ENSP00000257966:Y148C	Y	+	2	0	OS9	56376051	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.113000	0.64640	2.002000	0.58637	0.482000	0.46254	TAC		PASS	0.522	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		15	58	15	58	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174329	58174329	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:58174329A>T	ENST00000300209.8	+	3	706	c.581A>T	c.(580-582)cAc>cTc	p.H194L	TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000548851.1_5'Flank|METTL21B_ENST00000551420.1_Missense_Mutation_p.H13L|TSFM_ENST00000543727.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	194						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)	p.H194L(1)		endometrium(1)|lung(1)	2						TTCTTTCAGCACCTCCTGCCC	0.562																																						uc001sqg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)CAC>CTC		hypothetical protein LOC25895 isoform a							57.0	53.0	54.0					12																	58174329		2203	4300	6503	SO:0001583	missense	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174329A>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.581A>T	12.37:g.58174329A>T	ENSP00000300209:p.His194Leu					FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	p.H194L	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN			3	706	+	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		194					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.581A>T	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	A	8.844	0.942965	0.18281	.	.	ENSG00000123427	ENST00000551420;ENST00000300209	T	0.38887	1.11	5.2	2.88	0.33553	.	0.424839	0.24078	N	0.041753	T	0.09379	0.0231	N	0.00289	-1.7	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.31166	-0.9953	9	.	.	.	.	4.8776	0.13664	0.6659:0.1609:0.1732:0.0	.	194	Q96AZ1	MT21B_HUMAN	L	13;194	ENSP00000300209:H194L	.	H	+	2	0	METTL21B	56460596	0.966000	0.33281	0.999000	0.59377	0.960000	0.62799	2.205000	0.42770	0.827000	0.34685	0.455000	0.32223	CAC		PASS	0.562	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		7	20	7	20	---	---	---	---
AVIL	10677	broad.mit.edu	37	12	58200197	58200197	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:58200197G>T	ENST00000257861.3	-	13	2047	c.1617C>A	c.(1615-1617)tcC>tcA	p.S539S	RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000537081.1_Silent_p.S532S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	539	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.S539S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACATCATTGGAGTTTAGGG	0.542																																						uc001sqj.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1615-1617)TCC>TCA		advillin							157.0	133.0	141.0					12																	58200197		2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58200197G>T	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1617C>A	12.37:g.58200197G>T						AVIL_uc009zqe.1_Silent_p.S532S|AVIL_uc001sqk.1_Silent_p.S117S|AVIL_uc001sql.3_Silent_p.S516S	p.S539S	NM_006576	NP_006567	O75366	AVIL_HUMAN			13	1646	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		539			Gelsolin-like 5.|Core (By similarity).		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.1617C>A	CCDS8959.1																																																																																				PASS	0.542	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		5	63	5	63	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199048	86199048	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:86199048A>G	ENST00000361228.3	-	2	1108	c.740T>C	c.(739-741)cTa>cCa	p.L247P		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	247					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.L247P(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGCAAGTCTAGATTTTGCTC	0.398																																						uc001taf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(739-741)CTA>CCA		Ras association (RalGDS/AF-6) domain family							125.0	122.0	123.0					12																	86199048		1896	4124	6020	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199048A>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.740T>C	12.37:g.86199048A>G	ENSP00000354884:p.Leu247Pro						p.L247P	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1079	-			247			Potential.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.740T>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	A	0.394	-0.922131	0.02396	.	.	ENSG00000198774	ENST00000361228	T	0.48201	0.82	4.84	2.28	0.28536	.	1.665850	0.03463	U	0.212456	T	0.31199	0.0789	N	0.14661	0.345	0.09310	N	0.999994	P	0.37864	0.61	B	0.37888	0.26	T	0.24870	-1.0148	10	0.30854	T	0.27	-5.7433	3.9754	0.09472	0.6475:0.1605:0.0818:0.1102	.	247	O75901	RASF9_HUMAN	P	247	ENSP00000354884:L247P	ENSP00000354884:L247P	L	-	2	0	RASSF9	84723179	0.006000	0.16342	0.010000	0.14722	0.004000	0.04260	1.165000	0.31822	0.803000	0.34113	-0.280000	0.10049	CTA		PASS	0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			31	76	31	76	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97073530	97073530	+	Splice_Site	SNP	G	G	T	rs138249141		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:97073530G>T	ENST00000524981.4	+	40	5739	c.5716G>T	c.(5716-5718)Gat>Tat	p.D1906Y				Q96N23	CL055_HUMAN		0								p.D331Y(1)									ACAGACACAAGGTAAAATGCA	0.433																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(991-993)GAT>TAT		hypothetical protein LOC374467							156.0	150.0	152.0					12																	97073530		2203	4300	6503	SO:0001630	splice_region_variant	374467							g.chr12:97073530G>T																												ENST00000524981.4:c.5716+1G>T	12.37:g.97073530G>T							p.D331Y	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			7	1069	+			331						Missense_Mutation	SNP	ENST00000524981.4	37	c.991G>T		.	.	.	.	.	.	.	.	.	.	G	19.40	3.820350	0.71028	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	0.257041	0.38605	N	0.001627	T	0.79770	0.4503	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.82149	-0.0600	8	0.66056	D	0.02	-25.2706	18.4799	0.90808	0.0:0.0:1.0:0.0	.	331	Q6ZTY8	CL063_HUMAN	Y	1906;331	.	ENSP00000345466:D331Y	D	+	1	0	C12orf63	95597661	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.858000	0.75461	2.437000	0.82529	0.655000	0.94253	GAT		PASS	0.433	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Missense_Mutation	6	111	6	111	---	---	---	---
NEDD1	121441	broad.mit.edu	37	12	97311443	97311443	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:97311443G>T	ENST00000266742.4	+	5	615	c.276G>T	c.(274-276)ttG>ttT	p.L92F	NEDD1_ENST00000457368.2_Missense_Mutation_p.L3F|NEDD1_ENST00000429527.2_Missense_Mutation_p.L92F|NEDD1_ENST00000557644.1_Missense_Mutation_p.L99F|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000411739.2_Missense_Mutation_p.L3F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	92					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.L92F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CTATGTATTTGGTAAGCGGAG	0.289																																						uc001teu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)TTG>TTT		neural precursor cell expressed, developmentally							104.0	125.0	118.0					12																	97311443		2202	4292	6494	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97311443G>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.276G>T	12.37:g.97311443G>T	ENSP00000266742:p.Leu92Phe					NEDD1_uc001tev.3_Missense_Mutation_p.L92F|NEDD1_uc010svc.1_Missense_Mutation_p.L3F|NEDD1_uc001tew.2_Missense_Mutation_p.L99F|NEDD1_uc001tex.2_Missense_Mutation_p.L3F	p.L92F	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			5	615	+			92			WD 3.		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.276G>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262461	0.80358	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000554226;ENST00000557478;ENST00000557092;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T;T;T;T	0.68479	1.04;1.04;-0.33;-0.33;4.37;1.02;1.04;1.04;1.02	6.02	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.136207	0.49916	D	0.000128	T	0.75722	0.3888	M	0.71036	2.16	0.47276	D	0.999375	D;D	0.63046	0.992;0.989	P;P	0.62813	0.907;0.882	T	0.77094	-0.2715	10	0.72032	D	0.01	.	7.539	0.27727	0.0804:0.0:0.6667:0.2529	.	99;92	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	F	92;92;99;92;92;3;3;99;3	ENSP00000266742:L92F;ENSP00000404978:L92F;ENSP00000450881:L99F;ENSP00000451869:L92F;ENSP00000450757:L92F;ENSP00000411307:L3F;ENSP00000451830:L3F;ENSP00000451211:L99F;ENSP00000407964:L3F	ENSP00000266742:L92F	L	+	3	2	NEDD1	95835574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.256000	0.32921	2.857000	0.98124	0.650000	0.86243	TTG		PASS	0.289	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			6	135	6	135	---	---	---	---
NFYB	4801	broad.mit.edu	37	12	104515090	104515090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:104515090C>A	ENST00000240055.3	-	6	666	c.439G>T	c.(439-441)Gga>Tga	p.G147*	NFYB_ENST00000551727.1_Nonsense_Mutation_p.G147*	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	147	C domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G147*(1)		large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCTTTTCTCCTTTCATAGCC	0.368																																						uc001tkl.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(439-441)GGA>TGA		nuclear transcription factor Y, beta							228.0	228.0	228.0					12																	104515090		2203	4300	6503	SO:0001587	stop_gained	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104515090C>A		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.439G>T	12.37:g.104515090C>A	ENSP00000240055:p.Gly147*					NFYB_uc001tkk.1_Nonsense_Mutation_p.G145*	p.G147*	NM_006166	NP_006157	P25208	NFYB_HUMAN			6	640	-			147			C domain.		A8K7B9|Q96IY8	Nonsense_Mutation	SNP	ENST00000240055.3	37	c.439G>T	CCDS9098.1	.	.	.	.	.	.	.	.	.	.	.	42	9.680101	0.99237	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9392	19.3736	0.94500	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	ENSP00000240055:G147X	G	-	1	0	NFYB	103039220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.618000	0.74214	2.582000	0.87167	0.585000	0.79938	GGA		PASS	0.368	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			7	233	7	233	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114395692	114395692	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:114395692C>A	ENST00000545145.2	-	6	813	c.735G>T	c.(733-735)gaG>gaT	p.E245D	RBM19_ENST00000261741.5_Missense_Mutation_p.E245D|RBM19_ENST00000392561.3_Missense_Mutation_p.E245D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	245					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E245D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CGGAGGAATCCTCTTCCTCGG	0.577																																						uc009zwi.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(733-735)GAG>GAT		RNA binding motif protein 19							174.0	149.0	157.0					12																	114395692		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114395692C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.735G>T	12.37:g.114395692C>A	ENSP00000442053:p.Glu245Asp					RBM19_uc001tvn.3_Missense_Mutation_p.E245D|RBM19_uc001tvm.2_Missense_Mutation_p.E245D	p.E245D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			6	879	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		245					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.735G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	9.991	1.230835	0.22542	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05717	3.4;3.4;3.4	4.67	2.86	0.33363	Nucleotide-binding, alpha-beta plait (1);	0.765033	0.12587	N	0.455880	T	0.05686	0.0149	L	0.36672	1.1	0.27663	N	0.947016	B	0.10296	0.003	B	0.06405	0.002	T	0.38845	-0.9642	10	0.22109	T	0.4	-19.8686	8.2275	0.31577	0.0:0.8138:0.0:0.1862	.	245	Q9Y4C8	RBM19_HUMAN	D	245	ENSP00000442053:E245D;ENSP00000376344:E245D;ENSP00000261741:E245D	ENSP00000261741:E245D	E	-	3	2	RBM19	112880075	0.701000	0.27806	0.434000	0.26772	0.109000	0.19521	0.136000	0.15974	0.602000	0.29896	-0.140000	0.14226	GAG		PASS	0.577	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		30	86	30	86	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121880003	121880003	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:121880003C>G	ENST00000377071.4	-	19	3313	c.3241G>C	c.(3241-3243)Gac>Cac	p.D1081H	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.D1012H|KDM2B_ENST00000542973.1_Missense_Mutation_p.D449H	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1081	F-box.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.D1081H(1)|p.D720H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACACACAGGTCTTGGTGGCTG	0.652																																						uc001uat.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3241-3243)GAC>CAC		F-box and leucine-rich repeat protein 10 isoform							34.0	37.0	36.0					12																	121880003		2062	4189	6251	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880003C>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3241G>C	12.37:g.121880003C>G	ENSP00000366271:p.Asp1081His					KDM2B_uc001uaq.2_Missense_Mutation_p.D521H|KDM2B_uc010szy.1_Missense_Mutation_p.D521H|KDM2B_uc001uar.2_Missense_Mutation_p.D672H|KDM2B_uc001uas.2_Missense_Mutation_p.D1012H|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.D329H|KDM2B_uc010szx.1_Missense_Mutation_p.D329H|KDM2B_uc001uap.2_RNA	p.D1081H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			19	3345	-			1081			F-box.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3241G>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091525	0.94149	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.17213	2.29;2.29;2.29	5.85	5.85	0.93711	F-box domain, cyclin-like (2);	0.187925	0.36703	N	0.002442	T	0.44891	0.1315	M	0.74467	2.265	0.80722	D	1	P;D;D;P	0.71674	0.941;0.998;0.998;0.928	P;D;D;P	0.66847	0.798;0.947;0.924;0.665	T	0.30851	-0.9964	10	0.72032	D	0.01	-39.5956	20.1572	0.98116	0.0:1.0:0.0:0.0	.	521;1081;1012;524	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	H	1069;449;1012;1081;524;1084	ENSP00000437821:D449H;ENSP00000366269:D1012H;ENSP00000366271:D1081H	ENSP00000261824:D1084H	D	-	1	0	KDM2B	120364386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.762000	0.94881	0.650000	0.86243	GAC		PASS	0.652	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		3	18	3	18	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124335508	124335508	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:124335508G>A	ENST00000409039.3	+	34	5847	c.5822G>A	c.(5821-5823)cGc>cAc	p.R1941H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1941	AAA 1. {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.R533H(1)|p.R1941H(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)		TACGCAGGCCGCACGGAGCTG	0.592																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5821-5823)CGC>CAC		dynein, axonemal, heavy chain 10							39.0	45.0	43.0					12																	124335508		2156	4285	6441	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335508G>A	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.5822G>A	12.37:g.124335508G>A	ENSP00000386770:p.Arg1941His						p.R1941H	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5847	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1941			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5822G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	33	5.209467	0.95069	.	.	ENSG00000197653	ENST00000409039	T	0.15017	2.46	5.48	4.58	0.56647	ATPase, AAA+ type, core (1);	0.000000	0.64402	U	0.000001	T	0.56485	0.1988	H	0.95850	3.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73729	-0.3891	10	0.87932	D	0	.	16.2413	0.82409	0.0:0.133:0.867:0.0	.	1941	Q8IVF4	DYH10_HUMAN	H	1941	ENSP00000386770:R1941H	ENSP00000386770:R1941H	R	+	2	0	DNAH10	122901461	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.294000	0.44707	0.655000	0.94253	CGC		PASS	0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			14	21	14	21	---	---	---	---
AACS	65985	broad.mit.edu	37	12	125609519	125609519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:125609519G>T	ENST00000316519.6	+	12	1464	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*	AACS_ENST00000261686.6_Nonsense_Mutation_p.E420*|AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_Nonsense_Mutation_p.E18*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	420					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.E420*(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCAGAGCTACGAGTATGTCTA	0.582																																						uc001uhc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1258-1260)GAG>TAG		acetoacetyl-CoA synthetase							101.0	93.0	96.0					12																	125609519		2203	4300	6503	SO:0001587	stop_gained	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125609519G>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1258G>T	12.37:g.125609519G>T	ENSP00000324842:p.Glu420*					AACS_uc001uhd.2_Nonsense_Mutation_p.E420*|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Nonsense_Mutation_p.E18*	p.E420*	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	12	1464	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		420					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Nonsense_Mutation	SNP	ENST00000316519.6	37	c.1258G>T	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	39	7.434897	0.98282	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000441247;ENST00000316543;ENST00000538851	.	.	.	4.85	4.85	0.62838	.	0.253437	0.45606	D	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.9935	0.89176	0.0:0.0:1.0:0.0	.	.	.	.	X	420;420;239;18;85	.	ENSP00000261686:E420X	E	+	1	0	AACS	124175472	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.856000	0.92245	2.237000	0.73441	0.462000	0.41574	GAG		PASS	0.582	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		5	70	5	70	---	---	---	---
GALNT9	50614	broad.mit.edu	37	12	132688051	132688051	+	Splice_Site	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr12:132688051G>A	ENST00000328957.8	-	7	1261	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GALNT9_ENST00000535228.1_Splice_Site_p.S172L|GALNT9_ENST00000541995.1_Splice_Site_p.S55L|GALNT9_ENST00000397325.2_Splice_Site_p.S55L	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	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.S421L(1)|p.S55L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGGACTCACCGACATGGGGAT	0.682																																					Colon(186;2147 2752 13553 41466)	uc001ukc.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1261-1263)TCG>TTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							43.0	46.0	45.0					12																	132688051		2073	4199	6272	SO:0001630	splice_region_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688051G>A	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1263+1C>T	12.37:g.132688051G>A						GALNT9_uc009zyr.2_Missense_Mutation_p.S195L|GALNT9_uc001ukb.2_Missense_Mutation_p.S278L|GALNT9_uc001uka.2_Missense_Mutation_p.S55L	p.S421L	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1378	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	421			Lumenal (Potential).		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1262C>T		.	.	.	.	.	.	.	.	.	.	g	12.27	1.887299	0.33348	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	3.87	2.97	0.34412	.	0.220504	0.45126	D	0.000382	T	0.47728	0.1461	N	0.12182	0.205	0.21719	N	0.999571	B;B;B	0.20887	0.049;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30268	-0.9984	10	0.30854	T	0.27	.	8.4984	0.33144	0.0883:0.1557:0.756:0.0	.	172;421;278	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	L	55;421;172;55;55	ENSP00000380488:S55L;ENSP00000329846:S421L;ENSP00000439745:S172L;ENSP00000440544:S55L;ENSP00000444709:S55L	ENSP00000329846:S421L	S	-	2	0	GALNT9	131254004	0.998000	0.40836	0.565000	0.28409	0.375000	0.29983	2.717000	0.47227	0.714000	0.32081	0.448000	0.29417	TCG		PASS	0.682	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	Missense_Mutation	8	18	8	18	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28880836	28880836	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr13:28880836G>T	ENST00000282397.4	-	29	4045	c.3794C>A	c.(3793-3795)cCc>cAc	p.P1265H	FLT1_ENST00000543394.1_Missense_Mutation_p.P288H|FLT1_ENST00000540678.1_Missense_Mutation_p.P483H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1265					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.P1265H(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGAGGCCTTGGGTTTGCTGTC	0.527																																						uc001usb.3																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(3793-3795)CCC>CAC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						95.0	88.0	90.0					13																	28880836		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880836G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3794C>A	13.37:g.28880836G>T	ENSP00000282397:p.Pro1265His					FLT1_uc010aap.2_Missense_Mutation_p.P270H|FLT1_uc010aaq.2_Missense_Mutation_p.P390H|FLT1_uc001usa.3_Missense_Mutation_p.P483H	p.P1265H	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4079	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1265			Cytoplasmic (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3794C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240470	0.58995	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77750	-0.88;-1.12;-1.12	5.23	5.23	0.72850	.	0.584854	0.17127	N	0.185984	T	0.67869	0.2939	N	0.16743	0.435	0.80722	D	1	P	0.49961	0.93	P	0.46975	0.533	T	0.66456	-0.5919	10	0.34782	T	0.22	.	11.9065	0.52715	0.0:0.0:0.782:0.218	.	1265	P17948	VGFR1_HUMAN	H	1265;288;483	ENSP00000282397:P1265H;ENSP00000437841:P288H;ENSP00000443311:P483H	ENSP00000282397:P1265H	P	-	2	0	FLT1	27778836	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.872000	0.56085	2.597000	0.87782	0.650000	0.86243	CCC		PASS	0.527	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			18	17	18	17	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599505	29599505	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr13:29599505G>T	ENST00000431530.3	+	1	758	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	224						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A234S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCAGACCACGCTGTCCCGGC	0.592																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GCT>TCT		hypothetical protein LOC23281 isoform a							40.0	42.0	41.0					13																	29599505		2200	4300	6500	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599505G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.700G>T	13.37:g.29599505G>T	ENSP00000392057:p.Ala234Ser						p.A234S	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	758	+			224					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.700G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	3.343	-0.134111	0.06711	.	.	ENSG00000132938	ENST00000431530	T	0.11169	2.8	5.48	1.7	0.24286	.	1.488280	0.04074	N	0.308505	T	0.03959	0.0111	N	0.01800	-0.715	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37888	-0.9686	9	.	.	.	.	2.8439	0.05537	0.1366:0.1034:0.1515:0.6085	.	224	Q5JR59	MTUS2_HUMAN	S	234	ENSP00000392057:A234S	.	A	+	1	0	MTUS2	28497505	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.278000	0.18753	0.347000	0.23924	-0.410000	0.06199	GCT		PASS	0.592	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		10	21	10	21	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72204798	72204798	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr13:72204798G>A	ENST00000359684.2	-	3	1021	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	DACH1_ENST00000313174.7_Missense_Mutation_p.A341V|DACH1_ENST00000305425.4_Missense_Mutation_p.A341V|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	341	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.A341V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTGCTTcagcaatagctgc	0.393																																						uc010thn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1015-1017)GCT>GTT		dachshund homolog 1 isoform a							137.0	125.0	128.0					13																	72204798		1830	4080	5910	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204798G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1022C>T	13.37:g.72204798G>A	ENSP00000352712:p.Ala341Val					DACH1_uc010tho.1_Missense_Mutation_p.A339V|DACH1_uc010thp.1_Intron	p.A339V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	4	1439	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	339			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1016C>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.488589	0.84854	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.38240	1.21;1.31;1.15	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.64158	-0.6473	10	0.72032	D	0.01	-11.9939	20.3736	0.98901	0.0:0.0:1.0:0.0	.	339;339	Q9UI36-3;Q9UI36-2	.;.	V	341	ENSP00000304994:A341V;ENSP00000318506:A341V;ENSP00000352712:A341V	ENSP00000304994:A341V	A	-	2	0	DACH1	71102799	1.000000	0.71417	0.473000	0.27253	0.973000	0.67179	9.357000	0.97099	2.820000	0.97059	0.650000	0.86243	GCT		PASS	0.393	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		21	26	21	26	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249223	20249223	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:20249223A>T	ENST00000315957.4	+	1	823	c.742A>T	c.(742-744)Att>Ttt	p.I248F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I248F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACATTACCATTGTGGTGCT	0.438																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)ATT>TTT		olfactory receptor, family 4, subfamily M,							233.0	212.0	219.0					14																	20249223		2203	4297	6500	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249223A>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.742A>T	14.37:g.20249223A>T	ENSP00000319654:p.Ile248Phe						p.I248F	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	742	+	all_cancers(95;0.00108)		248			Helical; Name=6; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.742A>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403294	0.62288	.	.	ENSG00000176299	ENST00000315957	T	0.00158	8.65	4.42	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.00144	0.0004	L	0.46819	1.47	0.37594	D	0.920288	B	0.25850	0.136	B	0.23716	0.048	T	0.68777	-0.5319	10	0.87932	D	0	-13.9323	6.0609	0.19837	0.8872:0.0:0.1128:0.0	.	248	Q8NGD0	OR4M1_HUMAN	F	248	ENSP00000319654:I248F	ENSP00000319654:I248F	I	+	1	0	OR4M1	19319063	0.017000	0.18338	1.000000	0.80357	0.979000	0.70002	1.042000	0.30303	1.998000	0.58463	0.414000	0.27820	ATT		PASS	0.438	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			30	195	30	195	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692525	20692525	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:20692525C>T	ENST00000315519.2	+	1	735	c.657C>T	c.(655-657)acC>acT	p.T219T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T219T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGTTACACCTTCAACTCGA	0.507																																						uc010tlc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(655-657)ACC>ACT		olfactory receptor, family 11, subfamily H,							128.0	116.0	120.0					14																	20692525		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692525C>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.657C>T	14.37:g.20692525C>T							p.T219T	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	657	+	all_cancers(95;0.00108)		219			Helical; Name=5; (Potential).		Q6IF08	Silent	SNP	ENST00000315519.2	37	c.657C>T	CCDS32033.1																																																																																				PASS	0.507	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			8	25	8	25	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23607195	23607195	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:23607195G>A	ENST00000316902.7	-	7	1676	c.951C>T	c.(949-951)atC>atT	p.I317I	SLC7A8_ENST00000532568.1_5'Flank|SLC7A8_ENST00000453702.1_Silent_p.I114I|SLC7A8_ENST00000529705.2_Silent_p.I212I|SLC7A8_ENST00000422941.2_Silent_p.I93I|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	317					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.I317I(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGGGCATGATCCAGGCCA	0.582																																						uc001wiz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(949-951)ATC>ATT		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						118.0	109.0	112.0					14																	23607195		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23607195G>A	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.951C>T	14.37:g.23607195G>A						SLC7A8_uc001wix.2_Silent_p.I114I|SLC7A8_uc010tnk.1_Silent_p.I93I|SLC7A8_uc010tnl.1_Silent_p.I212I|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron	p.I317I	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	7	1677	-	all_cancers(95;4.6e-05)		317			Helical; (Potential).		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.951C>T	CCDS9590.1																																																																																				PASS	0.582	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			36	74	36	74	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724318	38724318	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:38724318T>C	ENST00000342213.2	-	1	1256	c.910A>G	c.(910-912)Agg>Ggg	p.R304G		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	304						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R304G(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCGGGCGCCTGGTGGGCACC	0.657																																						uc001wum.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(910-912)AGG>GGG		C-type lectin domain family 14, member A							44.0	49.0	47.0					14																	38724318		2199	4289	6488	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724318T>C		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.910A>G	14.37:g.38724318T>C	ENSP00000353013:p.Arg304Gly						p.R304G	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1257	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		304			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.910A>G	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974959	0.34848	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74421	-0.84	4.06	-1.6	0.08426	.	1.216530	0.06374	N	0.714095	T	0.54775	0.1879	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.38415	-0.9662	10	0.46703	T	0.11	-1.0725	0.7848	0.01047	0.3782:0.1038:0.1683:0.3498	.	304	Q86T13	CLC14_HUMAN	G	304;69	ENSP00000353013:R304G	ENSP00000353013:R304G	R	-	1	2	CLEC14A	37794069	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.884000	0.04166	-0.260000	0.09418	0.533000	0.62120	AGG		PASS	0.657	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		24	25	24	25	---	---	---	---
PNN	5411	broad.mit.edu	37	14	39650180	39650180	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:39650180A>G	ENST00000216832.4	+	9	1334	c.1267A>G	c.(1267-1269)Aaa>Gaa	p.K423E	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	423	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.K423E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TGAAGCTAGCAAAGAATTGGA	0.378																																						uc001wuw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1267-1269)AAA>GAA		pinin, desmosome associated protein							73.0	74.0	74.0					14																	39650180		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650180A>G	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1267A>G	14.37:g.39650180A>G	ENSP00000216832:p.Lys423Glu						p.K423E	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1364	+	Hepatocellular(127;0.213)		423			Glu-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.1267A>G	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251062	0.22880	.	.	ENSG00000100941	ENST00000216832	T	0.53857	0.6	5.9	4.76	0.60689	.	0.398402	0.32503	N	0.006011	T	0.50735	0.1633	M	0.72894	2.215	0.80722	D	1	P	0.45044	0.849	B	0.42738	0.396	T	0.54159	-0.8335	10	0.44086	T	0.13	-19.5954	7.4492	0.27229	0.7842:0.1442:0.0716:0.0	.	423	Q9H307	PININ_HUMAN	E	423	ENSP00000216832:K423E	ENSP00000216832:K423E	K	+	1	0	PNN	38719931	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.936000	0.56568	2.249000	0.74217	0.528000	0.53228	AAA		PASS	0.378	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		33	74	33	74	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45605601	45605601	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:45605601G>T	ENST00000267430.5	+	1	452	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L	FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.V123L|FANCM_ENST00000542564.2_Missense_Mutation_p.V123L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	123	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.V123L(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTGCCGCCGTGGTCATGTA	0.552								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(367-369)GTG>TTG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							76.0	80.0	79.0					14																	45605601		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605601G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.367G>T	14.37:g.45605601G>T	ENSP00000267430:p.Val123Leu					FANCM_uc001wwc.2_Missense_Mutation_p.V123L|FANCM_uc010anf.2_Missense_Mutation_p.V123L|FKBP3_uc010tqf.1_5'Flank	p.V123L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			1	466	+			123			Helicase ATP-binding.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.367G>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515862	0.96402	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.11712	2.75;2.75;2.75	5.65	5.65	0.86999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.29908	0.895	0.54753	D	0.999985	D;D;P	0.64830	0.973;0.994;0.751	D;D;P	0.77004	0.962;0.989;0.644	T	0.00605	-1.1648	10	0.72032	D	0.01	.	17.2295	0.86981	0.0:0.0:1.0:0.0	.	123;123;123	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	L	123	ENSP00000450596:V123L;ENSP00000267430:V123L;ENSP00000442493:V123L	ENSP00000267430:V123L	V	+	1	0	FANCM	44675351	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.277000	0.95755	2.662000	0.90505	0.563000	0.77884	GTG		PASS	0.552	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		18	41	18	41	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52735209	52735209	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:52735209A>G	ENST00000306051.2	+	1	779	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	PTGDR_ENST00000553372.1_Missense_Mutation_p.Y226C	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	226					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.Y226C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCAACCTCTATGCGATGCAC	0.701																																						uc001wzq.2																			1	Substitution - Missense(1)	p.Y226H(1)	lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(676-678)TAT>TGT		prostaglandin D2 receptor	Nedocromil(DB00716)						54.0	46.0	49.0					14																	52735209		2203	4299	6502	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735209A>G	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.677A>G	14.37:g.52735209A>G	ENSP00000303424:p.Tyr226Cys						p.Y226C	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	779	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		226			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.677A>G	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274674	0.23307	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37411	1.2;1.2	4.14	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000496	T	0.26231	0.0640	L	0.27053	0.805	0.32837	D	0.504872	B	0.23442	0.085	B	0.29440	0.102	T	0.27020	-1.0086	10	0.18276	T	0.48	-27.1237	12.9633	0.58470	1.0:0.0:0.0:0.0	.	226	Q13258	PD2R_HUMAN	C	226	ENSP00000303424:Y226C;ENSP00000452408:Y226C	ENSP00000303424:Y226C	Y	+	2	0	PTGDR	51804959	0.003000	0.15002	0.911000	0.35937	0.753000	0.42808	0.076000	0.14712	2.096000	0.63516	0.460000	0.39030	TAT		PASS	0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		9	26	9	26	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64593056	64593056	+	Silent	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:64593056A>C	ENST00000344113.4	+	72	13778	c.13566A>C	c.(13564-13566)acA>acC	p.T4522T	SYNE2_ENST00000555002.1_Silent_p.T1156T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.T907T|SYNE2_ENST00000357395.3_Silent_p.T907T|SYNE2_ENST00000554584.1_Silent_p.T4473T|SYNE2_ENST00000358025.3_Silent_p.T4522T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T4522T(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATATGACAGAAGAAGCAT	0.368																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(13564-13566)ACA>ACC		spectrin repeat containing, nuclear envelope 2							50.0	55.0	53.0					14																	64593056		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64593056A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13566A>C	14.37:g.64593056A>C						SYNE2_uc001xgl.2_Silent_p.T4522T|SYNE2_uc010apy.2_Silent_p.T907T|SYNE2_uc010apz.1_Silent_p.T414T	p.T4522T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	72	13796	+			4522			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.13566A>C	CCDS41963.1																																																																																				PASS	0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	32	16	32	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68052752	68052752	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:68052752C>A	ENST00000329153.5	+	28	4003	c.3871C>A	c.(3871-3873)Cca>Aca	p.P1291T	PLEKHH1_ENST00000559832.1_3'UTR|PLEKHH1_ENST00000417684.2_Missense_Mutation_p.P156T	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1291	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.P1291T(1)|p.P1330T(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TAGATCTATCCCAGACAAGAG	0.478																																						uc001xjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3871-3873)CCA>ACA		pleckstrin homology domain containing, family H							230.0	224.0	226.0					14																	68052752		1955	4147	6102	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68052752C>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3871C>A	14.37:g.68052752C>A	ENSP00000330278:p.Pro1291Thr					PLEKHH1_uc010tsw.1_Missense_Mutation_p.P859T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P806T|PLEKHH1_uc010tsx.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjo.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjp.1_Missense_Mutation_p.P156T	p.P1291T	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	28	4013	+			1291			FERM.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.3871C>A	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	3.925	-0.017425	0.07681	.	.	ENSG00000054690	ENST00000329153;ENST00000417684	T	0.70986	-0.53	5.38	4.49	0.54785	FERM domain (1);	0.384836	0.29473	N	0.012041	T	0.58438	0.2122	L	0.36672	1.1	0.09310	N	1	P;B;B	0.44478	0.836;0.242;0.004	B;B;B	0.41036	0.346;0.075;0.003	T	0.55205	-0.8177	10	0.49607	T	0.09	.	7.2741	0.26273	0.2066:0.7095:0.0:0.0839	.	156;156;1291	E7ESY2;B3KWD2;Q9ULM0	.;.;PKHH1_HUMAN	T	1291;156	ENSP00000330278:P1291T	ENSP00000330278:P1291T	P	+	1	0	PLEKHH1	67122505	0.929000	0.31497	0.814000	0.32528	0.593000	0.36681	1.661000	0.37408	1.515000	0.48885	0.655000	0.94253	CCA		PASS	0.478	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		8	189	8	189	---	---	---	---
EXD2	55218	broad.mit.edu	37	14	69701606	69701606	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:69701606G>C	ENST00000409018.3	+	5	1035	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.E178Q|EXD2_ENST00000409675.1_Missense_Mutation_p.E178Q|EXD2_ENST00000409014.1_Missense_Mutation_p.E178Q|EXD2_ENST00000409242.1_Missense_Mutation_p.E178Q|EXD2_ENST00000409949.1_Missense_Mutation_p.E178Q|EXD2_ENST00000312994.5_Missense_Mutation_p.E303Q	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	303							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.E303Q(1)|p.E178Q(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATTGGGAGAAGAGGTTAATGG	0.478																																						uc001xkt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(532-534)GAG>CAG		exonuclease 3'-5' domain containing 2							70.0	71.0	71.0					14																	69701606		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69701606G>C	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.907G>C	14.37:g.69701606G>C	ENSP00000387331:p.Glu303Gln					EXD2_uc001xku.2_Missense_Mutation_p.E48Q|EXD2_uc001xkv.2_Missense_Mutation_p.E303Q|EXD2_uc001xkw.2_Missense_Mutation_p.E178Q|EXD2_uc010aqt.2_Missense_Mutation_p.E303Q|EXD2_uc010tte.1_Missense_Mutation_p.E303Q|EXD2_uc001xky.2_Missense_Mutation_p.E178Q	p.E178Q	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			7	1191	+			178					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.532G>C	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409521	0.42715	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.64618	0.29;-0.11;-0.11;-0.11;-0.11;0.29;-0.11	5.42	4.51	0.55191	.	0.401229	0.26871	N	0.022072	T	0.54271	0.1848	L	0.34521	1.04	0.38166	D	0.939189	B;B;B	0.27559	0.145;0.181;0.026	B;B;B	0.32289	0.143;0.042;0.042	T	0.55335	-0.8157	10	0.33940	T	0.23	-10.2136	15.7799	0.78252	0.0:0.0:0.8626:0.1374	.	303;178;178	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	Q	303;178;178;178;178;303;178	ENSP00000387331:E303Q;ENSP00000386915:E178Q;ENSP00000386762:E178Q;ENSP00000386632:E178Q;ENSP00000386839:E178Q;ENSP00000313140:E303Q;ENSP00000392177:E178Q	ENSP00000313140:E303Q	E	+	1	0	EXD2	68771359	1.000000	0.71417	0.968000	0.41197	0.660000	0.38997	4.638000	0.61353	1.401000	0.46761	0.650000	0.86243	GAG		PASS	0.478	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			17	40	17	40	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444805	71444805	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:71444805G>T	ENST00000304743.2	+	6	2197	c.1751G>T	c.(1750-1752)cGa>cTa	p.R584L	PCNX_ENST00000439984.3_Missense_Mutation_p.R584L|PCNX_ENST00000238570.5_Missense_Mutation_p.R584L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	584						integral component of membrane (GO:0016021)		p.R584L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGCTTTCGAGGTGTTTCT	0.478																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1750-1752)CGA>CTA		pecanex-like 1							112.0	108.0	109.0					14																	71444805		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444805G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1751G>T	14.37:g.71444805G>T	ENSP00000304192:p.Arg584Leu					PCNX_uc001xmn.3_Missense_Mutation_p.R584L|PCNX_uc010are.1_Missense_Mutation_p.R584L	p.R584L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2197	+			584					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1751G>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734539	0.48939	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.02421	4.3;4.3;4.3	5.87	5.87	0.94306	.	0.154457	0.44902	D	0.000411	T	0.06554	0.0168	N	0.24115	0.695	0.58432	D	0.999999	P;P;D	0.69078	0.91;0.91;0.997	B;B;D	0.65140	0.337;0.337;0.932	T	0.55515	-0.8129	10	0.28530	T	0.3	.	13.4071	0.60919	0.0714:0.0:0.9286:0.0	.	584;584;584	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	L	584	ENSP00000304192:R584L;ENSP00000238570:R584L;ENSP00000396617:R584L	ENSP00000238570:R584L	R	+	2	0	PCNX	70514558	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.455000	0.80726	2.779000	0.95612	0.655000	0.94253	CGA		PASS	0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	113	5	113	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74876045	74876045	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:74876045G>T	ENST00000554823.1	-	1	464	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.Q135K			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	135					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q135K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCTTCCTCCTGGTCATCCTCC	0.502																																						uc001xpx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CAG>AAG		transmembrane protein 90A							90.0	96.0	94.0					14																	74876045		2067	4188	6255	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876045G>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.403C>A	14.37:g.74876045G>T	ENSP00000450439:p.Gln135Lys						p.Q135K	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	2	651	-			135						Missense_Mutation	SNP	ENST00000554823.1	37	c.403C>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	G	0.476	-0.882378	0.02530	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95171	-3.63;-3.63	4.63	3.69	0.42338	.	0.514232	0.15540	N	0.257031	D	0.87107	0.6095	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.73007	-0.4118	10	0.23302	T	0.38	-2.3196	5.8222	0.18534	0.1072:0.2143:0.6786:0.0	.	135	A6NDD5	SYN1L_HUMAN	K	135	ENSP00000331474:Q135K;ENSP00000450439:Q135K	ENSP00000331474:Q135K	Q	-	1	0	SYNDIG1L	73945798	.	.	0.267000	0.24556	0.186000	0.23388	.	.	2.402000	0.81655	0.467000	0.42956	CAG		PASS	0.502	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		25	72	25	72	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96797752	96797752	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:96797752C>A	ENST00000359933.4	-	11	2584	c.1691G>T	c.(1690-1692)cGa>cTa	p.R564L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	564					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R564L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAACACTGCTCGGAAAGACTT	0.368																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1690-1692)CGA>CTA		ATG2 autophagy related 2 homolog B							95.0	95.0	95.0					14																	96797752		1847	4107	5954	SO:0001583	missense	55102							g.chr14:96797752C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1691G>T	14.37:g.96797752C>A	ENSP00000353010:p.Arg564Leu						p.R564L	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	11	2056	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	564					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1691G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	31	5.058462	0.93846	.	.	ENSG00000066739	ENST00000359933	T	0.12569	2.67	5.5	5.5	0.81552	.	0.098314	0.41823	U	0.000810	T	0.20007	0.0481	M	0.64997	1.995	0.49915	D	0.999838	P	0.44877	0.845	B	0.42495	0.389	T	0.00559	-1.1671	10	0.87932	D	0	.	14.9827	0.71321	0.0:0.9294:0.0:0.0706	.	564	Q96BY7	ATG2B_HUMAN	L	564	ENSP00000353010:R564L	ENSP00000353010:R564L	R	-	2	0	ATG2B	95867505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.151000	0.64875	2.748000	0.94277	0.655000	0.94253	CGA		PASS	0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		4	84	4	84	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100803432	100803432	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:100803432G>T	ENST00000355338.2	-	10	1839	c.1221C>A	c.(1219-1221)ctC>ctA	p.L407L	WARS_ENST00000557135.1_Silent_p.L407L|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000392882.2_Silent_p.L407L|WARS_ENST00000344102.5_Silent_p.L366L|WARS_ENST00000358655.4_Silent_p.L366L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Silent_p.L366L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	407					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.L407L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CGTCGTCCTCGAGGAAGAAGG	0.592																																						uc001yhf.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1219-1221)CTC>CTA		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						247.0	209.0	222.0					14																	100803432		2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100803432G>T	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1221C>A	14.37:g.100803432G>T						WARS_uc001yhe.1_Silent_p.L213L|WARS_uc001yhg.1_Silent_p.L407L|WARS_uc001yhh.1_Silent_p.L407L|WARS_uc001yhi.1_Silent_p.L366L|WARS_uc001yhj.1_Silent_p.L366L|WARS_uc001yhk.1_Silent_p.L366L|WARS_uc001yhl.1_Silent_p.L407L	p.L407L	NM_173701	NP_776049	P23381	SYWC_HUMAN			9	1305	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	407					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.1221C>A	CCDS9960.1																																																																																				PASS	0.592	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		7	231	7	231	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102516143	102516143	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:102516143G>A	ENST00000360184.4	+	76	13772	c.13608G>A	c.(13606-13608)ctG>ctA	p.L4536L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4536					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.L4536L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCTGGTCCCTGGAGGAGCTCT	0.597																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13606-13608)CTG>CTA		cytoplasmic dynein 1 heavy chain 1							48.0	45.0	46.0					14																	102516143		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516143G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13608G>A	14.37:g.102516143G>A							p.L4536L	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			76	13772	+			4536					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13608G>A	CCDS9966.1																																																																																				PASS	0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		23	25	23	25	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408151	105408151	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:105408151A>G	ENST00000333244.5	-	7	13756	c.13637T>C	c.(13636-13638)cTg>cCg	p.L4546P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4546						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L4546P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTGGGCAGGTGCCCTTT	0.622																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13636-13638)CTG>CCG		AHNAK nucleoprotein 2							138.0	144.0	142.0					14																	105408151		1874	4101	5975	SO:0001583	missense	113146					nucleus		g.chr14:105408151A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13637T>C	14.37:g.105408151A>G	ENSP00000353114:p.Leu4546Pro					AHNAK2_uc001ypx.2_Missense_Mutation_p.L4446P	p.L4546P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13757	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4546					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13637T>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.528836	0.27387	.	.	ENSG00000185567	ENST00000333244	T	0.02280	4.36	3.81	3.81	0.43845	.	1.799640	0.04956	U	0.461292	T	0.12902	0.0313	M	0.73962	2.25	0.54753	D	0.999986	D	0.71674	0.998	D	0.70227	0.968	T	0.00573	-1.1664	10	0.34782	T	0.22	.	11.8236	0.52254	1.0:0.0:0.0:0.0	.	4546	Q8IVF2	AHNK2_HUMAN	P	4546	ENSP00000353114:L4546P	ENSP00000353114:L4546P	L	-	2	0	AHNAK2	104479196	0.000000	0.05858	0.792000	0.32020	0.332000	0.28634	0.689000	0.25437	1.371000	0.46172	0.254000	0.18369	CTG		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		91	181	91	181	---	---	---	---
IGHV3-7	28452	broad.mit.edu	37	14	106518581	106518581	+	RNA	SNP	C	C	A	rs372574950		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:106518581C>A	ENST00000390598.2	-	0	248									immunoglobulin heavy variable 3-7																		TGGAGCCTGGCGGACCCAGCT	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							161.0	157.0	158.0					14																	106518581		1862	4093	5955			8755							g.chr14:106518581C>A	M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518581C>A														1630		-									RNA	SNP	ENST00000390598.2	37	c.32856G>T																																																																																					PASS	0.572	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325659.1	NG_001019		5	187	5	187	---	---	---	---
IGHV1OR15-3	646370	broad.mit.edu	37	15	22466062	22466062	+	IGR	SNP	G	G	A	rs537401773	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:22466062G>A								AC010760.1 (5711 upstream) : IGHV4OR15-8 (6855 downstream)																							TGTGTCTCTCGCACAGTAATA	0.517													g|||	3	0.000599042	0.0	0.0	5008	,	,		30090	0.0		0.0	False		,,,				2504	0.0031					uc001yui.1																			0													Homo sapiens clone IgA5728-2 immunoglobulin A heavy chain mRNA, partial cds.							369.0	345.0	353.0					15																	22466062		2101	4217	6318	SO:0001628	intergenic_variant	0							g.chr15:22466062G>A																													15.37:g.22466062G>A														1		-									RNA	SNP		37	c.29C>T																																																																																				0	PASS	0.517									28	390	28	390	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26812774	26812774	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:26812774C>A	ENST00000311550.5	-	7	900	c.789G>T	c.(787-789)gtG>gtT	p.V263V	GABRB3_ENST00000545868.1_Silent_p.V178V|GABRB3_ENST00000541819.2_Silent_p.V319V|GABRB3_ENST00000400188.3_Silent_p.V192V|GABRB3_ENST00000299267.4_Silent_p.V263V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	263					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.V263V(4)|p.V319V(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAGAAGGACACCCACGACA	0.398																																						uc001zaz.2																			6	Substitution - coding silent(6)		lung(6)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(787-789)GTG>GTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						132.0	112.0	119.0					15																	26812774		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812774C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.789G>T	15.37:g.26812774C>A						GABRB3_uc010uae.1_Silent_p.V178V|GABRB3_uc001zba.2_Silent_p.V263V|GABRB3_uc001zbb.2_Silent_p.V319V	p.V263V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	931	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	263			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.789G>T	CCDS10019.1																																																																																				PASS	0.398	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			12	46	12	46	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346344	29346344	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:29346344A>G	ENST00000558402.1	+	5	856	c.257A>G	c.(256-258)tAt>tGt	p.Y86C	APBA2_ENST00000411764.1_Missense_Mutation_p.Y86C|APBA2_ENST00000558259.1_Missense_Mutation_p.Y86C|APBA2_ENST00000561069.1_Missense_Mutation_p.Y86C|APBA2_ENST00000558330.1_Missense_Mutation_p.Y86C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	86					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.Y86C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGAGGACTATGACGAGGGC	0.617																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TAT>TGT		amyloid beta A4 precursor protein-binding,							135.0	129.0	131.0					15																	29346344		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346344A>G	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.257A>G	15.37:g.29346344A>G	ENSP00000453293:p.Tyr86Cys					APBA2_uc010azj.2_Missense_Mutation_p.Y86C|APBA2_uc010uat.1_Missense_Mutation_p.Y86C|APBA2_uc001zcl.2_Missense_Mutation_p.Y86C|APBA2_uc010uas.1_Missense_Mutation_p.Y86C	p.Y86C	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	464	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	86					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.257A>G	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546021	0.65198	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.49139	0.79	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.66939	2.045	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.65443	0.935;0.91;0.91	T	0.64841	-0.6312	10	0.41790	T	0.15	.	14.3352	0.66584	1.0:0.0:0.0:0.0	.	86;86;86	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	86	ENSP00000409312:Y86C	ENSP00000219865:Y86C	Y	+	2	0	APBA2	27133636	1.000000	0.71417	0.963000	0.40424	0.979000	0.70002	4.288000	0.59007	1.962000	0.57031	0.528000	0.53228	TAT		PASS	0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		15	92	15	92	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42702161	42702161	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:42702161G>C	ENST00000397163.3	+	19	2302	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	CAPN3_ENST00000337571.4_Missense_Mutation_p.E30Q|CAPN3_ENST00000356316.3_Missense_Mutation_p.E602Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.E183Q|CAPN3_ENST00000397204.4_Missense_Mutation_p.E30Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.E689Q|CAPN3_ENST00000561817.1_Missense_Mutation_p.E30Q|CAPN3_ENST00000357568.3_Missense_Mutation_p.E689Q|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000349748.3_Missense_Mutation_p.E603Q|CAPN3_ENST00000569136.1_Missense_Mutation_p.E30Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	695	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E689Q(1)|p.E602Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GTTCACACTGGAGTCCTGCCG	0.607																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2083-2085)GAG>CAG		calpain 3 isoform a							119.0	99.0	106.0					15																	42702161		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42702161G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2083G>C	15.37:g.42702161G>C	ENSP00000380349:p.Glu695Gln					CAPN3_uc001zpk.1_Missense_Mutation_p.E462Q|CAPN3_uc001zpl.1_Missense_Mutation_p.E602Q|CAPN3_uc010udf.1_Missense_Mutation_p.E608Q|CAPN3_uc010udg.1_Missense_Mutation_p.E560Q|CAPN3_uc001zpo.1_Missense_Mutation_p.E689Q|CAPN3_uc001zpp.1_Missense_Mutation_p.E603Q|CAPN3_uc001zpq.1_Missense_Mutation_p.E183Q|CAPN3_uc010bcv.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpr.1_Missense_Mutation_p.E30Q|CAPN3_uc001zps.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpt.1_Missense_Mutation_p.E30Q	p.E695Q	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	19	2389	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	695			EF-hand 2.|Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2083G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270295	0.95429	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	4.79	4.79	0.61399	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.90103	0.6908	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.992	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.999;0.999;0.954	D	0.91177	0.4973	10	0.62326	D	0.03	.	18.0246	0.89264	0.0:0.0:1.0:0.0	.	560;608;30;603;689;695;602	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	Q	602;183;695;689;603;689;183;30;30	ENSP00000348667:E602Q;ENSP00000380349:E695Q;ENSP00000350181:E689Q;ENSP00000183936:E603Q;ENSP00000326281:E689Q;ENSP00000380384:E183Q;ENSP00000336840:E30Q;ENSP00000380387:E30Q	ENSP00000326281:E689Q	E	+	1	0	CAPN3	40489453	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.657000	0.98554	2.480000	0.83734	0.491000	0.48974	GAG		PASS	0.607	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			16	40	16	40	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43367268	43367268	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:43367268C>A	ENST00000290650.4	-	4	515	c.437G>T	c.(436-438)gGa>gTa	p.G146V	UBR1_ENST00000382177.2_Missense_Mutation_p.G146V	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	146					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G146V(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAGAACCCTCCTCCAGTAGA	0.368																																						uc001zqq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(436-438)GGA>GTA		ubiquitin protein ligase E3 component n-recognin							159.0	168.0	165.0					15																	43367268		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43367268C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.437G>T	15.37:g.43367268C>A	ENSP00000290650:p.Gly146Val					UBR1_uc010udk.1_Missense_Mutation_p.G146V	p.G146V	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	4	503	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	146			UBR-type.		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.437G>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526800	0.85706	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	D;D	0.83250	-1.7;-1.7	5.32	5.32	0.75619	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.123969	0.52532	D	0.000068	D	0.93009	0.7775	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94122	0.7380	10	0.72032	D	0.01	-0.007	18.9934	0.92803	0.0:1.0:0.0:0.0	.	146;146	B4DYL2;Q8IWV7	.;UBR1_HUMAN	V	146	ENSP00000290650:G146V;ENSP00000371612:G146V	ENSP00000290650:G146V	G	-	2	0	UBR1	41154560	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.099000	0.76981	2.469000	0.83416	0.655000	0.94253	GGA		PASS	0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		6	139	6	139	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48426537	48426537	+	Splice_Site	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:48426537A>G	ENST00000341459.3	+	3	457	c.384A>G	c.(382-384)ctA>ctG	p.L128L	SLC24A5_ENST00000449382.2_Splice_Site_p.L68L	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	128					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.L128L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTGCTTTCCTAGGTAAATATT	0.393																																						uc001zwe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)CTA>CTG		solute carrier family 24, member 5 precursor							207.0	196.0	200.0					15																	48426537		2198	4297	6495	SO:0001630	splice_region_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48426537A>G	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.385+1A>G	15.37:g.48426537A>G						SLC24A5_uc010bel.2_Silent_p.L68L	p.L128L	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	3	457	+		all_lung(180;0.00217)	128			Helical; Name=2; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.384A>G	CCDS10128.1																																																																																				PASS	0.393	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	Silent	24	40	24	40	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52353627	52353627	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:52353627C>G	ENST00000261845.5	+	5	1804	c.997C>G	c.(997-999)Cat>Gat	p.H333D	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	333					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.H333D(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CCATCCTTTTCATATTGAAGA	0.353																																						uc002abp.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(997-999)CAT>GAT		mitogen-activated protein kinase 6							108.0	96.0	100.0					15																	52353627		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52353627C>G	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.997C>G	15.37:g.52353627C>G	ENSP00000261845:p.His333Asp						p.H333D	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	5	1791	+			333					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.997C>G	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431924	0.83776	.	.	ENSG00000069956	ENST00000261845	T	0.71341	-0.56	4.98	4.98	0.66077	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	L	0.47716	1.5	0.80722	D	1	P	0.47409	0.895	P	0.49528	0.614	T	0.71140	-0.4679	10	0.32370	T	0.25	-12.6613	18.247	0.89989	0.0:1.0:0.0:0.0	.	333	Q16659	MK06_HUMAN	D	333	ENSP00000261845:H333D	ENSP00000261845:H333D	H	+	1	0	MAPK6	50140919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.812000	0.86109	2.307000	0.77673	0.585000	0.79938	CAT		PASS	0.353	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		19	49	19	49	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56385972	56385972	+	Silent	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:56385972G>C	ENST00000559447.2	-	9	3934	c.3663C>G	c.(3661-3663)acC>acG	p.T1221T	RFX7_ENST00000423270.1_Silent_p.T1318T|RFX7_ENST00000317318.6_Silent_p.T1318T|RFX7_ENST00000422057.1_Silent_p.T1221T			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1221					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T1318T(1)|p.T1221T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TATTACTTTTGGTGAGGTAAG	0.383																																						uc010bfn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3952-3954)ACC>ACG		regulatory factor X domain containing 2							99.0	92.0	94.0					15																	56385972		1830	4079	5909	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56385972G>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3663C>G	15.37:g.56385972G>C						RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.T1132T	p.T1318T	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	3954	-			1221					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.3954C>G																																																																																					PASS	0.383	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		29	62	29	62	---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58971384	58971384	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:58971384C>G	ENST00000260408.3	-	4	866	c.423G>C	c.(421-423)gaG>gaC	p.E141D	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	141					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E141D(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TAATATATCTCTCTGCTGGCT	0.368																																						uc002afd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(421-423)GAG>GAC		ADAM metallopeptidase domain 10 precursor							85.0	75.0	78.0					15																	58971384		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58971384C>G	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.423G>C	15.37:g.58971384C>G	ENSP00000260408:p.Glu141Asp					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.E141D	p.E141D	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	4	867	-			141			Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.423G>C	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023886	0.75390	.	.	ENSG00000137845	ENST00000260408	T	0.06449	3.3	5.43	4.51	0.55191	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.58428	1.81	0.80722	D	1	B;B	0.27997	0.182;0.197	B;B	0.36464	0.115;0.225	T	0.13229	-1.0517	10	0.12430	T	0.62	-30.0593	10.1305	0.42676	0.0:0.8479:0.0:0.1521	.	141;141	A0AV88;O14672	.;ADA10_HUMAN	D	141	ENSP00000260408:E141D	ENSP00000260408:E141D	E	-	3	2	ADAM10	56758676	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.166000	0.31834	1.295000	0.44724	0.467000	0.42956	GAG		PASS	0.368	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		15	29	15	29	---	---	---	---
CA12	771	broad.mit.edu	37	15	63634235	63634235	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:63634235G>A	ENST00000178638.3	-	5	931	c.491C>T	c.(490-492)tCa>tTa	p.S164L	CA12_ENST00000344366.3_Missense_Mutation_p.S164L|CA12_ENST00000422263.2_Missense_Mutation_p.S104L	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	164					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S164L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAGGCCTTCTGACTTGTTGCT	0.473																																						uc002amc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)TCA>TTA		carbonic anhydrase XII isoform 1 precursor	Acetazolamide(DB00819)						85.0	71.0	76.0					15																	63634235		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63634235G>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.491C>T	15.37:g.63634235G>A	ENSP00000178638:p.Ser164Leu					CA12_uc002amd.2_Missense_Mutation_p.S164L|CA12_uc002ame.2_Missense_Mutation_p.S104L	p.S164L	NM_001218	NP_001209	O43570	CAH12_HUMAN			5	647	-			164			Extracellular (Potential).		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.491C>T	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936529	0.52972	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.55234	0.53;0.53;0.53	5.3	5.3	0.74995	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.511199	0.23153	N	0.051327	T	0.64638	0.2616	M	0.87456	2.885	0.50813	D	0.999893	P;P;B	0.48407	0.91;0.89;0.309	B;B;B	0.44133	0.442;0.314;0.087	T	0.74438	-0.3665	10	0.87932	D	0	.	17.5251	0.87798	0.0:0.0:1.0:0.0	.	104;164;164	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	L	164;164;104	ENSP00000178638:S164L;ENSP00000343088:S164L;ENSP00000403028:S104L	ENSP00000178638:S164L	S	-	2	0	CA12	61421288	1.000000	0.71417	0.344000	0.25628	0.524000	0.34500	5.961000	0.70356	2.470000	0.83445	0.655000	0.94253	TCA		PASS	0.473	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		16	19	16	19	---	---	---	---
HEXA	3073	broad.mit.edu	37	15	72639016	72639016	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:72639016C>A	ENST00000268097.5	-	11	1685	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	HEXA_ENST00000457859.2_Intron|HEXA_ENST00000429918.2_Missense_Mutation_p.E221D|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.E394D|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.E405D	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	394					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.E394D(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTGGAATATCCTCTCGCCACA	0.493																																						uc002aun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1180-1182)GAG>GAT		hexosaminidase A preproprotein							147.0	154.0	152.0					15																	72639016		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72639016C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1182G>T	15.37:g.72639016C>A	ENSP00000268097:p.Glu394Asp					uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E405D|HEXA_uc002auo.3_Missense_Mutation_p.E257D|HEXA_uc010bix.2_Missense_Mutation_p.E394D|HEXA_uc010biy.2_Missense_Mutation_p.E257D|HEXA_uc010uko.1_Missense_Mutation_p.E220D|HEXA_uc010biz.1_RNA	p.E394D	NM_000520	NP_000511	P06865	HEXA_HUMAN			11	1389	-			394					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.1182G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198031	0.22037	.	.	ENSG00000213614	ENST00000268097;ENST00000429918	D;D	0.96522	-4.04;-4.04	5.88	-2.48	0.06423	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.215927	0.39475	N	0.001349	D	0.84597	0.5507	N	0.04203	-0.255	0.40902	D	0.98416	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.0;0.006;0.0;0.0;0.001	T	0.67734	-0.5594	10	0.40728	T	0.16	-11.9897	0.3986	0.00422	0.2717:0.2408:0.2767:0.2108	.	221;405;221;274;394	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	D	394;221	ENSP00000268097:E394D;ENSP00000416187:E221D	ENSP00000268097:E394D	E	-	3	2	HEXA	70426070	0.000000	0.05858	0.240000	0.24138	0.279000	0.26890	-0.348000	0.07740	-0.105000	0.12132	-0.238000	0.12139	GAG		PASS	0.493	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		7	177	7	177	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83332678	83332678	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:83332678C>G	ENST00000261722.3	-	19	2461	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	AP3B2_ENST00000535348.1_Missense_Mutation_p.E720Q|AP3B2_ENST00000535359.1_Missense_Mutation_p.E771Q|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	752	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.E751Q(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTTTTCTCTCTGGCACCTTC	0.537																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2254-2256)GAG>CAG		adaptor-related protein complex 3, beta 2							45.0	47.0	47.0					15																	83332678		2038	4187	6225	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83332678C>G	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2254G>C	15.37:g.83332678C>G	ENSP00000261722:p.Glu752Gln					AP3B2_uc010uoi.1_Missense_Mutation_p.E771Q|AP3B2_uc010uoj.1_Missense_Mutation_p.E720Q|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.E388Q|AP3B2_uc002biy.1_5'Flank	p.E752Q	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		19	2431	-			752			Glu/Ser-rich.		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.2254G>C	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808850	0.31961	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.20738	2.05;2.05;2.05	5.64	3.59	0.41128	.	2.697770	0.00942	N	0.002841	T	0.18425	0.0442	N	0.19112	0.55	0.33074	D	0.535764	B;B;B	0.26445	0.149;0.149;0.149	B;B;B	0.25884	0.064;0.039;0.039	T	0.16070	-1.0415	10	0.21540	T	0.41	-8.9597	12.9648	0.58478	0.0:0.6895:0.3105:0.0	.	720;771;752	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	Q	752;720;771	ENSP00000261722:E752Q;ENSP00000438721:E720Q;ENSP00000440984:E771Q	ENSP00000261722:E752Q	E	-	1	0	AP3B2	81129733	0.255000	0.24002	0.005000	0.12908	0.810000	0.45777	3.095000	0.50235	1.320000	0.45209	0.563000	0.77884	GAG		PASS	0.537	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			15	31	15	31	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83935710	83935710	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:83935710G>A	ENST00000345382.2	-	3	398	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	BNC1_ENST00000569704.1_Missense_Mutation_p.P98S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	105					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P105S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCGAACGGGGATGGCCTGG	0.507																																						uc002bjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(313-315)CCC>TCC		basonuclin 1							104.0	96.0	99.0					15																	83935710		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935710G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.313C>T	15.37:g.83935710G>A	ENSP00000307041:p.Pro105Ser					BNC1_uc010uos.1_Missense_Mutation_p.P93S	p.P105S	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	401	-			105					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.313C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083205	0.94050	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03580	3.88	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00036	-1.2257	10	0.87932	D	0	-19.9853	19.614	0.95622	0.0:0.0:1.0:0.0	.	98;105	F5GY04;Q01954	.;BNC1_HUMAN	S	105;98	ENSP00000307041:P105S	ENSP00000307041:P105S	P	-	1	0	BNC1	81726714	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	9.554000	0.98121	2.873000	0.98535	0.561000	0.74099	CCC		PASS	0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		22	55	22	55	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84553954	84553954	+	Silent	SNP	G	G	T	rs544216870		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:84553954G>T	ENST00000286744.5	+	10	1286	c.1062G>T	c.(1060-1062)acG>acT	p.T354T	ADAMTSL3_ENST00000567476.1_Silent_p.T354T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	354						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T354T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCACTGTGACGTGTGGAGGAG	0.433																																						uc002bjz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1060-1062)ACG>ACT		ADAMTS-like 3 precursor							146.0	102.0	117.0					15																	84553954		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84553954G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1062G>T	15.37:g.84553954G>T						ADAMTSL3_uc010bmt.1_Silent_p.T354T|ADAMTSL3_uc010bmu.1_Silent_p.T354T	p.T354T	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1286	+			354					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.1062G>T	CCDS10326.1																																																																																				PASS	0.433	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		11	29	11	29	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88678483	88678483	+	Missense_Mutation	SNP	T	T	A	rs377127434		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr15:88678483T>A	ENST00000360948.2	-	9	1214	c.1053A>T	c.(1051-1053)gaA>gaT	p.E351D	NTRK3_ENST00000357724.2_Missense_Mutation_p.E351D|NTRK3_ENST00000355254.2_Missense_Mutation_p.E351D|NTRK3_ENST00000540489.2_Missense_Mutation_p.E351D|NTRK3_ENST00000557856.1_Missense_Mutation_p.E351D|NTRK3_ENST00000317501.3_Missense_Mutation_p.E351D|NTRK3_ENST00000558676.1_Missense_Mutation_p.E351D|NTRK3_ENST00000542733.2_Missense_Mutation_p.E253D|NTRK3_ENST00000394480.2_Missense_Mutation_p.E351D	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	351	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E351D(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGGTAGTATTCCACATGGA	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1051-1053)GAA>GAT		neurotrophic tyrosine kinase, receptor, type 3							177.0	167.0	170.0					15																	88678483		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678483T>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1053A>T	15.37:g.88678483T>A	ENSP00000354207:p.Glu351Asp	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.E351D|NTRK3_uc002bmf.1_Missense_Mutation_p.E351D|NTRK3_uc010upl.1_Missense_Mutation_p.E253D|NTRK3_uc010bnh.1_Missense_Mutation_p.E351D|NTRK3_uc002bmg.2_Missense_Mutation_p.E351D	p.E351D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1215	-			351			Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1053A>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550808	0.45383	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.28	-0.212	0.13169	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.146393	0.64402	N	0.000011	T	0.52948	0.1766	L	0.46670	1.46	0.44098	D	0.996869	B;B;B;B;B;B	0.21606	0.001;0.058;0.022;0.0;0.02;0.004	B;B;B;B;B;B	0.26614	0.005;0.055;0.071;0.005;0.016;0.049	T	0.31530	-0.9940	10	0.35671	T	0.21	.	6.1638	0.20378	0.0:0.4951:0.2762:0.2287	.	253;351;351;351;351;351	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	D	351;351;351;351;253;351;351	ENSP00000377990:E351D;ENSP00000354207:E351D;ENSP00000350356:E351D;ENSP00000347397:E351D;ENSP00000437773:E253D;ENSP00000444673:E351D;ENSP00000318328:E351D	ENSP00000318328:E351D	E	-	3	2	NTRK3	86479487	0.629000	0.27146	0.990000	0.47175	0.967000	0.64934	-0.197000	0.09518	-0.057000	0.13199	-0.468000	0.05107	GAA		PASS	0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				19	73	19	73	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3142733	3142733	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:3142733C>A	ENST00000252463.2	-	1	128	c.41G>T	c.(40-42)tGc>tTc	p.C14F	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.C14F|ZSCAN10_ENST00000538082.2_Silent_p.L21L	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	14	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C14F(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCAGTGGCCGCAGAGCTCCCG	0.662																																						uc002ctv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)TGC>TTC		zinc finger and SCAN domain containing 10							12.0	15.0	14.0					16																	3142733		2173	4253	6426	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3142733C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.41G>T	16.37:g.3142733C>A	ENSP00000252463:p.Cys14Phe					ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Silent_p.L21L|ZSCAN10_uc002ctx.1_5'UTR	p.C14F	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			1	129	-			14			SCAN box.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.41G>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533741	0.45073	.	.	ENSG00000130182	ENST00000252463	T	0.07216	3.21	5.39	5.39	0.77823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000038	T	0.34106	0.0886	M	0.86343	2.81	0.46437	D	0.999043	D	0.89917	1.0	D	0.91635	0.999	T	0.16070	-1.0415	10	0.87932	D	0	-37.1522	14.6603	0.68865	0.0:1.0:0.0:0.0	.	14	Q96SZ4	ZSC10_HUMAN	F	14	ENSP00000252463:C14F	ENSP00000252463:C14F	C	-	2	0	ZSCAN10	3082734	0.037000	0.19845	0.442000	0.26870	0.380000	0.30137	1.393000	0.34497	2.532000	0.85374	0.555000	0.69702	TGC		PASS	0.662	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		9	4	9	4	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3304583	3304583	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:3304583C>G	ENST00000219596.1	-	2	524	c.485G>C	c.(484-486)aGa>aCa	p.R162T	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	162					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R162T(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCTTCTCTCTGCGTTTGCT	0.761																																						uc002cun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(484-486)AGA>ACA		Mediterranean fever protein	Colchicine(DB01394)						8.0	8.0	8.0					16																	3304583		2165	4225	6390	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304583C>G	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.485G>C	16.37:g.3304583C>G	ENSP00000219596:p.Arg162Thr						p.R162T	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	525	-			162					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.485G>C	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974574	0.53720	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70986	-0.53	4.15	1.71	0.24356	.	0.242887	0.29699	N	0.011432	T	0.63616	0.2526	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.54544	0.755	T	0.55231	-0.8173	10	0.87932	D	0	-15.7524	5.4735	0.16682	0.0:0.6802:0.0:0.3198	.	162	O15553	MEFV_HUMAN	T	162	ENSP00000219596:R162T	ENSP00000219596:R162T	R	-	2	0	MEFV	3244584	0.045000	0.20229	0.062000	0.19696	0.006000	0.05464	0.233000	0.17911	0.464000	0.27142	0.563000	0.77884	AGA		PASS	0.761	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		5	2	5	2	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778059	3778059	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:3778059A>C	ENST00000262367.5	-	31	7798	c.6989T>G	c.(6988-6990)cTc>cGc	p.L2330R	CREBBP_ENST00000382070.3_Missense_Mutation_p.L2292R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2330					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L2330R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGGCCAGGGAGATGCGAGGC	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(6988-6990)CTC>CGC		CREB binding protein isoform a							85.0	85.0	85.0					16																	3778059		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778059A>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6989T>G	16.37:g.3778059A>C	ENSP00000262367:p.Leu2330Arg					CREBBP_uc002cvw.2_Missense_Mutation_p.L2292R	p.L2330R	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7193	-		Ovarian(90;0.0266)	2330					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6989T>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	11.12	1.544987	0.27652	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.85629	-1.98;-2.01	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	D	0.89663	0.6780	M	0.66939	2.045	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.59889	0.865;0.865	D	0.90648	0.4580	10	0.72032	D	0.01	-21.1137	13.3783	0.60752	1.0:0.0:0.0:0.0	.	2360;2330	Q4LE28;Q92793	.;CBP_HUMAN	R	2330;2360;2292;865	ENSP00000262367:L2330R;ENSP00000371502:L2292R	ENSP00000262367:L2330R	L	-	2	0	CREBBP	3718060	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.583000	0.90794	2.156000	0.67533	0.533000	0.62120	CTC		PASS	0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		31	16	31	16	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14960470	14960470	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:14960470G>T	ENST00000287667.7	+	15	1899	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	576						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.L576L(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGAAGTGCTGGAGGATGACA	0.507																																						uc002dcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1726-1728)CTG>CTT		nodal modulator 1 precursor							258.0	246.0	250.0					16																	14960470		2190	4299	6489	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14960470G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1728G>T	16.37:g.14960470G>T							p.L576L	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			15	1794	+			576			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.1728G>T	CCDS10556.1																																																																																				PASS	0.507	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			6	111	6	111	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27497327	27497327	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:27497327G>T	ENST00000356183.4	-	24	3864	c.3849C>A	c.(3847-3849)ctC>ctA	p.L1283L	GTF3C1_ENST00000561623.1_Silent_p.L1283L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1283					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.L1283L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTTGGTGTTGAGGACATTGC	0.642																																						uc002dov.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3847-3849)CTC>CTA		general transcription factor IIIC, polypeptide							107.0	85.0	93.0					16																	27497327		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27497327G>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3849C>A	16.37:g.27497327G>T						GTF3C1_uc002dou.2_Silent_p.L1283L	p.L1283L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			24	3889	-			1283					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.3849C>A	CCDS32414.1																																																																																				PASS	0.642	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	75	5	75	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29819136	29819136	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:29819136A>T	ENST00000322945.6	+	2	1195	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	MAZ_ENST00000219782.6_Nonsense_Mutation_p.K344*|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568544.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Nonsense_Mutation_p.K321*|MAZ_ENST00000568282.1_5'Flank|AC009133.14_ENST00000563806.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	344					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K344*(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCACTGTGGCAAGAGCTTCTC	0.697																																					Colon(72;875 1167 15364 30899 37091)	uc002dty.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1030-1032)AAG>TAG		MYC-associated zinc finger protein isoform 1							24.0	27.0	26.0					16																	29819136		2064	4174	6238	SO:0001587	stop_gained	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29819136A>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1030A>T	16.37:g.29819136A>T	ENSP00000313362:p.Lys344*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Nonsense_Mutation_p.K321*|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Nonsense_Mutation_p.K344*|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Nonsense_Mutation_p.K62*|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	p.K344*	NM_002383	NP_002374	P56270	MAZ_HUMAN			2	1198	+			344			C2H2-type 4.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Nonsense_Mutation	SNP	ENST00000322945.6	37	c.1030A>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	A	36	5.718736	0.96839	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	.	.	.	2.96	2.96	0.34315	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3497	9.6909	0.40127	1.0:0.0:0.0:0.0	.	.	.	.	X	321;344;344;119	.	ENSP00000219782:K344X	K	+	1	0	MAZ	29726637	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.955000	0.70306	1.317000	0.45149	0.358000	0.22013	AAG		PASS	0.697	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		17	15	17	15	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926601	31926601	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:31926601C>A	ENST00000300870.10	+	4	1240	c.1031C>A	c.(1030-1032)cCt>cAt	p.P344H		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	344					multicellular organismal development (GO:0007275)|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.P344H(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAGATCATTCCTACCGAAGAG	0.363																																						uc002ecs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1030-1032)CCT>CAT		zinc finger protein 267							114.0	119.0	117.0					16																	31926601		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926601C>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1031C>A	16.37:g.31926601C>A	ENSP00000300870:p.Pro344His						p.P344H	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1240	+			344					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1031C>A	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	0.645	-0.811764	0.02798	.	.	ENSG00000185947	ENST00000300870	T	0.05996	3.36	0.458	-0.916	0.10489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	N	0.00019	-2.795	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45673	-0.9245	9	0.02654	T	1	.	4.3538	0.11169	0.6391:0.3608:0.0:0.0	.	344	Q14586	ZN267_HUMAN	H	344	ENSP00000300870:P344H	ENSP00000300870:P344H	P	+	2	0	ZNF267	31834102	1.000000	0.71417	0.005000	0.12908	0.004000	0.04260	4.483000	0.60264	-0.504000	0.06577	-0.516000	0.04426	CCT		PASS	0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		7	176	7	176	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927618	31927618	+	Missense_Mutation	SNP	C	C	G	rs377520313		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:31927618C>G	ENST00000300870.10	+	4	2257	c.2048C>G	c.(2047-2049)aCt>aGt	p.T683S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	683					multicellular organismal development (GO:0007275)|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.T683S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGACATACTGGAGAGAGA	0.453																																						uc002ecs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2047-2049)ACT>AGT		zinc finger protein 267		C	SER/THR	0,4394		0,0,2197	110.0	98.0	102.0		2048	0.5	0.8	16		102	1,8599		0,1,4299	yes	missense	ZNF267	NM_003414.4	58	0,1,6496	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	683/744	31927618	1,12993	2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927618C>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2048C>G	16.37:g.31927618C>G	ENSP00000300870:p.Thr683Ser						p.T683S	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2257	+			683					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2048C>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	19.12	3.766062	0.69878	0.0	1.16E-4	ENSG00000185947	ENST00000300870	T	0.24151	1.87	0.468	0.468	0.16732	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25082	0.0609	N	0.16130	0.375	0.80722	D	1	D	0.54964	0.969	D	0.63381	0.914	T	0.08391	-1.0724	9	0.52906	T	0.07	.	6.7127	0.23286	0.0:0.9999:0.0:1.0E-4	.	683	Q14586	ZN267_HUMAN	S	683	ENSP00000300870:T683S	ENSP00000300870:T683S	T	+	2	0	ZNF267	31835119	0.893000	0.30496	0.813000	0.32504	0.803000	0.45373	2.067000	0.41461	0.488000	0.27723	0.491000	0.48974	ACT		PASS	0.453	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		64	51	64	51	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53279391	53279391	+	Splice_Site	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:53279391G>T	ENST00000398510.3	+	13	3285	c.3198G>T	c.(3196-3198)caG>caT	p.Q1066H	CHD9_ENST00000564845.1_Splice_Site_p.Q1066H|CHD9_ENST00000447540.1_Splice_Site_p.Q1066H|CHD9_ENST00000566029.1_Splice_Site_p.Q1066H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1066					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q1066H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAGGAACAGGTATCCTATT	0.303																																						uc002ehb.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(3196-3198)CAG>CAT		chromodomain helicase DNA binding protein 9							70.0	64.0	65.0					16																	53279391		1828	4084	5912	SO:0001630	splice_region_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279391G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3198+1G>T	16.37:g.53279391G>T						CHD9_uc002egy.2_Missense_Mutation_p.Q1066H|CHD9_uc002eha.1_Missense_Mutation_p.Q1066H|CHD9_uc002ehc.2_Missense_Mutation_p.Q1066H|CHD9_uc002ehf.2_Missense_Mutation_p.Q180H|CHD9_uc002ehd.2_Missense_Mutation_p.Q592H|CHD9_uc002ehe.1_Missense_Mutation_p.Q180H	p.Q1066H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			13	3362	+		all_cancers(37;0.0212)	1066					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3198G>T		.	.	.	.	.	.	.	.	.	.	G	24.5	4.533839	0.85812	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.93426	-3.22;-3.22	5.36	5.36	0.76844	SNF2-related (1);	0.000000	0.52532	D	0.000074	D	0.97099	0.9052	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.85130	0.997;0.997;0.996;0.994	D	0.97148	0.9829	10	0.59425	D	0.04	-8.7882	19.4611	0.94918	0.0:0.0:1.0:0.0	.	592;1066;1066;1066	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	1066;1066;592	ENSP00000396345:Q1066H;ENSP00000381522:Q1066H	ENSP00000219084:Q592H	Q	+	3	2	CHD9	51836892	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.941000	0.87700	2.657000	0.90304	0.655000	0.94253	CAG		PASS	0.303	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	Missense_Mutation	4	33	4	33	---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53726041	53726041	+	Missense_Mutation	SNP	G	G	T	rs527539036		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:53726041G>T	ENST00000379925.3	-	4	516	c.466C>A	c.(466-468)Cgt>Agt	p.R156S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R156S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R156S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R156S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	156					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R156S(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTGTTAATACGAGATTGTACA	0.378																																						uc002ehp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)CGT>AGT		RPGRIP1-like isoform a							272.0	252.0	259.0					16																	53726041		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53726041G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.466C>A	16.37:g.53726041G>T	ENSP00000369257:p.Arg156Ser					RPGRIP1L_uc002eho.3_Missense_Mutation_p.R156S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R156S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R156S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R156S|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R156S	p.R156S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			4	530	-		all_cancers(37;0.0973)	156					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.466C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071468	0.55646	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.83992	-1.79;-1.79	5.83	5.83	0.93111	.	0.163424	0.56097	D	0.000031	D	0.90448	0.7009	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.97110	0.99;0.99;0.814;1.0	D	0.90141	0.4213	10	0.51188	T	0.08	-10.2242	15.2407	0.73468	0.0687:0.0:0.9313:0.0	.	156;156;156;156	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	156	ENSP00000369257:R156S;ENSP00000262135:R156S	ENSP00000262135:R156S	R	-	1	0	RPGRIP1L	52283542	1.000000	0.71417	0.969000	0.41365	0.731000	0.41821	5.709000	0.68384	2.763000	0.94921	0.563000	0.77884	CGT		PASS	0.378	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		4	107	4	107	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57059801	57059801	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:57059801A>G	ENST00000262510.6	+	6	1171	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	NLRC5_ENST00000436936.1_Missense_Mutation_p.M316V|NLRC5_ENST00000539144.1_Missense_Mutation_p.M316V|NLRC5_ENST00000308149.7_Missense_Mutation_p.M316V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	316	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.M316V(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCCAGCCTATGGGTCCTGA	0.602																																						uc002ekk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.(946-948)ATG>GTG		nucleotide-binding oligomerization domains 27							87.0	86.0	86.0					16																	57059801		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57059801A>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.946A>G	16.37:g.57059801A>G	ENSP00000262510:p.Met316Val					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.M121V|NLRC5_uc002ekl.2_Missense_Mutation_p.M121V|NLRC5_uc002ekm.2_Missense_Mutation_p.M121V|NLRC5_uc010ccr.1_RNA	p.M316V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1171	+		all_neural(199;0.225)	316			NACHT.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.946A>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.012|0.012	-1.686688|-1.686688	0.00738|0.00738	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14|.	4.85|4.85	-4.87|-4.87	0.03123|0.03123	NACHT nucleoside triphosphatase (1);|.	6.094760|.	0.00508|.	N|.	0.000161|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.14012|.	0.008;0.006;0.004;0.009|.	B;B;B;B|.	0.15484|.	0.009;0.013;0.002;0.007|.	T|T	0.35500|0.35500	-0.9786|-0.9786	10|5	0.21014|.	T|.	0.42|.	.|.	8.4904|8.4904	0.33098|0.33098	0.227:0.4637:0.3093:0.0|0.227:0.4637:0.3093:0.0	.|.	316;316;316;316|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	V|C	316|68	ENSP00000262510:M316V;ENSP00000308886:M316V;ENSP00000389739:M316V;ENSP00000441727:M316V|.	ENSP00000262510:M316V|.	M|Y	+|+	1|2	0|0	NLRC5|NLRC5	55617302|55617302	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.556000|-0.556000	0.05992|0.05992	-0.149000|-0.149000	0.11215|0.11215	-0.337000|-0.337000	0.08149|0.08149	ATG|TAT		PASS	0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		19	23	19	23	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70190383	70190383	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:70190383G>T	ENST00000288050.4	+	19	3198	c.2241G>T	c.(2239-2241)atG>atT	p.M747I	PDPR_ENST00000398122.3_Missense_Mutation_p.M647I|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.M105I|PDPR_ENST00000568530.1_Missense_Mutation_p.M747I|PDPR_ENST00000542659.1_Missense_Mutation_p.M92I|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	747					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.M747I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTTAGGGCATGGATTTCATTG	0.552																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2239-2241)ATG>ATT		pyruvate dehydrogenase phosphatase regulatory							100.0	110.0	107.0					16																	70190383		2081	4222	6303	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190383G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2241G>T	16.37:g.70190383G>T	ENSP00000288050:p.Met747Ile					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.M647I|PDPR_uc002eyg.1_Missense_Mutation_p.M414I|PDPR_uc002eyh.2_Missense_Mutation_p.M92I|PDPR_uc010vls.1_Missense_Mutation_p.M92I	p.M747I	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3198	+			747					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2241G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847923	0.51164	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;D	0.91124	-0.34;-0.28;-2.79	6.03	3.96	0.45880	.	0.542597	0.22449	N	0.059918	T	0.61899	0.2384	N	0.00146	-1.995	0.33703	D	0.614765	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.63892	-0.6534	10	0.14656	T	0.56	.	5.3673	0.16121	0.0769:0.142:0.6343:0.1467	.	414;747	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	I	747;647;414;92	ENSP00000288050:M747I;ENSP00000381190:M647I;ENSP00000441690:M92I	ENSP00000205055:M414I	M	+	3	0	PDPR	68747884	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.241000	0.18065	1.535000	0.49220	0.557000	0.71058	ATG		PASS	0.552	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		24	124	24	124	---	---	---	---
COG4	25839	broad.mit.edu	37	16	70543256	70543256	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:70543256C>A	ENST00000323786.5	-	7	901	c.880G>T	c.(880-882)Gtg>Ttg	p.V294L	COG4_ENST00000393612.4_Missense_Mutation_p.V290L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	290					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.V294L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGGTCTCCACTATTGGCTGG	0.463																																						uc002ezc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)GTG>TTG		component of oligomeric golgi complex 4							115.0	109.0	111.0					16																	70543256		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70543256C>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.880G>T	16.37:g.70543256C>A	ENSP00000315775:p.Val294Leu					COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.V294L|COG4_uc002eze.2_5'UTR	p.V294L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			7	891	-		Ovarian(137;0.0694)	290					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.880G>T	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752163	0.69533	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.56611	0.51;0.45	5.76	5.76	0.90799	Conserved oligomeric Golgi complex, subunit 4 (2);	0.053363	0.85682	D	0.000000	T	0.48537	0.1505	L	0.42632	1.34	0.80722	D	1	B;B	0.19817	0.039;0.039	B;B	0.25140	0.058;0.058	T	0.43637	-0.9379	10	0.59425	D	0.04	-18.1442	14.7614	0.69610	0.1444:0.8555:0.0:0.0	.	289;290	Q6PIW8;Q9H9E3	.;COG4_HUMAN	L	294;290;290	ENSP00000315775:V294L;ENSP00000377236:V290L	ENSP00000315775:V294L	V	-	1	0	COG4	69100757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.643000	0.67895	2.726000	0.93360	0.655000	0.94253	GTG		PASS	0.463	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			15	19	15	19	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72170400	72170400	+	Missense_Mutation	SNP	C	C	G	rs149950926	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:72170400C>G	ENST00000237353.10	-	9	1411	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E384Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E239Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	384						cytoplasm (GO:0005737)		p.E384Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGCAGCTCCTGCAGCCGG	0.557													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		20513	0.0		0.0	False		,,,				2504	0.0					uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1150-1152)GAG>CAG		polyamine modulated factor 1 binding protein 1		C	GLN/GLU,GLN/GLU	17,4379	23.3+/-48.9	0,17,2181	122.0	115.0	117.0		715,1150	3.1	1.0	16	dbSNP_134	117	0,8600		0,0,4300	no	missense,missense	PMFBP1	NM_001160213.1,NM_031293.2	29,29	0,17,6481	GG,GC,CC		0.0,0.3867,0.1308	possibly-damaging,possibly-damaging	239/883,384/1008	72170400	17,12979	2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170400C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1150G>C	16.37:g.72170400C>G	ENSP00000237353:p.Glu384Gln					PMFBP1_uc002fcd.2_Missense_Mutation_p.E384Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E239Q	p.E384Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			9	1322	-		Ovarian(137;0.179)	384			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1150G>C	CCDS32483.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	18.81	3.703967	0.68501	0.003867	0.0	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.12361	2.7;2.7;2.69	5.21	3.06	0.35304	.	0.174068	0.27891	N	0.017440	T	0.06645	0.0170	L	0.32530	0.975	0.24338	N	0.994976	P;B;B	0.34662	0.462;0.301;0.301	B;B;B	0.34489	0.184;0.184;0.184	T	0.15780	-1.0425	10	0.45353	T	0.12	-11.6506	7.2403	0.26092	0.0:0.6452:0.2603:0.0945	.	384;384;384	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	384;384;239	ENSP00000443817:E384Q;ENSP00000237353:E384Q;ENSP00000347854:E239Q	ENSP00000237353:E384Q	E	-	1	0	PMFBP1	70727901	1.000000	0.71417	0.998000	0.56505	0.178000	0.23041	1.251000	0.32862	2.412000	0.81896	0.563000	0.77884	GAG		PASS	0.557	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		10	30	10	30	---	---	---	---
BCO1	53630	broad.mit.edu	37	16	81298358	81298358	+	Missense_Mutation	SNP	G	G	T	rs145899743		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:81298358G>T	ENST00000258168.2	+	5	1046	c.585G>T	c.(583-585)aaG>aaT	p.K195N	BCMO1_ENST00000425577.2_Missense_Mutation_p.K126N	NM_017429.2	NP_059125.2												p.K195N(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GGAAGACAAAGTATGTGATTT	0.443																																						uc002fgn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)AAG>AAT		beta-carotene 15,15'-monooxygenase							118.0	97.0	104.0					16																	81298358		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298358G>T																												ENST00000258168.2:c.585G>T	16.37:g.81298358G>T	ENSP00000258168:p.Lys195Asn					BCMO1_uc010vnp.1_Missense_Mutation_p.K126N	p.K195N	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			5	803	+			195						Missense_Mutation	SNP	ENST00000258168.2	37	c.585G>T	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736696	0.49045	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94897	-3.55;-3.55	5.0	-1.84	0.07809	.	0.316131	0.38272	N	0.001759	D	0.95137	0.8424	M	0.77820	2.39	0.42406	D	0.992582	D;D	0.67145	0.996;0.992	D;D	0.70935	0.971;0.943	D	0.90941	0.4797	10	0.25751	T	0.34	-11.3109	6.2363	0.20764	0.6054:0.1213:0.2734:0.0	.	126;195	E7EM88;Q9HAY6	.;BCDO1_HUMAN	N	195;126	ENSP00000258168:K195N;ENSP00000400586:K126N	ENSP00000258168:K195N	K	+	3	2	BCMO1	79855859	0.994000	0.37717	0.956000	0.39512	0.890000	0.51754	0.587000	0.23909	-0.678000	0.05224	-1.349000	0.01238	AAG		PASS	0.443	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			20	22	20	22	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81819732	81819732	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:81819732C>T	ENST00000359376.3	+	2	352	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	46	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.I46I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAGGTGATCATGGAGACGC	0.627																																						uc002fgt.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(136-138)ATC>ATT		phospholipase C, gamma 2							49.0	57.0	54.0					16																	81819732		2077	4204	6281	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81819732C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.138C>T	16.37:g.81819732C>T						PLCG2_uc010chg.1_Silent_p.I46I	p.I46I	NM_002661	NP_002652	P16885	PLCG2_HUMAN			2	290	+			46			PH.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.138C>T	CCDS42204.1																																																																																				PASS	0.627	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			13	13	13	13	---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1687711	1687711	+	Silent	SNP	G	G	A	rs144396164		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:1687711G>A	ENST00000305513.7	-	8	2096	c.1929C>T	c.(1927-1929)tcC>tcT	p.S643S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	643							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S643S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TGCTGACGGCGGATTCTGCAC	0.547											OREG0024075	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0					uc002ftm.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|kidney(2)	5						c.(1927-1929)TCC>TCT		SET and MYND domain containing 4		G		5,4401	9.9+/-24.2	0,5,2198	153.0	141.0	145.0		1929	-10.1	0.0	17	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	SMYD4	NM_052928.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		643/805	1687711	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1687711G>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1929C>T	17.37:g.1687711G>A			OREG0024075	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	597	SMYD4_uc002ftn.1_Silent_p.S498S	p.S643S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			8	2097	-			643					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.1929C>T	CCDS11013.1																																																																																				PASS	0.547	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		21	35	21	35	---	---	---	---
UBE2G1	7326	broad.mit.edu	37	17	4192629	4192629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:4192629C>A	ENST00000396981.2	-	4	487	c.322G>T	c.(322-324)Gag>Tag	p.E108*	UBE2G1_ENST00000572484.1_Nonsense_Mutation_p.E37*	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	108					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.E108*(1)		large_intestine(2)|lung(4)|skin(1)	7						CAGCGTTCCTCTGGCTTTTCA	0.428																																						uc002fxs.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(322-324)GAG>TAG		ubiquitin-conjugating enzyme E2G 1							161.0	143.0	149.0					17																	4192629		2203	4300	6503	SO:0001587	stop_gained	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4192629C>A	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.322G>T	17.37:g.4192629C>A	ENSP00000380178:p.Glu108*						p.E108*	NM_003342	NP_003333	P62253	UB2G1_HUMAN			4	680	-			108					B2R7P2|D3DTK0|Q99462	Nonsense_Mutation	SNP	ENST00000396981.2	37	c.322G>T	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821632	0.96989	.	.	ENSG00000132388	ENST00000396981	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.3214	18.7467	0.91795	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000380178:E108X	E	-	1	0	UBE2G1	4139378	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	GAG		PASS	0.428	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		5	63	5	63	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5086471	5086471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:5086471C>A	ENST00000399604.4	-	1	1221	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.E361*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	361					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.E361*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTAAGCTCCTCATCCTTGCTG	0.453																																						uc010cla.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1081-1083)GAG>TAG		zinc finger protein 594							263.0	255.0	257.0					17																	5086471		1980	4189	6169	SO:0001587	stop_gained	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086471C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1081G>T	17.37:g.5086471C>A	ENSP00000382513:p.Glu361*						p.E361*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1237	-			361			C2H2-type 9; degenerate.		Q6RFS0	Nonsense_Mutation	SNP	ENST00000399604.4	37	c.1081G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808637	0.70797	.	.	ENSG00000180626	ENST00000399604	.	.	.	0.627	-0.832	0.10785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.2013	0.15267	0.3518:0.6482:0.0:0.0	.	.	.	.	X	361	.	ENSP00000382513:E361X	E	-	1	0	ZNF594	5027195	0.000000	0.05858	0.000000	0.03702	0.459000	0.32528	-0.396000	0.07278	-0.343000	0.08351	0.313000	0.20887	GAG		PASS	0.453	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		6	149	6	149	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577505	7577506	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:7577505_7577506TC>AA	ENST00000269305.4	-	7	964_965	c.775_776GA>TT	c.(775-777)GAc>TTc	p.D259F	TP53_ENST00000413465.2_Missense_Mutation_p.D259F|TP53_ENST00000359597.4_Missense_Mutation_p.D259F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.D259F|TP53_ENST00000455263.2_Missense_Mutation_p.D259F|TP53_ENST00000445888.2_Missense_Mutation_p.D259F	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	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.D259Y(21)|p.D259V(18)|p.0?(8)|p.D259N(6)|p.D259G(4)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)	TGACCTGGAGTCTTCCAGTGTG	0.584		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		73	Substitution - Missense(54)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(3)|Deletion - In frame(1)|Unknown(1)	p.D259Y(19)|p.D259V(13)|p.0?(7)|p.D259N(6)|p.D259fs*86(4)|p.D259G(4)|p.D259fs*5(3)|p.D259E(3)|p.D259D(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(1)	lung(13)|ovary(12)|large_intestine(8)|oesophagus(6)|upper_aerodigestive_tract(5)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|skin(3)|liver(2)|breast(2)|thyroid(1)|soft_tissue(1)|cervix(1)|eye(1)|pancreas(1)|autonomic_ganglia(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						c.(775-777)GAC>GTC|c.(775-777)GAC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	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.chr17:7577505T>A|g.chr17:7577506C>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.775_776delinsAA	17.37:g.7577505_7577506delinsAA	ENSP00000269305:p.Asp259Phe	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_Missense_Mutation_p.D259V|TP53_uc002gih.2_Missense_Mutation_p.D259V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127V|TP53_uc010cng.1_Missense_Mutation_p.D127V|TP53_uc002gii.1_Missense_Mutation_p.D127V|TP53_uc010cnh.1_Missense_Mutation_p.D259V|TP53_uc010cni.1_Missense_Mutation_p.D259V|TP53_uc002gij.2_Missense_Mutation_p.D259V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D166V|TP53_uc002gio.2_Missense_Mutation_p.D127V|TP53_uc002gig.1_Missense_Mutation_p.D259Y|TP53_uc002gih.2_Missense_Mutation_p.D259Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127Y|TP53_uc010cng.1_Missense_Mutation_p.D127Y|TP53_uc002gii.1_Missense_Mutation_p.D127Y|TP53_uc010cnh.1_Missense_Mutation_p.D259Y|TP53_uc010cni.1_Missense_Mutation_p.D259Y|TP53_uc002gij.2_Missense_Mutation_p.D259Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D166Y|TP53_uc002gio.2_Missense_Mutation_p.D127Y	p.D259V|p.D259Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	970|969	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	259		D -> Y (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.776A>T|c.775G>T	CCDS11118.1																																																																																				PASS	0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	12	8	12	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18196077	18196077	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:18196077C>T	ENST00000321105.5	-	11	1377	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	TOP3A_ENST00000542570.1_Missense_Mutation_p.R293H|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	388					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.R388H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGCCCCCCAGCGTGGATCGGG	0.547																																						uc002gsx.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1162-1164)CGC>CAC		topoisomerase (DNA) III alpha							118.0	111.0	113.0					17																	18196077		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18196077C>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1163G>A	17.37:g.18196077C>T	ENSP00000321636:p.Arg388His					TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.R286H	p.R388H	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			11	1392	-			388					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1163G>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541586	0.27563	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.22539	1.95;1.95	5.37	-1.6	0.08426	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.851521	0.11058	N	0.604232	T	0.18087	0.0434	L	0.58101	1.795	0.09310	N	0.999998	B;B	0.17038	0.009;0.02	B;B	0.13407	0.005;0.009	T	0.40251	-0.9573	10	0.13108	T	0.6	-9.0808	10.737	0.46130	0.0:0.3042:0.0:0.6958	.	293;388	B4DK80;Q13472	.;TOP3A_HUMAN	H	388;293	ENSP00000321636:R388H;ENSP00000442336:R293H	ENSP00000321636:R388H	R	-	2	0	TOP3A	18136802	0.026000	0.19158	0.984000	0.44739	0.831000	0.47069	0.019000	0.13444	-0.096000	0.12329	-0.471000	0.05019	CGC		PASS	0.547	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			27	26	27	26	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40332908	40332909	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:40332908_40332909GC>TT	ENST00000264661.3	-	1	387_388	c.55_56GC>AA	c.(55-57)GCc>AAc	p.A19N	KCNH4_ENST00000607371.1_Missense_Mutation_p.A19N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	19	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A19D(1)|p.A19N(1)|p.A19T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAAACGGGTGGCGATGGTGTCC	0.658																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(55-57)GCC>GAC|c.(55-57)GCC>ACC		potassium voltage-gated channel, subfamily H,																																				SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40332908G>T|g.chr17:40332909C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.55_56delinsTT	17.37:g.40332908_40332909delinsTT	ENSP00000264661:p.Ala19Asn						p.A19D|p.A19T	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	1	389|388	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	19			Cytoplasmic (Potential).|PAS.			Missense_Mutation	SNP	ENST00000264661.3	37	c.56C>A|c.55G>A	CCDS11420.1																																																																																				PASS	0.658	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		24|25	96|94	24	94	---	---	---	---
PTRF	284119	broad.mit.edu	37	17	40575028	40575028	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:40575028G>C	ENST00000357037.5	-	1	507	c.88C>G	c.(88-90)Cag>Gag	p.Q30E		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.Q30E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCGCTGCCTGAGCCCCAGCG	0.677																																						uc002hzo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(88-90)CAG>GAG		polymerase I and transcript release factor							12.0	13.0	13.0					17																	40575028		2176	4240	6416	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40575028G>C	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.88C>G	17.37:g.40575028G>C	ENSP00000349541:p.Gln30Glu					PTRF_uc010wgi.1_Missense_Mutation_p.Q30E	p.Q30E	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	1	247	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	30						Missense_Mutation	SNP	ENST00000357037.5	37	c.88C>G	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.117434	0.01799	.	.	ENSG00000177469	ENST00000357037	T	0.57907	0.37	5.13	5.13	0.70059	.	0.676716	0.14720	N	0.302363	T	0.29976	0.0750	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.04767	-1.0928	10	0.02654	T	1	-13.0713	14.0737	0.64877	0.0:0.0:1.0:0.0	.	30;30	B4DNU9;Q6NZI2	.;PTRF_HUMAN	E	30	ENSP00000349541:Q30E	ENSP00000349541:Q30E	Q	-	1	0	PTRF	37828554	0.985000	0.35326	0.107000	0.21349	0.062000	0.15995	5.184000	0.65070	2.373000	0.80994	0.561000	0.74099	CAG		PASS	0.677	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		9	13	9	13	---	---	---	---
PTRF	284119	broad.mit.edu	37	17	40575045	40575045	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:40575045G>A	ENST00000357037.5	-	1	490	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.P24L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGCGGAGGAAGGCTCCGGGGC	0.711																																						uc002hzo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(70-72)CCT>CTT		polymerase I and transcript release factor							11.0	12.0	11.0					17																	40575045		2141	4178	6319	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40575045G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.71C>T	17.37:g.40575045G>A	ENSP00000349541:p.Pro24Leu					PTRF_uc010wgi.1_Missense_Mutation_p.P24L	p.P24L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	1	230	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	24						Missense_Mutation	SNP	ENST00000357037.5	37	c.71C>T	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738724	0.15642	.	.	ENSG00000177469	ENST00000357037	T	0.59083	0.29	4.61	3.63	0.41609	.	0.452282	0.20386	N	0.093348	T	0.48978	0.1530	L	0.42245	1.32	0.39159	D	0.962367	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.42682	-0.9437	10	0.44086	T	0.13	-6.6238	11.578	0.50875	0.0951:0.0:0.9049:0.0	.	24;24	B4DNU9;Q6NZI2	.;PTRF_HUMAN	L	24	ENSP00000349541:P24L	ENSP00000349541:P24L	P	-	2	0	PTRF	37828571	0.652000	0.27349	0.532000	0.27989	0.006000	0.05464	1.664000	0.37439	0.556000	0.29098	-1.134000	0.01955	CCT		PASS	0.711	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		9	9	9	9	---	---	---	---
BECN1	8678	broad.mit.edu	37	17	40966595	40966595	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:40966595C>G	ENST00000361523.4	-	9	1059	c.927G>C	c.(925-927)caG>caC	p.Q309H	BECN1_ENST00000438274.3_Missense_Mutation_p.Q233H|BECN1_ENST00000590099.1_Missense_Mutation_p.Q309H	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	309					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.Q309H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GCAACACAGTCTGGCCCCAAG	0.493																																						uc002ibo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)CAG>CAC		beclin 1							105.0	99.0	101.0					17																	40966595		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40966595C>G	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.927G>C	17.37:g.40966595C>G	ENSP00000355231:p.Gln309His					BECN1_uc010whb.1_Missense_Mutation_p.Q222H|BECN1_uc010whc.1_Missense_Mutation_p.Q233H|BECN1_uc002ibn.2_Missense_Mutation_p.Q309H	p.Q309H	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	9	1062	-		Breast(137;0.00104)	309					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.927G>C	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860224	0.71834	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.52983	0.64;0.64	5.64	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62732	-0.6792	10	0.46703	T	0.11	.	11.5527	0.50729	0.0:0.8023:0.0:0.1977	.	233;309	E7EV84;Q14457	.;BECN1_HUMAN	H	309;233;222	ENSP00000355231:Q309H;ENSP00000416173:Q233H	ENSP00000355231:Q309H	Q	-	3	2	BECN1	38220121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.141000	0.42168	0.749000	0.32854	-0.137000	0.14449	CAG		PASS	0.493	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		15	56	15	56	---	---	---	---
RUNDC1	146923	broad.mit.edu	37	17	41143505	41143505	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:41143505G>A	ENST00000361677.1	+	5	1626	c.1614G>A	c.(1612-1614)ttG>ttA	p.L538L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	538	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.L538L(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTCAGAATTGAAGGCCTTGG	0.562																																						uc002ici.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1612-1614)TTG>TTA		RUN domain containing 1							90.0	79.0	83.0					17																	41143505		2203	4300	6503	SO:0001819	synonymous_variant	146923							g.chr17:41143505G>A	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1614G>A	17.37:g.41143505G>A						RUNDC1_uc010whi.1_Silent_p.L308L	p.L538L	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1626	+		Breast(137;0.00499)	538			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.1614G>A	CCDS11448.1																																																																																				PASS	0.562	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		9	18	9	18	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478693	42478693	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:42478693G>T	ENST00000591680.1	-	8	782	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	GPATCH8_ENST00000434000.1_Missense_Mutation_p.S173Y	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	251							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S251Y(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGAGAATTCAGATCCCAGGCC	0.502																																						uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(751-753)TCT>TAT		G patch domain containing 8							103.0	106.0	105.0					17																	42478693		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478693G>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.752C>A	17.37:g.42478693G>T	ENSP00000467556:p.Ser251Tyr					GPATCH8_uc002igv.1_Missense_Mutation_p.S173Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.S173Y	p.S251Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	816	-		Prostate(33;0.0181)	251					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.752C>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251699	0.22880	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.32988	1.43	5.65	4.64	0.57946	.	0.657644	0.14908	N	0.291457	T	0.27278	0.0669	L	0.38175	1.15	0.09310	N	1	P	0.34462	0.454	B	0.34873	0.191	T	0.20605	-1.0270	10	0.66056	D	0.02	-2.8139	12.9044	0.58143	0.0:0.1235:0.7482:0.1283	.	251	Q9UKJ3	GPTC8_HUMAN	Y	251;173	ENSP00000395016:S173Y	ENSP00000335486:S251Y	S	-	2	0	GPATCH8	39834219	0.825000	0.29262	1.000000	0.80357	0.929000	0.56500	3.549000	0.53681	2.654000	0.90174	0.557000	0.71058	TCT		PASS	0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		31	74	31	74	---	---	---	---
ACBD4	79777	broad.mit.edu	37	17	43214419	43214419	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:43214419G>C	ENST00000376955.4	+	5	625	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ACBD4_ENST00000431281.1_Missense_Mutation_p.E110Q|ACBD4_ENST00000586346.1_Missense_Mutation_p.E110Q|ACBD4_ENST00000592162.1_Missense_Mutation_p.E110Q|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Missense_Mutation_p.E110Q|ACBD4_ENST00000321854.8_Missense_Mutation_p.E110Q|ACBD4_ENST00000591859.1_Missense_Mutation_p.E110Q	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	110							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.E110Q(2)		kidney(1)|lung(3)|ovary(1)	5						TGAGGTGGCAGAGGACATGTT	0.622																																						uc002iid.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(328-330)GAG>CAG		acyl-Coenzyme A binding domain containing 4							63.0	74.0	71.0					17																	43214419		2080	4208	6288	SO:0001583	missense	79777						fatty-acyl-CoA binding	g.chr17:43214419G>C	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.328G>C	17.37:g.43214419G>C	ENSP00000366154:p.Glu110Gln					ACBD4_uc010wjj.1_Missense_Mutation_p.E110Q|ACBD4_uc002iie.2_Missense_Mutation_p.E110Q|ACBD4_uc002iif.2_Missense_Mutation_p.E110Q|ACBD4_uc002iic.2_Missense_Mutation_p.E110Q|ACBD4_uc010dae.2_Missense_Mutation_p.E32Q	p.E110Q	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			5	672	+			110					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.328G>C	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085529	0.76642	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.15834	2.39;2.68;2.68;2.4	5.66	5.66	0.87406	.	0.195013	0.43747	D	0.000524	T	0.28001	0.0690	L	0.57536	1.79	0.30967	N	0.722948	B;D;B	0.56521	0.202;0.976;0.051	B;P;B	0.52598	0.153;0.703;0.061	T	0.14090	-1.0485	10	0.40728	T	0.16	.	12.9207	0.58230	0.0:0.163:0.837:0.0	.	110;110;110	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	Q	110	ENSP00000405969:E110Q;ENSP00000314440:E110Q;ENSP00000381367:E110Q;ENSP00000366154:E110Q	ENSP00000314440:E110Q	E	+	1	0	ACBD4	40569945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.441000	0.59981	2.672000	0.90937	0.555000	0.69702	GAG		PASS	0.622	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		6	19	6	19	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248240	44248240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:44248240C>A	ENST00000262419.6	-	2	1740	c.1270G>T	c.(1270-1272)Gag>Tag	p.E424*	KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E424*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E424*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E424*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E424*|KANSL1_ENST00000576248.1_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	424					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E424*(1)									TGACGCTGCTCGGGATCAGCT	0.463																																						uc002ikb.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1270-1272)GAG>TAG		hypothetical protein LOC284058							177.0	232.0	213.0					17																	44248240		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44248240C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1270G>T	17.37:g.44248240C>A	ENSP00000262419:p.Glu424*					KIAA1267_uc002ikc.2_Nonsense_Mutation_p.E424*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.E424*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.E424*	p.E424*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	1355	-		Melanoma(429;0.211)	424					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.1270G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742992	0.96873	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.21	5.21	0.72293	.	0.161692	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-5.0672	13.1423	0.59442	0.0:0.8392:0.1608:0.0	.	.	.	.	X	424	.	ENSP00000262419:E424X	E	-	1	0	KIAA1267	41604017	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.500000	0.66943	2.433000	0.82419	0.561000	0.74099	GAG		PASS	0.463	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		6	377	6	377	---	---	---	---
RSAD1	55316	broad.mit.edu	37	17	48560734	48560734	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:48560734G>A	ENST00000258955.2	+	6	1023	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	313					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.G313E(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGGGGCTGGAGGCCACACC	0.547																																						uc002iqw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GGA>GAA		radical S-adenosyl methionine domain containing							36.0	40.0	39.0					17																	48560734		2203	4300	6503	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48560734G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.938G>A	17.37:g.48560734G>A	ENSP00000258955:p.Gly313Glu					RSAD1_uc010wmq.1_RNA	p.G313E	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		6	994	+	Breast(11;1.93e-18)		313					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.938G>A	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	9.138	1.013089	0.19277	.	.	ENSG00000136444	ENST00000258955	T	0.22539	1.95	5.28	4.31	0.51392	HemN, C-terminal (1);	0.200288	0.43747	D	0.000527	T	0.15522	0.0374	L	0.41236	1.265	0.49687	D	0.999817	P	0.50066	0.931	B	0.41571	0.36	T	0.04103	-1.0977	10	0.02654	T	1	-5.853	13.7303	0.62783	0.0756:0.0:0.9244:0.0	.	313	Q9HA92	RSAD1_HUMAN	E	313	ENSP00000258955:G313E	ENSP00000258955:G313E	G	+	2	0	RSAD1	45915733	1.000000	0.71417	0.049000	0.19019	0.005000	0.04900	8.493000	0.90474	1.367000	0.46095	0.655000	0.94253	GGA		PASS	0.547	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		4	11	4	11	---	---	---	---
DGKE	8526	broad.mit.edu	37	17	54912380	54912380	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:54912380G>T	ENST00000284061.3	+	2	404	c.224G>T	c.(223-225)tGc>tTc	p.C75F	C17orf67_ENST00000575658.1_5'Flank|DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Missense_Mutation_p.C75F	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	75					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.C75F(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACCTACTGCTGCGTGTGCGCG	0.687																																						uc002iur.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(223-225)TGC>TTC		diacylglycerol kinase epsilon							41.0	45.0	43.0					17																	54912380		2203	4299	6502	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912380G>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.224G>T	17.37:g.54912380G>T	ENSP00000284061:p.Cys75Phe					DGKE_uc002ius.1_Missense_Mutation_p.C75F|C17orf67_uc002iuq.2_5'Flank	p.C75F	NM_003647	NP_003638	P52429	DGKE_HUMAN			2	404	+	Breast(9;3.59e-07)		75			Phorbol-ester/DAG-type 1.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.224G>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604557	0.66445	.	.	ENSG00000153933	ENST00000284061	D	0.92805	-3.11	5.82	4.85	0.62838	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.049828	0.85682	D	0.000000	D	0.91324	0.7264	L	0.51422	1.61	0.50813	D	0.999899	P;P	0.38745	0.645;0.645	P;P	0.49451	0.611;0.611	D	0.87778	0.2610	10	0.19590	T	0.45	.	10.271	0.43483	0.0688:0.2476:0.6836:0.0	.	75;75	A1L4Q0;P52429	.;DGKE_HUMAN	F	75	ENSP00000284061:C75F	ENSP00000284061:C75F	C	+	2	0	DGKE	52267379	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.036000	0.64164	1.447000	0.47661	0.655000	0.94253	TGC		PASS	0.687	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		7	23	7	23	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56387418	56387418	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:56387418C>T	ENST00000343736.4	-	21	3964	c.3801G>A	c.(3799-3801)gaG>gaA	p.E1267E	BZRAP1_ENST00000355701.3_Silent_p.E1267E|BZRAP1_ENST00000268893.6_Silent_p.E1207E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1267	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.E1267E(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cctcctcctcctcctcttcct	0.587																																						uc002ivx.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(3799-3801)GAG>GAA		peripheral benzodiazepine receptor-associated							89.0	79.0	82.0					17																	56387418		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387418C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3801G>A	17.37:g.56387418C>T						BZRAP1_uc010dcs.2_Silent_p.E1207E|BZRAP1_uc010wnt.1_Silent_p.E1267E	p.E1267E	NM_004758	NP_004749	O95153	RIMB1_HUMAN			21	4672	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1267			Poly-Glu.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.3801G>A	CCDS11605.1																																																																																				PASS	0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		22	59	22	59	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59155868	59155868	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:59155868G>T	ENST00000390652.5	+	22	2381	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y	BCAS3_ENST00000588462.1_Missense_Mutation_p.D784Y|BCAS3_ENST00000588874.1_Missense_Mutation_p.D540Y|BCAS3_ENST00000407086.3_Missense_Mutation_p.D769Y|BCAS3_ENST00000585744.1_Missense_Mutation_p.D555Y|BCAS3_ENST00000408905.3_Missense_Mutation_p.D769Y|BCAS3_ENST00000589222.1_Missense_Mutation_p.D769Y	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.D784Y(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATACAGATGATCTTGATCT	0.408																																						uc002iyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2350-2352)GAT>TAT		breast carcinoma amplified sequence 3 isoform 1							87.0	78.0	81.0					17																	59155868		1946	4150	6096	SO:0001583	missense	54828					nucleus		g.chr17:59155868G>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2350G>T	17.37:g.59155868G>T	ENSP00000375067:p.Asp784Tyr					BCAS3_uc002iyu.3_Missense_Mutation_p.D769Y|BCAS3_uc002iyw.3_Missense_Mutation_p.D765Y|BCAS3_uc002iyy.3_Missense_Mutation_p.D540Y|BCAS3_uc002iyz.3_Missense_Mutation_p.D338Y|BCAS3_uc002iza.3_Missense_Mutation_p.D323Y	p.D784Y	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		22	2459	+			784						Missense_Mutation	SNP	ENST00000390652.5	37	c.2350G>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436269	0.83885	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	T;T;T	0.35973	1.3;1.31;1.28	5.31	5.31	0.75309	.	0.050933	0.85682	D	0.000000	T	0.49253	0.1546	N	0.24115	0.695	0.51012	D	0.9999	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.995;1.0	D;D;D;P;D	0.85130	0.952;0.98;0.971;0.854;0.997	T	0.53330	-0.8454	10	0.72032	D	0.01	.	19.3441	0.94356	0.0:0.0:1.0:0.0	.	769;784;769;784;769	Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	Y	784;769;769	ENSP00000375067:D784Y;ENSP00000385323:D769Y;ENSP00000386173:D769Y	ENSP00000375067:D784Y	D	+	1	0	BCAS3	56510650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.771000	0.85420	2.658000	0.90341	0.585000	0.79938	GAT		PASS	0.408	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		16	30	16	30	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62034644	62034644	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:62034644G>T	ENST00000435607.1	-	13	2330	c.2254C>A	c.(2254-2256)Ctc>Atc	p.L752I	SCN4A_ENST00000578147.1_Missense_Mutation_p.L752I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	752					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L752I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGACGATGAGGAAGGAGTGG	0.577																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2254-2256)CTC>ATC		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						87.0	90.0	89.0					17																	62034644		2203	4300	6503	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034644G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2254C>A	17.37:g.62034644G>T	ENSP00000396320:p.Leu752Ile						p.L752I	NM_000334	NP_000325	P35499	SCN4A_HUMAN			13	2331	-			752			II.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2254C>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116373	0.77323	.	.	ENSG00000007314	ENST00000435607	D	0.98901	-5.22	3.91	3.91	0.45181	Ion transport (1);	0.126087	0.53938	D	0.000043	D	0.98726	0.9572	M	0.72479	2.2	0.47094	D	0.999316	D	0.59767	0.986	D	0.63113	0.911	D	0.99293	1.0899	10	0.87932	D	0	.	15.018	0.71600	0.0:0.0:1.0:0.0	.	752	P35499	SCN4A_HUMAN	I	752	ENSP00000396320:L752I	ENSP00000396320:L752I	L	-	1	0	SCN4A	59388376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.747000	0.85070	2.180000	0.69256	0.561000	0.74099	CTC		PASS	0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		5	72	5	72	---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62500359	62500359	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:62500359A>C	ENST00000225792.5	-	3	689	c.288T>G	c.(286-288)ttT>ttG	p.F96L	DDX5_ENST00000450599.2_Intron|CEP95_ENST00000556440.2_5'Flank|CEP95_ENST00000553412.1_5'Flank|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.F96L|MIR5047_ENST00000579212.1_RNA|CEP95_ENST00000581056.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	96					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.F96L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGGCTTCATAAAAATTTAGAA	0.393			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(286-288)TTT>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							131.0	136.0	134.0					17																	62500359		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500359A>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.288T>G	17.37:g.62500359A>C	ENSP00000225792:p.Phe96Leu					CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.F96L|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	p.F96L	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		3	535	-	Breast(5;2.15e-14)		96			Q motif.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.288T>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000950	0.35320	.	.	ENSG00000108654	ENST00000540698;ENST00000225792	.	.	.	5.63	0.525	0.17072	RNA helicase, DEAD-box type, Q motif (1);	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.93420	3.415	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69307	0.915;0.963	T	0.81695	-0.0816	9	0.87932	D	0	-10.9949	10.2841	0.43556	0.3768:0.0:0.6232:0.0	.	96;96	B5BUE6;P17844	.;DDX5_HUMAN	L	96;85	.	ENSP00000225792:F85L	F	-	3	2	DDX5	59930821	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	1.510000	0.35790	0.108000	0.17862	0.533000	0.62120	TTT		PASS	0.393	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		26	75	26	75	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78322000	78322000	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:78322000C>T	ENST00000582970.1	+	29	10008	c.9865C>T	c.(9865-9867)Cac>Tac	p.H3289Y	RNF213_ENST00000336301.6_Missense_Mutation_p.H1362Y|RNF213_ENST00000508628.2_Missense_Mutation_p.H3338Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3289					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H1362Y(1)|p.H3338Y(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGTACTTTCACAGACAGAG	0.597																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(4084-4086)CAC>TAC		ring finger protein 213							68.0	59.0	62.0					17																	78322000		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78322000C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9865C>T	17.37:g.78322000C>T	ENSP00000464087:p.His3289Tyr						p.H1362Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	4307	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.4084C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	8.767	0.924882	0.18056	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.16897	2.31	4.82	-9.65	0.00537	.	1.596700	0.03202	N	0.174886	T	0.07458	0.0188	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.36615	T	0.2	.	4.5728	0.12217	0.2209:0.4329:0.2246:0.1216	.	1362	Q63HN8	RN213_HUMAN	Y	3289;3338;1362	ENSP00000338218:H1362Y	ENSP00000338218:H1362Y	H	+	1	0	RNF213	75936595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.820000	0.04457	-2.724000	0.00387	-1.390000	0.01156	CAC		PASS	0.597	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		4	30	4	30	---	---	---	---
PYCR1	5831	broad.mit.edu	37	17	79891161	79891161	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:79891161C>T	ENST00000329875.8	-	7	953	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000403172.4_Missense_Mutation_p.G266R|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000337943.5_Intron|MAFG-AS1_ENST00000583492.1_RNA|PYCR1_ENST00000577756.1_3'UTR|PYCR1_ENST00000402252.2_Missense_Mutation_p.G324R	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	297			G -> R. {ECO:0000269|PubMed:22052856}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)	p.G297R(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	AGAGCGGTCCCTGCAGGGGAG	0.637																																						uc002kcr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGG>AGG		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						111.0	105.0	107.0					17																	79891161		2202	4299	6501	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79891161C>T		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.889G>A	17.37:g.79891161C>T	ENSP00000328858:p.Gly297Arg					PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Missense_Mutation_p.G324R|PYCR1_uc002kct.1_Missense_Mutation_p.G297R|PYCR1_uc002kcu.1_Missense_Mutation_p.G266R	p.G297R	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1167	-	all_neural(118;0.0878)|Ovarian(332;0.12)		297					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.889G>A	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	7.931	0.740692	0.15642	.	.	ENSG00000183010	ENST00000329875;ENST00000402252	T;T	0.74002	-0.77;-0.8	3.61	2.64	0.31445	.	0.424106	0.22940	N	0.053793	T	0.49389	0.1554	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.41752	-0.9491	10	0.66056	D	0.02	.	4.0181	0.09654	0.0:0.5529:0.2208:0.2262	.	324;297;297	B4DMU0;E7D7X9;P32322	.;.;P5CR1_HUMAN	R	297;324	ENSP00000328858:G297R;ENSP00000384949:G324R	ENSP00000328858:G297R	G	-	1	0	PYCR1	77484452	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	1.153000	0.31676	0.731000	0.32448	0.655000	0.94253	GGG		PASS	0.637	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			13	28	13	28	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80053236	80053236	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:80053236C>T	ENST00000306749.2	-	3	458	c.240G>A	c.(238-240)cgG>cgA	p.R80R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	80	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R80R(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCAGCAGCAGCCGCAGCTGAG	0.632																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(238-240)CGG>CGA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						65.0	55.0	58.0					17																	80053236		2202	4299	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80053236C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.240G>A	17.37:g.80053236C>T							p.R80R	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		3	357	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		80			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.240G>A	CCDS11801.1																																																																																				PASS	0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		11	10	11	10	---	---	---	---
OGFOD3	79701	broad.mit.edu	37	17	80369398	80369398	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr17:80369398G>A	ENST00000313056.5	-	3	464	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	OGFOD3_ENST00000329197.5_Missense_Mutation_p.P105S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.P105S(2)									CACTTTCGGGGAGTGCAGCCT	0.622																																						uc002keu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(313-315)CCC>TCC		hypothetical protein LOC79701 isoform 1							85.0	63.0	70.0					17																	80369398		2203	4300	6503	SO:0001583	missense	79701					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:80369398G>A	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.313C>T	17.37:g.80369398G>A	ENSP00000320116:p.Pro105Ser					C17orf101_uc002ket.1_Missense_Mutation_p.P105S|C17orf101_uc010dip.1_RNA	p.P105S	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN			3	414	-			105			Lumenal (Potential).		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.313C>T	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992804	0.18966	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.35973	1.76;1.28	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.64960	-0.6284	10	0.56958	D	0.05	-25.4292	15.9606	0.79928	0.0:0.0:1.0:0.0	.	105;105	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	S	105	ENSP00000320116:P105S;ENSP00000330075:P105S	ENSP00000320116:P105S	P	-	1	0	C17orf101	77962687	1.000000	0.71417	0.997000	0.53966	0.047000	0.14425	7.080000	0.76837	2.259000	0.74868	0.491000	0.48974	CCC		PASS	0.622	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		16	30	16	30	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6949175	6949175	+	Silent	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:6949175T>C	ENST00000389658.3	-	59	8574	c.8481A>G	c.(8479-8481)ggA>ggG	p.G2827G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2827	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G2827G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCAGCATGGTTCCATCTCCCA	0.483																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8479-8481)GGA>GGG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						101.0	87.0	92.0					18																	6949175		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6949175T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8481A>G	18.37:g.6949175T>C						LAMA1_uc002knk.2_Silent_p.G157G|LAMA1_uc002knl.2_Silent_p.G280G|LAMA1_uc010wzj.1_Silent_p.G2303G	p.G2827G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			59	8575	-		Colorectal(10;0.172)	2827			Laminin G-like 4.			Silent	SNP	ENST00000389658.3	37	c.8481A>G	CCDS32787.1																																																																																				PASS	0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	34	7	34	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18608740	18608740	+	Missense_Mutation	SNP	C	C	T	rs374052961		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:18608740C>T	ENST00000399799.2	-	10	2148	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	403	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R403H(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TACTTACCTACGATTGCTATA	0.308																																						uc002kte.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(1207-1209)CGT>CAT		Rho-associated, coiled-coil containing protein		C	HIS/ARG	0,4406		0,0,2203	101.0	98.0	99.0		1208	4.8	1.0	18		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROCK1	NM_005406.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	403/1355	18608740	1,13005	2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18608740C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1208G>A	18.37:g.18608740C>T	ENSP00000382697:p.Arg403His						p.R403H	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			10	2149	-	Melanoma(1;0.165)		403			Interaction with FHOD1.|AGC-kinase C-terminal.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1208G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301744	0.40694	0.0	1.16E-4	ENSG00000067900	ENST00000399799	T	0.25085	1.82	5.67	4.78	0.61160	AGC-kinase, C-terminal (1);	0.235420	0.42964	D	0.000629	T	0.11793	0.0287	N	0.05230	-0.09	0.45946	D	0.998775	B	0.12013	0.005	B	0.04013	0.001	T	0.12344	-1.0551	10	0.14656	T	0.56	.	11.0319	0.47779	0.0:0.8459:0.0:0.1541	.	403	Q13464	ROCK1_HUMAN	H	403	ENSP00000382697:R403H	ENSP00000382697:R403H	R	-	2	0	ROCK1	16862738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.587000	0.53957	1.325000	0.45301	0.655000	0.94253	CGT		PASS	0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		18	58	18	58	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22804669	22804669	+	Silent	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:22804669G>C	ENST00000361524.3	-	4	3361	c.3213C>G	c.(3211-3213)ctC>ctG	p.L1071L	ZNF521_ENST00000584787.1_Silent_p.L851L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L1071L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1071					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L1071L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAATTCTTTGAGGCAAGATG	0.522			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3211-3213)CTC>CTG		zinc finger protein 521							74.0	65.0	68.0					18																	22804669		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804669G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3213C>G	18.37:g.22804669G>C						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.L1071L|ZNF521_uc002kvl.2_Silent_p.L851L	p.L1071L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3460	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1071			C2H2-type 25; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3213C>G	CCDS32806.1																																																																																				PASS	0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		17	47	17	47	---	---	---	---
RNF125	54941	broad.mit.edu	37	18	29648306	29648306	+	Missense_Mutation	SNP	C	C	T	rs191929096		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:29648306C>T	ENST00000217740.3	+	6	1150	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	220					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R220W(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGTCTTAGACCGGTCACTTCT	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.0		0.001	False		,,,				2504	0.0					uc002kxf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CGG>TGG		ring finger protein 125							65.0	67.0	66.0					18																	29648306		2201	4300	6501	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29648306C>T	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.658C>T	18.37:g.29648306C>T	ENSP00000217740:p.Arg220Trp						p.R220W	NM_017831	NP_060301	Q96EQ8	RN125_HUMAN			6	1040	+			220					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.658C>T	CCDS11902.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.85	3.904161	0.72754	.	.	ENSG00000101695	ENST00000217740	D	0.83992	-1.79	5.89	5.89	0.94794	.	0.260386	0.27754	N	0.017982	T	0.82029	0.4948	L	0.50333	1.59	0.36322	D	0.858324	D	0.58970	0.984	P	0.45474	0.482	D	0.86968	0.2096	10	0.72032	D	0.01	-4.8588	15.7577	0.78046	0.0:1.0:0.0:0.0	.	220	Q96EQ8	RN125_HUMAN	W	220	ENSP00000217740:R220W	ENSP00000217740:R220W	R	+	1	2	RNF125	27902304	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	1.526000	0.35964	2.783000	0.95769	0.655000	0.94253	CGG		PASS	0.328	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		7	34	7	34	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40850348	40850348	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:40850348G>A	ENST00000255224.3	-	4	1604	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.P394P	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	412					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P412P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGTCTCCTGGGGTAGTCAC	0.488																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)	5						c.(1234-1236)CCC>CCT		synaptotagmin IV							181.0	185.0	184.0					18																	40850348		2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850348G>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1236C>T	18.37:g.40850348G>A						SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.P394P|SYT4_uc010dnh.2_RNA	p.P412P	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1605	-			412			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.1236C>T	CCDS11922.1																																																																																				PASS	0.488	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		64	163	64	163	---	---	---	---
ME2	4200	broad.mit.edu	37	18	48434457	48434457	+	Nonsense_Mutation	SNP	C	C	T	rs138563580		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr18:48434457C>T	ENST00000321341.5	+	3	405	c.133C>T	c.(133-135)Cga>Tga	p.R45*	ME2_ENST00000382927.3_Nonsense_Mutation_p.R45*	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	45					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.R45*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTTACAAGAACGACAAATGCT	0.338																																						uc002ley.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(133-135)CGA>TGA		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)	C	stop/ARG,stop/ARG	0,4404		0,0,2202	68.0	68.0	68.0		133,133	3.5	1.0	18	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained,stop-gained	ME2	NM_001168335.1,NM_002396.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	45/480,45/585	48434457	1,13001	2202	4299	6501	SO:0001587	stop_gained	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48434457C>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.133C>T	18.37:g.48434457C>T	ENSP00000321070:p.Arg45*					ME2_uc010dpd.2_Nonsense_Mutation_p.R45*	p.R45*	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	3	389	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	45					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Nonsense_Mutation	SNP	ENST00000321341.5	37	c.133C>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	38	6.706026	0.97776	0.0	1.16E-4	ENSG00000082212	ENST00000321341;ENST00000382927	.	.	.	5.44	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6657	13.2101	0.59819	0.3867:0.6132:0.0:0.0	.	.	.	.	X	45	.	ENSP00000321070:R45X	R	+	1	2	ME2	46688455	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.653000	0.24902	1.418000	0.47098	0.563000	0.77884	CGA		PASS	0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		15	54	15	54	---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7712063	7712063	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:7712063C>T	ENST00000221283.5	+	17	1499	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	STXBP2_ENST00000602355.1_Missense_Mutation_p.R25W|STXBP2_ENST00000414284.2_Missense_Mutation_p.R487W|STXBP2_ENST00000441779.2_Missense_Mutation_p.R501W	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	490					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.R490W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTGGAGGACCGGCTGGACAG	0.746																																						uc002mha.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1468-1470)CGG>TGG		syntaxin binding protein 2 isoform a							24.0	31.0	29.0					19																	7712063		2196	4287	6483	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7712063C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1468C>T	19.37:g.7712063C>T	ENSP00000221283:p.Arg490Trp					STXBP2_uc002mhb.3_Missense_Mutation_p.R487W|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R501W|STXBP2_uc010dvk.2_Missense_Mutation_p.R458W|STXBP2_uc002mhc.3_Missense_Mutation_p.R226W|STXBP2_uc002mhe.1_3'UTR	p.R490W	NM_006949	NP_008880	Q15833	STXB2_HUMAN			17	1513	+			490					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1468C>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742270	0.69418	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77489	-1.1;-1.1;-1.1	5.26	3.0	0.34707	.	0.059995	0.64402	D	0.000006	T	0.80824	0.4697	L	0.47190	1.495	0.45066	D	0.998083	D;D;D;D	0.76494	0.999;0.995;0.997;0.997	P;P;P;P	0.62382	0.849;0.901;0.764;0.849	T	0.81658	-0.0833	10	0.87932	D	0	-0.4808	10.3858	0.44138	0.5369:0.4631:0.0:0.0	.	501;456;487;490	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	W	490;487;501;490	ENSP00000221283:R490W;ENSP00000409471:R487W;ENSP00000413606:R501W	ENSP00000221283:R490W	R	+	1	2	STXBP2	7618063	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	3.142000	0.50601	1.188000	0.43014	0.555000	0.69702	CGG		PASS	0.746	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		5	11	5	11	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8993007	8993007	+	Splice_Site	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:8993007T>C	ENST00000397910.4	-	67	41955	c.41752A>G	c.(41752-41754)Acc>Gcc	p.T13918A	MUC16_ENST00000380951.5_Splice_Site_p.T559A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13943				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13918A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATACTCACTGCTGGTGGTG	0.532																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41752-41754)ACC>GCC		mucin 16							128.0	118.0	121.0					19																	8993007		1920	4131	6051	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993007T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41752+1A>G	19.37:g.8993007T>C						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T735A|MUC16_uc010xki.1_RNA	p.T13918A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			67	41956	-			13921	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41752A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559659	0.27827	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.28666	1.6;1.6	2.64	0.263	0.15602	.	.	.	.	.	T	0.40171	0.1106	L	0.53617	1.68	.	.	.	B;P	0.51653	0.002;0.947	B;D	0.65010	0.001;0.931	T	0.44205	-0.9343	7	.	.	.	.	3.1709	0.06551	0.0:0.1543:0.2464:0.5993	.	21563;13918	Q8WXI7;B5ME49	MUC16_HUMAN;.	A	13918;559	ENSP00000381008:T13918A;ENSP00000370338:T559A	.	T	-	1	0	MUC16	8854007	0.277000	0.24220	0.239000	0.24122	0.138000	0.21146	0.031000	0.13710	-0.152000	0.11156	-0.842000	0.03052	ACC		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	29	82	29	82	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9577339	9577339	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:9577339G>C	ENST00000301480.4	-	10	2497	c.2284C>G	c.(2284-2286)Cat>Gat	p.H762D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	762					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.H762D(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCTCCCATATGAGTTCTTAAA	0.433																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(2284-2286)CAT>GAT		zinc finger protein 560							111.0	107.0	108.0					19																	9577339		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577339G>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2284C>G	19.37:g.9577339G>C	ENSP00000301480:p.His762Asp					ZNF560_uc010dwr.1_Missense_Mutation_p.H656D	p.H762D	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2494	-			762			C2H2-type 14.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.2284C>G	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592360	0.46214	.	.	ENSG00000198028	ENST00000301480	T	0.67698	-0.28	1.72	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85818	0.5785	H	0.97465	4.01	0.38974	D	0.9588	D	0.89917	1.0	D	0.87578	0.998	D	0.88088	0.2811	9	0.87932	D	0	.	9.4198	0.38544	0.0:0.0:1.0:0.0	.	762	Q96MR9	ZN560_HUMAN	D	762	ENSP00000301480:H762D	ENSP00000301480:H762D	H	-	1	0	ZNF560	9438339	0.988000	0.35896	0.012000	0.15200	0.022000	0.10575	3.296000	0.51802	1.265000	0.44215	0.462000	0.41574	CAT		PASS	0.433	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		26	88	26	88	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10083669	10083669	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:10083669A>G	ENST00000264828.3	-	51	3785	c.3700T>C	c.(3700-3702)Tca>Cca	p.S1234P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1234	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.S1234P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GATGGGCCTGAGTCCCCCTTT	0.592																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3700-3702)TCA>CCA		collagen, type V, alpha 3 preproprotein							43.0	35.0	38.0					19																	10083669		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10083669A>G	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3700T>C	19.37:g.10083669A>G	ENSP00000264828:p.Ser1234Pro						p.S1234P	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		51	3786	-			1234			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3700T>C	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613399	0.28712	.	.	ENSG00000080573	ENST00000264828	D	0.85411	-1.98	4.73	-3.59	0.04583	.	0.767288	0.11267	U	0.581937	T	0.53818	0.1820	N	0.02357	-0.585	0.09310	N	1	P	0.43169	0.8	B	0.35470	0.203	T	0.59873	-0.7372	10	0.02654	T	1	.	8.4241	0.32718	0.2589:0.1104:0.0:0.6307	.	1234	P25940	CO5A3_HUMAN	P	1234	ENSP00000264828:S1234P	ENSP00000264828:S1234P	S	-	1	0	COL5A3	9944669	0.000000	0.05858	0.070000	0.20053	0.939000	0.58152	-1.850000	0.01670	-1.277000	0.02411	-0.527000	0.04329	TCA		PASS	0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	10	3	10	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11362852	11362852	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:11362852G>A	ENST00000294618.7	-	5	461	c.450C>T	c.(448-450)ccC>ccT	p.P150P		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	150					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P150P(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGACCTGGCGGGGGAGGCCCT	0.627																																						uc002mqs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(448-450)CCC>CCT		dedicator of cytokinesis 6							27.0	30.0	29.0					19																	11362852		1994	4150	6144	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11362852G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.450C>T	19.37:g.11362852G>A							p.P150P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			5	491	-			150					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.450C>T	CCDS45975.1																																																																																				PASS	0.627	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	5	3	5	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11537557	11537557	+	Silent	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:11537557C>G	ENST00000356392.4	-	5	747	c.660G>C	c.(658-660)gcG>gcC	p.A220A	CCDC151_ENST00000586836.1_Silent_p.A29A|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Silent_p.A166A	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	220								p.A220A(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGGCCTCCTGCGCCTTCATCT	0.622																																						uc002mrs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(658-660)GCG>GCC		coiled-coil domain containing 151							61.0	64.0	63.0					19																	11537557		2059	4201	6260	SO:0001819	synonymous_variant	115948							g.chr19:11537557C>G		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.660G>C	19.37:g.11537557C>G						CCDC151_uc002mrr.2_Silent_p.A155A|CCDC151_uc010dxz.2_Intron	p.A220A	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			5	803	-			220			Potential.		B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.660G>C	CCDS42501.1																																																																																				PASS	0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		4	11	4	11	---	---	---	---
ELAVL3	1995	broad.mit.edu	37	19	11577040	11577040	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:11577040C>T	ENST00000359227.3	-	3	704	c.280G>A	c.(280-282)Gac>Aac	p.D94N	RN7SL669P_ENST00000581926.1_RNA|ELAVL3_ENST00000438662.2_Missense_Mutation_p.D94N	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	94	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.D94N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGCTTTGTCTGCATCATTG	0.547																																						uc002mry.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(280-282)GAC>AAC		ELAV-like protein 3 isoform 1							301.0	233.0	256.0					19																	11577040		2203	4300	6503	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11577040C>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.280G>A	19.37:g.11577040C>T	ENSP00000352162:p.Asp94Asn					ELAVL3_uc002mrx.1_Missense_Mutation_p.D94N	p.D94N	NM_001420	NP_001411	Q14576	ELAV3_HUMAN			3	660	-			94			RRM 1.		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.280G>A	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618846	0.66787	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.16597	2.33;2.33	4.55	4.55	0.56014	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	N	0.11154	0.105	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.19946	0.027;0.019	T	0.11567	-1.0582	10	0.48119	T	0.1	.	16.2604	0.82536	0.0:1.0:0.0:0.0	.	94;94	Q14576;Q14576-2	ELAV3_HUMAN;.	N	94	ENSP00000352162:D94N;ENSP00000390878:D94N	ENSP00000352162:D94N	D	-	1	0	ELAVL3	11438040	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	7.009000	0.76347	2.354000	0.79902	0.650000	0.86243	GAC		PASS	0.547	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		15	48	15	48	---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13041515	13041515	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:13041515C>T	ENST00000314606.4	-	2	214	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000588025.1_Missense_Mutation_p.E106K|FARSA_ENST00000423140.2_Missense_Mutation_p.E66K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	66					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E66K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCCTCGCCCTCCGCAGTAAGC	0.632																																						uc002mvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)GAG>AAG		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						50.0	49.0	49.0					19																	13041515		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041515C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.196G>A	19.37:g.13041515C>T	ENSP00000320309:p.Glu66Lys					FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.E66K|FARSA_uc010dyy.1_Intron	p.E66K	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			2	244	-			66					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.196G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145859	0.94603	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.73152	-0.72;-0.49	5.51	4.48	0.54585	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.968;0.98	D	0.90551	0.4509	10	0.87932	D	0	-19.2432	13.3241	0.60449	0.0:0.9221:0.0:0.0779	.	66;66	B4E363;Q9Y285	.;SYFA_HUMAN	K	66	ENSP00000320309:E66K;ENSP00000396548:E66K	ENSP00000320309:E66K	E	-	1	0	FARSA	12902515	1.000000	0.71417	0.864000	0.33941	0.875000	0.50365	7.346000	0.79347	1.342000	0.45619	0.561000	0.74099	GAG		PASS	0.632	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		15	21	15	21	---	---	---	---
OR7A10	390892	broad.mit.edu	37	19	14951900	14951900	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:14951900C>G	ENST00000248058.1	-	1	789	c.790G>C	c.(790-792)Gcc>Ccc	p.A264P		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A264P(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TTGTGGGTGGCAGCAGAACTA	0.483																																						uc002mzx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(790-792)GCC>CCC		olfactory receptor, family 7, subfamily A,							97.0	88.0	91.0					19																	14951900		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14951900C>G		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.790G>C	19.37:g.14951900C>G	ENSP00000248058:p.Ala264Pro						p.A264P	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	790	-	Ovarian(108;0.203)		264			Extracellular (Potential).		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.790G>C	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	10.02	1.235908	0.22626	.	.	ENSG00000127515	ENST00000248058	T	0.00137	8.68	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.882109	0.09065	U	0.853677	T	0.00241	0.0007	M	0.64997	1.995	0.09310	N	1	B	0.25850	0.136	B	0.35510	0.204	T	0.36383	-0.9750	10	0.56958	D	0.05	.	11.4206	0.49978	0.0:1.0:0.0:0.0	.	264	O76100	OR7AA_HUMAN	P	264	ENSP00000248058:A264P	ENSP00000248058:A264P	A	-	1	0	OR7A10	14812900	0.000000	0.05858	0.011000	0.14972	0.170000	0.22686	-0.752000	0.04797	1.590000	0.49995	0.134000	0.15878	GCC		PASS	0.483	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		25	52	25	52	---	---	---	---
SLC35E1	79939	broad.mit.edu	37	19	16664518	16664518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:16664518G>T	ENST00000595753.1	-	6	1222	c.1205C>A	c.(1204-1206)tCg>tAg	p.S402*	CTD-3222D19.2_ENST00000409035.1_Intron|SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.11_ENST00000597357.1_RNA	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	402					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.S258*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAAACTGTACGAGTTTGGGTA	0.542																																						uc010xph.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1204-1206)TCG>TAG		solute carrier family 35, member E1							193.0	175.0	181.0					19																	16664518		2203	4300	6503	SO:0001587	stop_gained	79939				transport	integral to membrane		g.chr19:16664518G>T	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1205C>A	19.37:g.16664518G>T	ENSP00000470652:p.Ser402*					MED26_uc002nee.2_Intron	p.S402*	NM_024881	NP_079157	Q96K37	S35E1_HUMAN			6	1223	-			402					Q8NBQ2|Q96JV7	Nonsense_Mutation	SNP	ENST00000595753.1	37	c.1205C>A	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301345	0.81136	.	.	ENSG00000127526	ENST00000409648	.	.	.	4.96	4.96	0.65561	.	0.436377	0.25264	N	0.031928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4238	17.2353	0.86997	0.0:0.0:1.0:0.0	.	.	.	.	X	402	.	ENSP00000387152:S402X	S	-	2	0	SLC35E1	16525518	0.897000	0.30589	0.403000	0.26384	0.537000	0.34900	5.295000	0.65692	2.307000	0.77673	0.561000	0.74099	TCG		PASS	0.542	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		5	107	5	107	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19112431	19112431	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:19112431G>T	ENST00000601879.1	-	8	3279	c.2982C>A	c.(2980-2982)tcC>tcA	p.S994S	SUGP2_ENST00000600377.1_Silent_p.S1008S|SUGP2_ENST00000456085.2_Silent_p.S763S|SUGP2_ENST00000452918.2_Silent_p.S994S|SUGP2_ENST00000337018.6_Silent_p.S994S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	994					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S994S(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTCTTTTTGGACATGGGAC	0.433																																						uc002nkx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2980-2982)TCC>TCA		splicing factor, arginine/serine-rich 14							118.0	99.0	105.0					19																	19112431		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19112431G>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2982C>A	19.37:g.19112431G>T						SFRS14_uc002nkz.1_Silent_p.S1008S|SFRS14_uc002nla.1_Silent_p.S994S|SFRS14_uc002nlb.2_Silent_p.S994S|SFRS14_uc010xqk.1_Silent_p.S763S	p.S994S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		8	3128	-			994					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2982C>A	CCDS12392.1																																																																																				PASS	0.433	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		5	52	5	52	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941187	22941187	+	Silent	SNP	A	A	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:22941187A>T	ENST00000596209.1	-	4	1614	c.1524T>A	c.(1522-1524)ccT>ccA	p.P508P	ZNF99_ENST00000397104.3_Silent_p.P417P	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	508					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.P417P(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)				CACATTTGCAAGGTTTCTCTT	0.348																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1249-1251)CCT>CCA		zinc finger protein 99							43.0	45.0	44.0					19																	22941187		2065	4221	6286	SO:0001819	synonymous_variant	7652							g.chr19:22941187A>T	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.1524T>A	19.37:g.22941187A>T							p.P417P	NM_001080409	NP_001073878					5	1251	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1251T>A	CCDS59369.1																																																																																				PASS	0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		19	50	19	50	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34262868	34262868	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:34262868C>T	ENST00000262622.4	+	4	933	c.175C>T	c.(175-177)Cca>Tca	p.P59S	CHST8_ENST00000434302.1_Missense_Mutation_p.P59S|CHST8_ENST00000438847.3_Missense_Mutation_p.P59S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	59					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.P59S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGGACCTCCCACCAGGCGG	0.637																																						uc002nus.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(175-177)CCA>TCA		carbohydrate (N-acetylgalactosamine 4-0)							45.0	57.0	53.0					19																	34262868		2192	4292	6484	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262868C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.175C>T	19.37:g.34262868C>T	ENSP00000262622:p.Pro59Ser					CHST8_uc002nut.3_Missense_Mutation_p.P59S|CHST8_uc002nuu.2_Missense_Mutation_p.P59S	p.P59S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	680	+	Esophageal squamous(110;0.162)		59			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.175C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195438	0.09599	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73897	-0.79;-0.79;-0.79	4.96	2.66	0.31614	.	1.121540	0.06687	N	0.768900	T	0.60495	0.2273	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46965	-0.9153	10	0.31617	T	0.26	-6.9377	7.4453	0.27207	0.1641:0.7448:0.0:0.0911	.	59	Q9H2A9	CHST8_HUMAN	S	59	ENSP00000392604:P59S;ENSP00000393879:P59S;ENSP00000262622:P59S	ENSP00000262622:P59S	P	+	1	0	CHST8	38954708	0.002000	0.14202	0.042000	0.18584	0.078000	0.17371	1.233000	0.32648	1.076000	0.40961	0.478000	0.44815	CCA		PASS	0.637	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		14	34	14	34	---	---	---	---
CD22	933	broad.mit.edu	37	19	35823475	35823475	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:35823475C>A	ENST00000085219.5	+	3	126	c.60C>A	c.(58-60)gaC>gaA	p.D20E	CD22_ENST00000270311.6_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.D20E|CD22_ENST00000594250.1_Missense_Mutation_p.D20E|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.D20E|CD22_ENST00000341773.6_Missense_Mutation_p.D20E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	20	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.D20E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTTTCTCTGACTCAAGTAAAT	0.463																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(58-60)GAC>GAA		CD22 molecule precursor	OspA lipoprotein(DB00045)						45.0	48.0	47.0					19																	35823475		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35823475C>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.60C>A	19.37:g.35823475C>A	ENSP00000085219:p.Asp20Glu					CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.D20E|CD22_uc010edv.2_Missense_Mutation_p.D20E|CD22_uc002nzb.3_Missense_Mutation_p.D20E	p.D20E	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	137	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		20			Extracellular (Potential).|Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.60C>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584220	0.28268	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.51574	1.13;0.75;0.7;1.07	5.32	0.723	0.18231	Immunoglobulin-like fold (1);	1.281050	0.05641	N	0.583358	T	0.40398	0.1115	L	0.57536	1.79	0.19300	N	0.999975	P;P;P;B	0.42248	0.763;0.774;0.651;0.007	B;B;B;B	0.42593	0.288;0.392;0.104;0.005	T	0.18840	-1.0324	10	0.06236	T	0.91	.	4.086	0.09947	0.1621:0.5782:0.0:0.2597	.	20;20;20;20	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	E	20	ENSP00000085219:D20E;ENSP00000442279:D20E;ENSP00000339349:D20E;ENSP00000441237:D20E	ENSP00000085219:D20E	D	+	3	2	CD22	40515315	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.258000	0.08733	-0.008000	0.14320	0.563000	0.77884	GAC		PASS	0.463	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		9	23	9	23	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37680650	37680650	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:37680650G>C	ENST00000532828.2	-	4	456	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	ZNF585B_ENST00000586320.1_Missense_Mutation_p.Q54E|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Q14E|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.Q69E|ZNF585B_ENST00000527838.1_Missense_Mutation_p.Q69E|ZNF585B_ENST00000312908.5_5'Flank	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q69E(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGGAACTTGATACCCTGTT	0.468																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)CAA>GAA		zinc finger protein 585B							150.0	123.0	132.0					19																	37680650		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37680650G>C	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.205C>G	19.37:g.37680650G>C	ENSP00000433773:p.Gln69Glu					ZNF585B_uc002ofr.1_Translation_Start_Site	p.Q69E	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	459	-			69			KRAB.		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.205C>G	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	5.288	0.238465	0.10023	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.39787	3.17;1.06;1.06	2.55	1.45	0.22620	Krueppel-associated box (3);	1.320450	0.05674	N	0.589239	T	0.21590	0.0520	N	0.11870	0.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40136	-0.9579	10	0.02654	T	1	.	7.1457	0.25581	0.0:0.2815:0.7185:0.0	.	69	Q52M93	Z585B_HUMAN	E	14;69;69	ENSP00000436774:Q14E;ENSP00000433773:Q69E;ENSP00000435268:Q69E	ENSP00000435268:Q69E	Q	-	1	0	ZNF585B	42372490	0.196000	0.23350	0.993000	0.49108	0.944000	0.59088	1.255000	0.32909	0.592000	0.29728	0.305000	0.20034	CAA		PASS	0.468	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		7	42	7	42	---	---	---	---
ZNF383	163087	broad.mit.edu	37	19	37734138	37734138	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:37734138G>T	ENST00000589413.1	+	8	1583	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	ZNF383_ENST00000590503.1_Missense_Mutation_p.G334C|ZNF383_ENST00000352998.3_Missense_Mutation_p.G334C			Q8NA42	ZN383_HUMAN	zinc finger protein 383	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G334C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCATACTGGTGAGAAACC	0.428																																						uc002oft.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1000-1002)GGT>TGT		zinc finger protein 383							80.0	85.0	83.0					19																	37734138		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734138G>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1000G>T	19.37:g.37734138G>T	ENSP00000464871:p.Gly334Cys					ZNF383_uc002ofs.1_Missense_Mutation_p.G269C|ZNF383_uc002ofu.1_Missense_Mutation_p.G334C	p.G334C	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1580	+			334					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1000G>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621935	0.66787	.	.	ENSG00000188283	ENST00000352998	T	0.01629	4.72	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32503	N	0.006010	T	0.12178	0.0296	M	0.88241	2.94	0.36996	D	0.895048	D	0.89917	1.0	D	0.97110	1.0	T	0.03945	-1.0990	10	0.87932	D	0	.	13.6439	0.62270	0.0:0.0:1.0:0.0	.	334	Q8NA42	ZN383_HUMAN	C	334	ENSP00000340132:G334C	ENSP00000340132:G334C	G	+	1	0	ZNF383	42425978	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.359000	0.59449	2.136000	0.66102	0.563000	0.77884	GGT		PASS	0.428	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		6	94	6	94	---	---	---	---
RPS19	6223	broad.mit.edu	37	19	42373788	42373788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:42373788C>T	ENST00000598742.1	+	5	748	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	RPS19_ENST00000593863.1_Nonsense_Mutation_p.Q126*|RPS19_ENST00000221975.2_Nonsense_Mutation_p.Q52*	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	126					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.Q126*(1)		endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						ACTGACACCTCAGGGACAAAG	0.617									Diamond-Blackfan Anemia																													uc002ort.2																			1	Substitution - Nonsense(1)		lung(1)		0	GRCh37	CM077624	RPS19	M		c.(376-378)CAG>TAG		ribosomal protein S19							82.0	71.0	75.0					19																	42373788		2203	4300	6503	SO:0001587	stop_gained	6223	Diamond-Blackfan_Anemia	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr19:42373788C>T	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.376C>T	19.37:g.42373788C>T	ENSP00000470972:p.Gln126*						p.Q126*	NM_001022	NP_001013	P39019	RS19_HUMAN			5	748	+			126						Nonsense_Mutation	SNP	ENST00000598742.1	37	c.376C>T	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	C	38	7.256405	0.98168	.	.	ENSG00000105372	ENST00000221975	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-14.5194	16.6886	0.85315	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000221975:Q126X	Q	+	1	0	RPS19	47065628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.808000	0.62583	2.612000	0.88384	0.563000	0.77884	CAG		PASS	0.617	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		13	53	13	53	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45493665	45493665	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:45493665G>T	ENST00000337392.5	+	10	1295	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	CLPTM1_ENST00000546079.1_Missense_Mutation_p.W280L|CLPTM1_ENST00000541297.2_Missense_Mutation_p.W368L	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	382					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.W382L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATCCAGTTCTGGAACAGCCGG	0.627																																						uc002pai.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1144-1146)TGG>TTG		cleft lip and palate associated transmembrane							120.0	122.0	121.0					19																	45493665		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45493665G>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1145G>T	19.37:g.45493665G>T	ENSP00000336994:p.Trp382Leu					CLPTM1_uc010xxf.1_Missense_Mutation_p.W280L|CLPTM1_uc010xxg.1_Missense_Mutation_p.W368L	p.W382L	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	10	1160	+		all_neural(266;0.224)|Ovarian(192;0.231)	382			Cytoplasmic (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1145G>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908781	0.92107	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.8	4.8	0.61643	.	0.063350	0.64402	D	0.000002	D	0.86029	0.5835	H	0.94698	3.57	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.71870	0.932;0.975	D	0.89885	0.4033	9	0.87932	D	0	-5.5634	15.4469	0.75238	0.0:0.0:1.0:0.0	.	368;382	F5H8J3;O96005	.;CLPT1_HUMAN	L	280;368;382;382	.	ENSP00000336994:W382L	W	+	2	0	CLPTM1	50185505	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.936000	0.92931	2.513000	0.84729	0.485000	0.47835	TGG		PASS	0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		5	87	5	87	---	---	---	---
PGLYRP1	8993	broad.mit.edu	37	19	46526200	46526200	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:46526200G>T	ENST00000008938.4	-	1	123	c.80C>A	c.(79-81)cCg>cAg	p.P27Q		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	27					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.P27Q(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCAGCAGGCCGGGTCTTCTGT	0.662																																						uc002pdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(79-81)CCG>CAG		peptidoglycan recognition protein 1 precursor							22.0	21.0	22.0					19																	46526200		2200	4298	6498	SO:0001583	missense	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46526200G>T	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.80C>A	19.37:g.46526200G>T	ENSP00000008938:p.Pro27Gln						p.P27Q	NM_005091	NP_005082	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	1	124	-		all_neural(266;0.113)|Ovarian(192;0.127)	27					Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	c.80C>A	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773329	0.16051	.	.	ENSG00000008438	ENST00000008938	T	0.07444	3.19	3.03	-5.01	0.02991	N-acetylmuramoyl-L-alanine amidase domain (1);	3.901000	0.00769	N	0.001200	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.14578	0.011	T	0.34428	-0.9829	10	0.15066	T	0.55	0.0187	3.753	0.08573	0.2205:0.0:0.2521:0.5274	.	27	O75594	PGRP1_HUMAN	Q	27	ENSP00000008938:P27Q	ENSP00000008938:P27Q	P	-	2	0	PGLYRP1	51218040	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.183000	0.09712	-0.560000	0.06102	0.650000	0.86243	CCG		PASS	0.662	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		3	2	3	2	---	---	---	---
GRWD1	83743	broad.mit.edu	37	19	48949683	48949683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:48949683G>T	ENST00000253237.5	+	2	462	c.229G>T	c.(229-231)Gga>Tga	p.G77*		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	77						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G77*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGATCACCTGGGAGACAACCG	0.577											OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pjd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(229-231)GGA>TGA		glutamate-rich WD repeat containing 1							67.0	64.0	65.0					19																	48949683		2203	4300	6503	SO:0001587	stop_gained	83743					nucleolus		g.chr19:48949683G>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.229G>T	19.37:g.48949683G>T	ENSP00000253237:p.Gly77*		OREG0025607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	958		p.G77*	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	2	462	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	77					Q8TF59	Nonsense_Mutation	SNP	ENST00000253237.5	37	c.229G>T	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	39	7.800656	0.98498	.	.	ENSG00000105447	ENST00000253237	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.9178	15.8478	0.78905	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000253237:G77X	G	+	1	0	GRWD1	53641495	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.957000	0.87870	2.357000	0.79964	0.462000	0.41574	GGA		PASS	0.577	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		6	46	6	46	---	---	---	---
RCN3	57333	broad.mit.edu	37	19	50040310	50040310	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:50040310G>C	ENST00000270645.3	+	4	913	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	156						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)	p.E156Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TCATGACGTGGAGGATGCAGA	0.532																																						uc002poj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)GAG>CAG		reticulocalbin 3, EF-hand calcium binding domain							144.0	148.0	146.0					19																	50040310		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50040310G>C	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.466G>C	19.37:g.50040310G>C	ENSP00000270645:p.Glu156Gln						p.E156Q	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	4	913	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	156					Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.466G>C	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847011	0.51164	.	.	ENSG00000142552	ENST00000270645	T	0.11495	2.77	5.05	4.0	0.46444	EF-hand-like domain (1);	0.300214	0.34700	N	0.003752	T	0.12135	0.0295	L	0.46670	1.46	0.42403	D	0.992578	B	0.23058	0.079	B	0.28849	0.095	T	0.07481	-1.0770	10	0.23891	T	0.37	-29.1149	13.7474	0.62883	0.0:0.0:0.8446:0.1554	.	156	Q96D15	RCN3_HUMAN	Q	156	ENSP00000270645:E156Q	ENSP00000270645:E156Q	E	+	1	0	RCN3	54732122	0.938000	0.31826	0.162000	0.22713	0.074000	0.17049	2.915000	0.48805	1.114000	0.41781	0.313000	0.20887	GAG		PASS	0.532	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		51	146	51	146	---	---	---	---
SIGLEC11	114132	broad.mit.edu	37	19	50463852	50463852	+	Silent	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:50463852C>G	ENST00000447370.2	-	2	507	c.417G>C	c.(415-417)gtG>gtC	p.V139V	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.V139V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	139					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V127V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AACTATGTCTCACACGGCTTC	0.567																																						uc010ybh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(415-417)GTG>GTC		sialic acid binding Ig-like lectin 11 isoform 1							39.0	58.0	52.0					19																	50463852		2000	4294	6294	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50463852C>G	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.417G>C	19.37:g.50463852C>G						SIGLEC11_uc010ybi.1_Silent_p.V139V	p.V139V	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	2	508	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	139			Extracellular (Potential).			Silent	SNP	ENST00000447370.2	37	c.417G>C	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	2.148	-0.395100	0.04899	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.28	0.881	0.19166	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6868	0.17807	0.0:0.685:0.0:0.315	.	.	.	.	S	129	.	.	X	-	2	2	SIGLEC11	55155664	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.370000	0.07523	0.118000	0.18165	-0.367000	0.07326	TGA		PASS	0.567	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		10	39	10	39	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401227	54401227	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:54401227C>A	ENST00000263431.3	+	10	1236	c.954C>A	c.(952-954)ggC>ggA	p.G318G	PRKCG_ENST00000542049.1_Silent_p.G205G|PRKCG_ENST00000540413.1_Silent_p.G318G|PRKCG_ENST00000536044.1_Missense_Mutation_p.A289D	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	318					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.G318G(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)	TGCGGATGGGcccctcttcct	0.592																																						uc002qcq.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(952-954)GGC>GGA		protein kinase C, gamma							99.0	101.0	100.0					19																	54401227		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:54401227C>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.954C>A	19.37:g.54401227C>A						PRKCG_uc010yef.1_Missense_Mutation_p.A289D|PRKCG_uc010yeg.1_Silent_p.G318G|PRKCG_uc010yeh.1_Silent_p.G205G	p.G318G	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1236	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		318					B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.954C>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978497	0.34942	.	.	ENSG00000126583	ENST00000536044	T	0.78364	-1.17	5.06	0.354	0.16063	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	B	0.16802	0.019	B	0.17098	0.017	T	0.58002	-0.7713	8	0.72032	D	0.01	.	3.3462	0.07136	0.0:0.3518:0.2113:0.4369	.	289	B7Z870	.	D	289	ENSP00000440541:A289D	ENSP00000440541:A289D	A	+	2	0	PRKCG	59093039	0.904000	0.30761	0.986000	0.45419	0.916000	0.54674	0.192000	0.17096	0.158000	0.19367	-0.350000	0.07774	GCC		PASS	0.592	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		20	50	20	50	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086892	55086892	+	Silent	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:55086892C>T	ENST00000251377.3	+	6	958	c.825C>T	c.(823-825)ctC>ctT	p.L275L	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L275L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.L275L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L263L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	275	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.L275L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGCTGGGCTCTCCCAGGCCA	0.617																																						uc002qgg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(823-825)CTC>CTT		leukocyte immunoglobulin-like receptor,							61.0	62.0	62.0					19																	55086892		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086892C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.825C>T	19.37:g.55086892C>T						LILRA2_uc010ern.2_Silent_p.L275L|LILRA2_uc002qgf.2_Silent_p.L275L|LILRA2_uc010yfe.1_Silent_p.L275L|LILRA2_uc010yff.1_Silent_p.L263L|LILRA2_uc010ero.2_Silent_p.L263L|LILRA2_uc010yfg.1_Intron	p.L275L	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	914	+			275			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.825C>T	CCDS46179.1																																																																																				PASS	0.617	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			12	47	12	47	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55713428	55713428	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:55713428G>T	ENST00000376350.3	-	6	1171	c.1149C>A	c.(1147-1149)acC>acA	p.T383T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T205T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	383	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T383T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCACCTGTGGTGGCATTTC	0.483																																						uc002qjq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1147-1149)ACC>ACA		protein tyrosine phosphatase, receptor type, H							115.0	117.0	116.0					19																	55713428		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713428G>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1149C>A	19.37:g.55713428G>T						PTPRH_uc010esv.2_Silent_p.T205T|PTPRH_uc002qjs.2_Silent_p.T390T	p.T383T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	1222	-		Renal(1328;0.245)	383			Extracellular (Potential).|Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1149C>A	CCDS33110.1																																																																																				PASS	0.483	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			9	544	9	544	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55813535	55813535	+	Splice_Site	SNP	C	C	A	rs549853359		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:55813535C>A	ENST00000309383.1	+	9	1133	c.856C>A	c.(856-858)Cta>Ata	p.L286I	BRSK1_ENST00000585418.1_Splice_Site_p.L286I|BRSK1_ENST00000326848.7_5'Flank|BRSK1_ENST00000590333.1_Splice_Site_p.L302I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	286					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L286L(2)|p.L286I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTTGGTACCTGTGAGTATG	0.562											OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qkg.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(856-858)CTA>ATA		BR serine/threonine kinase 1							203.0	210.0	208.0					19																	55813535		2203	4300	6503	SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55813535C>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.857+1C>A	19.37:g.55813535C>A			OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	BRSK1_uc002qkf.2_Missense_Mutation_p.L302I|BRSK1_uc002qkh.2_5'UTR	p.L286I	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	9	1133	+		Renal(1328;0.245)	286					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.856C>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	6.994	0.553490	0.13374	.	.	ENSG00000160469	ENST00000309383	T	0.25250	1.81	4.09	4.09	0.47781	Protein kinase-like domain (1);	0.098363	0.40908	D	0.000991	T	0.09992	0.0245	N	0.04669	-0.19	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.30401	0.115;0.07	T	0.19778	-1.0295	10	0.16420	T	0.52	.	5.2935	0.15739	0.2044:0.691:0.0:0.1046	.	286;302	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	I	286	ENSP00000310649:L286I	ENSP00000310649:L286I	L	+	1	2	BRSK1	60505347	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.552000	0.36244	2.309000	0.77851	0.563000	0.77884	CTA		PASS	0.562	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Missense_Mutation	12	924	12	924	---	---	---	---
UBE2S	27338	broad.mit.edu	37	19	55912921	55912921	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:55912921G>T	ENST00000264552.9	-	4	739	c.552C>A	c.(550-552)gcC>gcA	p.A184A	CTD-2105E13.13_ENST00000589101.1_lincRNA|UBE2S_ENST00000592570.1_5'Flank|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	184					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A184A(1)		lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGCCCCCTGGGGCCCCAGGGT	0.701																																						uc002qkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)GCC>GCA		ubiquitin-conjugating enzyme E2S							15.0	18.0	17.0					19																	55912921		1867	3923	5790	SO:0001819	synonymous_variant	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55912921G>T	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.552C>A	19.37:g.55912921G>T							p.A184A	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	4	920	-	Breast(117;0.155)		184					Q9BTC1	Silent	SNP	ENST00000264552.9	37	c.552C>A	CCDS33114.1																																																																																				PASS	0.701	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		8	182	8	182	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369237	56369237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56369237G>T	ENST00000301295.6	+	3	900	c.478G>T	c.(478-480)Gga>Tga	p.G160*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.G160*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.G85*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	160	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G160*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACAAGGAATTGGAAAAACGAC	0.473																																						uc002qmd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(478-480)GGA>TGA		NLR family, pyrin domain containing 4							131.0	117.0	122.0					19																	56369237		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56369237G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.478G>T	19.37:g.56369237G>T	ENSP00000301295:p.Gly160*					NLRP4_uc002qmf.2_Nonsense_Mutation_p.G85*|NLRP4_uc010etf.2_5'UTR	p.G160*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	900	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	160			NACHT.|ATP (Potential).		Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.478G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	39	7.342645	0.98224	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1967	0.65675	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000301295:G160X	G	+	1	0	NLRP4	61061049	1.000000	0.71417	0.057000	0.19452	0.003000	0.03518	5.224000	0.65288	2.277000	0.76020	0.655000	0.94253	GGA		PASS	0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		12	889	12	889	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56372833	56372833	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56372833G>T	ENST00000301295.6	+	4	2360	c.1938G>T	c.(1936-1938)caG>caT	p.Q646H	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q646H|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q571H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	646					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Q646H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCCAGGTGCAGGACAGCACCC	0.567																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1936-1938)CAG>CAT		NLR family, pyrin domain containing 4							117.0	96.0	103.0					19																	56372833		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56372833G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1938G>T	19.37:g.56372833G>T	ENSP00000301295:p.Gln646His					NLRP4_uc002qmf.2_Missense_Mutation_p.Q571H|NLRP4_uc010etf.2_Missense_Mutation_p.Q477H	p.Q646H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2360	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	646			LRR 1.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1938G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379970	0.42207	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.88124	-2.34;-2.34	4.49	-6.52	0.01872	.	.	.	.	.	T	0.70055	0.3180	N	0.08118	0	0.09310	N	1	B;B;D	0.60575	0.127;0.352;0.988	B;B;P	0.47981	0.121;0.168;0.563	T	0.64433	-0.6409	9	0.39692	T	0.17	.	0.9817	0.01437	0.3842:0.1971:0.2699:0.1488	.	646;571;646	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	646	ENSP00000301295:Q646H;ENSP00000344787:Q646H	ENSP00000301295:Q646H	Q	+	3	2	NLRP4	61064645	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.910000	0.04054	-1.164000	0.02790	-0.140000	0.14226	CAG		PASS	0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		10	568	10	568	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56372849	56372849	+	Nonsense_Mutation	SNP	G	G	T	rs371392690		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56372849G>T	ENST00000301295.6	+	4	2376	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E652*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E577*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	652					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E652*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CACCCTCAGCGAGTCGACCTT	0.567																																						uc002qmd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1954-1956)GAG>TAG		NLR family, pyrin domain containing 4							117.0	97.0	104.0					19																	56372849		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56372849G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1954G>T	19.37:g.56372849G>T	ENSP00000301295:p.Glu652*					NLRP4_uc002qmf.2_Nonsense_Mutation_p.E577*|NLRP4_uc010etf.2_Nonsense_Mutation_p.E483*	p.E652*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2376	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	652			LRR 1.		Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.1954G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	39	7.577485	0.98368	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.49	-3.11	0.05299	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	1.0595	0.01597	0.3553:0.1467:0.3476:0.1504	.	.	.	.	X	652	.	ENSP00000301295:E652X	E	+	1	0	NLRP4	61064661	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.163000	0.16520	-0.518000	0.06452	-0.176000	0.13171	GAG		PASS	0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	597	7	597	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423905	56423905	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56423905C>A	ENST00000342929.3	-	5	1277	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	NLRP13_ENST00000588751.1_Missense_Mutation_p.M426I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	426	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.M426I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCAACACACCATGGGGGCAC	0.438																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1276-1278)ATG>ATT		NACHT, leucine rich repeat and PYD containing							92.0	95.0	94.0					19																	56423905		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423905C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1278G>T	19.37:g.56423905C>A	ENSP00000343891:p.Met426Ile						p.M426I	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1303	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	426			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1278G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993824	0.35131	.	.	ENSG00000173572	ENST00000342929	T	0.70986	-0.53	2.76	0.0238	0.14139	.	.	.	.	.	T	0.47469	0.1447	N	0.10874	0.06	0.25237	N	0.989787	B	0.09022	0.002	B	0.06405	0.002	T	0.33979	-0.9847	9	0.35671	T	0.21	.	7.826	0.29315	0.0:0.4834:0.5166:0.0	.	426	Q86W25	NAL13_HUMAN	I	426	ENSP00000343891:M426I	ENSP00000343891:M426I	M	-	3	0	NLRP13	61115717	0.000000	0.05858	0.075000	0.20258	0.646000	0.38490	-0.686000	0.05161	0.422000	0.26005	0.591000	0.81541	ATG		PASS	0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		12	911	12	911	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56465898	56465898	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56465898G>T	ENST00000291971.3	+	3	545	c.474G>T	c.(472-474)atG>atT	p.M158I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M158I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	158					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.M158I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGAATGTGATGGAAAAGTTTT	0.423																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(472-474)ATG>ATT		NLR family, pyrin domain containing 8							97.0	95.0	95.0					19																	56465898		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56465898G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.474G>T	19.37:g.56465898G>T	ENSP00000291971:p.Met158Ile					NLRP8_uc010etg.2_Missense_Mutation_p.M158I	p.M158I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	545	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	158					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.474G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.195019	0.01594	.	.	ENSG00000179709	ENST00000291971	T	0.73789	-0.78	1.77	-3.53	0.04667	.	.	.	.	.	T	0.46092	0.1375	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11084	-1.0602	9	0.52906	T	0.07	.	3.8086	0.08788	0.2852:0.0:0.4397:0.2751	.	158;158	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	158	ENSP00000291971:M158I	ENSP00000291971:M158I	M	+	3	0	NLRP8	61157710	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.811000	0.04500	-2.759000	0.00371	-1.333000	0.01266	ATG		PASS	0.423	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	857	13	857	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56549482	56549482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56549482G>T	ENST00000390649.3	+	10	2707	c.2707G>T	c.(2707-2709)Gga>Tga	p.G903*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	903					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.G903*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGCCTGGCAGGAAACAAGGT	0.542																																						uc002qmj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2707-2709)GGA>TGA		NACHT, LRR and PYD containing protein 5							115.0	116.0	116.0					19																	56549482		2060	4204	6264	SO:0001587	stop_gained	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549482G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2707G>T	19.37:g.56549482G>T	ENSP00000375063:p.Gly903*					NLRP5_uc002qmi.2_Nonsense_Mutation_p.G884*	p.G903*	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	10	2707	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	903			LRR 7.		A8MTY4|Q86W29	Nonsense_Mutation	SNP	ENST00000390649.3	37	c.2707G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360336	0.95877	.	.	ENSG00000171487	ENST00000390649	.	.	.	3.66	0.342	0.15996	.	0.821066	0.09965	N	0.732881	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.0127	0.14321	0.4126:0.0:0.5874:0.0	.	.	.	.	X	903	.	ENSP00000375063:G903X	G	+	1	0	NLRP5	61241294	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.137000	0.10389	0.303000	0.22785	-0.136000	0.14681	GGA		PASS	0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		11	929	11	929	---	---	---	---
GALP	85569	broad.mit.edu	37	19	56694541	56694541	+	Missense_Mutation	SNP	G	G	T	rs567747236		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56694541G>T	ENST00000357330.2	+	5	337	c.255G>T	c.(253-255)aaG>aaT	p.K85N	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	85					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)		p.K85N(1)		lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		AGCCCTCCAAGAGGAATGTGA	0.502																																						uc002qmo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)AAG>AAT		galanin-like peptide isoform 1 precursor							104.0	96.0	98.0					19																	56694541		2203	4300	6503	SO:0001583	missense	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56694541G>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.255G>T	19.37:g.56694541G>T	ENSP00000349884:p.Lys85Asn					GALP_uc010eti.2_3'UTR	p.K85N	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	5	337	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	85					A1KXL3	Missense_Mutation	SNP	ENST00000357330.2	37	c.255G>T	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811596	0.32053	.	.	ENSG00000197487	ENST00000357330	T	0.56941	0.43	2.73	1.66	0.24008	.	.	.	.	.	T	0.38134	0.1029	L	0.29908	0.895	0.23653	N	0.99719	P	0.50943	0.94	B	0.42959	0.403	T	0.22417	-1.0217	9	0.72032	D	0.01	-6.3416	5.2502	0.15517	0.19:0.0:0.81:0.0	.	85	Q9UBC7	GALP_HUMAN	N	85	ENSP00000349884:K85N	ENSP00000349884:K85N	K	+	3	2	GALP	61386353	0.028000	0.19301	0.010000	0.14722	0.033000	0.12548	0.689000	0.25437	0.406000	0.25560	0.591000	0.81541	AAG		PASS	0.502	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		9	637	9	637	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701770	56701770	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56701770G>T	ENST00000586855.2	-	5	1227	c.914C>A	c.(913-915)tCc>tAc	p.S305Y	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S305Y			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	305					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.S305Y(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGGGAAATGGAGGAGGCATC	0.537																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(913-915)TCC>TAC		zinc finger and SCAN domain containing 5B							130.0	132.0	132.0					19																	56701770		2203	4298	6501	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701770G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.914C>A	19.37:g.56701770G>T	ENSP00000466072:p.Ser305Tyr						p.S305Y	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	914	-			305						Missense_Mutation	SNP	ENST00000586855.2	37	c.914C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079932	0.08533	.	.	ENSG00000197213	ENST00000358992	T	0.07114	3.22	1.41	1.41	0.22369	.	.	.	.	.	T	0.09024	0.0223	M	0.75447	2.3	0.09310	N	1	P	0.46277	0.875	B	0.39706	0.307	T	0.21621	-1.0240	9	0.13470	T	0.59	.	5.6313	0.17512	0.0:0.3499:0.6501:0.0	.	305	A6NJL1	ZSA5B_HUMAN	Y	305	ENSP00000351883:S305Y	ENSP00000351883:S305Y	S	-	2	0	ZSCAN5B	61393582	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.391000	0.07323	1.099000	0.41499	0.306000	0.20318	TCC		PASS	0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		14	914	14	914	---	---	---	---
ZSCAN5A	79149	broad.mit.edu	37	19	56733294	56733294	+	Nonsense_Mutation	SNP	C	C	A	rs142761513	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56733294C>A	ENST00000587340.1	-	7	1836	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	ZSCAN5A_ENST00000587492.1_Nonsense_Mutation_p.E235*|ZSCAN5A_ENST00000254165.3_Nonsense_Mutation_p.E264*|ZSCAN5A_ENST00000391713.1_Nonsense_Mutation_p.E381*|ZSCAN5A_ENST00000592355.1_Nonsense_Mutation_p.E380*			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	381					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.E381*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAGAGTCTCTCGCCTGTGTGT	0.517																																						uc002qmq.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1141-1143)GAG>TAG		zinc finger and SCAN domain containing 5A							67.0	67.0	67.0					19																	56733294		2203	4300	6503	SO:0001587	stop_gained	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733294C>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1141G>T	19.37:g.56733294C>A	ENSP00000467631:p.Glu381*					ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E264*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E381*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E380*	p.E381*	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1307	-			381					B4DX98|Q49A73|Q53F04|Q8N7B3	Nonsense_Mutation	SNP	ENST00000587340.1	37	c.1141G>T	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735424	0.96865	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	.	.	.	2.83	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4335	0.50054	0.0:1.0:0.0:0.0	.	.	.	.	X	381;264	.	ENSP00000254165:E264X	E	-	1	0	ZSCAN5A	61425106	0.995000	0.38212	0.782000	0.31804	0.082000	0.17680	4.633000	0.61318	1.599000	0.50093	0.561000	0.74099	GAG		PASS	0.517	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		10	559	10	559	---	---	---	---
ZSCAN5A	79149	broad.mit.edu	37	19	56733549	56733550	+	Missense_Mutation	DNP	TG	TG	CT	rs540546268|rs369166936	byFrequency	TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr19:56733549_56733550TG>CT	ENST00000587340.1	-	7	1580_1581	c.885_886CA>AG	c.(883-888)agCAgt>agAGgt	p.295_296SS>RG	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.149_150SS>RG|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.178_179SS>RG|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.295_296SS>RG|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.294_295SS>RG			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	295					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.S296G(1)|p.S295_S296>RG(1)|p.S295R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTTTGGGACTGCTCAGATTCA	0.545																																						uc002qmq.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	large_intestine(1)|ovary(1)|skin(1)	3						c.(886-888)AGT>GGT|c.(883-885)AGC>AGA		zinc finger and SCAN domain containing 5A																																				SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733549T>C|g.chr19:56733550G>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.885_886delinsCT	19.37:g.56733549_56733550delinsCT	ENSP00000467631:p.S295_S296delinsRG					ZSCAN5A_uc010ygi.1_Missense_Mutation_p.S179G|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.S296G|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S295G|ZSCAN5A_uc010ygi.1_Missense_Mutation_p.S178R|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.S295R|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S294R	p.S296G|p.S295R	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1052|1051	-			296|295					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.886A>G|c.885C>A	CCDS12941.1																																																																																				PASS	0.545	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		774|776	59|58	774	58	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11899249	11899249	+	Splice_Site	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:11899249G>T	ENST00000405977.1	+	2	951	c.326G>T	c.(325-327)aGa>aTa	p.R109I	BTBD3_ENST00000399006.2_Splice_Site_p.R48I|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_Splice_Site_p.R48I|BTBD3_ENST00000378226.2_Splice_Site_p.R109I	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	109					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R109I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ATTAGAGAGAGGTAAGTGCCG	0.448																																						uc002wnz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(325-327)AGA>ATA		BTB/POZ domain containing protein 3 isoform a							64.0	74.0	71.0					20																	11899249		2203	4300	6503	SO:0001630	splice_region_variant	22903							g.chr20:11899249G>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.326+1G>T	20.37:g.11899249G>T						BTBD3_uc002wny.2_Missense_Mutation_p.R48I|BTBD3_uc002woa.2_Missense_Mutation_p.R48I|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	p.R109I	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			1	685	+			109					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.326G>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209376	0.79240	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	6.08	6.08	0.98989	BTB/POZ fold (2);	0.117651	0.85682	D	0.000000	T	0.44477	0.1295	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.11542	-1.0583	10	0.72032	D	0.01	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	109	Q9Y2F9	BTBD3_HUMAN	I	48;48;109;48;109	ENSP00000254977:R48I;ENSP00000381971:R48I;ENSP00000384545:R109I;ENSP00000397809:R48I;ENSP00000367471:R109I	ENSP00000254977:R48I	R	+	2	0	BTBD3	11847249	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	AGA		PASS	0.448	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		Missense_Mutation	6	93	6	93	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13971175	13971175	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:13971175C>G	ENST00000284951.5	-	1	80	c.6G>C	c.(4-6)aaG>aaC	p.K2N	SEL1L2_ENST00000378072.5_Missense_Mutation_p.K2N|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	2						integral component of membrane (GO:0016021)		p.K2N(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						GAGACAAGGGCTTCATCTTCT	0.433																																						uc010gcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4-6)AAG>AAC		sel-1 suppressor of lin-12-like 2 precursor							102.0	95.0	97.0					20																	13971175		1875	4111	5986	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13971175C>G	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.6G>C	20.37:g.13971175C>G	ENSP00000284951:p.Lys2Asn					SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Missense_Mutation_p.K2N|SEL1L2_uc002wor.2_Intron	p.K2N	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			1	88	-			2					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.6G>C		.	.	.	.	.	.	.	.	.	.	C	8.281	0.815468	0.16607	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.22743	1.94;2.26	6.07	1.95	0.26073	.	0.309310	0.27420	N	0.019453	T	0.06280	0.0162	N	0.01874	-0.695	0.20196	N	0.999921	B;B	0.15930	0.015;0.004	B;B	0.12837	0.008;0.004	T	0.29941	-0.9995	10	0.28530	T	0.3	-0.0975	3.9348	0.09301	0.1738:0.5685:0.0:0.2577	.	2;2	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	N	2	ENSP00000367312:K2N;ENSP00000284951:K2N	ENSP00000284951:K2N	K	-	3	2	SEL1L2	13919175	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	-0.001000	0.12947	0.418000	0.25898	0.585000	0.79938	AAG		PASS	0.433	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		18	35	18	35	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16360239	16360239	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:16360239C>T	ENST00000354981.2	-	19	2565	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	KIF16B_ENST00000378003.2_Missense_Mutation_p.R29Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.R803Q|KIF16B_ENST00000355755.3_Missense_Mutation_p.R803Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	803	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R803Q(2)|p.R803L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTTCACCCGCAGGAGGGA	0.567																																						uc002wpg.1																			3	Substitution - Missense(3)	p.R803L(1)	lung(3)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2407-2409)CGG>CAG		kinesin-like motor protein C20orf23							61.0	62.0	61.0					20																	16360239		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360239C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2408G>A	20.37:g.16360239C>T	ENSP00000347076:p.Arg803Gln					KIF16B_uc002wpe.1_Missense_Mutation_p.R185Q|KIF16B_uc002wpf.1_Missense_Mutation_p.R185Q|KIF16B_uc010gch.1_Missense_Mutation_p.R803Q|KIF16B_uc010gci.1_Missense_Mutation_p.R803Q|KIF16B_uc010gcj.1_Missense_Mutation_p.R814Q	p.R803Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2566	-			803			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2408G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	c	8.128	0.782519	0.16189	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000378003;ENST00000408042	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.31	-3.58	0.04597	.	0.604415	0.16780	N	0.199815	T	0.09992	0.0245	N	0.25647	0.755	0.22305	N	0.99922	B;B;B;B	0.22146	0.001;0.065;0.002;0.001	B;B;B;B	0.15052	0.001;0.012;0.002;0.001	T	0.25117	-1.0141	10	0.23302	T	0.38	.	13.2623	0.60113	0.0:0.3234:0.0:0.6766	.	803;803;803;803	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	803;803;29;803	ENSP00000347076:R803Q;ENSP00000347995:R803Q;ENSP00000367242:R29Q;ENSP00000384164:R803Q	ENSP00000347076:R803Q	R	-	2	0	KIF16B	16308239	0.002000	0.14202	0.133000	0.22050	0.001000	0.01503	0.022000	0.13511	-0.643000	0.05473	-0.958000	0.02645	CGG		PASS	0.567	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		18	32	18	32	---	---	---	---
CST7	8530	broad.mit.edu	37	20	24938088	24938088	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:24938088T>C	ENST00000480798.1	+	2	512	c.236T>C	c.(235-237)cTa>cCa	p.L79P	CST7_ENST00000376835.2_Missense_Mutation_p.L101P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	79					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)	p.L101P(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACAAGGGCCCTAGTTCAGGTA	0.532																																						uc002wtx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)CTA>CCA		cystatin F							133.0	119.0	124.0					20																	24938088		2203	4300	6503	SO:0001583	missense	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24938088T>C	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.236T>C	20.37:g.24938088T>C	ENSP00000420384:p.Leu79Pro						p.L101P	NM_003650	NP_003641	O76096	CYTF_HUMAN			2	512	+			79					Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	c.302T>C	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	T	9.820	1.185635	0.21870	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.26067	1.76;1.76	4.69	4.69	0.59074	Proteinase inhibitor I25, cystatin (2);	0.193695	0.41938	D	0.000782	T	0.43919	0.1269	M	0.62723	1.935	0.58432	D	0.999991	D	0.89917	1.0	D	0.66847	0.947	T	0.24119	-1.0169	10	0.33940	T	0.23	-25.0277	12.1518	0.54053	0.0:0.0:0.0:1.0	.	79	O76096	CYTF_HUMAN	P	79;101	ENSP00000420384:L79P;ENSP00000366031:L101P	ENSP00000366031:L101P	L	+	2	0	CST7	24886088	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	3.835000	0.55805	1.965000	0.57142	0.459000	0.35465	CTA		PASS	0.532	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		18	64	18	64	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31573704	31573704	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:31573704G>T	ENST00000356173.3	-	11	827	c.735C>A	c.(733-735)aaC>aaA	p.N245K	SUN5_ENST00000375523.3_Missense_Mutation_p.N220K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	245	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.N245K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CAGGTGTCACGTTGGGCTAGA	0.567																																						uc002wyi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(733-735)AAC>AAA		sperm associated antigen 4-like							81.0	65.0	71.0					20																	31573704		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31573704G>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.735C>A	20.37:g.31573704G>T	ENSP00000348496:p.Asn245Lys						p.N245K	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			11	828	-			245			SUN.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.735C>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381338	0.42207	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	D;D	0.82526	-1.62;-1.62	5.57	2.52	0.30459	Sad1/UNC-like, C-terminal (2);	0.168736	0.49916	D	0.000127	D	0.86201	0.5876	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	D	0.83966	0.0324	10	0.62326	D	0.03	-28.3129	8.0621	0.30640	0.2587:0.0:0.7413:0.0	.	245	Q8TC36	SUN5_HUMAN	K	245;220	ENSP00000348496:N245K;ENSP00000364673:N220K	ENSP00000348496:N245K	N	-	3	2	SUN5	31037365	0.037000	0.19845	0.459000	0.27081	0.523000	0.34469	-0.093000	0.11111	0.284000	0.22305	-0.140000	0.14226	AAC		PASS	0.567	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		5	46	5	46	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34240640	34240640	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:34240640T>C	ENST00000374114.3	-	3	2868	c.2605A>G	c.(2605-2607)Att>Gtt	p.I869V	CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.I869V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.I869V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	869	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I869V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCTCATCAATAGACACAGTA	0.418																																						uc002xdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2605-2607)ATT>GTT		RNA binding motif protein 12							85.0	85.0	85.0					20																	34240640		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240640T>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2605A>G	20.37:g.34240640T>C	ENSP00000363228:p.Ile869Val					CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.I869V|RBM12_uc002xds.2_Missense_Mutation_p.I869V	p.I869V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2837	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		869			RRM 3.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2605A>G	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	1.009	-0.688615	0.03328	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.07021	3.23;3.23;3.23	5.3	2.98	0.34508	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.074671	0.52532	D	0.000067	T	0.02610	0.0079	N	0.04043	-0.29	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36890	-0.9729	10	0.02654	T	1	-8.8665	4.6729	0.12698	0.0:0.398:0.0:0.602	.	869	Q9NTZ6	RBM12_HUMAN	V	869;869;869;668	ENSP00000363228:I869V;ENSP00000352668:I869V;ENSP00000363217:I869V	ENSP00000339879:I668V	I	-	1	0	RBM12	33704054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.627000	0.67784	1.025000	0.39708	0.533000	0.62120	ATT		PASS	0.418	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		42	39	42	39	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443706	35443706	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:35443706G>A	ENST00000357779.3	-	5	1751	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SOGA1_ENST00000456801.2_Silent_p.I316I|SOGA1_ENST00000279034.6_Silent_p.I475I|SOGA1_ENST00000237536.4_Silent_p.I713I			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	475					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.I713I(3)|p.I475I(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GGCGCACCAGGATGGCATGGA	0.627																																						uc002xgd.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1423-1425)ATC>ATT		hypothetical protein LOC140710 isoform 2							46.0	52.0	50.0					20																	35443706		2203	4300	6503	SO:0001819	synonymous_variant	140710							g.chr20:35443706G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1425C>T	20.37:g.35443706G>A						C20orf117_uc002xge.1_RNA	p.I475I	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1752	-		Myeloproliferative disorder(115;0.00874)	475					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1425C>T																																																																																					PASS	0.627	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		16	52	16	52	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443718	35443718	+	Silent	SNP	G	G	C	rs367609865		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:35443718G>C	ENST00000357779.3	-	5	1739	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	SOGA1_ENST00000456801.2_Silent_p.L312L|SOGA1_ENST00000279034.6_Silent_p.L471L|SOGA1_ENST00000237536.4_Silent_p.L709L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	471					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L709L(3)|p.L471L(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGCATGGATGAGCTTGGTGT	0.637																																						uc002xgd.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1411-1413)CTC>CTG		hypothetical protein LOC140710 isoform 2							44.0	49.0	47.0					20																	35443718		2203	4300	6503	SO:0001819	synonymous_variant	140710							g.chr20:35443718G>C	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1413C>G	20.37:g.35443718G>C						C20orf117_uc002xge.1_RNA	p.L471L	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1740	-		Myeloproliferative disorder(115;0.00874)	471					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1413C>G																																																																																					PASS	0.637	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		11	45	11	45	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35444418	35444418	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:35444418G>A	ENST00000357779.3	-	5	1039	c.713C>T	c.(712-714)gCt>gTt	p.A238V	SOGA1_ENST00000456801.2_Missense_Mutation_p.A79V|SOGA1_ENST00000279034.6_Missense_Mutation_p.A238V|SOGA1_ENST00000237536.4_Missense_Mutation_p.A476V			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	238					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A476V(3)|p.A238V(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCCATCTCAGCCCGCAGGCC	0.657																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(712-714)GCT>GTT		hypothetical protein LOC140710 isoform 2							61.0	69.0	66.0					20																	35444418		2194	4293	6487	SO:0001583	missense	140710							g.chr20:35444418G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.713C>T	20.37:g.35444418G>A	ENSP00000350424:p.Ala238Val					C20orf117_uc002xge.1_RNA	p.A238V	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1040	-		Myeloproliferative disorder(115;0.00874)	238					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.713C>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.487118	0.84854	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.50277	1.88;1.94;0.75;1.96	5.24	5.24	0.73138	.	0.055638	0.64402	D	0.000001	T	0.55433	0.1920	N	0.19112	0.55	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.56703	-0.7935	10	0.45353	T	0.12	-23.316	17.7588	0.88457	0.0:0.0:1.0:0.0	.	238	O94964-4	.	V	476;238;79;238	ENSP00000237536:A476V;ENSP00000279034:A238V;ENSP00000413886:A79V;ENSP00000350424:A238V	ENSP00000237536:A476V	A	-	2	0	KIAA0889	34877832	1.000000	0.71417	0.974000	0.42286	0.935000	0.57460	7.659000	0.83766	2.723000	0.93209	0.655000	0.94253	GCT		PASS	0.657	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		16	13	16	13	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37137763	37137763	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:37137763G>T	ENST00000262879.6	+	6	1068	c.784G>T	c.(784-786)Gtt>Ttt	p.V262F	RALGAPB_ENST00000537204.1_Missense_Mutation_p.V262F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V262F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V40F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V262F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	262					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.V262F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCATTTAAAGTTCCCGATGA	0.373																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(784-786)GTT>TTT		Ral GTPase activating protein, beta subunit							218.0	196.0	203.0					20																	37137763		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37137763G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.784G>T	20.37:g.37137763G>T	ENSP00000262879:p.Val262Phe					RALGAPB_uc010zvz.1_Missense_Mutation_p.V262F|RALGAPB_uc002xix.2_Missense_Mutation_p.V262F|RALGAPB_uc002xiy.1_Missense_Mutation_p.V262F|RALGAPB_uc002xiz.2_Missense_Mutation_p.V40F|RALGAPB_uc002xja.1_5'UTR	p.V262F	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			6	1041	+			262					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.784G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372950	0.61624	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.31	2.29	0.28610	.	0.247012	0.39759	N	0.001271	T	0.42698	0.1214	L	0.40543	1.245	0.52501	D	0.999951	P;B;P;P	0.39250	0.665;0.235;0.527;0.527	B;B;B;B	0.40228	0.323;0.175;0.175;0.175	T	0.28554	-1.0040	9	0.66056	D	0.02	.	8.4863	0.33074	0.3795:0.0:0.6205:0.0	.	262;262;262;262	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	262;262;262;40;262;262;90	.	ENSP00000262879:V262F	V	+	1	0	RALGAPB	36571177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.243000	0.51392	0.246000	0.21394	0.467000	0.42956	GTT		PASS	0.373	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		68	70	68	70	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146532	37146532	+	Silent	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:37146532C>A	ENST00000262879.6	+	9	1590	c.1306C>A	c.(1306-1308)Cgg>Agg	p.R436R	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000537204.1_Silent_p.R436R|RALGAPB_ENST00000397042.3_Silent_p.R436R|RALGAPB_ENST00000397038.1_Silent_p.R214R|RALGAPB_ENST00000397040.1_Silent_p.R436R			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	436					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R436R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCCTGCCCCTCGGAGACCAAA	0.468																																						uc002xiw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1306-1308)CGG>AGG		Ral GTPase activating protein, beta subunit							117.0	111.0	113.0					20																	37146532		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146532C>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1306C>A	20.37:g.37146532C>A						RALGAPB_uc010zvz.1_Silent_p.R436R|RALGAPB_uc002xix.2_Silent_p.R436R|RALGAPB_uc002xiy.1_Silent_p.R436R|RALGAPB_uc002xiz.2_Silent_p.R214R|RALGAPB_uc002xja.1_Silent_p.R163R	p.R436R	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			9	1563	+			436					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.1306C>A	CCDS13305.1																																																																																				PASS	0.468	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	121	6	121	---	---	---	---
KCNS1	3787	broad.mit.edu	37	20	43723776	43723776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:43723776G>T	ENST00000306117.1	-	5	1712	c.1316C>A	c.(1315-1317)tCa>tAa	p.S439*	KCNS1_ENST00000537075.1_Nonsense_Mutation_p.S439*	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	439					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.S439*(1)		endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GATGCAGCCTGAGGCTGCCAG	0.612																																						uc002xnc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1315-1317)TCA>TAA		potassium voltage-gated channel							76.0	65.0	69.0					20																	43723776		2203	4300	6503	SO:0001587	stop_gained	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43723776G>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1316C>A	20.37:g.43723776G>T	ENSP00000307694:p.Ser439*					KCNS1_uc002xnd.2_Nonsense_Mutation_p.S439*	p.S439*	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			5	1713	-		Myeloproliferative disorder(115;0.0122)	439			Helical; Name=Segment S6; (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Nonsense_Mutation	SNP	ENST00000306117.1	37	c.1316C>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	G	38	6.967186	0.97971	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	.	.	.	5.67	5.67	0.87782	.	0.204195	0.41823	D	0.000801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3774	0.94517	0.0:0.0:1.0:0.0	.	.	.	.	X	439	.	ENSP00000307694:S439X	S	-	2	0	KCNS1	43157190	1.000000	0.71417	0.957000	0.39632	0.975000	0.68041	5.405000	0.66351	2.677000	0.91161	0.561000	0.74099	TCA		PASS	0.612	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		15	73	15	73	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43933243	43933243	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:43933243C>A	ENST00000372754.1	-	2	276	c.268G>T	c.(268-270)Gcg>Tcg	p.A90S	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.6_Missense_Mutation_p.A90S|MATN4_ENST00000342716.4_Missense_Mutation_p.A90S|MATN4_ENST00000372756.1_Missense_Mutation_p.A90S|MATN4_ENST00000537548.1_Missense_Mutation_p.A90S|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.A90S|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	90	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.A90S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGAGAGAACGCGCGGAGAGGG	0.647																																						uc002xnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GCG>TCG		matrilin 4 isoform 1 precursor							33.0	30.0	31.0					20																	43933243		2202	4300	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933243C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.268G>T	20.37:g.43933243C>A	ENSP00000361840:p.Ala90Ser					MATN4_uc002xno.2_Missense_Mutation_p.A90S|MATN4_uc002xnp.2_Missense_Mutation_p.A90S|MATN4_uc010zwr.1_Missense_Mutation_p.A38S|MATN4_uc002xnr.1_Missense_Mutation_p.A90S|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.A90S	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	455	-		Myeloproliferative disorder(115;0.0122)	90			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.268G>T		.	.	.	.	.	.	.	.	.	.	C	8.402	0.842098	0.16963	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.64	2.63	0.31362	.	0.000000	0.41938	D	0.000785	T	0.49660	0.1570	N	0.05467	-0.045	0.80722	D	1	B;B;B	0.30193	0.0;0.272;0.032	B;B;B	0.29785	0.01;0.107;0.095	T	0.23261	-1.0193	10	0.11485	T	0.65	.	3.1786	0.06577	0.1917:0.5293:0.0:0.2789	.	90;90;90	A6NNA4;O95460-4;O95460-2	.;.;.	S	90	ENSP00000361840:A90S;ENSP00000361842:A90S;ENSP00000243983:A90S;ENSP00000353819:A90S;ENSP00000343164:A90S;ENSP00000440328:A90S	ENSP00000255132:A90S	A	-	1	0	MATN4	43366657	0.984000	0.35163	0.554000	0.28268	0.018000	0.09664	2.314000	0.43743	0.542000	0.28846	0.462000	0.41574	GCG		PASS	0.647	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			6	35	6	35	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44050036	44050036	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:44050036G>T	ENST00000279036.6	+	9	1127	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V	PIGT_ENST00000341555.5_Silent_p.V155V|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000535404.1_Silent_p.V194V|PIGT_ENST00000545755.1_Silent_p.V87V|PIGT_ENST00000543458.2_Silent_p.V293V|PIGT_ENST00000279035.9_Silent_p.V247V	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	349					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.V349V(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCCCCCAGTGCCCTTCCTGC	0.587																																						uc002xoh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1045-1047)GTG>GTT		phosphatidylinositol glycan anchor biosynthesis,							38.0	38.0	38.0					20																	44050036		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050036G>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1047G>T	20.37:g.44050036G>T						PIGT_uc010ghd.1_Silent_p.V256V|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.V312V|PIGT_uc010ghf.1_Silent_p.V302V|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Silent_p.V314V|PIGT_uc010zwu.1_Silent_p.V87V|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.V87V|PIGT_uc010zww.1_Silent_p.V293V|PIGT_uc010zwx.1_Silent_p.V184V|PIGT_uc010zwy.1_Silent_p.V247V|PIGT_uc010zwz.1_Silent_p.V87V|PIGT_uc010zxa.1_Silent_p.V187V|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.V25V|PIGT_uc002xom.1_5'Flank	p.V349V	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			9	1120	+		Myeloproliferative disorder(115;0.0122)	349			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.1047G>T	CCDS13353.1																																																																																				PASS	0.587	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		6	30	6	30	---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44533736	44533736	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:44533736C>T	ENST00000477313.1	-	8	1321	c.727G>A	c.(727-729)Gag>Aag	p.E243K	PLTP_ENST00000542937.1_Missense_Mutation_p.E263K|PLTP_ENST00000420868.2_Missense_Mutation_p.E148K|PLTP_ENST00000372420.1_Missense_Mutation_p.E155K|PLTP_ENST00000354050.4_Missense_Mutation_p.E191K|PLTP_ENST00000372431.3_Missense_Mutation_p.E243K			P55058	PLTP_HUMAN	phospholipid transfer protein	243					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.E243K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGTTCCTCTCAGTCAGGGGG	0.632																																						uc002xqn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)GAG>AAG		phospholipid transfer protein isoform a							45.0	48.0	47.0					20																	44533736		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44533736C>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.727G>A	20.37:g.44533736C>T	ENSP00000417138:p.Glu243Lys					PLTP_uc002xql.1_Missense_Mutation_p.E155K|PLTP_uc002xqm.1_Missense_Mutation_p.E263K|PLTP_uc002xqo.1_Missense_Mutation_p.E191K|PLTP_uc002xqp.1_Missense_Mutation_p.E243K|PLTP_uc002xqq.1_Missense_Mutation_p.E212K|PLTP_uc010zxj.1_Missense_Mutation_p.E148K|PLTP_uc010ghj.1_Missense_Mutation_p.E243K	p.E243K	NM_006227	NP_006218	P55058	PLTP_HUMAN			9	807	-		Myeloproliferative disorder(115;0.0122)	243					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.727G>A	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	8.949	0.967734	0.18659	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99	5.25	3.16	0.36331	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.427590	0.27627	N	0.018538	T	0.08846	0.0219	L	0.36672	1.1	0.09310	N	1	B;B;B;P;P;P;P	0.35684	0.32;0.32;0.363;0.515;0.459;0.515;0.515	B;B;B;B;B;B;B	0.38156	0.248;0.248;0.197;0.197;0.124;0.197;0.266	T	0.27262	-1.0079	10	0.16420	T	0.52	-27.2783	9.2801	0.37722	0.0:0.6136:0.3042:0.0821	.	148;148;155;243;191;243;263	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	K	155;243;191;243;263;148	ENSP00000361497:E155K;ENSP00000361508:E243K;ENSP00000335290:E191K;ENSP00000417138:E243K;ENSP00000440296:E263K;ENSP00000411671:E148K	ENSP00000335290:E191K	E	-	1	0	PLTP	43967143	0.055000	0.20627	0.031000	0.17742	0.476000	0.33039	0.856000	0.27818	1.179000	0.42884	0.563000	0.77884	GAG		PASS	0.632	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		10	57	10	57	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44581131	44581131	+	Silent	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:44581131T>A	ENST00000322927.2	-	20	2944	c.2844A>T	c.(2842-2844)ccA>ccT	p.P948P	ZNF335_ENST00000426788.1_Silent_p.P793P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	948					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.P948P(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCTGGACTTGGGAAGGAGA	0.627																																						uc002xqw.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(2842-2844)CCA>CCT		zinc finger protein 335							63.0	67.0	66.0					20																	44581131		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581131T>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2844A>T	20.37:g.44581131T>A						ZNF335_uc002xqv.2_Silent_p.P60P|ZNF335_uc010zxk.1_Silent_p.P793P	p.P948P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			20	2967	-		Myeloproliferative disorder(115;0.0122)	948					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2844A>T	CCDS13389.1																																																																																				PASS	0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		90	56	90	56	---	---	---	---
SNAI1	6615	broad.mit.edu	37	20	48600442	48600442	+	Missense_Mutation	SNP	C	C	T	rs137950928		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:48600442C>T	ENST00000244050.2	+	2	225	c.164C>T	c.(163-165)tCg>tTg	p.S55L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	55					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.S55L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCCACCGCCTCGCTGCCAATG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14675	0.0		0.0	False		,,,				2504	0.0					uc002xuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(163-165)TCG>TTG		snail 1 homolog		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	52.0	55.0	54.0		164	4.0	0.9	20	dbSNP_134	54	0,8600		0,0,4300	no	missense	SNAI1	NM_005985.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	55/265	48600442	1,13005	2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600442C>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.164C>T	20.37:g.48600442C>T	ENSP00000244050:p.Ser55Leu						p.S55L	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	234	+			55					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.164C>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523828	0.27299	2.27E-4	0.0	ENSG00000124216	ENST00000244050	T	0.30182	1.54	4.94	3.97	0.46021	.	0.384658	0.28436	N	0.015353	T	0.19005	0.0456	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.18366	-1.0339	10	0.11182	T	0.66	-18.0455	2.4687	0.04559	0.2141:0.4829:0.2003:0.1027	.	55	O95863	SNAI1_HUMAN	L	55	ENSP00000244050:S55L	ENSP00000244050:S55L	S	+	2	0	SNAI1	48033849	0.995000	0.38212	0.879000	0.34478	0.461000	0.32589	3.580000	0.53907	2.289000	0.77006	0.557000	0.71058	TCG		PASS	0.637	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			9	84	9	84	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60572686	60572686	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:60572686C>G	ENST00000252996.4	-	14	3009	c.3010G>C	c.(3010-3012)Gcc>Ccc	p.A1004P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1004					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A1004P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTGAGGTTGGCGTCCCGCTGT	0.502																																						uc002ybs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3010-3012)GCC>CCC		TBP-associated factor 4							151.0	135.0	140.0					20																	60572686		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60572686C>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3010G>C	20.37:g.60572686C>G	ENSP00000252996:p.Ala1004Pro						p.A1004P	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		14	3010	-	Breast(26;1e-08)		1004					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.3010G>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958502	0.92726	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.67523	-0.18;-0.27	5.78	4.84	0.62591	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85488	0.1183	10	0.72032	D	0.01	-14.8821	14.7269	0.69351	0.0:0.9301:0.0:0.0699	.	1004	O00268	TAF4_HUMAN	P	1004;868	ENSP00000252996:A1004P;ENSP00000399091:A868P	ENSP00000252996:A1004P	A	-	1	0	TAF4	60006081	1.000000	0.71417	0.913000	0.36048	0.949000	0.60115	7.317000	0.79018	1.451000	0.47736	0.591000	0.81541	GCC		PASS	0.502	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		16	53	16	53	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60589753	60589753	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr20:60589753G>T	ENST00000252996.4	-	2	1370	c.1371C>A	c.(1369-1371)ctC>ctA	p.L457L	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	457					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L457L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACTTCGGACGAGGACCATTC	0.617																																						uc002ybs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1369-1371)CTC>CTA		TBP-associated factor 4							88.0	80.0	82.0					20																	60589753		2203	4300	6503	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60589753G>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1371C>A	20.37:g.60589753G>T							p.L457L	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		2	1371	-	Breast(26;1e-08)		457					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.1371C>A	CCDS33500.1																																																																																				PASS	0.617	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	81	5	81	---	---	---	---
CLDN17	26285	broad.mit.edu	37	21	31538660	31538660	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr21:31538660C>G	ENST00000286808.3	-	1	311	c.276G>C	c.(274-276)ttG>ttC	p.L92F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	92					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L92F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCAGGGCGATCAAGGAGAGAG	0.567																																						uc011acv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)TTG>TTC		claudin 17							71.0	74.0	73.0					21																	31538660		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538660C>G	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.276G>C	21.37:g.31538660C>G	ENSP00000286808:p.Leu92Phe						p.L92F	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	276	-			92			Helical; (Potential).		Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.276G>C	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	4.147	0.025700	0.08054	.	.	ENSG00000156282	ENST00000286808	D	0.89123	-2.47	5.22	-0.0944	0.13645	.	0.765649	0.12197	N	0.490669	T	0.66376	0.2783	N	0.02286	-0.61	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.57171	-0.7857	10	0.02654	T	1	.	6.8534	0.24028	0.2107:0.2094:0.5111:0.0688	.	92	P56750	CLD17_HUMAN	F	92	ENSP00000286808:L92F	ENSP00000286808:L92F	L	-	3	2	CLDN17	30460531	0.000000	0.05858	0.001000	0.08648	0.789000	0.44602	-0.823000	0.04443	-0.105000	0.12132	0.655000	0.94253	TTG		PASS	0.567	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		20	34	20	34	---	---	---	---
SON	6651	broad.mit.edu	37	21	34921900	34921900	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr21:34921900G>T	ENST00000356577.4	+	3	838	c.363G>T	c.(361-363)aaG>aaT	p.K121N	SON_ENST00000300278.4_Missense_Mutation_p.K121N|SON_ENST00000381679.4_Missense_Mutation_p.K121N|SON_ENST00000290239.6_Missense_Mutation_p.K121N|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	121					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K121N(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						agaagaaaaagaagaaagaaa	0.318											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(361-363)AAG>AAT		SON DNA-binding protein isoform F							23.0	25.0	24.0					21																	34921900		2195	4298	6493	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34921900G>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.363G>T	21.37:g.34921900G>T	ENSP00000348984:p.Lys121Asn		OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_uc002ysb.1_Missense_Mutation_p.K121N|SON_uc002ysc.2_Missense_Mutation_p.K121N|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.K121N	NM_138927	NP_620305	P18583	SON_HUMAN			3	412	+			121					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.363G>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363583	0.61513	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000016	T	0.28764	0.0713	L	0.29908	0.895	0.29587	N	0.848717	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.06409	-1.0828	10	0.87932	D	0	.	11.3067	0.49340	0.0833:0.0:0.9167:0.0	.	121;121;121	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	N	121	ENSP00000348984:K121N;ENSP00000290239:K121N;ENSP00000300278:K121N;ENSP00000371095:K121N	ENSP00000290239:K121N	K	+	3	2	SON	33843770	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.359000	0.52292	2.885000	0.99019	0.655000	0.94253	AAG		PASS	0.318	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		10	19	10	19	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43161628	43161628	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr21:43161628G>A	ENST00000352483.2	-	9	1933	c.1869C>T	c.(1867-1869)caC>caT	p.H623H	RIPK4_ENST00000544709.1_Silent_p.H512H|RIPK4_ENST00000542057.1_Silent_p.H512H|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.H575H			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	623					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H623H(1)|p.H575H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGCAGCGTAGTGCAGTGGCA	0.672																																						uc002yzn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1723-1725)CAC>CAT		ankyrin repeat domain 3							44.0	42.0	42.0					21																	43161628		2202	4298	6500	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161628G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1869C>T	21.37:g.43161628G>A							p.H575H	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1773	-			575					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1725C>T		.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043275	0.07452	.	.	ENSG00000183421	ENST00000330470	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.66839	0.2830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70153	-0.4950	5	0.72032	D	0.01	-40.0556	10.6644	0.45721	0.088:0.0:0.912:0.0	.	.	.	.	I	313	.	ENSP00000330975:T313I	T	-	2	0	RIPK4	42034697	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.861000	0.48380	2.250000	0.74265	0.591000	0.81541	ACT		PASS	0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		12	19	12	19	---	---	---	---
DGCR8	54487	broad.mit.edu	37	22	20094896	20094896	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr22:20094896G>T	ENST00000351989.3	+	12	2528	c.2099G>T	c.(2098-2100)cGt>cTt	p.R700L	DGCR8_ENST00000407755.1_Missense_Mutation_p.R667L|DGCR8_ENST00000383024.2_Missense_Mutation_p.R667L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	700	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.R700L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ATGTATGGCCGTGAGAGCAGC	0.552																																						uc002zri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2098-2100)CGT>CTT		DiGeorge syndrome critical region gene 8							105.0	91.0	95.0					22																	20094896		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20094896G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2099G>T	22.37:g.20094896G>T	ENSP00000263209:p.Arg700Leu					DGCR8_uc010grz.2_Missense_Mutation_p.R667L|DGCR8_uc002zrj.2_Missense_Mutation_p.R343L	p.R700L	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			12	2449	+	Colorectal(54;0.0993)		700			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.2099G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460162	0.96240	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33865	1.39;1.47;1.47	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.496	T	0.52011	-0.8632	10	0.59425	D	0.04	-9.8851	18.0598	0.89373	0.0:0.0:1.0:0.0	.	667;700	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	700;667;667	ENSP00000263209:R700L;ENSP00000372488:R667L;ENSP00000384726:R667L	ENSP00000263209:R700L	R	+	2	0	DGCR8	18474896	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	9.112000	0.94314	2.572000	0.86782	0.491000	0.48974	CGT		PASS	0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			15	44	15	44	---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26860753	26860753	+	Silent	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr22:26860753G>A	ENST00000398145.2	-	11	1459	c.843C>T	c.(841-843)gcC>gcT	p.A281A	HPS4_ENST00000402105.3_Silent_p.A276A|HPS4_ENST00000336873.5_Silent_p.A281A|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Silent_p.A294A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	281					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.A281A(1)|p.A294A(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GATGGTGCTGGGCTGAACCAT	0.572									Hermansky-Pudlak syndrome																													uc003acl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(841-843)GCC>GCT		light ear protein isoform a							88.0	75.0	80.0					22																	26860753		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860753G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.843C>T	22.37:g.26860753G>A						HPS4_uc003aci.2_Silent_p.A276A|HPS4_uc003acj.2_Silent_p.A145A|HPS4_uc003ack.2_Silent_p.A72A|HPS4_uc003acn.2_Silent_p.A127A|HPS4_uc010gvd.1_Silent_p.A299A|HPS4_uc003ach.2_Silent_p.A16A	p.A281A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	1502	-			281					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.843C>T	CCDS13835.1																																																																																				PASS	0.572	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		13	31	13	31	---	---	---	---
C22orf42	150297	broad.mit.edu	37	22	32555004	32555004	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr22:32555004G>T	ENST00000382097.3	-	1	271	c.199C>A	c.(199-201)Ccg>Acg	p.P67T	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67								p.P67T(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCGTCTTCGGGAGGCTGAGG	0.552																																						uc003amd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(199-201)CCG>ACG		chromosome 22 open reading frame 42							183.0	176.0	179.0					22																	32555004		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555004G>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.199C>A	22.37:g.32555004G>T	ENSP00000371529:p.Pro67Thr						p.P67T	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			1	240	-			67					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.199C>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061356	0.07317	.	.	ENSG00000205856	ENST00000382097	T	0.24350	1.86	.	.	.	.	.	.	.	.	T	0.20414	0.0491	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.56648	0.803	T	0.16335	-1.0406	7	0.49607	T	0.09	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	T	67	ENSP00000371529:P67T	ENSP00000371529:P67T	P	-	1	0	C22orf42	30885004	0.003000	0.15002	0.022000	0.16811	0.026000	0.11368	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG		PASS	0.552	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		7	205	7	205	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41565505	41565505	+	Splice_Site	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr22:41565505A>G	ENST00000263253.7	+	26	5391		c.e26-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATTTTGTATAGGAGAGTATA	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Unknown(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.e26-2		E1A binding protein p300							75.0	71.0	73.0					22																	41565505		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565505A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4173-1A>G	22.37:g.41565505A>G							p.R1391_splice	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4568	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37	c.4173_splice	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549487	0.65311	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6988	0.77521	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39895451	1.000000	0.71417	0.911000	0.35937	0.628000	0.37860	9.237000	0.95368	2.115000	0.64714	0.455000	0.32223	.		PASS	0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	22	27	22	27	---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45133115	45133115	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr22:45133115G>T	ENST00000336985.6	+	8	1432	c.1155G>T	c.(1153-1155)caG>caT	p.Q385H	PRR5_ENST00000006251.7_Missense_Mutation_p.Q376H|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.Q408H|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	385					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.Q408H(1)|p.Q385H(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GGGGCCGGCAGAGTGTCGTGT	0.587																																						uc003bfb.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1153-1155)CAG>CAT		proline rich 5 (renal) isoform 1							22.0	28.0	26.0					22																	45133115		2194	4281	6475	SO:0001583	missense	55615				cell cycle			g.chr22:45133115G>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.1155G>T	22.37:g.45133115G>T	ENSP00000337464:p.Gln385His					PRR5_uc003bew.1_Missense_Mutation_p.Q376H|PRR5_uc003bex.1_Missense_Mutation_p.Q290H|PRR5_uc010gzt.1_Missense_Mutation_p.Q408H|PRR5_uc010gzu.1_Missense_Mutation_p.Q349H|PRR5_uc003bey.1_Missense_Mutation_p.Q376H|PRR5_uc003bez.1_Missense_Mutation_p.Q290H|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.Q278H|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.Q284H	p.Q385H	NM_181333	NP_851850	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1427	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	385					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.1155G>T	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.27|18.27	3.585886|3.585886	0.66105|0.66105	.|.	.|.	ENSG00000186654|ENSG00000186654	ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985|ENST00000455389	T;T;T|.	0.33654|.	1.42;1.4;1.42|.	5.82|5.82	2.42|2.42	0.29668|0.29668	.|.	.|.	.|.	.|.	.|.	T|T	0.51907|0.51907	0.1702|0.1702	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.30914|.	0.089;0.153;0.3;0.02;0.199|.	B;B;B;B;B|.	0.29785|.	0.031;0.025;0.107;0.015;0.05|.	T|T	0.37731|0.37731	-0.9693|-0.9693	8|5	.|.	.|.	.|.	.|.	5.4699|5.4699	0.16664|0.16664	0.3065:0.1352:0.5584:0.0|0.3065:0.1352:0.5584:0.0	.|.	349;408;284;385;385|.	B1AHF5;B1AHF6;P85299-2;P85299;A8K699|.	.;.;.;PRR5_HUMAN;.|.	H|I	376;349;408;385|345	ENSP00000006251:Q376H;ENSP00000384848:Q408H;ENSP00000337464:Q385H|.	.|.	Q|R	+|+	3|2	2|0	PRR5|PRR5	43511779|43511779	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.526000|0.526000	0.34562|0.34562	1.787000|1.787000	0.38704|0.38704	0.304000|0.304000	0.22809|0.22809	0.561000|0.561000	0.74099|0.74099	CAG|AGA		PASS	0.587	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		10	20	10	20	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8503661	8503661	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:8503661T>A	ENST00000262648.3	-	12	1962	c.1813A>T	c.(1813-1815)Att>Ttt	p.I605F	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	605	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I605F(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGTGAAATAATGCTGTTGGGT	0.493																																						uc004csf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1813-1815)ATT>TTT		Kallmann syndrome 1 protein precursor							171.0	127.0	142.0					X																	8503661		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8503661T>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1813A>T	X.37:g.8503661T>A	ENSP00000262648:p.Ile605Phe						p.I605F	NM_000216	NP_000207	P23352	KALM_HUMAN			12	1963	-			605			Fibronectin type-III 4.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1813A>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233337	0.39498	.	.	ENSG00000011201	ENST00000262648	T	0.78707	-1.2	4.43	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055572	0.64402	D	0.000001	T	0.81088	0.4750	L	0.44542	1.39	0.43841	D	0.996423	D	0.69078	0.997	D	0.74348	0.983	T	0.78585	-0.2147	10	0.72032	D	0.01	-22.6232	9.7523	0.40483	0.0:0.0:0.3297:0.6703	.	605	P23352	KALM_HUMAN	F	605	ENSP00000262648:I605F	ENSP00000262648:I605F	I	-	1	0	KAL1	8463661	1.000000	0.71417	0.966000	0.40874	0.112000	0.19704	3.081000	0.50120	-0.004000	0.14419	0.486000	0.48141	ATT		PASS	0.493	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		17	16	17	16	---	---	---	---
GEMIN8	54960	broad.mit.edu	37	X	14027118	14027118	+	Missense_Mutation	SNP	T	T	C	rs376003806		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:14027118T>C	ENST00000380523.4	-	5	961	c.643A>G	c.(643-645)Atg>Gtg	p.M215V	GEMIN8_ENST00000398355.3_Missense_Mutation_p.M215V	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	215					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.M215V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GCGGCCTCCATGGCTTGGATC	0.627																																						uc004cwb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)ATG>GTG		gem (nuclear organelle) associated protein 8		T	VAL/MET,VAL/MET,VAL/MET	3,3832		0,2,1,1630,570	86.0	78.0	80.0		643,643,643	5.4	1.0	X		80	0,6728		0,0,0,2428,1872	no	missense,missense,missense	GEMIN8	NM_001042479.1,NM_001042480.1,NM_017856.2	21,21,21	0,2,1,4058,2442	CC,CT,C,TT,T		0.0,0.0782,0.0284	benign,benign,benign	215/243,215/243,215/243	14027118	3,10560	2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027118T>C	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.643A>G	X.37:g.14027118T>C	ENSP00000369895:p.Met215Val					GEMIN8_uc004cwc.2_Missense_Mutation_p.M215V|GEMIN8_uc004cwd.2_Missense_Mutation_p.M215V	p.M215V	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			5	986	-			215					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.643A>G	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	15.66	2.900328	0.52227	7.82E-4	0.0	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.57107	0.42;0.42	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.81112	2.525	0.58432	D	0.999999	D	0.55800	0.973	P	0.53401	0.725	T	0.72743	-0.4201	10	0.72032	D	0.01	.	13.7033	0.62622	0.0:0.0:0.0:1.0	.	215	Q9NWZ8	GEMI8_HUMAN	V	215	ENSP00000369895:M215V;ENSP00000381398:M215V	ENSP00000369895:M215V	M	-	1	0	GEMIN8	13937039	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	6.008000	0.70739	1.833000	0.53350	0.430000	0.28490	ATG		PASS	0.627	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		18	22	18	22	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18189144	18189144	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:18189144G>T	ENST00000380033.4	-	13	2294	c.2162C>A	c.(2161-2163)cCc>cAc	p.P721H	BEND2_ENST00000380030.3_Missense_Mutation_p.P630H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	721	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.P721H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCTTATTGGGGTCAAGGGC	0.408																																						uc004cyj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2161-2163)CCC>CAC		BEN domain containing 2							193.0	172.0	179.0					X																	18189144		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18189144G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2162C>A	X.37:g.18189144G>T	ENSP00000369372:p.Pro721His					BEND2_uc010nfb.2_Missense_Mutation_p.P630H	p.P721H	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			13	2316	-			721			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2162C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	9.286	1.049480	0.19827	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.54866	0.55;0.55	5.49	-1.63	0.08345	BEN domain (2);	2.002660	0.02591	N	0.099926	T	0.60444	0.2269	L	0.52126	1.63	0.09310	N	1	D;D	0.60160	0.987;0.987	P;P	0.62813	0.907;0.907	T	0.47509	-0.9112	10	0.46703	T	0.11	9.7484	3.2251	0.06729	0.0825:0.27:0.3368:0.3108	.	630;721	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	H	721;630	ENSP00000369372:P721H;ENSP00000369369:P630H	ENSP00000369369:P630H	P	-	2	0	BEND2	18099065	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.067000	0.11579	-0.424000	0.07382	0.556000	0.70494	CCC		PASS	0.408	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		58	32	58	32	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19021038	19021038	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:19021038A>G	ENST00000379869.3	-	24	2319	c.2156T>C	c.(2155-2157)aTg>aCg	p.M719T	GPR64_ENST00000360279.4_Missense_Mutation_p.M697T|GPR64_ENST00000356606.4_Missense_Mutation_p.M705T|GPR64_ENST00000357544.3_Missense_Mutation_p.M689T|GPR64_ENST00000379876.1_Missense_Mutation_p.M695T|GPR64_ENST00000379873.2_Missense_Mutation_p.M719T|GPR64_ENST00000357991.3_Missense_Mutation_p.M716T|GPR64_ENST00000340581.3_Missense_Mutation_p.M600T|GPR64_ENST00000379878.3_Missense_Mutation_p.M703T|GPR64_ENST00000354791.3_Missense_Mutation_p.M703T	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	719					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.M716T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGCCAGGTACATATGGAATGC	0.413																																						uc004cyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2155-2157)ATG>ACG		G protein-coupled receptor 64 isoform 1							95.0	89.0	91.0					X																	19021038		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19021038A>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2156T>C	X.37:g.19021038A>G	ENSP00000369198:p.Met719Thr					GPR64_uc004cyy.2_Missense_Mutation_p.M716T|GPR64_uc004cyz.2_Missense_Mutation_p.M705T|GPR64_uc004czb.2_Missense_Mutation_p.M719T|GPR64_uc004czc.2_Missense_Mutation_p.M703T|GPR64_uc004czd.2_Missense_Mutation_p.M695T|GPR64_uc004cze.2_Missense_Mutation_p.M689T|GPR64_uc004czf.2_Missense_Mutation_p.M681T|GPR64_uc004cza.2_Missense_Mutation_p.M697T|GPR64_uc004cyw.2_Missense_Mutation_p.M703T|GPR64_uc010nfj.2_Missense_Mutation_p.M600T	p.M719T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			24	2320	-	Hepatocellular(33;0.183)		719			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2156T>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.857211	0.71834	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.36	5.36	0.76844	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000004	T	0.57621	0.2066	M	0.63428	1.95	0.58432	D	0.999996	D;P;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.699;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.983;0.665;0.999;0.996;0.996;0.998;0.999;0.998;0.998;0.998;0.999	T	0.61530	-0.7044	10	0.87932	D	0	.	14.4356	0.67279	1.0:0.0:0.0:0.0	.	600;681;689;695;703;719;697;705;716;719;703	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	T	719;703;703;695;689;719;697;716;705;600	ENSP00000369202:M719T;ENSP00000369207:M703T;ENSP00000346845:M703T;ENSP00000369205:M695T;ENSP00000350152:M689T;ENSP00000369198:M719T;ENSP00000353421:M697T;ENSP00000350680:M716T;ENSP00000349015:M705T;ENSP00000344972:M600T	ENSP00000344972:M600T	M	-	2	0	GPR64	18930959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.907000	0.92634	1.788000	0.52465	0.441000	0.28932	ATG		PASS	0.413	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			45	19	45	19	---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49143531	49143531	+	Silent	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:49143531C>G	ENST00000055335.6	+	4	2395	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L	PPP1R3F_ENST00000495799.1_Silent_p.L447L|PPP1R3F_ENST00000376188.1_Silent_p.L447L|PPP1R3F_ENST00000466508.1_Silent_p.L447L|PPP1R3F_ENST00000438316.1_Silent_p.L464L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	793					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.L793L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CGCTGTGCCTCTCTCTGGCTT	0.612																																						uc004dnh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2377-2379)CTC>CTG		protein phosphatase 1, regulatory (inhibitor)							56.0	44.0	48.0					X																	49143531		2203	4300	6503	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49143531C>G		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2379C>G	X.37:g.49143531C>G						PPP1R3F_uc011mnd.1_Silent_p.L464L|PPP1R3F_uc004dni.2_Silent_p.L447L|PPP1R3F_uc004dnj.1_Silent_p.L447L	p.L793L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	2395	+	Ovarian(276;0.236)		793			Cytoplasmic (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.2379C>G	CCDS35254.1																																																																																				PASS	0.612	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		12	8	12	8	---	---	---	---
UBQLN2	29978	broad.mit.edu	37	X	56591546	56591546	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:56591546C>T	ENST00000338222.5	+	1	1521	c.1240C>T	c.(1240-1242)Ccg>Tcg	p.P414S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	414					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P414S(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGAATAGCCCGCTGTTTAC	0.537																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1240-1242)CCG>TCG		ubiquilin 2							40.0	34.0	36.0					X																	56591546		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591546C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1240C>T	X.37:g.56591546C>T	ENSP00000345195:p.Pro414Ser					UBQLN2_uc011moq.1_Missense_Mutation_p.P414S	p.P414S	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1475	+			414					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1240C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462462	0.63513	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.84660	-1.88	4.73	4.73	0.59995	Heat shock chaperonin-binding (1);	0.080323	0.52532	D	0.000064	D	0.93077	0.7796	M	0.90705	3.14	0.80722	D	1	D;D	0.71674	0.973;0.998	P;D	0.73380	0.658;0.98	D	0.93923	0.7207	10	0.56958	D	0.05	-10.5221	14.3069	0.66391	0.0:1.0:0.0:0.0	.	414;414	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	S	414	ENSP00000345195:P414S	ENSP00000345195:P414S	P	+	1	0	UBQLN2	56608271	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.657000	0.54474	2.344000	0.79699	0.594000	0.82650	CCG		PASS	0.537	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		8	9	8	9	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649174	75649174	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:75649174T>C	ENST00000361470.2	+	1	1129	c.851T>C	c.(850-852)tTg>tCg	p.L284S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	284	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.L284S(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGCATCTCCTTGGTGCCCACC	0.692																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(850-852)TTG>TCG		melanoma antigen family E, 1							30.0	26.0	28.0					X																	75649174		2201	4295	6496	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649174T>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.851T>C	X.37:g.75649174T>C	ENSP00000354912:p.Leu284Ser						p.L284S	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1058	+			284			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.851T>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	t	5.067	0.198029	0.09652	.	.	ENSG00000198934	ENST00000361470	T	0.08807	3.05	1.32	-0.0861	0.13683	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.47129	-0.9141	9	0.19147	T	0.46	.	5.0247	0.14379	0.0:0.0:0.3041:0.6959	.	284	Q9HCI5	MAGE1_HUMAN	S	284	ENSP00000354912:L284S	ENSP00000354912:L284S	L	+	2	0	MAGEE1	75565578	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.137000	0.03219	-0.089000	0.12484	0.352000	0.21897	TTG		PASS	0.692	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		8	9	8	9	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927345	92927345	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:92927345T>A	ENST00000373079.3	-	1	1222	c.959A>T	c.(958-960)aAg>aTg	p.K320M	FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K313M|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	320					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.K320M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GTCAACATTCTTTAAAACAAT	0.438																																						uc004efq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(958-960)AAG>ATG		nucleosome assembly protein 1-like 3							59.0	55.0	56.0					X																	92927345		2203	4298	6501	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927345T>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.959A>T	X.37:g.92927345T>A	ENSP00000362171:p.Lys320Met					FAM133A_uc004efr.1_5'Flank	p.K320M	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1264	-			320					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.959A>T	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541974	0.45280	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.30182	1.54	3.68	2.51	0.30379	.	0.048073	0.85682	D	0.000000	T	0.47284	0.1437	M	0.71581	2.175	0.32005	N	0.602803	D	0.89917	1.0	D	0.91635	0.999	T	0.54268	-0.8319	10	0.62326	D	0.03	.	4.844	0.13505	0.0:0.1426:0.0:0.8573	.	320	Q99457	NP1L3_HUMAN	M	320;313	ENSP00000362171:K320M	ENSP00000362171:K320M	K	-	2	0	NAP1L3	92814001	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	3.673000	0.54591	0.611000	0.30052	0.430000	0.28490	AAG		PASS	0.438	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		17	17	17	17	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105075047	105075047	+	Splice_Site	SNP	G	G	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:105075047G>A	ENST00000243300.9	+	2	361	c.58G>A	c.(58-60)Gat>Aat	p.D20N	NRK_ENST00000428173.2_Splice_Site_p.D20N|NRK_ENST00000536164.1_Splice_Site_p.D20N	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	20					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D20N(2)|p.D20Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTTTTGCAGGATCCAACTGG	0.284										HNSCC(51;0.14)																												uc004emd.2																			4	Substitution - Missense(4)		lung(4)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(58-60)GAT>AAT		Nik related kinase							111.0	104.0	106.0					X																	105075047		1804	4062	5866	SO:0001630	splice_region_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105075047G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.58-1G>A	X.37:g.105075047G>A		HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.D20N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			2	361	+			20					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.58G>A		.	.	.	.	.	.	.	.	.	.	G	16.16	3.044822	0.55110	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.79033	-1.23;-1.23;0.78	4.7	4.7	0.59300	Protein kinase-like domain (1);	0.000000	0.39985	N	0.001206	T	0.77274	0.4106	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75926	-0.3145	9	.	.	.	.	12.3352	0.55062	0.0:0.0:1.0:0.0	.	20	Q7Z2Y5	NRK_HUMAN	N	20	ENSP00000434830:D20N;ENSP00000438378:D20N;ENSP00000438785:D20N	.	D	+	1	0	NRK	104961703	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	4.640000	0.61368	2.049000	0.60858	0.594000	0.82650	GAT		PASS	0.284	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Missense_Mutation	12	7	12	7	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128902323	128902323	+	Silent	SNP	G	G	T			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:128902323G>T	ENST00000371106.3	+	21	2079	c.1887G>T	c.(1885-1887)ctG>ctT	p.L629L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	629						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.L629L(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GTCCAGAGCTGCAGAGGCGCC	0.612																																						uc004eut.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1885-1887)CTG>CTT		X-prolyl aminopeptidase 2, membrane-bound							69.0	64.0	66.0					X																	128902323		2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128902323G>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1887G>T	X.37:g.128902323G>T							p.L629L	NM_003399	NP_003390	O43895	XPP2_HUMAN			21	2131	+			629					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1887G>T	CCDS14613.1																																																																																				PASS	0.612	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		16	9	16	9	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038193	139038193	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:139038193C>A	ENST00000370540.1	-	3	971	c.948G>T	c.(946-948)agG>agT	p.R316S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	316						integral component of membrane (GO:0016021)		p.R316S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATGCATTGTTCCTGGAATCTA	0.378																																						uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)AGG>AGT		hypothetical protein LOC347487 precursor							221.0	186.0	197.0					X																	139038193		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038193C>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.948G>T	X.37:g.139038193C>A	ENSP00000359571:p.Arg316Ser						p.R316S	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	970	-			316			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.948G>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022905	0.35701	.	.	ENSG00000203933	ENST00000370540	T	0.54279	0.58	4.04	2.07	0.26955	.	1.368200	0.04902	N	0.451525	T	0.38904	0.1058	L	0.29908	0.895	0.09310	N	1	P	0.36837	0.571	B	0.36335	0.222	T	0.26155	-1.0111	9	.	.	.	2.5583	3.566	0.07900	0.0:0.5806:0.2537:0.1657	.	316	Q5JRM2	CX066_HUMAN	S	316	ENSP00000359571:R316S	.	R	-	3	2	CXorf66	138865859	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.430000	0.06973	0.378000	0.24764	0.589000	0.80489	AGG		PASS	0.378	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		34	25	34	25	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995703	140995703	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:140995703C>G	ENST00000285879.4	+	4	2799	c.2513C>G	c.(2512-2514)aCt>aGt	p.T838S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	838								p.T838S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCCACTTCATCGAGT	0.552										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2512-2514)ACT>AGT		melanoma antigen family C, 1							130.0	134.0	133.0					X																	140995703		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995703C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2513C>G	X.37:g.140995703C>G	ENSP00000285879:p.Thr838Ser	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.T838S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2799	+	Acute lymphoblastic leukemia(192;6.56e-05)		838					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2513C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	4.929	0.172637	0.09391	.	.	ENSG00000155495	ENST00000285879	T	0.01981	4.52	1.21	-2.41	0.06562	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	B	0.39419	0.299	T	0.46345	-0.9198	9	0.18276	T	0.48	.	3.6496	0.08198	0.251:0.4957:0.2533:0.0	.	838	O60732	MAGC1_HUMAN	S	838	ENSP00000285879:T838S	ENSP00000285879:T838S	T	+	2	0	MAGEC1	140823369	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-1.301000	0.02749	-0.635000	0.05531	0.171000	0.16805	ACT		PASS	0.552	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		44	53	44	53	---	---	---	---
BGN	633	broad.mit.edu	37	X	152773715	152773715	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:152773715C>G	ENST00000331595.4	+	8	1105	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	307					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)	p.L307V(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGTCTATCTGCACTCCAA	0.597																																						uc004fhr.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(919-921)CTG>GTG		biglycan preproprotein							202.0	178.0	186.0					X																	152773715		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773715C>G	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.919C>G	X.37:g.152773715C>G	ENSP00000327336:p.Leu307Val					BGN_uc004fhq.1_RNA	p.L307V	NM_001711	NP_001702	P21810	PGS1_HUMAN			8	1091	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		307			LRR 10.		D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.919C>G	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.961466	0.74016	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.74842	-0.88;-0.88	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86762	0.1967	10	0.87932	D	0	-9.9244	16.5829	0.84719	0.0:1.0:0.0:0.0	.	307	P21810	PGS1_HUMAN	V	307;246;246	ENSP00000327336:L307V;ENSP00000359223:L246V	ENSP00000327336:L307V	L	+	1	2	BGN	152426909	0.997000	0.39634	0.997000	0.53966	0.426000	0.31534	4.695000	0.61767	2.260000	0.74910	0.519000	0.50382	CTG		PASS	0.597	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		67	33	67	33	---	---	---	---
USP9Y	8287	broad.mit.edu	37	Y	14888737	14888737	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrY:14888737A>G	ENST00000338981.3	+	19	3527	c.2582A>G	c.(2581-2583)tAc>tGc	p.Y861C	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	861					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.Y861C(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATAAAAGAGTACATTAATGAA	0.323																																						uc004fst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2581-2583)TAC>TGC		ubiquitin specific protease 9, Y-linked							68.0	66.0	66.0					Y																	14888737		599	1947	2546	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14888737A>G	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2582A>G	Y.37:g.14888737A>G	ENSP00000342812:p.Tyr861Cys					USP9Y_uc010nwu.1_RNA	p.Y861C	NM_004654	NP_004645	O00507	USP9Y_HUMAN			19	3527	+			861					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.2582A>G	CCDS14781.1																																																																																				PASS	0.323	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		14	18	14	18	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74328275	74328275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr2:74328275delG	ENST00000409262.3	+	9	3955	c.3955delG	c.(3955-3957)ggcfs	p.G1319fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1319					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGTGGGTGGCAGCTGGGG	0.602																																						uc002skb.3																			0					0						c.(3955-3957)GGCfs		tet oncogene family member 3							38.0	47.0	44.0					2																	74328275		2044	4183	6227	SO:0001589	frameshift_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74328275delG		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3955delG	2.37:g.74328275delG	ENSP00000386869:p.Gly1319fs						p.G1319fs	NM_144993	NP_659430	O43151	TET3_HUMAN			9	3955	+			1319					A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.3955delG	CCDS46339.1																																																																																					0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			26	22	26	22	---	---	---	---
SEC24B-AS1	100533182	broad.mit.edu	37	4	110268685	110268685	+	RNA	DEL	G	G	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:110268685delG	ENST00000499713.2	-	0	1378									SEC24B antisense RNA 1																		CTTGCCGACAGGGGCTTCCTA	0.507																																						uc003hzi.1																			0													Homo sapiens cDNA FLJ25407 fis, clone TST02904.																																						0							g.chr4:110268685delG	BC009800		4q25	2012-10-12	2012-08-15		ENSG00000247950	ENSG00000247950		"""Long non-coding RNAs"""	44003	non-coding RNA	RNA, long non-coding			"""SEC24B antisense RNA 1 (non-protein coding)"""			21307942	Standard	NR_039978		Approved	1/2-SBSRNA4	uc003hzj.4		OTTHUMG00000161048		4.37:g.110268685delG														8		-									RNA	DEL	ENST00000499713.2	37	c.1379delC																																																																																						0.507	SEC24B-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000363574.2	NR_039978		6	3	6	3	---	---	---	---
LINC01060	401164	broad.mit.edu	37	4	189459065	189459065	+	lincRNA	DEL	T	T	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr4:189459065delT	ENST00000510832.1	+	0	1794									long intergenic non-protein coding RNA 1060																		CCCTGTATGGTTTTTTTTTTT	0.383																																						uc003izp.1																			0													Homo sapiens cDNA FLJ38649 fis, clone HHDPC2007302.																																						0							g.chr4:189459065delT			4q35.2	2013-08-23			ENSG00000249378	ENSG00000249378		"""Long non-coding RNAs"""	49081	non-coding RNA	RNA, long non-coding							Standard	NR_033869		Approved				OTTHUMG00000160242		4.37:g.189459065delT														6		+									RNA	DEL	ENST00000510832.1	37	c.1791delT																																																																																						0.383	LINC01060-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359857.1			4	2	4	2	---	---	---	---
PPP2R5D	5528	broad.mit.edu	37	6	42974327	42974327	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr6:42974327delC	ENST00000485511.1	+	3	411	c.232delC	c.(232-234)cccfs	p.P78fs	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Frame_Shift_Del_p.P70fs|PPP2R5D_ENST00000394110.3_Frame_Shift_Del_p.P78fs	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	78					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCAGGGGGGCCCCAGATTGT	0.597																																					Melanoma(63;587 1613 29742 31770)	uc003oth.2																			0				breast(1)|central_nervous_system(1)	2						c.(232-234)CCCfs		delta isoform of regulatory subunit B56, protein							57.0	65.0	62.0					6																	42974327		2203	4300	6503	SO:0001589	frameshift_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974327delC	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.232delC	6.37:g.42974327delC	ENSP00000417963:p.Pro78fs					MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Frame_Shift_Del_p.P78fs|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	p.P78fs	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	318	+			78					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Frame_Shift_Del	DEL	ENST00000485511.1	37	c.232delC	CCDS4878.1																																																																																					0.597	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		34	31	34	31	---	---	---	---
MAPK15	225689	broad.mit.edu	37	8	144802438	144802438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr8:144802438delC	ENST00000338033.4	+	8	879	c.760delC	c.(760-762)ctgfs	p.L254fs	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Intron|MAPK15_ENST00000395107.4_Frame_Shift_Del_p.L271fs	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGCCTCTGTGCTGCACCAGCT	0.672																																						uc003yzj.2																			0				lung(2)	2						c.(760-762)CTGfs		mitogen-activated protein kinase 15							28.0	25.0	26.0					8																	144802438		2197	4297	6494	SO:0001589	frameshift_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144802438delC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.760delC	8.37:g.144802438delC	ENSP00000337691:p.Leu254fs						p.L254fs	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	801	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		254			Protein kinase.		Q2TCF9|Q8N362	Frame_Shift_Del	DEL	ENST00000338033.4	37	c.760delC	CCDS6409.2																																																																																					0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		11	5	11	5	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130104531	130104533	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr9:130104531_130104533delCAA	ENST00000373387.4	+	14	1521_1523	c.1169_1171delCAA	c.(1168-1173)ccaaca>cca	p.T391del	GARNL3_ENST00000314904.5_In_Frame_Del_p.T391del|GARNL3_ENST00000435213.2_In_Frame_Del_p.T369del	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	391	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTGGAAACCCCAACATTTGCCCA	0.379																																						uc011mae.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1168-1173)CCAACA>CCA		GTPase activating Rap/RanGAP domain-like 3																																				SO:0001651	inframe_deletion	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130104531_130104533delCAA	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1169_1171delCAA	9.37:g.130104531_130104533delCAA	ENSP00000362485:p.Thr391del					GARNL3_uc011mad.1_In_Frame_Del_p.T369del|GARNL3_uc004bqt.1_In_Frame_Del_p.T172del	p.T391del	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			14	1570_1572	+			391			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	In_Frame_Del	DEL	ENST00000373387.4	37	c.1169_1171delCAA	CCDS6869.2																																																																																					0.379	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		35	24	35	24	---	---	---	---
LINC00539	100652865	broad.mit.edu	37	13	21906560	21906560	+	lincRNA	DEL	T	T	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr13:21906560delT	ENST00000434601.3	-	0	388									long intergenic non-protein coding RNA 539																		ATTAAAGTTGTTTCTTTGTCA	0.428																																						uc001unz.1																			0													Homo sapiens cDNA FLJ33446 fis, clone BRAMY1000095.																																						0							g.chr13:21906560delT	BG940872		13q12.11	2013-08-05			ENSG00000244054	ENSG00000224429		"""Long non-coding RNAs"""	43672	non-coding RNA	RNA, long non-coding			"""long intergenic non-protein coding RNA 422"""	LINC00422			Standard	NR_103840		Approved				OTTHUMG00000016541		13.37:g.21906560delT														3		+									RNA	DEL	ENST00000434601.3	37	c.2089delT																																																																																						0.428	LINC00539-004	NOVEL	basic	lincRNA	lincRNA	OTTHUMT00000472271.1			4	2	4	2	---	---	---	---
Unknown	0	broad.mit.edu	37	14	73079701	73079702	+	IGR	INS	-	-	GT	rs375400092|rs371547961|rs149479196|rs143434829|rs59321921|rs71109741		TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr14:73079701_73079702insGT								RP3-514A23.2 (17868 upstream) : DPF3 (6301 downstream)																							TTAAGTAGGGCgtgtgtgtgtg	0.515																																						uc010arh.1																			0													Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																																				SO:0001628	intergenic_variant	0							g.chr14:73079701_73079702insGT																													14.37:g.73079710_73079711dupGT														1		-									RNA	INS		37	c.102_103insAC																																																																																				0		0.515									4	2	4	2	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55361548	55361548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chr16:55361548delG	ENST00000290552.7	+	4	1796	c.464delG	c.(463-465)cggfs	p.R155fs	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGCGACCCGGGAGACCACC	0.562																																						uc002ehy.2																			0				central_nervous_system(5)|ovary(1)	6						c.(463-465)CGGfs		iroquois homeobox protein 6																																				SO:0001589	frameshift_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361548delG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.464delG	16.37:g.55361548delG	ENSP00000290552:p.Arg155fs					IRX6_uc002ehx.2_Frame_Shift_Del_p.R155fs|IRX6_uc010ccb.1_RNA	p.R155fs	NM_024335	NP_077311	P78412	IRX6_HUMAN			4	997	+			155			Homeobox; TALE-type.		B2RN06|Q7Z2K0	Frame_Shift_Del	DEL	ENST00000290552.7	37	c.464delG	CCDS32449.1																																																																																					0.562	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		14	12	14	12	---	---	---	---
TMEM257	9142	broad.mit.edu	37	X	144909203	144909203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3419-01A-01D-0983-08	TCGA-18-3419-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c75ed357-d845-4443-8c9e-a2afa8ed30df	3d42a627-7d26-47b1-865b-99aa0339cf42	g.chrX:144909203delC	ENST00000408967.2	+	1	276	c.8delC	c.(7-9)tccfs	p.S3fs		NM_004709.2	NP_004700.1	O96002	TM257_HUMAN	transmembrane protein 257	3						integral component of membrane (GO:0016021)											TGAATGTATTCCAGACTATTT	0.244																																						uc004fch.2																			0					0						c.(7-9)TCCfs		hypothetical protein LOC9142							20.0	21.0	20.0					X																	144909203		2181	4239	6420	SO:0001589	frameshift_variant	9142							g.chrX:144909203delC	Y08902	CCDS14681.1	Xq27.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000221870	ENSG00000221870			2562	protein-coding gene	gene with protein product		300565	"""chromosome X open reading frame 1"""	CXorf1		9881668	Standard	NM_004709		Approved		uc004fch.3	O96002	OTTHUMG00000159605	ENST00000408967.2:c.8delC	X.37:g.144909203delC	ENSP00000386149:p.Ser3fs						p.S3fs	NM_004709	NP_004700	O96002	CX001_HUMAN			1	276	+	Acute lymphoblastic leukemia(192;6.56e-05)		3					Q14CW0	Frame_Shift_Del	DEL	ENST00000408967.2	37	c.8delC	CCDS14681.1																																																																																					0.244	TMEM257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356465.1	NM_004709		6	4	6	4	---	---	---	---
