#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3686367	3686367	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:3686367G>A	ENST00000294600.2	+	11	1848	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	588								p.K588K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TAAGGAATAAGATCATCCAGG	0.542																																						uc001akv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1762-1764)AAG>AAA		coiled-coil domain containing 27							177.0	141.0	153.0					1																	3686367		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3686367G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1764G>A	1.37:g.3686367G>A						LOC388588_uc001akw.3_5'Flank	p.K588K	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	11	1845	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	588					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1764G>A	CCDS50.1																																																																																				PASS	0.542	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	44	8	44	---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12854302	12854302	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:12854302G>A	ENST00000332296.7	+	3	629	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	176					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G176S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAAGGAGAGGTTTAGTACA	0.408																																						uc001auj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(526-528)GGT>AGT		PRAME family member 1							141.0	148.0	146.0					1																	12854302		2195	4286	6481	SO:0001583	missense	65121							g.chr1:12854302G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.526G>A	1.37:g.12854302G>A	ENSP00000332134:p.Gly176Ser						p.G176S	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	629	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	176					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.526G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123814	0.37436	.	.	ENSG00000116721	ENST00000332296	T	0.00808	5.67	1.74	1.74	0.24563	.	0.452872	0.21823	N	0.068592	T	0.02767	0.0083	L	0.60904	1.88	0.20074	N	0.999932	D	0.76494	0.999	D	0.68353	0.957	T	0.38607	-0.9653	10	0.44086	T	0.13	.	6.9563	0.24574	0.0:0.0:1.0:0.0	.	176	O95521	PRAM1_HUMAN	S	176	ENSP00000332134:G176S	ENSP00000332134:G176S	G	+	1	0	PRAMEF1	12776889	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	0.448000	0.21726	1.273000	0.44346	0.543000	0.68304	GGT		PASS	0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		33	161	33	161	---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16458597	16458597	+	Missense_Mutation	SNP	C	C	T	rs201340421		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:16458597C>T	ENST00000358432.5	-	13	2441	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	763	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V763M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TCCTCCAGCACGCGGGACAGG	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.0					uc001aya.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2287-2289)GTG>ATG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						130.0	115.0	120.0					1																	16458597		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458597C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2287G>A	1.37:g.16458597C>T	ENSP00000351209:p.Val763Met						p.V763M	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2424	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	763			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2287G>A	CCDS169.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	33	5.248541	0.95305	.	.	ENSG00000142627	ENST00000358432	D	0.82711	-1.64	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000080	D	0.87047	0.6080	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.87684	0.2549	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	763	P29317	EPHA2_HUMAN	M	763	ENSP00000351209:V763M	ENSP00000351209:V763M	V	-	1	0	EPHA2	16331184	1.000000	0.71417	0.973000	0.42090	0.936000	0.57629	4.985000	0.63845	2.884000	0.98904	0.655000	0.94253	GTG		PASS	0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		9	39	9	39	---	---	---	---
CELA3A	10136	broad.mit.edu	37	1	22336260	22336260	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:22336260G>T	ENST00000290122.3	+	7	724	c.705G>T	c.(703-705)gtG>gtT	p.V235V	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.V235V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCACGGTGTGACCAGCTTTG	0.592																																						uc001bfl.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(703-705)GTG>GTT		elastase 3A, pancreatic preproprotein							79.0	68.0	72.0					1																	22336260		2197	4300	6497	SO:0001819	synonymous_variant	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22336260G>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.705G>T	1.37:g.22336260G>T							p.V235V	NM_005747	NP_005738	P09093	CEL3A_HUMAN			7	724	+			235			Peptidase S1.		B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	c.705G>T	CCDS220.1																																																																																				PASS	0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		4	25	4	25	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36204180	36204180	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:36204180T>C	ENST00000318121.3	-	21	3491	c.3434A>G	c.(3433-3435)gAt>gGt	p.D1145G	CLSPN_ENST00000251195.5_Missense_Mutation_p.D1145G|CLSPN_ENST00000520551.1_Missense_Mutation_p.D1092G|CLSPN_ENST00000373220.3_Missense_Mutation_p.D1081G|CLSPN_ENST00000466308.1_5'Flank|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1145					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.D1145G(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGGAAGCATCATCTAAACA	0.433																																						uc001bzi.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3433-3435)GAT>GGT		claspin							128.0	108.0	115.0					1																	36204180		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36204180T>C	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3434A>G	1.37:g.36204180T>C	ENSP00000312995:p.Asp1145Gly					CLSPN_uc009vux.2_Missense_Mutation_p.D1081G	p.D1145G	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			21	3514	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1145					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3434A>G	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256122	0.80246	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26067	1.76;1.76;1.79;1.79	6.16	6.16	0.99307	.	0.114491	0.64402	D	0.000017	T	0.44871	0.1314	L	0.50333	1.59	0.47778	D	0.999511	D;D	0.89917	0.999;1.0	D;D	0.76071	0.97;0.987	T	0.35276	-0.9795	10	0.66056	D	0.02	-20.5355	12.9514	0.58403	0.1211:0.0:0.0:0.8789	.	1081;1145	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	G	1145;1145;1081;1092	ENSP00000251195:D1145G;ENSP00000312995:D1145G;ENSP00000362317:D1081G;ENSP00000428848:D1092G	ENSP00000251195:D1145G	D	-	2	0	CLSPN	35976767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.241000	0.58707	2.367000	0.80283	0.528000	0.53228	GAT		PASS	0.433	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		11	34	11	34	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799732	39799732	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:39799732G>T	ENST00000372915.3	+	36	7574	c.7487G>T	c.(7486-7488)aGa>aTa	p.R2496I	MACF1_ENST00000289893.4_Missense_Mutation_p.R931I|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2491I|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2528I|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2496					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.R931T(1)|p.R931I(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)			CTTTTGGAGAGAGAGGAGGCC	0.403																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2791-2793)AGA>ATA		microfilament and actin filament cross-linker							160.0	165.0	163.0					1																	39799732		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.chr1:39799732G>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.7487G>T	1.37:g.39799732G>T	ENSP00000362006:p.Arg2496Ile					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.R931I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2923	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2496					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2792G>T		.	.	.	.	.	.	.	.	.	.	G	9.765	1.171040	0.21621	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69175	-0.38;-0.38	5.38	1.43	0.22495	.	0.713114	0.13729	N	0.366842	T	0.60753	0.2293	M	0.66939	2.045	0.80722	D	1	B	0.16396	0.017	B	0.19391	0.025	T	0.55256	-0.8169	10	0.66056	D	0.02	.	5.7296	0.18032	0.4032:0.0:0.4745:0.1223	.	2496	Q9UPN3	MACF1_HUMAN	I	2496;931	ENSP00000362006:R2496I;ENSP00000289893:R931I	ENSP00000289893:R931I	R	+	2	0	MACF1	39572319	0.990000	0.36364	0.990000	0.47175	0.998000	0.95712	1.382000	0.34374	0.011000	0.14865	0.561000	0.74099	AGA		PASS	0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	99	5	99	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57602295	57602295	+	Missense_Mutation	SNP	C	C	T	rs530738424		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:57602295C>T	ENST00000371231.1	-	3	261	c.227G>A	c.(226-228)cGt>cAt	p.R76H	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.R76H|DAB1_ENST00000414851.2_Missense_Mutation_p.R76H|DAB1_ENST00000371230.1_Missense_Mutation_p.R76H|DAB1_ENST00000439789.2_Missense_Mutation_p.R76H|DAB1_ENST00000371236.2_Missense_Mutation_p.R76H|DAB1_ENST00000420954.2_Missense_Mutation_p.R76H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	76	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.R76H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCCTTTGGAACGAGCGCCAGC	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20740	0.0		0.0	False		,,,				2504	0.0					uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(226-228)CGT>CAT		disabled homolog 1							80.0	77.0	78.0					1																	57602295		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57602295C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.227G>A	1.37:g.57602295C>T	ENSP00000360275:p.Arg76His					DAB1_uc001cyt.1_Missense_Mutation_p.R76H|DAB1_uc001cyq.1_Missense_Mutation_p.R76H|DAB1_uc001cyr.1_Missense_Mutation_p.R76H|DAB1_uc009vzw.1_Missense_Mutation_p.R76H|DAB1_uc009vzx.1_Missense_Mutation_p.R76H	p.R76H	NM_021080	NP_066566	O75553	DAB1_HUMAN			6	901	-			76			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.227G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.927425	0.92389	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.45;2.05;2.45;2.05;2.05	5.96	5.96	0.96718	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.096032	0.85682	D	0.000000	T	0.48750	0.1517	M	0.68317	2.08	0.51482	D	0.999922	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.994;0.989;0.982;0.984;0.987	T	0.39231	-0.9624	10	0.87932	D	0	-22.0236	20.422	0.99049	0.0:1.0:0.0:0.0	.	76;76;76;76;76	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	76	ENSP00000360280:R76H;ENSP00000360278:R76H;ENSP00000395296:R76H;ENSP00000387581:R76H;ENSP00000409328:R76H;ENSP00000360275:R76H;ENSP00000360276:R76H;ENSP00000329120:R76H;ENSP00000360274:R76H	ENSP00000329120:R76H	R	-	2	0	DAB1	57374883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	CGT		PASS	0.403	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		5	20	5	20	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037053	75037053	+	Missense_Mutation	SNP	C	C	G	rs371616918		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:75037053C>G	ENST00000326665.5	-	14	4559	c.4341G>C	c.(4339-4341)gaG>gaC	p.E1447D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1447	Glu-rich.							p.E1447D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCTTGCTCCTGTCCTA	0.587																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4339-4341)GAG>GAC		hypothetical protein LOC127254							97.0	95.0	95.0					1																	75037053		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037053C>G																												ENST00000326665.5:c.4341G>C	1.37:g.75037053C>G	ENSP00000322609:p.Glu1447Asp						p.E1447D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4560	-			1447			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4341G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	1.294	-0.606851	0.03717	.	.	ENSG00000178965	ENST00000326665	T	0.11821	2.74	4.73	-4.92	0.03075	.	.	.	.	.	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46569	-0.9182	9	0.02654	T	1	-4.4883	6.4	0.21632	0.3657:0.3506:0.2837:0.0	.	1447	Q5RHP9	CA173_HUMAN	D	1447	ENSP00000322609:E1447D	ENSP00000322609:E1447D	E	-	3	2	C1orf173	74809641	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	-0.310000	0.08135	-0.731000	0.04862	-0.311000	0.09066	GAG		PASS	0.587	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			11	46	11	46	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77752691	77752691	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:77752691A>C	ENST00000354567.2	+	2	389	c.126A>C	c.(124-126)ttA>ttC	p.L42F	AK5_ENST00000344720.5_Missense_Mutation_p.L16F|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	42					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.L42F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAAGTTGTTTACAAAAAGTAA	0.378																																						uc001dhn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(124-126)TTA>TTC		adenylate kinase 5 isoform 1							88.0	90.0	89.0					1																	77752691		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752691A>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.126A>C	1.37:g.77752691A>C	ENSP00000346577:p.Leu42Phe					AK5_uc001dho.2_Missense_Mutation_p.L16F|AK5_uc001dhm.1_Missense_Mutation_p.L42F	p.L42F	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			2	383	+			42					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.126A>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729311	0.69074	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.89050	-0.84;-1.38;-2.46	5.59	3.28	0.37604	Dpy-30 motif (1);cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.000000	0.64402	D	0.000004	D	0.91801	0.7406	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	D	0.90569	0.4521	10	0.49607	T	0.09	-9.9944	8.3384	0.32228	0.6924:0.0:0.3076:0.0	.	42;42	Q9Y6K8;Q8N291	KAD5_HUMAN;.	F	42;16;16	ENSP00000346577:L42F;ENSP00000341430:L16F;ENSP00000434409:L16F	ENSP00000341430:L16F	L	+	3	2	AK5	77525279	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.503000	0.53340	0.504000	0.28082	0.528000	0.53228	TTA		PASS	0.378	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		9	57	9	57	---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114184866	114184866	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:114184866C>A	ENST00000307546.9	+	10	1769	c.1694C>A	c.(1693-1695)tCc>tAc	p.S565Y	MAGI3_ENST00000369611.4_Missense_Mutation_p.S565Y|MAGI3_ENST00000369617.4_Missense_Mutation_p.S590Y|MAGI3_ENST00000369615.1_Missense_Mutation_p.S565Y	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	590					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.S565Y(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGAGAGTATCCATGGCATCG	0.502																																						uc001edk.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1693-1695)TCC>TAC		membrane-associated guanylate kinase-related  3							116.0	117.0	117.0					1																	114184866		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184866C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1694C>A	1.37:g.114184866C>A	ENSP00000304604:p.Ser565Tyr					MAGI3_uc001edh.3_Missense_Mutation_p.S590Y|MAGI3_uc001edi.3_Missense_Mutation_p.S565Y|MAGI3_uc010owm.1_Missense_Mutation_p.S590Y|MAGI3_uc001edj.2_Missense_Mutation_p.S286Y	p.S565Y	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1875	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	590					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1694C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684060	0.68157	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.48	5.48	0.80851	.	0.160682	0.56097	D	0.000023	T	0.62478	0.2431	M	0.67700	2.07	0.58432	D	0.999992	D;D;D	0.62365	0.99;0.976;0.991	D;P;D	0.65773	0.938;0.63;0.915	T	0.64723	-0.6340	10	0.87932	D	0	-10.4201	19.7148	0.96113	0.0:1.0:0.0:0.0	.	565;565;590	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Y	590;565;565;565	ENSP00000358630:S590Y;ENSP00000304604:S565Y;ENSP00000358628:S565Y;ENSP00000358624:S565Y	ENSP00000304604:S565Y	S	+	2	0	MAGI3	113986389	0.999000	0.42202	1.000000	0.80357	0.829000	0.46940	5.631000	0.67812	2.731000	0.93534	0.650000	0.86243	TCC		PASS	0.502	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		19	99	19	99	---	---	---	---
BCL2L15	440603	broad.mit.edu	37	1	114424399	114424399	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:114424399C>T	ENST00000393316.3	-	3	641	c.470G>A	c.(469-471)gGt>gAt	p.G157D	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	157					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.G157D(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTACCCAACCTCCCTGGCC	0.483																																						uc001edw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GGT>GAT		pro-apoptotic Bcl-2 protein							71.0	73.0	73.0					1																	114424399		2203	4300	6503	SO:0001583	missense	440603				apoptosis			g.chr1:114424399C>T		CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.470G>A	1.37:g.114424399C>T	ENSP00000376992:p.Gly157Asp					uc001edv.1_Intron|BCL2L15_uc001edx.2_Intron|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_RNA	p.G157D	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	642	-	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)	157					A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP	ENST00000393316.3	37	c.470G>A	CCDS30809.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964057	0.92791	.	.	ENSG00000188761	ENST00000393316	T	0.29655	1.56	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17107	-1.0380	10	0.72032	D	0.01	.	18.6329	0.91366	0.0:1.0:0.0:0.0	.	157	Q5TBC7	B2L15_HUMAN	D	157	ENSP00000376992:G157D	ENSP00000376992:G157D	G	-	2	0	BCL2L15	114225922	0.999000	0.42202	0.998000	0.56505	0.965000	0.64279	4.227000	0.58612	2.937000	0.99478	0.650000	0.86243	GGT		PASS	0.483	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922		13	19	13	19	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117559924	117559924	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:117559924C>A	ENST00000256652.4	+	5	1499	c.1441C>A	c.(1441-1443)Cat>Aat	p.H481N	CD101_ENST00000369470.1_Missense_Mutation_p.H481N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	481	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.H481N(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACCCAGTTACCATGGCAACAC	0.572																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1441-1443)CAT>AAT		immunoglobulin superfamily, member 2 precursor							104.0	95.0	98.0					1																	117559924		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117559924C>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1441C>A	1.37:g.117559924C>A	ENSP00000256652:p.His481Asn					CD101_uc009whd.2_Missense_Mutation_p.H481N|CD101_uc010oxc.1_Missense_Mutation_p.H481N|CD101_uc010oxd.1_Missense_Mutation_p.H419N	p.H481N	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			5	1499	+			481			Extracellular (Potential).|Ig-like C2-type 4.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1441C>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985492	0.18889	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.20463	2.07;2.07	4.62	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.961689	0.08641	N	0.915507	T	0.06917	0.0176	L	0.44542	1.39	0.09310	N	1	B	0.33777	0.425	B	0.30855	0.121	T	0.31110	-0.9955	10	0.28530	T	0.3	-0.0485	8.4569	0.32903	0.0:0.8942:0.0:0.1058	.	481	Q93033	IGSF2_HUMAN	N	481	ENSP00000256652:H481N;ENSP00000358482:H481N	ENSP00000256652:H481N	H	+	1	0	CD101	117361447	0.000000	0.05858	0.002000	0.10522	0.841000	0.47740	-0.096000	0.11059	1.283000	0.44513	0.655000	0.94253	CAT		PASS	0.572	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		6	149	6	149	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118039520	118039520	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:118039520G>T	ENST00000356554.3	+	10	2155	c.1420G>T	c.(1420-1422)Ggt>Tgt	p.G474C		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	474					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G474C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGGAGCAGATGGTTCCAGAGC	0.423																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)GGT>TGT		mannosidase, alpha, class 1A, member 2							112.0	111.0	112.0					1																	118039520		2203	4300	6503	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118039520G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1420G>T	1.37:g.118039520G>T	ENSP00000348959:p.Gly474Cys					MAN1A2_uc009whg.1_Missense_Mutation_p.G264C	p.G474C	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	10	2141	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	474			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.1420G>T	CCDS895.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.62|16.62|16.62	3.174893|3.174893|3.174893	0.57692|0.57692|0.57692	.|.|.	.|.|.	ENSG00000198162|ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000329466|ENST00000449370|ENST00000421535	T|.|.	0.72282|.|.	-0.64|.|.	5.6|5.6|5.6	5.6|5.6|5.6	0.85130|0.85130|0.85130	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.72431|0.72431|0.72431	0.3459|0.3459|0.3459	M|M|M	0.77712|0.77712|0.77712	2.385|2.385|2.385	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.28971|.|.	0.069;0.229|.|.	B;B|.|.	0.29716|.|.	0.067;0.106|.|.	T|T|T	0.71705|0.71705|0.71705	-0.4512|-0.4512|-0.4512	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-15.7546|-15.7546|-15.7546	17.4647|17.4647|17.4647	0.87629|0.87629|0.87629	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	238;474|.|.	A6NLR2;O60476|.|.	.;MA1A2_HUMAN|.|.	C|I|L	474;238;8|206|40	ENSP00000348959:G474C|.|.	ENSP00000358462:G8C|.|.	G|M|W	+|+|+	1|3|2	0|0|0	MAN1A2|MAN1A2|MAN1A2	117841043|117841043|117841043	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.918000|0.918000|0.918000	0.54935|0.54935|0.54935	9.740000|9.740000|9.740000	0.98839|0.98839|0.98839	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|ATG|TGG		PASS	0.423	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		7	133	7	133	---	---	---	---
HMGCS2	3158	broad.mit.edu	37	1	120293471	120293471	+	Missense_Mutation	SNP	C	C	G	rs587593961		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:120293471C>G	ENST00000369406.3	-	9	1530	c.1481G>C	c.(1480-1482)cGa>cCa	p.R494P	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R452P	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	494					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R494P(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CTCGTCCACTCGCTCCAGGTA	0.512																																						uc001eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1480-1482)CGA>CCA		hydroxymethylglutaryl-CoA synthase 2 isoform 1							77.0	67.0	71.0					1																	120293471		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120293471C>G	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1481G>C	1.37:g.120293471C>G	ENSP00000358414:p.Arg494Pro					HMGCS2_uc010oxj.1_Missense_Mutation_p.R452P|HMGCS2_uc001eie.2_Missense_Mutation_p.R402P	p.R494P	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	9	1532	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	494					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.1481G>C	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119037	0.56505	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.77229	-1.08;-1.08	5.3	0.203	0.15195	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.630492	0.14933	N	0.289963	T	0.73590	0.3606	M	0.70595	2.14	0.36476	D	0.867544	P;P	0.50617	0.937;0.885	P;P	0.54210	0.745;0.626	T	0.72858	-0.4165	10	0.56958	D	0.05	-0.9426	9.2302	0.37432	0.0:0.6239:0.0:0.3761	.	452;494	B7Z8R3;P54868	.;HMCS2_HUMAN	P	494;452	ENSP00000358414:R494P;ENSP00000439495:R452P	ENSP00000358414:R494P	R	-	2	0	HMGCS2	120094994	0.833000	0.29383	0.988000	0.46212	0.601000	0.36947	0.944000	0.29043	0.062000	0.16340	-0.291000	0.09656	CGA		PASS	0.512	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		3	44	3	44	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144912276	144912276	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:144912276C>G	ENST00000369354.3	-	15	2188	c.1999G>C	c.(1999-2001)Gtg>Ctg	p.V667L	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V830L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V804L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V804L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.V667L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V667L|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.V830L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.V733L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.V454L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	667					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.V667L(3)|p.V830L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCTTGCACCAACTTCTCT	0.383			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		4	Substitution - Missense(4)	p.V667L(1)	lung(3)|ovary(1)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1999-2001)GTG>CTG		phosphodiesterase 4D interacting protein isoform							70.0	65.0	67.0					1																	144912276		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144912276C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1999G>C	1.37:g.144912276C>G	ENSP00000358360:p.Val667Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V733L|PDE4DIP_uc001emc.1_Missense_Mutation_p.V667L|PDE4DIP_uc001emd.1_Missense_Mutation_p.V667L|PDE4DIP_uc001emb.1_Missense_Mutation_p.V830L|PDE4DIP_uc001eme.1_Missense_Mutation_p.V196L|PDE4DIP_uc001emf.1_Missense_Mutation_p.V452L	p.V667L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	15	2290	-			667			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1999G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354191	0.61293	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.56444	4.7;4.79;4.79;4.8;4.79;3.8;3.8;2.72;2.72;0.46	5.53	5.53	0.82687	.	.	.	.	.	T	0.50274	0.1606	L	0.57536	1.79	0.80722	D	1	P;D;P;D;P;D	0.63046	0.891;0.958;0.582;0.958;0.901;0.992	P;P;B;P;P;P	0.56163	0.487;0.793;0.188;0.793;0.545;0.712	T	0.41502	-0.9505	9	0.16896	T	0.51	.	15.0248	0.71659	0.0:1.0:0.0:0.0	.	830;454;667;830;733;667	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	L	733;667;667;830;804;804;667;667;830;830;454	ENSP00000327209:V733L;ENSP00000358360:V667L;ENSP00000358363:V667L;ENSP00000435654:V804L;ENSP00000358366:V804L;ENSP00000358357:V667L;ENSP00000358355:V667L;ENSP00000316434:V830L;ENSP00000433392:V830L;ENSP00000436791:V454L	ENSP00000327209:V733L	V	-	1	0	PDE4DIP	143623633	0.987000	0.35691	0.996000	0.52242	0.676000	0.39594	2.220000	0.42908	2.624000	0.88883	0.650000	0.86243	GTG		PASS	0.383	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	59	4	59	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187842	152187842	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:152187842G>C	ENST00000368801.2	-	3	6338	c.6263C>G	c.(6262-6264)tCc>tGc	p.S2088C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2088					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2088C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCGACCGGAGCCAGACCC	0.617																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(6262-6264)TCC>TGC		hornerin							32.0	24.0	26.0					1																	152187842		2184	4276	6460	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187842G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6263C>G	1.37:g.152187842G>C	ENSP00000357791:p.Ser2088Cys						p.S2088C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6339	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2088			23.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6263C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	3.814	-0.039035	0.07497	.	.	ENSG00000197915	ENST00000368801	T	0.03212	4.01	3.68	0.649	0.17806	.	.	.	.	.	T	0.02807	0.0084	L	0.55990	1.75	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.40156	-0.9578	9	0.52906	T	0.07	.	5.8601	0.18743	0.0971:0.0:0.5676:0.3354	.	2088	Q86YZ3	HORN_HUMAN	C	2088	ENSP00000357791:S2088C	ENSP00000357791:S2088C	S	-	2	0	HRNR	150454466	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.038000	0.15604	-1.116000	0.02052	TCC		PASS	0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		31	90	31	90	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281741	152281741	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:152281741G>A	ENST00000368799.1	-	3	5656	c.5621C>T	c.(5620-5622)tCa>tTa	p.S1874L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1874	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1874L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTTCTC	0.572									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5620-5622)TCA>TTA		filaggrin							311.0	311.0	311.0					1																	152281741		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281741G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5621C>T	1.37:g.152281741G>A	ENSP00000357789:p.Ser1874Leu						p.S1874L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5657	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1874			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5621C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842309	0.32513	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.04049	3.72	2.31	2.31	0.28768	.	.	.	.	.	T	0.09247	0.0228	M	0.80616	2.505	0.09310	N	1	D	0.54601	0.967	D	0.63597	0.916	T	0.06991	-1.0796	9	0.72032	D	0.01	-2.117	8.1266	0.31003	0.0:0.0:1.0:0.0	.	1874	P20930	FILA_HUMAN	L	1874;109	ENSP00000357789:S1874L	ENSP00000271820:S109L	S	-	2	0	FLG	150548365	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.196000	0.17176	1.294000	0.44707	0.586000	0.80456	TCA		PASS	0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		106	240	106	240	---	---	---	---
LCE1E	353135	broad.mit.edu	37	1	152759781	152759781	+	Silent	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:152759781C>G	ENST00000368770.3	+	2	59	c.6C>G	c.(4-6)tcC>tcG	p.S2S	LCE1E_ENST00000368771.1_Silent_p.S2S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	2					keratinization (GO:0031424)			p.S2S(1)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGAGATGTCCTGCCAGCAGA	0.592																																						uc001fan.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)TCC>TCG		late cornified envelope 1E							134.0	144.0	140.0					1																	152759781		2203	4300	6503	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152759781C>G	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.6C>G	1.37:g.152759781C>G							p.S2S	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	59	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		2					D3DV30	Silent	SNP	ENST00000368770.3	37	c.6C>G	CCDS1024.1																																																																																				PASS	0.592	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		18	168	18	168	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154098875	154098876	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:154098875_154098876CC>AA	ENST00000368559.3	-	10	1320_1321	c.1249_1250GG>TT	c.(1249-1251)GGa>TTa	p.G417L	NUP210L_ENST00000271854.3_Missense_Mutation_p.G417L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	417					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.G417*(1)|p.G417V(1)|p.G417L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATGGTAAGATCCATTCACGGTA	0.396																																						uc001fdw.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1249-1251)GGA>GTA|c.(1249-1251)GGA>TGA		nucleoporin 210kDa-like isoform 1																																				SO:0001583	missense	91181					integral to membrane		g.chr1:154098875C>A|g.chr1:154098876C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1249_1250delinsAA	1.37:g.154098875_154098876delinsAA	ENSP00000357547:p.Gly417Leu					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G417V|NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Nonsense_Mutation_p.G417*	p.G417V|p.G417*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		10	1322|1321	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		417					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000368559.3	37	c.1250G>T|c.1249G>T	CCDS41399.1																																																																																				PASS	0.396	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		17	56|57	17	56	---	---	---	---
FLAD1	80308	broad.mit.edu	37	1	154962919	154962919	+	Missense_Mutation	SNP	G	G	A	rs201707334		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:154962919G>A	ENST00000292180.3	+	5	1791	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q	FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.R393Q|FLAD1_ENST00000368428.1_Missense_Mutation_p.R31Q|FLAD1_ENST00000315144.10_Missense_Mutation_p.R393Q|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	490	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.R490Q(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCACCCGCCGGACTGACCCC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15886	0.0		0.0	False		,,,				2504	0.0					uc001fgf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1468-1470)CGG>CAG		flavin adenine dinucleotide synthetase isoform							47.0	50.0	49.0					1																	154962919		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962919G>A		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1469G>A	1.37:g.154962919G>A	ENSP00000292180:p.Arg490Gln					FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Missense_Mutation_p.R393Q|FLAD1_uc001fgg.1_Missense_Mutation_p.R393Q|FLAD1_uc001fgh.1_Intron	p.R490Q	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	1823	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		490			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1469G>A	CCDS1078.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.05	3.752570	0.69533	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	5.46	4.55	0.56014	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.91038	3.17	0.80722	D	1	B	0.29862	0.259	B	0.31946	0.138	T	0.67803	-0.5576	9	0.33141	T	0.24	-25.0229	14.24	0.65952	0.072:0.0:0.928:0.0	.	490	Q8NFF5	FAD1_HUMAN	Q	393;393;490;31	.	ENSP00000292180:R490Q	R	+	2	0	FLAD1	153229543	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	9.167000	0.94773	1.540000	0.49301	0.655000	0.94253	CGG		PASS	0.622	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		4	24	4	24	---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155921325	155921325	+	Splice_Site	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:155921325C>A	ENST00000361247.4	-	19	2308		c.e19-1		ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.4_Splice_Site|ARHGEF2_ENST00000462460.2_Splice_Site|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000368316.1_Splice_Site	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTAACGCCTCCTGAGGACAGA	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e19-1		Rho/Rac guanine nucleotide exchange factor 2							111.0	108.0	109.0					1																	155921325		2203	4300	6503	SO:0001630	splice_region_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155921325C>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2209-1G>T	1.37:g.155921325C>A						ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.E709_splice|ARHGEF2_uc001fms.2_Splice_Site_p.E736_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.E781_splice	p.E737_splice	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			19	2327	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)							D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Splice_Site	SNP	ENST00000361247.4	37	c.2209_splice	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346993	0.61183	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF2	154187949	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.321000	0.59209	2.713000	0.92767	0.655000	0.94253	.		PASS	0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	Intron	6	100	6	100	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156507028	156507028	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:156507028G>A	ENST00000361170.2	-	27	3377	c.3367C>T	c.(3367-3369)Ctc>Ttc	p.L1123F	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1123	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.L1123F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCATGGCGAGGAGGTTGCGT	0.552																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3367-3369)CTC>TTC		IQ motif containing GTPase activating protein 3							164.0	134.0	144.0					1																	156507028		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156507028G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3367C>T	1.37:g.156507028G>A	ENSP00000354451:p.Leu1123Phe						p.L1123F	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			27	3442	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1123			Ras-GAP.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3367C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041364	0.75732	.	.	ENSG00000183856	ENST00000361170	T	0.79940	-1.32	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.269330	0.33792	N	0.004541	T	0.79919	0.4529	L	0.44542	1.39	0.34683	D	0.72494	D	0.71674	0.998	D	0.63113	0.911	T	0.82804	-0.0276	10	0.72032	D	0.01	-17.7492	12.0284	0.53384	0.0:0.0:0.8274:0.1726	.	1123	Q86VI3	IQGA3_HUMAN	F	1123	ENSP00000354451:L1123F	ENSP00000354451:L1123F	L	-	1	0	IQGAP3	154773652	0.816000	0.29132	0.993000	0.49108	0.944000	0.59088	2.126000	0.42026	2.566000	0.86566	0.561000	0.74099	CTC		PASS	0.552	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		43	32	43	32	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151308	158151308	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:158151308C>A	ENST00000368171.3	+	3	624	c.125C>A	c.(124-126)aCg>aAg	p.T42K		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	42					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.T42K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCAGCTGGACGCGCACCGAC	0.632																																						uc001frr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(124-126)ACG>AAG		CD1D antigen precursor							127.0	142.0	137.0					1																	158151308		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151308C>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.125C>A	1.37:g.158151308C>A	ENSP00000357153:p.Thr42Lys					CD1D_uc009wsr.1_Missense_Mutation_p.T42K|CD1D_uc009wss.2_Missense_Mutation_p.T42K|CD1D_uc009wst.1_5'UTR	p.T42K	NM_001766	NP_001757	P15813	CD1D_HUMAN			3	624	+	all_hematologic(112;0.0378)		42			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.125C>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706012	0.30232	.	.	ENSG00000158473	ENST00000368171	T	0.06849	3.25	4.23	-2.23	0.06930	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.634320	0.03383	N	0.200661	T	0.02156	0.0067	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	B	0.38156	0.266	T	0.38779	-0.9645	10	0.39692	T	0.17	0.251	4.2267	0.10584	0.1623:0.3637:0.0:0.474	.	42	P15813	CD1D_HUMAN	K	42	ENSP00000357153:T42K	ENSP00000357153:T42K	T	+	2	0	CD1D	156417932	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.812000	0.04496	-0.316000	0.08690	-0.140000	0.14226	ACG		PASS	0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		95	84	95	84	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158609467	158609467	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:158609467A>G	ENST00000368147.4	-	35	5065	c.4885T>C	c.(4885-4887)Ttg>Ctg	p.L1629L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1629					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.L1629L(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)					ATGGCCAGCAATGTCTCTGCC	0.468																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4885-4887)TTG>CTG		spectrin, alpha, erythrocytic 1							127.0	117.0	120.0					1																	158609467		1889	4125	6014	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609467A>G	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.4885T>C	1.37:g.158609467A>G							p.L1629L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			35	5084	-	all_hematologic(112;0.0378)		1629			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4885T>C	CCDS41423.1																																																																																				PASS	0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		27	62	27	62	---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163138133	163138133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:163138133C>A	ENST00000313961.5	-	2	347	c.70G>T	c.(70-72)Gga>Tga	p.G24*	RGS5_ENST00000367903.3_Nonsense_Mutation_p.G44*|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Nonsense_Mutation_p.G24*|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	24					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G24*(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AGGAGAATTCCCAACTTGATC	0.448																																						uc001gcn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(70-72)GGA>TGA		regulator of G-protein signalling 5							183.0	176.0	179.0					1																	163138133		2203	4300	6503	SO:0001587	stop_gained	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163138133C>A	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.70G>T	1.37:g.163138133C>A	ENSP00000319308:p.Gly24*					RGS5_uc009wvb.2_Intron	p.G24*	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		2	317	-			24					E9PMP5|Q53XA9|Q599J0	Nonsense_Mutation	SNP	ENST00000313961.5	37	c.70G>T	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	39	7.795518	0.98495	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.5264	0.87801	0.0:1.0:0.0:0.0	.	.	.	.	X	24;44;24	.	ENSP00000319308:G24X	G	-	1	0	RGS5	161404757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.333000	0.72939	2.732000	0.93576	0.557000	0.71058	GGA		PASS	0.448	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		6	132	6	132	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171303694	171303694	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:171303694G>C	ENST00000367749.3	+	8	1302	c.972G>C	c.(970-972)gtG>gtC	p.V324V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	324					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.V324V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGATGTTGTGATCTTCACTA	0.373																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|skin(1)	3						c.(970-972)GTG>GTC		flavin containing monooxygenase 4							95.0	97.0	96.0					1																	171303694		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303694G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.972G>C	1.37:g.171303694G>C							p.V324V	NM_002022	NP_002013	P31512	FMO4_HUMAN			8	1189	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		324					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.972G>C	CCDS1295.1																																																																																				PASS	0.373	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		8	98	8	98	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171303698	171303698	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:171303698T>G	ENST00000367749.3	+	8	1306	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	326					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F326V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTGATCTTCACTACAGG	0.363																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(976-978)TTC>GTC		flavin containing monooxygenase 4							95.0	98.0	97.0					1																	171303698		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303698T>G	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.976T>G	1.37:g.171303698T>G	ENSP00000356723:p.Phe326Val						p.F326V	NM_002022	NP_002013	P31512	FMO4_HUMAN			8	1193	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		326					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.976T>G	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672698	0.88445	.	.	ENSG00000076258	ENST00000367749	T	0.62364	0.03	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.82823	2.61	0.58432	D	0.999993	D	0.65815	0.995	D	0.75484	0.986	T	0.81380	-0.0959	10	0.87932	D	0	-22.8878	15.4883	0.75584	0.0:0.0:0.0:1.0	.	326	P31512	FMO4_HUMAN	V	326	ENSP00000356723:F326V	ENSP00000356723:F326V	F	+	1	0	FMO4	169570322	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.893000	0.87330	2.127000	0.65507	0.528000	0.53228	TTC		PASS	0.363	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		7	96	7	96	---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176012899	176012899	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:176012899C>A	ENST00000367669.3	-	13	1991	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C	RFWD2_ENST00000308769.8_Missense_Mutation_p.G469C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	493					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.G493C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATAACAGTGCCTTCATAATCA	0.328																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)GGC>TGC		ring finger and WD repeat domain 2 isoform a							200.0	205.0	203.0					1																	176012899		2203	4298	6501	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176012899C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1477G>T	1.37:g.176012899C>A	ENSP00000356641:p.Gly493Cys					RFWD2_uc001gkv.1_Missense_Mutation_p.G469C|RFWD2_uc001gkw.1_Missense_Mutation_p.G253C|RFWD2_uc009wwv.2_Missense_Mutation_p.G292C|RFWD2_uc001gkt.1_Missense_Mutation_p.G332C	p.G493C	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			13	1733	-			493			WD 2.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1477G>T	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.264139|4.264139	0.80358|0.80358	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769|ENST00000459744	T;T;T|.	0.62639|.	0.01;0.01;0.01|.	5.76|5.76	4.84|4.84	0.62591|0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78935|0.78935	0.4362|0.4362	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.997;0.951;0.999|.	T|T	0.81714|0.81714	-0.0807|-0.0807	10|5	0.87932|.	D|.	0|.	-4.1363|-4.1363	16.4217|16.4217	0.83760|0.83760	0.0:0.8679:0.1321:0.0|0.0:0.8679:0.1321:0.0	.|.	268;253;469;493;493|.	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6|.	.;.;.;RFWD2_HUMAN;.|.	C|N	268;493;328;469|212	ENSP00000356641:G493C;ENSP00000356638:G328C;ENSP00000310943:G469C|.	ENSP00000310943:G469C|.	G|K	-|-	1|3	0|2	RFWD2|RFWD2	174279522|174279522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.473000|7.473000	0.81007|0.81007	1.417000|1.417000	0.47077|0.47077	-0.302000|-0.302000	0.09304|0.09304	GGC|AAG		PASS	0.328	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		7	192	7	192	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178425846	178425846	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:178425846C>A	ENST00000462775.1	+	11	1904	c.1779C>A	c.(1777-1779)tcC>tcA	p.S593S	RASAL2_ENST00000448150.3_Silent_p.S723S|RASAL2_ENST00000367649.3_Intron	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	593					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.S593S(1)|p.?(1)|p.S723S(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTGAAAATTCCTTCCTACAGG	0.468																																						uc001glr.2																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(1777-1779)TCC>TCA		RAS protein activator like 2 isoform 1							209.0	221.0	217.0					1																	178425846		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425846C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1779C>A	1.37:g.178425846C>A						RASAL2_uc001glq.2_Intron|RASAL2_uc009wxc.2_Silent_p.S107S	p.S593S	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			11	1904	+			593					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.1779C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	5.683	0.310553	0.10733	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.74329	0.3702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74019	-0.3799	4	.	.	.	.	18.3802	0.90448	0.0:1.0:0.0:0.0	.	.	.	.	I	144	.	.	L	+	1	0	RASAL2	176692469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.479000	0.60236	2.315000	0.78130	0.655000	0.94253	CTT		PASS	0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		9	336	9	336	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185270621	185270621	+	Silent	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:185270621A>C	ENST00000367498.3	-	9	1462	c.840T>G	c.(838-840)gcT>gcG	p.A280A	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.A62A	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	280	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.A280A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTGTACTGTAGCATTTGGAG	0.398																																						uc001grl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(838-840)GCT>GCG		influenza virus NS1A binding protein							230.0	212.0	218.0					1																	185270621		2203	4300	6503	SO:0001819	synonymous_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185270621A>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.840T>G	1.37:g.185270621A>C						IVNS1ABP_uc001gri.2_5'UTR|IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Silent_p.A62A|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_5'UTR	p.A280A	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			9	1463	-			280			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	c.840T>G	CCDS1368.1																																																																																				PASS	0.398	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		37	69	37	69	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190195245	190195245	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:190195245A>T	ENST00000367462.3	-	6	1159	c.928T>A	c.(928-930)Tgg>Agg	p.W310R	BRINP3_ENST00000463404.1_5'UTR|BRINP3_ENST00000534846.1_Missense_Mutation_p.W208R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	310					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.W310R(1)									TAAGCTTTCCAGGTTTCAGTT	0.368																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(928-930)TGG>AGG		family with sequence similarity 5, member C							69.0	66.0	67.0					1																	190195245		2203	4299	6502	SO:0001583	missense	339479					extracellular region		g.chr1:190195245A>T	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.928T>A	1.37:g.190195245A>T	ENSP00000356432:p.Trp310Arg					FAM5C_uc010pot.1_Missense_Mutation_p.W208R	p.W310R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	1160	-	Prostate(682;0.198)		310					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.928T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.288937	0.80914	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22539	2.2;1.95	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.45396	-0.9264	10	0.87932	D	0	.	14.5927	0.68378	1.0:0.0:0.0:0.0	.	208;310	B7Z260;Q76B58	.;FAM5C_HUMAN	R	310;208	ENSP00000356432:W310R;ENSP00000438022:W208R	ENSP00000356432:W310R	W	-	1	0	FAM5C	188461868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.829000	0.92055	2.326000	0.78906	0.533000	0.62120	TGG		PASS	0.368	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		22	18	22	18	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203191413	203191413	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:203191413C>A	ENST00000367229.1	-	7	680	c.646G>T	c.(646-648)Ggc>Tgc	p.G216C	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.G197C|CHIT1_ENST00000535569.1_Missense_Mutation_p.G207C	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	216					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.G216C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCCAAGAGCCATGGAAGTCG	0.562																																						uc001gzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GGC>TGC		chitotriosidase precursor							92.0	75.0	80.0					1																	203191413		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203191413C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.646G>T	1.37:g.203191413C>A	ENSP00000356198:p.Gly216Cys					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.G7C|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G207C	p.G216C	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			7	742	-			216					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.646G>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540582	0.65085	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.51817	0.69;0.69;0.69	5.0	3.1	0.35709	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.231610	0.30584	N	0.009316	T	0.79021	0.4376	H	0.99090	4.425	0.51233	D	0.999919	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.80681	-0.1274	10	0.87932	D	0	-2.8764	8.4587	0.32915	0.0:0.8052:0.0:0.1948	.	216;207;216	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	C	216;197;207	ENSP00000356198:G216C;ENSP00000255427:G197C;ENSP00000438078:G207C	ENSP00000255427:G197C	G	-	1	0	CHIT1	201458036	0.974000	0.33945	0.927000	0.36925	0.820000	0.46376	2.416000	0.44644	0.476000	0.27440	0.655000	0.94253	GGC		PASS	0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		13	25	13	25	---	---	---	---
LAX1	54900	broad.mit.edu	37	1	203740494	203740494	+	Splice_Site	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:203740494G>T	ENST00000442561.2	+	3	589		c.e3-1		LAX1_ENST00000367217.5_Splice_Site|LAX1_ENST00000367215.1_Splice_Site	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1						antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.?(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCTTGCAGGACAAGTTCC	0.507																																						uc001haa.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)	2						c.e3-1		lymphocyte transmembrane adaptor 1 isoform a							220.0	212.0	215.0					1																	203740494		2203	4300	6503	SO:0001630	splice_region_variant	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203740494G>T	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.200-1G>T	1.37:g.203740494G>T						LAX1_uc010pql.1_Splice_Site_p.R51_splice|LAX1_uc001hab.2_Splice_Site	p.R67_splice	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	610	+	all_cancers(21;0.0915)							B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Splice_Site	SNP	ENST00000442561.2	37	c.200_splice	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076944	0.55753	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3431	0.74314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAX1	202007117	0.997000	0.39634	0.514000	0.27761	0.312000	0.27988	4.366000	0.59492	2.679000	0.91253	0.655000	0.94253	.		PASS	0.507	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773	Intron	7	284	7	284	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216262403	216262403	+	Missense_Mutation	SNP	T	T	C	rs397518017		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:216262403T>C	ENST00000307340.3	-	23	5223	c.4837A>G	c.(4837-4839)Att>Gtt	p.I1613V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I1613V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1613	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I1613V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATGCCTAATAGCAATTATT	0.368										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4837-4839)ATT>GTT		usherin isoform B							214.0	195.0	201.0					1																	216262403		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216262403T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4837A>G	1.37:g.216262403T>C	ENSP00000305941:p.Ile1613Val	HNSCC(13;0.011)					p.I1613V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	23	5224	-			1613			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4837A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	0.064	-1.217155	0.01542	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.76968	-1.06;-1.06	5.8	1.93	0.25924	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.349316	0.20134	N	0.098529	T	0.48484	0.1502	N	0.02916	-0.46	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.32455	-0.9906	10	0.25106	T	0.35	.	4.8585	0.13571	0.1281:0.2963:0.0:0.5756	.	1613	O75445	USH2A_HUMAN	V	1613	ENSP00000305941:I1613V;ENSP00000355910:I1613V	ENSP00000305941:I1613V	I	-	1	0	USH2A	214329026	0.067000	0.21026	0.033000	0.17914	0.646000	0.38490	-0.020000	0.12525	0.061000	0.16311	0.533000	0.62120	ATT		PASS	0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	104	9	104	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220179558	220179558	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:220179558T>C	ENST00000366923.3	-	15	2109	c.1840A>G	c.(1840-1842)Aca>Gca	p.T614A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	614	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.T614A(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AGAGCATGTGTAGTCTCTGCA	0.388																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1840-1842)ACA>GCA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						193.0	176.0	182.0					1																	220179558		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220179558T>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1840A>G	1.37:g.220179558T>C	ENSP00000355890:p.Thr614Ala					EPRS_uc010puf.1_Missense_Mutation_p.T365A|EPRS_uc001hlz.1_Missense_Mutation_p.T621A|EPRS_uc009xdt.1_Intron	p.T614A	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	15	2110	-			614			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1840A>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	2.757	-0.258656	0.05791	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.05786	3.39	5.53	-3.51	0.04696	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.909002	0.09687	N	0.768983	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.48340	-0.9044	10	0.13108	T	0.6	1.5806	8.0615	0.30635	0.0:0.2598:0.1952:0.545	.	638;621;614	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	A	614;621;638	ENSP00000355890:T614A	ENSP00000355890:T614A	T	-	1	0	EPRS	218246181	0.000000	0.05858	0.000000	0.03702	0.631000	0.37964	-1.063000	0.03465	-0.217000	0.10033	0.460000	0.39030	ACA		PASS	0.388	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		23	69	23	69	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222835412	222835412	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:222835412C>A	ENST00000344922.5	+	25	5153	c.5128C>A	c.(5128-5130)Cct>Act	p.P1710T	MIA3_ENST00000340535.7_Missense_Mutation_p.P588T|MIA3_ENST00000344441.6_Missense_Mutation_p.P1710T|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1710	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P1710T(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTGGACGGGCCTCTACCTCA	0.433																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(5128-5130)CCT>ACT		melanoma inhibitory activity family, member 3							73.0	73.0	73.0					1																	222835412		1882	4097	5979	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835412C>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5128C>A	1.37:g.222835412C>A	ENSP00000340900:p.Pro1710Thr					MIA3_uc001hnm.2_Missense_Mutation_p.P588T	p.P1710T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	25	5137	+			1710			Pro-rich.|Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5128C>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704956	0.30232	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.66460	-0.21;-0.21;-0.21	5.01	4.1	0.47936	.	.	.	.	.	T	0.60157	0.2247	L	0.60455	1.87	0.36573	D	0.873086	B;B	0.27229	0.004;0.172	B;B	0.22753	0.009;0.041	T	0.62286	-0.6886	9	0.28530	T	0.3	.	12.13	0.53938	0.0:0.9199:0.0:0.0801	.	588;1710	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1710;1710;1651;588;588	ENSP00000340900:P1710T;ENSP00000340587:P1710T;ENSP00000345866:P588T	ENSP00000284471:P588T	P	+	1	0	MIA3	220902035	0.612000	0.27000	0.009000	0.14445	0.025000	0.11179	1.240000	0.32731	1.240000	0.43803	0.655000	0.94253	CCT		PASS	0.433	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		11	59	11	59	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223396739	223396739	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:223396739G>T	ENST00000343846.3	-	7	1929	c.1296C>A	c.(1294-1296)agC>agA	p.S432R	SUSD4_ENST00000484758.2_Missense_Mutation_p.S363R|SUSD4_ENST00000454695.2_Missense_Mutation_p.S272R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.S432R|SUSD4_ENST00000494793.2_Missense_Mutation_p.S432R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	432						integral component of membrane (GO:0016021)		p.S432R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCTGAGACGCTGTCACAGG	0.617																																						uc001hnx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)AGC>AGA		sushi domain containing 4 isoform a							49.0	56.0	54.0					1																	223396739		2009	4160	6169	SO:0001583	missense	55061					integral to membrane		g.chr1:223396739G>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1296C>A	1.37:g.223396739G>T	ENSP00000344219:p.Ser432Arg					SUSD4_uc001hny.3_Missense_Mutation_p.S432R|SUSD4_uc010puw.1_Missense_Mutation_p.S272R	p.S432R	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1930	-			432			Cytoplasmic (Potential).		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.1296C>A	CCDS41471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.213935|2.213935	0.39102|0.39102	.|.	.|.	ENSG00000143502|ENSG00000143502	ENST00000271787|ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	.|T;T;T	.|0.36340	.|1.26;1.26;1.36	5.16|5.16	-1.58|-1.58	0.08479|0.08479	.|.	.|0.101764	.|0.44097	.|D	.|0.000496	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D	.|0.59767	.|0.986	.|P	.|0.56916	.|0.809	T|T	0.27502|0.27502	-1.0072|-1.0072	6|10	0.44086|0.87932	T|D	0.13|0	-20.476|-20.476	11.7201|11.7201	0.51677|0.51677	0.6177:0.0:0.3823:0.0|0.6177:0.0:0.3823:0.0	.|.	.|432	.|Q5VX71	.|SUSD4_HUMAN	E|R	207|432;432;363;272	.|ENSP00000344219:S432R;ENSP00000355843:S432R;ENSP00000399288:S272R	ENSP00000271787:A207E|ENSP00000344219:S432R	A|S	-|-	2|3	0|2	SUSD4|SUSD4	221463362|221463362	0.012000|0.012000	0.17670|0.17670	0.015000|0.015000	0.15790|0.15790	0.304000|0.304000	0.27724|0.27724	0.049000|0.049000	0.14099|0.14099	-0.670000|-0.670000	0.05282|0.05282	-0.345000|-0.345000	0.07892|0.07892	GCG|AGC		PASS	0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		22	15	22	15	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237991683	237991683	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:237991683C>T	ENST00000366574.2	+	102	14910	c.14593C>T	c.(14593-14595)Cta>Tta	p.L4865L	RYR2_ENST00000360064.6_Silent_p.L4871L|RYR2_ENST00000542537.1_Silent_p.L4849L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4865					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.L4863L(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)			AACACCAGGTCTAATTATTGA	0.388																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14593-14595)CTA>TTA		cardiac muscle ryanodine receptor							85.0	83.0	83.0					1																	237991683		1834	4083	5917	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.chr1:237991683C>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.14593C>T	1.37:g.237991683C>T						RYR2_uc010pyb.1_Silent_p.L298L	p.L4865L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		102	14713	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4865			Helical; Name=M10; (Potential).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14593C>T	CCDS55691.1																																																																																				PASS	0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	14	5	14	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241031891	241031891	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:241031891G>C	ENST00000407727.1	-	8	604	c.605C>G	c.(604-606)cCc>cGc	p.P202R	RGS7_ENST00000401882.1_Missense_Mutation_p.P149R|RGS7_ENST00000366565.1_Missense_Mutation_p.P202R|RGS7_ENST00000366562.4_Missense_Mutation_p.P202R|RGS7_ENST00000366563.1_Missense_Mutation_p.P202R|RGS7_ENST00000366564.1_Missense_Mutation_p.P202R|RGS7_ENST00000331110.7_Missense_Mutation_p.P176R|RGS7_ENST00000348120.2_Missense_Mutation_p.P149R|RGS7_ENST00000446183.2_Missense_Mutation_p.P118R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	202					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.P202R(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCTTACCACGGGCCTGTGCAC	0.507																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(604-606)CCC>CGC		regulator of G-protein signaling 7							141.0	109.0	120.0					1																	241031891		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241031891G>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.605C>G	1.37:g.241031891G>C	ENSP00000384428:p.Pro202Arg					RGS7_uc010pyh.1_Missense_Mutation_p.P176R|RGS7_uc010pyj.1_Missense_Mutation_p.P118R|RGS7_uc001hyu.2_Missense_Mutation_p.P202R|RGS7_uc009xgn.1_Missense_Mutation_p.P149R|RGS7_uc001hyw.2_Missense_Mutation_p.P202R|RGS7_uc001hyt.2_Missense_Mutation_p.P34R	p.P202R	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		9	935	-		all_cancers(173;0.0131)	202					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.605C>G		.	.	.	.	.	.	.	.	.	.	G	24.2	4.509892	0.85282	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.60299	0.47;0.33;0.39;0.39;0.2;0.47;0.52;0.39;0.33;0.47	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.998;0.999	D	0.84211	0.0456	10	0.87932	D	0	-15.2166	18.6358	0.91378	0.0:0.0:1.0:0.0	.	118;176;149;202;202;202;202	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	R	176;202;202;202;33;149;118;202;202;149	ENSP00000331485:P176R;ENSP00000355523:P202R;ENSP00000355522:P202R;ENSP00000355521:P202R;ENSP00000404399:P33R;ENSP00000341242:P149R;ENSP00000390138:P118R;ENSP00000355520:P202R;ENSP00000384428:P202R;ENSP00000385508:P149R	ENSP00000331485:P176R	P	-	2	0	RGS7	239098514	1.000000	0.71417	0.998000	0.56505	0.748000	0.42578	9.760000	0.98935	2.653000	0.90120	0.655000	0.94253	CCC		PASS	0.507	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		9	135	9	135	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246784903	246784903	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:246784903G>T	ENST00000366513.4	+	3	821	c.552G>T	c.(550-552)ttG>ttT	p.L184F	CNST_ENST00000366512.3_Missense_Mutation_p.L184F|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	184					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.L184F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTGAGCAGTTGGATTCAAGAG	0.453																																						uc001ibp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)TTG>TTT		hypothetical protein LOC163882 isoform 1							179.0	173.0	175.0					1																	246784903		2203	4300	6503	SO:0001583	missense	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.chr1:246784903G>T	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.552G>T	1.37:g.246784903G>T	ENSP00000355470:p.Leu184Phe					CNST_uc001ibo.3_Missense_Mutation_p.L184F	p.L184F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			3	930	+			184					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.552G>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452419	0.84209	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.31769	1.48;1.48	5.46	5.46	0.80206	.	0.546193	0.17137	N	0.185582	T	0.51856	0.1699	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.977;0.997	P;D	0.65987	0.803;0.94	T	0.41945	-0.9480	10	0.41790	T	0.15	-12.6155	16.035	0.80621	0.0:0.0:1.0:0.0	.	184;184	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	F	184	ENSP00000355470:L184F;ENSP00000355469:L184F	ENSP00000355469:L184F	L	+	3	2	CNST	244851526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.255000	0.65462	2.551000	0.86045	0.655000	0.94253	TTG		PASS	0.453	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	303	8	303	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247607428	247607428	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:247607428A>T	ENST00000336119.3	+	7	3570	c.2824A>T	c.(2824-2826)Aag>Tag	p.K942*	NLRP3_ENST00000348069.2_Nonsense_Mutation_p.K828*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.K885*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.K885*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.K885*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.K942*	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	942					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.K942*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCGACTGCAAGCTTCAGGT	0.507																																						uc001icr.2																			1	Substitution - Nonsense(1)	p.K942N(1)	lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2824-2826)AAG>TAG		NLR family, pyrin domain containing 3 isoform a							120.0	108.0	112.0					1																	247607428		2203	4300	6503	SO:0001587	stop_gained	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607428A>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2824A>T	1.37:g.247607428A>T	ENSP00000337383:p.Lys942*					NLRP3_uc001ics.2_Nonsense_Mutation_p.K885*|NLRP3_uc001icu.2_Nonsense_Mutation_p.K942*|NLRP3_uc001icw.2_Nonsense_Mutation_p.K885*|NLRP3_uc001icv.2_Nonsense_Mutation_p.K828*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.K920*	p.K942*	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	2962	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	942			LRR 8.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	c.2824A>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	A	47	13.147581	0.99723	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	4.06	2.94	0.34122	.	0.408219	0.21114	N	0.079927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1261	0.20180	0.8868:0.0:0.1132:0.0	.	.	.	.	X	942;885;942;828;885;885	.	ENSP00000337383:K942X	K	+	1	0	NLRP3	245674051	0.783000	0.28701	0.991000	0.47740	0.699000	0.40488	2.465000	0.45075	0.909000	0.36697	0.448000	0.29417	AAG		PASS	0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		37	59	37	59	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525863	248525863	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:248525863G>T	ENST00000366475.1	+	1	981	c.981G>T	c.(979-981)aaG>aaT	p.K327N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K327N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTAGGAATAAGGATGTCATGG	0.428																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(979-981)AAG>AAT		olfactory receptor, family 2, subfamily T,							120.0	125.0	123.0					1																	248525863		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525863G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.981G>T	1.37:g.248525863G>T	ENSP00000355431:p.Lys327Asn						p.K327N	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	981	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		327			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.981G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653883	0.47362	.	.	ENSG00000196944	ENST00000366475	T	0.45668	0.89	3.0	-0.199	0.13220	.	0.000000	0.49305	D	0.000152	T	0.50701	0.1631	L	0.49256	1.55	0.30685	N	0.751931	D	0.62365	0.991	D	0.73380	0.98	T	0.52697	-0.8541	10	0.87932	D	0	.	7.7635	0.28965	0.5209:0.0:0.4791:0.0	.	327	Q8NH00	OR2T4_HUMAN	N	327	ENSP00000355431:K327N	ENSP00000355431:K327N	K	+	3	2	OR2T4	246592486	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	1.080000	0.30779	0.040000	0.15660	0.585000	0.79938	AAG		PASS	0.428	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		77	92	77	92	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1263159	1263159	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:1263159G>T	ENST00000308624.5	+	13	1152	c.1023G>T	c.(1021-1023)tgG>tgT	p.W341C	SNTG2_ENST00000407292.1_Missense_Mutation_p.W214C	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	341	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.W341C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATTCGATTGGGTGCGAGCAG	0.393																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1021-1023)TGG>TGT		syntrophin, gamma 2							111.0	106.0	108.0					2																	1263159		1881	4125	6006	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263159G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1023G>T	2.37:g.1263159G>T	ENSP00000311837:p.Trp341Cys					SNTG2_uc010ewi.2_Missense_Mutation_p.W214C	p.W341C	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1151	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	341			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1023G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077614	0.36662	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.76709	0.44;-1.04	4.76	4.76	0.60689	Pleckstrin homology domain (1);	0.130156	0.56097	D	0.000030	D	0.88160	0.6362	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.956	D	0.90215	0.4267	10	0.87932	D	0	.	17.3707	0.87376	0.0:0.0:1.0:0.0	.	214;341	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	C	341;214	ENSP00000311837:W341C;ENSP00000385020:W214C	ENSP00000311837:W341C	W	+	3	0	SNTG2	1245759	1.000000	0.71417	0.870000	0.34147	0.024000	0.10985	6.497000	0.73674	2.189000	0.69895	0.637000	0.83480	TGG		PASS	0.393	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		5	72	5	72	---	---	---	---
TRAPPC12	51112	broad.mit.edu	37	2	3392340	3392340	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:3392340A>G	ENST00000324266.5	+	2	1141	c.946A>G	c.(946-948)Acg>Gcg	p.T316A	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.T316A	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	316					vesicle-mediated transport (GO:0016192)			p.T316A(1)									CGGCGAGGCTACGCGTGGAGT	0.662																																						uc002qxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(946-948)ACG>GCG		tetratricopeptide repeat domain 15							32.0	29.0	30.0					2																	3392340		2202	4299	6501	SO:0001583	missense	51112						binding	g.chr2:3392340A>G	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.946A>G	2.37:g.3392340A>G	ENSP00000324318:p.Thr316Ala					TTC15_uc002qxn.1_Missense_Mutation_p.T316A|TTC15_uc010ewm.1_Missense_Mutation_p.T316A|TTC15_uc002qxl.1_Missense_Mutation_p.T316A	p.T316A	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	1152	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	316					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.946A>G	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904439	0.52333	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.61040	0.14;0.14	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.991;0.996	T	0.78831	-0.2049	10	0.62326	D	0.03	.	14.4554	0.67413	1.0:0.0:0.0:0.0	.	299;316;316	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	A	316;299;316	ENSP00000371544:T316A;ENSP00000324318:T316A	ENSP00000303612:T299A	T	+	1	0	TTC15	3371347	1.000000	0.71417	0.624000	0.29186	0.012000	0.07955	8.568000	0.90741	2.248000	0.74166	0.459000	0.35465	ACG		PASS	0.662	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		3	4	3	4	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15378795	15378795	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:15378795G>A	ENST00000281513.5	-	45	5765	c.5740C>T	c.(5740-5742)Cgt>Tgt	p.R1914C	NBAS_ENST00000441750.1_Missense_Mutation_p.R1794C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1914			R -> H (in SOPH). {ECO:0000269|PubMed:20577004}.		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.R1914C(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						ATCTCTTTACGGGCTTCCACA	0.368																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(5740-5742)CGT>TGT		neuroblastoma-amplified protein							70.0	71.0	70.0					2																	15378795		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15378795G>A	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.5740C>T	2.37:g.15378795G>A	ENSP00000281513:p.Arg1914Cys					NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Missense_Mutation_p.R986C|NBAS_uc002rcd.1_RNA	p.R1914C	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			45	5766	-			1914					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5740C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558250	0.45590	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.67345	2.48;2.68;-0.26	5.97	5.07	0.68467	.	0.042897	0.85682	D	0.000000	T	0.80864	0.4705	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.964	T	0.83291	-0.0033	10	0.87932	D	0	.	13.9866	0.64339	0.0:0.0:0.6105:0.3895	.	1794;1914	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	C	1794;1914;6	ENSP00000413201:R1794C;ENSP00000281513:R1914C;ENSP00000392421:R6C	ENSP00000281513:R1914C	R	-	1	0	NBAS	15296246	1.000000	0.71417	0.225000	0.23894	0.537000	0.34900	3.124000	0.50461	1.464000	0.47987	0.655000	0.94253	CGT		PASS	0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		7	28	7	28	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17896303	17896303	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:17896303G>A	ENST00000448223.2	-	16	1824	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	SMC6_ENST00000381272.4_Missense_Mutation_p.L545F|SMC6_ENST00000402989.1_Missense_Mutation_p.L519F|SMC6_ENST00000351948.4_Missense_Mutation_p.L519F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	519	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.L519F(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAAAGCAAGTTCTGGGTCC	0.393																																						uc002rco.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(1555-1557)CTT>TTT		SMC6 protein							90.0	93.0	92.0					2																	17896303		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17896303G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1555C>T	2.37:g.17896303G>A	ENSP00000404092:p.Leu519Phe					SMC6_uc010exo.2_Missense_Mutation_p.L519F|SMC6_uc002rcn.2_Missense_Mutation_p.L519F|SMC6_uc002rcp.1_Missense_Mutation_p.L545F|SMC6_uc002rcq.2_Missense_Mutation_p.L545F	p.L519F	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			16	1851	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		519			Flexible hinge.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.1555C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867663	0.32977	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.32988	2.77;2.77;2.28;2.77;1.43	6.16	5.28	0.74379	RecF/RecN/SMC (1);	0.173452	0.51477	D	0.000084	T	0.24392	0.0591	L	0.39147	1.195	0.46798	D	0.999201	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.17979	0.019;0.008;0.02	T	0.03306	-1.1050	10	0.27082	T	0.32	.	10.3841	0.44129	0.1914:0.0:0.8086:0.0	.	545;545;519	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	F	519;519;545;519;545	ENSP00000404092:L519F;ENSP00000323439:L519F;ENSP00000370672:L545F;ENSP00000384539:L519F;ENSP00000408644:L545F	ENSP00000323439:L519F	L	-	1	0	SMC6	17759784	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.309000	0.59135	2.937000	0.99478	0.650000	0.86243	CTT		PASS	0.393	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		67	55	67	55	---	---	---	---
APOB	338	broad.mit.edu	37	2	21227276	21227276	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:21227276G>A	ENST00000233242.1	-	28	12079	c.11952C>T	c.(11950-11952)acC>acT	p.T3984T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3984					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3984T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGGAGATCGGTGAACGCTG	0.512																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11950-11952)ACC>ACT		apolipoprotein B precursor	Atorvastatin(DB01076)						153.0	145.0	148.0					2																	21227276		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21227276G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11952C>T	2.37:g.21227276G>A							p.T3984T	NM_000384	NP_000375	P04114	APOB_HUMAN			28	12080	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3984					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11952C>T	CCDS1703.1																																																																																				PASS	0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	62	10	62	---	---	---	---
RAB10	10890	broad.mit.edu	37	2	26257592	26257592	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:26257592A>T	ENST00000264710.4	+	1	614	c.115A>T	c.(115-117)Att>Ttt	p.I39F		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	39					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.I39F(1)		lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTACCTTTATTTCCACCAT	0.493																																						uc002rgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)ATT>TTT		ras-related GTP-binding protein RAB10							152.0	143.0	146.0					2																	26257592		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26257592A>T	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.115A>T	2.37:g.26257592A>T	ENSP00000264710:p.Ile39Phe						p.I39F	NM_016131	NP_057215	P61026	RAB10_HUMAN			1	864	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		39			Effector region (By similarity).		D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.115A>T	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576349	0.65878	.	.	ENSG00000084733	ENST00000264710	T	0.77750	-1.12	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.63843	1.955	0.80722	D	1	B	0.25955	0.138	B	0.27380	0.079	T	0.75869	-0.3165	10	0.87932	D	0	.	13.0672	0.59041	1.0:0.0:0.0:0.0	.	39	P61026	RAB10_HUMAN	F	39	ENSP00000264710:I39F	ENSP00000264710:I39F	I	+	1	0	RAB10	26111096	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.700000	0.91322	1.971000	0.57363	0.533000	0.62120	ATT		PASS	0.493	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		18	97	18	97	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481650	27481650	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:27481650C>A	ENST00000233535.4	-	2	600	c.248G>T	c.(247-249)tGc>tTc	p.C83F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.C78F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	83					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.C83F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGACAAAGCAAACGGCACA	0.612																																						uc002rjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TGC>TTC		solute carrier family 30 (zinc transporter),							62.0	66.0	65.0					2																	27481650		2203	4299	6502	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481650C>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.248G>T	2.37:g.27481650C>A	ENSP00000233535:p.Cys83Phe					SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.C78F	p.C83F	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			2	434	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		83			Helical; (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.248G>T	CCDS1743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449857|4.449857	0.84101|0.84101	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569|ENST00000445870	T;T;T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85544|0.85544	0.5721|0.5721	M|M	0.92219|0.92219	3.285|3.285	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	D|D	0.88962|0.88962	0.3394|0.3394	10|5	0.87932|.	D|.	0|.	-22.5189|-22.5189	16.4981|16.4981	0.84250|0.84250	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;83|.	F5H3B7;Q99726|.	.;ZNT3_HUMAN|.	F|F	83;78;34;70;61;34;34|71	ENSP00000233535:C83F;ENSP00000415226:C78F;ENSP00000414320:C34F;ENSP00000393545:C70F;ENSP00000403959:C61F;ENSP00000403912:C34F;ENSP00000392673:C34F|.	ENSP00000233535:C83F|.	C|L	-|-	2|3	0|2	SLC30A3|SLC30A3	27335154|27335154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	7.417000|7.417000	0.80156|0.80156	2.482000|2.482000	0.83794|0.83794	0.561000|0.561000	0.74099|0.74099	TGC|TTG		PASS	0.612	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			32	33	32	33	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29259412	29259412	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:29259412T>C	ENST00000379558.4	+	18	2775	c.2424T>C	c.(2422-2424)ttT>ttC	p.F808F	FAM179A_ENST00000403861.2_Silent_p.F753F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	808								p.F106F(1)|p.F808F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AATAGGTCTTTGATGCTTTCA	0.552																																						uc010ezl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(2422-2424)TTT>TTC		hypothetical protein LOC165186							88.0	78.0	82.0					2																	29259412		2203	4300	6503	SO:0001819	synonymous_variant	165186						binding	g.chr2:29259412T>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2424T>C	2.37:g.29259412T>C						FAM179A_uc010ymm.1_Silent_p.F753F|FAM179A_uc002rmr.3_Silent_p.F335F|FAM179A_uc002rms.1_Silent_p.F106F	p.F808F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			18	2775	+			808					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.2424T>C	CCDS1769.2																																																																																				PASS	0.552	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		30	21	30	21	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296932	29296932	+	Silent	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:29296932T>G	ENST00000331664.5	-	1	195	c.196A>C	c.(196-198)Agg>Cgg	p.R66R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	66					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R66R(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTTTGGTTCCTCCTGGGACTT	0.527																																						uc002rmt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(196-198)AGG>CGG		hypothetical protein LOC388939							120.0	115.0	116.0					2																	29296932		1945	4150	6095	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296932T>G		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.196A>C	2.37:g.29296932T>G							p.R66R	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	196	-			66						Silent	SNP	ENST00000331664.5	37	c.196A>C	CCDS42669.1																																																																																				PASS	0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		18	32	18	32	---	---	---	---
TTC7A	57217	broad.mit.edu	37	2	47273469	47273469	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:47273469G>T	ENST00000319190.5	+	16	2186	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	TTC7A_ENST00000409245.1_Missense_Mutation_p.K572N|TTC7A_ENST00000461601.1_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.K606N|TTC7A_ENST00000263737.6_Missense_Mutation_p.K252N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	606					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.K606N(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTTCACCAAGGTGAAGCTGG	0.632																																						uc002rvo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1816-1818)AAG>AAT		tetratricopeptide repeat domain 7A							88.0	81.0	84.0					2																	47273469		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47273469G>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1818G>T	2.37:g.47273469G>T	ENSP00000316699:p.Lys606Asn					TTC7A_uc002rvm.2_Missense_Mutation_p.K572N|TTC7A_uc002rvn.1_Intron|TTC7A_uc010fbb.2_Missense_Mutation_p.K606N|TTC7A_uc010fbc.2_Missense_Mutation_p.K252N|TTC7A_uc002rvp.2_Missense_Mutation_p.K487N|TTC7A_uc002rvq.2_Missense_Mutation_p.K346N|TTC7A_uc002rvr.2_Missense_Mutation_p.K55N	p.K606N	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		16	2186	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	606					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1818G>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657759	0.67586	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.51	3.72	0.42706	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.998;0.999	T	0.64909	-0.6296	10	0.87932	D	0	-42.1613	7.8974	0.29715	0.2529:0.0:0.7471:0.0	.	606;572;606;572	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	N	572;606;606;252;433	ENSP00000386307:K572N;ENSP00000316699:K606N;ENSP00000378320:K606N;ENSP00000263737:K252N	ENSP00000263737:K252N	K	+	3	2	TTC7A	47126973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.712000	0.47186	0.813000	0.34350	0.655000	0.94253	AAG		PASS	0.632	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		4	27	4	27	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54175569	54175569	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:54175569A>G	ENST00000404125.1	-	3	544	c.489T>C	c.(487-489)aaT>aaC	p.N163N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	163					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.N163N(1)|p.N49N(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TAGGAAACCAATTTAATCCTA	0.358																																						uc002rxp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(487-489)AAT>AAC		proteasome (prosome, macropain) activator							100.0	108.0	105.0					2																	54175569		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54175569A>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.489T>C	2.37:g.54175569A>G						PSME4_uc010yop.1_Silent_p.N49N|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.N163N	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	545	-			163					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.489T>C	CCDS33197.2																																																																																				PASS	0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		13	84	13	84	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54882236	54882236	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:54882236A>G	ENST00000356805.4	+	28	6133	c.5852A>G	c.(5851-5853)aAt>aGt	p.N1951S	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1938S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1951	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.N1938S(1)|p.N1951S(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCTTAATGAATAATCATCAA	0.373																																						uc002rxu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5851-5853)AAT>AGT		spectrin, beta, non-erythrocytic 1 isoform 1							90.0	80.0	83.0					2																	54882236		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54882236A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5852A>G	2.37:g.54882236A>G	ENSP00000349259:p.Asn1951Ser					SPTBN1_uc002rxx.2_Missense_Mutation_p.N1938S|SPTBN1_uc002rxy.2_Missense_Mutation_p.N96S|SPTBN1_uc010you.1_5'Flank	p.N1951S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		28	6101	+			1951			Spectrin 16.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5852A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368141	0.61513	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.48836	0.8;0.8	5.63	5.63	0.86233	.	0.045172	0.85682	D	0.000000	T	0.38348	0.1037	N	0.26092	0.79	0.58432	D	0.999997	B;B;B	0.17038	0.011;0.02;0.014	B;B;B	0.12156	0.006;0.004;0.007	T	0.14643	-1.0465	10	0.49607	T	0.09	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	1951;1938;1951	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	S	1951;1938	ENSP00000349259:N1951S;ENSP00000334156:N1938S	ENSP00000334156:N1938S	N	+	2	0	SPTBN1	54735740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.281000	0.76405	0.533000	0.62120	AAT		PASS	0.373	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			16	15	16	15	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61413610	61413610	+	IGR	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:61413610G>T	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Missense_Mutation_p.W74C|AHSA2_ENST00000410073.1_Missense_Mutation_p.W83C|AHSA2_ENST00000357022.2_Missense_Mutation_p.W74C|AHSA2_ENST00000489653.1_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.W74C(1)|p.W237C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCATGAAATGGAGATGTGGGA	0.358																																						uc002sbc.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(220-222)TGG>TGT		AHA1, activator of heat shock 90kDa protein							104.0	107.0	106.0					2																	61413610		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61413610G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61413610G>T						AHSA2_uc002sbb.1_RNA	p.W74C	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		5	1808	+			236					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.222G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.290727	0.80914	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.92	5.92	0.95590	.	0.178370	0.41396	D	0.000882	D	0.83977	0.5371	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85736	0.1334	9	0.87932	D	0	.	17.044	0.86497	0.0:0.0:1.0:0.0	.	236	Q719I0	AHSA2_HUMAN	C	74;74;237;83	.	ENSP00000349525:W74C	W	+	3	0	AHSA2	61267114	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	6.889000	0.75627	2.818000	0.97014	0.655000	0.94253	TGG		PASS	0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	66	5	66	---	---	---	---
GMCL1	64395	broad.mit.edu	37	2	70082087	70082087	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:70082087C>A	ENST00000282570.3	+	9	1318	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	356					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.P356H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCTGTAGTACCTTCAGGTAAG	0.279																																						uc002sfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1066-1068)CCT>CAT		germ cell-less							76.0	82.0	80.0					2																	70082087		2203	4297	6500	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70082087C>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1067C>A	2.37:g.70082087C>A	ENSP00000282570:p.Pro356His						p.P356H	NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN			9	1274	+			356					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.1067C>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181050	0.78677	.	.	ENSG00000087338	ENST00000282570	T	0.68479	-0.33	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.81983	0.4938	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84734	0.0747	10	0.87932	D	0	-30.5844	15.3304	0.74203	0.0:1.0:0.0:0.0	.	356	Q96IK5	GMCL1_HUMAN	H	356	ENSP00000282570:P356H	ENSP00000282570:P356H	P	+	2	0	GMCL1	69935591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.394000	0.66285	2.478000	0.83669	0.585000	0.79938	CCT		PASS	0.279	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		6	63	6	63	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136767	80136767	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:80136767G>A	ENST00000402739.4	+	6	905	c.900G>A	c.(898-900)cgG>cgA	p.R300R	CTNNA2_ENST00000466387.1_Silent_p.R300R|CTNNA2_ENST00000361291.4_Silent_p.R334R|CTNNA2_ENST00000496558.1_Silent_p.R300R|CTNNA2_ENST00000540488.1_Silent_p.R300R|CTNNA2_ENST00000541047.1_Silent_p.R300R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	300					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R300R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGGTTCCGGCCGTCCCTGG	0.597																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(898-900)CGG>CGA		catenin, alpha 2 isoform 1							61.0	65.0	63.0					2																	80136767		1983	4196	6179	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136767G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.900G>A	2.37:g.80136767G>A						CTNNA2_uc010yse.1_Silent_p.R300R|CTNNA2_uc010ysf.1_Silent_p.R300R|CTNNA2_uc010ysg.1_Silent_p.R300R	p.R300R	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	905	+			300					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.900G>A																																																																																					PASS	0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	39	6	39	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86683959	86683959	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:86683959T>A	ENST00000409556.1	+	8	1078	c.713T>A	c.(712-714)cTg>cAg	p.L238Q	KDM3A_ENST00000409064.1_Missense_Mutation_p.L238Q|KDM3A_ENST00000542128.1_Missense_Mutation_p.L186Q|KDM3A_ENST00000312912.5_Missense_Mutation_p.L238Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	238					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L238Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATCCGTCACTGATTCATGTT	0.343																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(712-714)CTG>CAG		jumonji domain containing 1A							132.0	131.0	131.0					2																	86683959		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86683959T>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.713T>A	2.37:g.86683959T>A	ENSP00000386660:p.Leu238Gln					KDM3A_uc010ytj.1_Missense_Mutation_p.L238Q|KDM3A_uc010ytk.1_Missense_Mutation_p.L186Q	p.L238Q	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			7	1040	+			238					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.713T>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294875	0.81025	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.01	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000028	T	0.77778	0.4181	M	0.70275	2.135	0.46396	D	0.99902	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80174	-0.1492	10	0.72032	D	0.01	.	13.9437	0.64071	0.0:0.0:0.0:1.0	.	186;238	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Q	238;238;238;238;186	ENSP00000386660:L238Q;ENSP00000323659:L238Q;ENSP00000386516:L238Q;ENSP00000438324:L186Q	ENSP00000323659:L238Q	L	+	2	0	KDM3A	86537470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.730000	0.62015	2.168000	0.68352	0.459000	0.35465	CTG		PASS	0.343	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		17	16	17	16	---	---	---	---
RPIA	22934	broad.mit.edu	37	2	89028822	89028822	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:89028822C>A	ENST00000283646.4	+	4	484	c.429C>A	c.(427-429)ggC>ggA	p.G143G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	143					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.G143G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGCAGTATGGCTTGACCCTCA	0.498																																						uc002ste.2																			1	Substitution - coding silent(1)	p.G143D(1)	lung(1)	ovary(1)	1						c.(427-429)GGC>GGA		ribose 5-phosphate isomerase A							72.0	80.0	77.0					2																	89028822		2001	4163	6164	SO:0001819	synonymous_variant	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89028822C>A	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.429C>A	2.37:g.89028822C>A							p.G143G	NM_144563	NP_653164	P49247	RPIA_HUMAN			4	470	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	143					Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	c.429C>A	CCDS2004.2																																																																																				PASS	0.498	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			4	23	4	23	---	---	---	---
IGKV1-16	28938	broad.mit.edu	37	2	89399590	89399591	+	RNA	DNP	CC	CC	AT	rs575520829		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:89399590_89399591CC>AT	ENST00000479981.1	-	0	138_139									immunoglobulin kappa variable 1-16																		GACTCTGTCTCCTACAGATGCA	0.46																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.																																						0							g.chr2:89399590C>A|g.chr2:89399591C>T	J00248		2p11.2	2012-02-10			ENSG00000240864	ENSG00000240864		"""Immunoglobulins / IGK locus"""	5732	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV116, L1			OTTHUMG00000151649	Exception_encountered	2.37:g.89399590_89399591delinsAT						uc002stl.2_Intron								46		-									RNA	SNP	ENST00000479981.1	37	c.4855G>T|c.4854G>A																																																																																					PASS	0.460	IGKV1-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323398.1	NG_000834		84	68	84	68	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781011	96781011	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:96781011G>A	ENST00000409345.3	-	1	973	c.878C>T	c.(877-879)cCa>cTa	p.P293L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	293					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.P293L(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCATCCTCTGGAGATGCCCC	0.637																																						uc002svi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(877-879)CCA>CTA		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						9.0	12.0	11.0					2																	96781011		2049	4179	6228	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781011G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.878C>T	2.37:g.96781011G>A	ENSP00000387281:p.Pro293Leu						p.P293L	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	878	-			293			Cytoplasmic (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.878C>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713797	0.15306	.	.	ENSG00000222040	ENST00000409345	T	0.61742	0.08	4.96	-0.699	0.11277	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39860	0.1094	L	0.31845	0.965	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.26815	-1.0092	9	0.38643	T	0.18	.	3.5513	0.07847	0.4292:0.0:0.3842:0.1866	.	293	P18089	ADA2B_HUMAN	L	293	ENSP00000387281:P293L	ENSP00000387281:P293L	P	-	2	0	ADRA2B	96144738	0.000000	0.05858	0.173000	0.22940	0.928000	0.56348	0.064000	0.14437	0.010000	0.14839	0.456000	0.33151	CCA		PASS	0.637	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			4	8	4	8	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96952549	96952549	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:96952549G>T	ENST00000323853.5	-	28	3783	c.3706C>A	c.(3706-3708)Cat>Aat	p.H1236N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1236	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.H1236N(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAATACTCATGGTGCAGAATC	0.522																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(3706-3708)CAT>AAT		activating signal cointegrator 1 complex subunit							138.0	137.0	137.0					2																	96952549		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96952549G>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3706C>A	2.37:g.96952549G>T	ENSP00000317123:p.His1236Asn					SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.H308N	p.H1236N	NM_014014	NP_054733	O75643	U520_HUMAN			28	3792	-			1236			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3706C>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780315	0.90195	.	.	ENSG00000144028	ENST00000323853	T	0.61158	0.13	4.75	4.75	0.60458	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	M	0.85859	2.78	0.80722	D	1	B	0.34290	0.447	B	0.39771	0.309	T	0.74466	-0.3656	10	0.87932	D	0	-18.2862	16.6715	0.85268	0.0:0.0:1.0:0.0	.	1236	O75643	U520_HUMAN	N	1236	ENSP00000317123:H1236N	ENSP00000317123:H1236N	H	-	1	0	SNRNP200	96316276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.568000	0.82369	2.477000	0.83638	0.455000	0.32223	CAT		PASS	0.522	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	81	5	81	---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97492658	97492658	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:97492658T>G	ENST00000305510.3	+	3	1486	c.1458T>G	c.(1456-1458)gaT>gaG	p.D486E	CNNM3_ENST00000377060.3_Missense_Mutation_p.D438E|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	486					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.D486E(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGTCTGATGATGAATATAAAG	0.562																																						uc002swy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1456-1458)GAT>GAG		cyclin M3 isoform 1							114.0	102.0	106.0					2																	97492658		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97492658T>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1458T>G	2.37:g.97492658T>G	ENSP00000305449:p.Asp486Glu					CNNM3_uc002swz.2_Missense_Mutation_p.D438E	p.D486E	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			3	1482	+			486					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1458T>G	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825301	0.32237	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.89681	-2.27;-2.55	5.76	-9.04	0.00734	.	0.508870	0.20095	N	0.099341	T	0.58524	0.2128	N	0.01168	-0.975	0.58432	D	0.999998	B;B	0.06786	0.0;0.001	B;B	0.12156	0.004;0.007	T	0.55029	-0.8204	10	0.05620	T	0.96	-2.8478	9.7085	0.40231	0.0:0.3034:0.4825:0.2141	.	438;486	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	E	438;438;486	ENSP00000366260:D438E;ENSP00000305449:D486E	ENSP00000305449:D486E	D	+	3	2	CNNM3	96856385	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	-1.540000	0.02200	-1.758000	0.01315	0.533000	0.62120	GAT		PASS	0.562	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		9	58	9	58	---	---	---	---
CHST10	9486	broad.mit.edu	37	2	101010038	101010038	+	Missense_Mutation	SNP	G	G	A	rs374730803		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:101010038G>A	ENST00000264249.3	-	7	1125	c.740C>T	c.(739-741)cCg>cTg	p.P247L	CHST10_ENST00000409701.1_Missense_Mutation_p.P247L|CHST10_ENST00000542617.1_Missense_Mutation_p.P295L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	247					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.P247L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCTGTGGTTCGGATCGCCGAG	0.512																																						uc002tam.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)CCG>CTG		HNK-1 sulfotransferase		G	LEU/PRO	0,4406		0,0,2203	262.0	240.0	247.0		740	5.9	0.7	2		247	2,8598	2.2+/-6.3	0,2,4298	no	missense	CHST10	NM_004854.4	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	247/357	101010038	2,13004	2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010038G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.740C>T	2.37:g.101010038G>A	ENSP00000264249:p.Pro247Leu						p.P247L	NM_004854	NP_004845	O43529	CHSTA_HUMAN			7	1099	-			247			Lumenal (Potential).		Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.740C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408237	0.62399	0.0	2.33E-4	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.71934	1.97;-0.61;1.97	5.91	5.91	0.95273	.	0.197054	0.53938	D	0.000043	T	0.71779	0.3380	M	0.66297	2.02	0.80722	D	1	D	0.54397	0.966	B	0.41332	0.354	T	0.74702	-0.3576	10	0.48119	T	0.1	-19.5371	20.2963	0.98556	0.0:0.0:1.0:0.0	.	247	O43529	CHSTA_HUMAN	L	247;295;247	ENSP00000264249:P247L;ENSP00000438869:P295L;ENSP00000387309:P247L	ENSP00000264249:P247L	P	-	2	0	CHST10	100376470	1.000000	0.71417	0.729000	0.30791	0.857000	0.48899	5.758000	0.68776	2.813000	0.96785	0.655000	0.94253	CCG		PASS	0.512	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		19	137	19	137	---	---	---	---
LIMS1	3987	broad.mit.edu	37	2	109300362	109300362	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:109300362C>G	ENST00000393310.1	+	10	1052	c.885C>G	c.(883-885)gaC>gaG	p.D295E	LIMS1_ENST00000332345.6_Missense_Mutation_p.D295E|LIMS1_ENST00000338045.3_Missense_Mutation_p.D295E|LIMS1_ENST00000544547.1_Missense_Mutation_p.D307E|LIMS1_ENST00000409441.1_Missense_Mutation_p.D332E|LIMS1_ENST00000410093.1_Missense_Mutation_p.D299E|LIMS1_ENST00000542845.1_Missense_Mutation_p.D357E	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	295	LIM zinc-binding 5. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.D295E(1)|p.D357E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGGAGTTTGACATGAAGCCAG	0.313																																						uc002teg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(883-885)GAC>GAG		LIM and senescent cell antigen-like domains 1							73.0	76.0	75.0					2																	109300362		2203	4299	6502	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109300362C>G		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.885C>G	2.37:g.109300362C>G	ENSP00000376987:p.Asp295Glu					LIMS1_uc002tef.2_Missense_Mutation_p.D307E|LIMS1_uc002teh.2_Missense_Mutation_p.D295E|LIMS1_uc002tei.2_Missense_Mutation_p.D295E|LIMS1_uc002tej.2_Missense_Mutation_p.D332E|LIMS1_uc002tek.3_Missense_Mutation_p.D357E|uc002tel.2_5'Flank	p.D295E	NM_004987	NP_004978	P48059	LIMS1_HUMAN			10	1004	+			295			LIM zinc-binding 5.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.885C>G	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795433	0.70452	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.93	5.06	0.68205	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	M	0.67625	2.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.994;0.996	D	0.92267	0.5822	10	0.87932	D	0	.	11.311	0.49364	0.0:0.8108:0.0:0.1892	.	357;332;295;307	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	E	307;295;295;299;332;295;357	ENSP00000437912:D307E;ENSP00000331775:D295E;ENSP00000376987:D295E;ENSP00000386926:D299E;ENSP00000387264:D332E;ENSP00000337598:D295E;ENSP00000446121:D357E	ENSP00000331775:D295E	D	+	3	2	LIMS1	108666794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.528000	0.35985	1.513000	0.48852	0.563000	0.77884	GAC		PASS	0.313	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		7	34	7	34	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130953819	130953819	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:130953819A>G	ENST00000312988.7	-	2	229	c.129T>C	c.(127-129)ggT>ggC	p.G43G		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	43					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G43G(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CGTCCCCGCCACCAATGGTTT	0.562																																						uc002tqv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(127-129)GGT>GGC		tubulin, alpha 3e							131.0	115.0	120.0					2																	130953819		2203	4300	6503	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130953819A>G	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.129T>C	2.37:g.130953819A>G							p.G43G	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			2	230	-	Colorectal(110;0.1)		43						Silent	SNP	ENST00000312988.7	37	c.129T>C	CCDS2158.1																																																																																				PASS	0.562	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		13	72	13	72	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141771263	141771263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:141771263C>A	ENST00000389484.3	-	14	3213	c.2242G>T	c.(2242-2244)Gga>Tga	p.G748*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	748					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.G748*(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)		ACATAATTTCCATGATGCGAC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Nonsense(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.(2242-2244)GGA>TGA		low density lipoprotein-related protein 1B							128.0	123.0	124.0					2																	141771263		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771263C>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.2242G>T	2.37:g.141771263C>A	ENSP00000374135:p.Gly748*	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G748*	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)	14	3214	-		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)	748			Extracellular (Potential).|LDL-receptor class B 8.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.2242G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	48	14.271151	0.99787	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.98	5.98	0.97165	.	0.322034	0.29233	U	0.012742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	14.5803	0.68284	0.0:0.9306:0.0:0.0694	.	.	.	.	X	748;686	.	ENSP00000374135:G748X	G	-	1	0	LRP1B	141487733	0.970000	0.33590	1.000000	0.80357	0.713000	0.41058	2.006000	0.40874	2.838000	0.97847	0.655000	0.94253	GGA		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	61	5	61	---	---	---	---
UPP2	151531	broad.mit.edu	37	2	158974404	158974404	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:158974404G>C	ENST00000005756.4	+	4	602	c.408G>C	c.(406-408)cgG>cgC	p.R136R	UPP2_ENST00000409859.4_Silent_p.R193R|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000605860.1_Silent_p.R193R	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	136					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.R136R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ACCATGCACGGTGCTGCGATG	0.428																																						uc002tzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)CGG>CGC		uridine phosphorylase 2 isoform a							190.0	174.0	179.0					2																	158974404		2203	4299	6502	SO:0001819	synonymous_variant	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158974404G>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.408G>C	2.37:g.158974404G>C						UPP2_uc002tzo.2_Silent_p.R193R	p.R136R	NM_173355	NP_775491	O95045	UPP2_HUMAN			4	602	+			136					B3KV87	Silent	SNP	ENST00000005756.4	37	c.408G>C	CCDS2207.1																																																																																				PASS	0.428	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		15	105	15	105	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163082006	163082006	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:163082006C>A	ENST00000188790.4	-	4	479	c.272G>T	c.(271-273)aGt>aTt	p.S91I	FAP_ENST00000443424.1_Missense_Mutation_p.S91I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.S91I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GGTTCTATTACTCAAAATGGT	0.343																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(271-273)AGT>ATT		fibroblast activation protein, alpha subunit							148.0	152.0	151.0					2																	163082006		2197	4299	6496	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163082006C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.272G>T	2.37:g.163082006C>A	ENSP00000188790:p.Ser91Ile					FAP_uc010zct.1_Missense_Mutation_p.S91I|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.S58I	p.S91I	NM_004460	NP_004451	Q12884	SEPR_HUMAN			4	480	-			91			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.272G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481527	0.63849	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.95949	-3.86;1.45	5.86	4.99	0.66335	.	0.179494	0.64402	D	0.000015	D	0.95274	0.8467	M	0.72894	2.215	0.42674	D	0.993523	P;P;P	0.45126	0.834;0.851;0.851	P;B;B	0.49421	0.61;0.203;0.203	D	0.94158	0.7412	10	0.42905	T	0.14	-8.9526	9.1936	0.37215	0.0:0.733:0.1872:0.0798	.	91;91;91	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	I	91;91;70	ENSP00000188790:S91I;ENSP00000411391:S91I	ENSP00000188790:S91I	S	-	2	0	FAP	162790252	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.889000	0.48601	1.494000	0.48533	0.655000	0.94253	AGT		PASS	0.343	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			8	37	8	37	---	---	---	---
GCA	25801	broad.mit.edu	37	2	163212953	163212953	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:163212953A>T	ENST00000437150.2	+	4	429	c.268A>T	c.(268-270)Agt>Tgt	p.S90C	GCA_ENST00000233612.4_Missense_Mutation_p.S71C|GCA_ENST00000429691.2_Missense_Mutation_p.S71C|GCA_ENST00000473240.1_3'UTR	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S90C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TACAGCCTTCAGTTTGGAAAC	0.284																																						uc002ucg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)AGT>TGT		grancalcin, EF-hand calcium binding protein							59.0	72.0	68.0					2																	163212953		2203	4288	6491	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163212953A>T	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.268A>T	2.37:g.163212953A>T	ENSP00000394842:p.Ser90Cys					GCA_uc010zcu.1_Missense_Mutation_p.S71C	p.S90C	NM_012198	NP_036330	P28676	GRAN_HUMAN			4	444	+			90			EF-hand 2.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.268A>T	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657654	0.88154	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.6	5.6	0.85130	EF-hand-like domain (1);	0.153324	0.64402	D	0.000001	D	0.92990	0.7769	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94497	0.7706	10	0.87932	D	0	.	15.0673	0.72005	1.0:0.0:0.0:0.0	.	90	P28676	GRAN_HUMAN	C	116;71;90;71;71	ENSP00000393218:S116C;ENSP00000412899:S71C;ENSP00000394842:S90C;ENSP00000403805:S71C;ENSP00000233612:S71C	ENSP00000233612:S71C	S	+	1	0	GCA	162921199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.690000	0.91272	2.251000	0.74343	0.528000	0.53228	AGT		PASS	0.284	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		36	14	36	14	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166892733	166892733	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:166892733C>A	ENST00000303395.4	-	16	3253	c.3254G>T	c.(3253-3255)gGt>gTt	p.G1085V	SCN1A_ENST00000423058.2_Missense_Mutation_p.G1085V|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1057V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1074V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1085					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G1085V(1)|p.G1074V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTTCCTATACCACTTGTAGT	0.353																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3220-3222)GGT>GTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						182.0	171.0	175.0					2																	166892733		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892733C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3254G>T	2.37:g.166892733C>A	ENSP00000303540:p.Gly1085Val					SCN1A_uc002udo.3_Missense_Mutation_p.G954V|SCN1A_uc010fpk.2_Missense_Mutation_p.G926V	p.G1074V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3239	-			1085					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3221G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521854	0.64747	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96136	-3.92;-3.92;-3.88;-3.87	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.95108	0.8415	M	0.66939	2.045	0.80722	D	1	B;B;B	0.29766	0.045;0.043;0.256	B;B;B	0.33960	0.02;0.017;0.173	D	0.93504	0.6847	10	0.48119	T	0.1	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	1074;1057;1085	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	1085;1085;1074;1057	ENSP00000407030:G1085V;ENSP00000303540:G1085V;ENSP00000364554:G1074V;ENSP00000386312:G1057V	ENSP00000303540:G1085V	G	-	2	0	SCN1A	166600979	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.950000	0.70265	2.709000	0.92574	0.655000	0.94253	GGT		PASS	0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		36	16	36	16	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(4)		lung(2)|endometrium(2)	central_nervous_system(1)	1						c.(100-102)CGA>GGA		nuclear factor erythroid 2-like 2 isoform 1							75.0	68.0	70.0					2																	178098945		1847	4103	5950	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098945G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G	p.R34G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	655	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.100C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA		PASS	0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		23	15	23	15	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592919	179592919	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:179592919T>G	ENST00000591111.1	-	65	18905	c.18681A>C	c.(18679-18681)gaA>gaC	p.E6227D	TTN_ENST00000589042.1_Missense_Mutation_p.E6544D|TTN_ENST00000342992.6_Missense_Mutation_p.E5300D|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13007	Ig-like 43.				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.E5300D(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)			TATCTTCTAATTCCAGATTAT	0.378																																						uc010zfg.1																			1	Substitution - Missense(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.(15898-15900)GAA>GAC		titin isoform N2-A							60.0	60.0	60.0					2																	179592919		1909	4130	6039	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592919T>G	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.18681A>C	2.37:g.179592919T>G	ENSP00000465570:p.Glu6227Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1961D	p.E5300D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	16124	-			6227					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.15900A>C		.	.	.	.	.	.	.	.	.	.	T	10.34	1.323254	0.24080	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.77	0.197	0.15164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46288	0.1385	L	0.28694	0.88	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.42965	-0.9420	9	0.87932	D	0	.	0.6122	0.00763	0.2332:0.1416:0.2403:0.3849	.	6227	Q8WZ42	TITIN_HUMAN	D	5300	ENSP00000343764:E5300D	ENSP00000343764:E5300D	E	-	3	2	TTN	179301164	0.969000	0.33509	0.999000	0.59377	0.963000	0.63663	0.673000	0.25203	0.147000	0.19030	0.477000	0.44152	GAA		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	29	11	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610662	179610662	+	Intron	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:179610662T>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S5489R|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATTAAACTGCTTAAAGTC	0.403																																						uc002unb.2																			0				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.(16465-16467)AGT>CGT		titin isoform novex-3							105.0	101.0	103.0					2																	179610662		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610662T>G	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.10361-4014A>C	2.37:g.179610662T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S5489R	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16689	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.16465A>C		.	.	.	.	.	.	.	.	.	.	T	11.42	1.632322	0.29068	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59638	0.25	6.07	6.07	0.98685	.	.	.	.	.	T	0.63651	0.2529	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.58399	-0.7643	9	0.18276	T	0.48	.	14.1521	0.65392	0.0:0.0:0.0:1.0	.	5489	Q8WZ42-6	.	R	5489;770	ENSP00000354117:S5489R	ENSP00000304714:S770R	S	-	1	0	TTN	179318907	1.000000	0.71417	0.999000	0.59377	0.386000	0.30323	3.109000	0.50345	2.326000	0.78906	0.533000	0.62120	AGT		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	69	30	69	---	---	---	---
ZC3H15	55854	broad.mit.edu	37	2	187368929	187368929	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:187368929A>G	ENST00000337859.6	+	6	932	c.705A>G	c.(703-705)ctA>ctG	p.L235L	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Silent_p.L30L	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	235					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L235L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TAGAAGATCTAATTGAGAGAG	0.333																																						uc002upo.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(703-705)CTA>CTG		erythropoietin 4 immediate early response							60.0	59.0	60.0					2																	187368929		1808	4076	5884	SO:0001819	synonymous_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187368929A>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.705A>G	2.37:g.187368929A>G							p.L235L	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		6	930	+			235			Potential.		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	c.705A>G	CCDS42791.1																																																																																				PASS	0.333	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		35	24	35	24	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198358104	198358104	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:198358104C>A	ENST00000388968.3	-	7	1080	c.813G>T	c.(811-813)ttG>ttT	p.L271F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L271F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	271					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.L271F(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CGATTATGACCAAAGGCTTAC	0.388																																						uc002uui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)TTG>TTT		chaperonin							126.0	127.0	127.0					2																	198358104		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198358104C>A	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.813G>T	2.37:g.198358104C>A	ENSP00000373620:p.Leu271Phe					HSPD1_uc002uuj.2_Missense_Mutation_p.L269F|HSPD1_uc010zgx.1_Missense_Mutation_p.L262F|HSPD1_uc010fsm.2_Missense_Mutation_p.L82F|HSPD1_uc002uuk.2_Missense_Mutation_p.L271F	p.L271F	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		7	950	-			271					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.813G>T	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047886	0.75846	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745	D;D	0.85258	-1.96;-1.96	5.33	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	M	0.91406	3.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.993;0.994;0.971	D	0.93040	0.6456	10	0.87932	D	0	-8.1696	9.7126	0.40254	0.0:0.7922:0.0:0.2078	.	262;271;271	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	F	271;271;127	ENSP00000373620:L271F;ENSP00000340019:L271F	ENSP00000340019:L271F	L	-	3	2	HSPD1	198066349	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.587000	0.36622	2.648000	0.89879	0.585000	0.79938	TTG		PASS	0.388	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		5	96	5	96	---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207011634	207011634	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:207011634C>T	ENST00000233190.6	-	8	996	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NDUFS1_ENST00000432169.1_Missense_Mutation_p.E133K|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E244K|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E128K|NDUFS1_ENST00000423725.1_Missense_Mutation_p.E187K|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E258K|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E208K	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	244					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E244K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACCTTGTTTCCCAAGGCCGG	0.363																																						uc002vbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)GAA>AAA		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						86.0	80.0	82.0					2																	207011634		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207011634C>T		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.730G>A	2.37:g.207011634C>T	ENSP00000233190:p.Glu244Lys					NDUFS1_uc010ziq.1_Missense_Mutation_p.E258K|NDUFS1_uc010zir.1_Missense_Mutation_p.E208K|NDUFS1_uc010zis.1_Missense_Mutation_p.E187K|NDUFS1_uc010zit.1_Missense_Mutation_p.E133K|NDUFS1_uc010ziu.1_Missense_Mutation_p.E128K	p.E244K	NM_005006	NP_004997	P28331	NDUS1_HUMAN			8	857	-			244					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.730G>A	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833685	0.97003	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.995	D;P;P;P	0.79784	0.993;0.893;0.893;0.893	D	0.97692	1.0179	10	0.87932	D	0	0.7659	19.5672	0.95398	0.0:1.0:0.0:0.0	.	133;208;258;244	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	K	244;187;128;208;258;244;133	ENSP00000233190:E244K;ENSP00000397760:E187K;ENSP00000400976:E128K;ENSP00000409766:E208K;ENSP00000392709:E258K;ENSP00000399912:E244K;ENSP00000409689:E133K	ENSP00000233190:E244K	E	-	1	0	NDUFS1	206719879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.616000	0.88540	0.655000	0.94253	GAA		PASS	0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		10	59	10	59	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219895545	219895545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:219895545G>A	ENST00000341552.5	-	9	1110	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	CCDC108_ENST00000453220.1_Nonsense_Mutation_p.Q343*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.Q343*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.Q332*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.Q278*	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	343						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Q343*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCAGCTGGGCGCACTTG	0.637																																						uc002vjl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1027-1029)CAG>TAG		coiled-coil domain containing 108 isoform 1							40.0	42.0	41.0					2																	219895545		2203	4300	6503	SO:0001587	stop_gained	255101					integral to membrane	structural molecule activity	g.chr2:219895545G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1027C>T	2.37:g.219895545G>A	ENSP00000340776:p.Gln343*					CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Nonsense_Mutation_p.Q332*|CCDC108_uc010zkq.1_Nonsense_Mutation_p.Q278*	p.Q343*	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1111	-		Renal(207;0.0915)	343					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Nonsense_Mutation	SNP	ENST00000341552.5	37	c.1027C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240382	0.79912	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	.	.	.	4.97	4.97	0.65823	.	0.000000	0.43919	D	0.000501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-26.5414	12.2553	0.54621	0.0888:0.0:0.9112:0.0	.	.	.	.	X	343;343;343;332;278;277	.	ENSP00000340776:Q343X	Q	-	1	0	CCDC108	219603789	1.000000	0.71417	0.997000	0.53966	0.514000	0.34195	3.898000	0.56281	2.567000	0.86603	0.557000	0.71058	CAG		PASS	0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		14	20	14	20	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223085966	223085966	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:223085966A>G	ENST00000350526.4	-	6	1069	c.933T>C	c.(931-933)tcT>tcC	p.S311S	PAX3_ENST00000344493.4_Silent_p.S311S|PAX3_ENST00000336840.6_Silent_p.S311S|PAX3_ENST00000392070.2_Silent_p.S311S|PAX3_ENST00000409551.3_Silent_p.S310S|PAX3_ENST00000392069.2_Silent_p.S311S|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	311					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.S311S(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)		TGGGCTGGTAAGAGGTCTCCG	0.507			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 - coding silent(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(931-933)TCT>TCC		paired box 3 isoform PAX3							217.0	226.0	223.0					2																	223085966		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:223085966A>G		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.933T>C	2.37:g.223085966A>G						PAX3_uc002vmt.1_Silent_p.S311S|PAX3_uc002vmy.1_Silent_p.S310S|PAX3_uc002vmv.1_Silent_p.S311S|PAX3_uc002vmw.1_Silent_p.S311S|PAX3_uc002vmx.1_Silent_p.S311S	p.S311S	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	1299	-		Renal(207;0.0183)	311					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.933T>C	CCDS42826.1																																																																																				PASS	0.507	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			59	144	59	144	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225638050	225638050	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:225638050G>C	ENST00000258390.7	-	53	6095	c.6028C>G	c.(6028-6030)Ccc>Gcc	p.P2010A	DOCK10_ENST00000409592.3_Missense_Mutation_p.P2004A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2010	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P517A(1)|p.P2008A(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCACGTAGGGGAACAGGTGA	0.438																																						uc010fwz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(6028-6030)CCC>GCC		dedicator of cytokinesis 10							160.0	146.0	150.0					2																	225638050		1967	4158	6125	SO:0001583	missense	55619						GTP binding	g.chr2:225638050G>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6028C>G	2.37:g.225638050G>C	ENSP00000258390:p.Pro2010Ala					DOCK10_uc002vob.2_Missense_Mutation_p.P2004A|DOCK10_uc002voa.2_Missense_Mutation_p.P666A	p.P2010A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	53	6267	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2010			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6028C>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214224|3.214224	0.58452|0.58452	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.50001|.	0.76;0.76|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.053145|0.053145	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77961|0.77961	0.4209|0.4209	M|M	0.83692|0.83692	2.655|2.655	0.51767|0.51767	D|D	0.999933|0.999933	B;B;P|.	0.44877|.	0.208;0.208;0.845|.	B;B;P|.	0.57324|.	0.4;0.4;0.818|.	T|T	0.79470|0.79470	-0.1790|-0.1790	10|6	0.66056|.	D|.	0.02|.	.|.	15.2172|15.2172	0.73277|0.73277	0.0:0.14:0.86:0.0|0.0:0.14:0.86:0.0	.|.	2010;2004;672|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	A|R	2004;2010;517|159	ENSP00000386694:P2004A;ENSP00000258390:P2010A|.	ENSP00000258390:P2010A|.	P|P	-|-	1|2	0|0	DOCK10|DOCK10	225346294|225346294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.513000|7.513000	0.81739|0.81739	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CCC|CCC		PASS	0.438	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			28	22	28	22	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228846483	228846483	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr2:228846483G>T	ENST00000392056.3	-	12	5099	c.5053C>A	c.(5053-5055)Cag>Aag	p.Q1685K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1656K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1685						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.Q1704K(1)|p.Q1685K(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATCCTTCTGCTCCTCATGC	0.448																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(5053-5055)CAG>AAG		sphingosine kinase type 1-interacting protein							105.0	93.0	97.0					2																	228846483		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846483G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5053C>A	2.37:g.228846483G>T	ENSP00000375909:p.Gln1685Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.Q1656K|SPHKAP_uc010zlx.1_3'UTR	p.Q1685K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5100	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1685					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.5053C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790584	0.16258	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	5.85	4.89	0.63831	A-kinase anchor 110kDa, C-terminal (1);	0.757438	0.12331	N	0.478346	T	0.06096	0.0158	L	0.36672	1.1	0.24985	N	0.991577	B;B	0.27013	0.166;0.001	B;B	0.25291	0.059;0.004	T	0.38887	-0.9640	10	0.22109	T	0.4	.	8.6993	0.34316	0.0:0.1885:0.5944:0.2171	.	1685;1656	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	1685;1656	ENSP00000375909:Q1685K;ENSP00000339886:Q1656K	ENSP00000339886:Q1656K	Q	-	1	0	SPHKAP	228554727	0.001000	0.12720	0.815000	0.32552	0.978000	0.69477	0.958000	0.29227	1.400000	0.46741	0.655000	0.94253	CAG		PASS	0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		15	27	15	27	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12187261	12187261	+	RNA	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:12187261G>T	ENST00000432424.2	+	0	782							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.G135C(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CCTGATCATTGGTATGCAGTA	0.557																																						uc003bwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(610-612)GGT>TGT		synapsin II isoform IIa							108.0	105.0	106.0					3																	12187261		2030	4210	6240			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12187261G>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.12187261G>T						SYN2_uc003bwl.1_Missense_Mutation_p.G204C	p.G204C	NM_133625	NP_598328	Q92777	SYN2_HUMAN			8	774	+			204					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.610G>T		.	.	.	.	.	.	.	.	.	.	G	26.3	4.729074	0.89390	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.56	4.56	0.56223	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	M	0.83312	2.635	0.45899	D	0.998744	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86433	0.1762	9	0.87932	D	0	-12.5778	17.5621	0.87910	0.0:0.0:1.0:0.0	.	204;204	Q92777;Q92777-2	SYN2_HUMAN;.	C	136	.	ENSP00000442512:G136C	G	+	1	0	SYN2	12162261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.484000	0.97940	2.371000	0.80710	0.650000	0.86243	GGT		PASS	0.557	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		6	62	6	62	---	---	---	---
AZI2	64343	broad.mit.edu	37	3	28379458	28379458	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:28379458G>T	ENST00000479665.1	-	4	940	c.409C>A	c.(409-411)Cag>Aag	p.Q137K	AZI2_ENST00000334100.6_Missense_Mutation_p.Q137K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Missense_Mutation_p.Q137K|AZI2_ENST00000457172.1_Missense_Mutation_p.Q137K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	137	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.Q137K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTCCTCAGCTGGAGGAGTTCT	0.333																																						uc003ceb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)CAG>AAG		5-azacytidine induced 2 isoform a							113.0	108.0	110.0					3																	28379458		2203	4300	6503	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28379458G>T	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.409C>A	3.37:g.28379458G>T	ENSP00000419371:p.Gln137Lys					AZI2_uc003cec.2_Missense_Mutation_p.Q25K|AZI2_uc003ced.2_Missense_Mutation_p.Q137K|AZI2_uc003cee.3_Missense_Mutation_p.Q137K|AZI2_uc003ceg.2_Missense_Mutation_p.Q137K|AZI2_uc011axd.1_Missense_Mutation_p.Q137K|AZI2_uc003cef.2_Missense_Mutation_p.Q137K	p.Q137K	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			4	941	-			137			Potential.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.409C>A	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890928	0.91889	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.66939	2.045	0.53005	D	0.999968	P;D;D;P	0.71674	0.944;0.996;0.998;0.693	P;D;D;B	0.78314	0.572;0.979;0.991;0.181	T	0.78819	-0.2054	9	0.59425	D	0.04	-7.0077	20.1663	0.98152	0.0:0.0:1.0:0.0	.	137;137;137;137	Q9H6S1-3;C9JB40;C9JVK8;Q9H6S1	.;.;.;AZI2_HUMAN	K	137	.	ENSP00000335609:Q137K	Q	-	1	0	AZI2	28354462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.265000	0.72534	2.773000	0.95371	0.585000	0.79938	CAG		PASS	0.333	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		4	21	4	21	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31725157	31725157	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:31725157G>C	ENST00000396556.2	-	8	1817	c.1695C>G	c.(1693-1695)ggC>ggG	p.G565G	OSBPL10_ENST00000438237.2_Silent_p.G501G	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	565					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.G565G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCACGGACATGCCCATGAACT	0.488																																						uc003cev.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1693-1695)GGC>GGG		oxysterol-binding protein-like protein 10							149.0	139.0	142.0					3																	31725157		2203	4300	6503	SO:0001819	synonymous_variant	114884				lipid transport		lipid binding	g.chr3:31725157G>C	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1695C>G	3.37:g.31725157G>C						OSBPL10_uc003ceu.1_Silent_p.G322G|OSBPL10_uc011axf.1_Silent_p.G501G	p.G565G	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	9	2076	-			565					B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	c.1695C>G	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089772	0.20390	.	.	ENSG00000144645	ENST00000429492	.	.	.	5.68	4.75	0.60458	.	.	.	.	.	T	0.61887	0.2383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57533	-0.7795	4	.	.	.	-26.3099	10.9924	0.47557	0.0:0.24:0.6309:0.1291	.	.	.	.	G	334	.	.	A	-	2	0	OSBPL10	31700161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.824000	0.27379	2.837000	0.97791	0.591000	0.81541	GCA		PASS	0.488	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			44	12	44	12	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872547	36872547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:36872547C>A	ENST00000429976.2	-	21	8642	c.8395G>T	c.(8395-8397)Gag>Tag	p.E2799*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E2249*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E2249*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2799							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E2242*(1)|p.E2249*(1)|p.E2799*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCACCTTCTCGTGGAAAAAT	0.532																																						uc003cgj.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(6745-6747)GAG>TAG		lupus brain antigen 1							215.0	217.0	217.0					3																	36872547		2089	4198	6287	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872547C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8395G>T	3.37:g.36872547C>A	ENSP00000416168:p.Glu2799*						p.E2249*	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	7047	-			2799					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.6745G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	47	13.795937	0.99763	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.48	3.58	0.41010	.	0.425809	0.21764	N	0.069465	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5157	0.11934	0.2879:0.5162:0.0:0.1958	.	.	.	.	X	2249;2799;2249	.	ENSP00000301807:E2249X	E	-	1	0	TRANK1	36847551	0.000000	0.05858	0.821000	0.32701	0.941000	0.58515	0.787000	0.26858	1.455000	0.47813	0.555000	0.69702	GAG		PASS	0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	101	4	101	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38263138	38263138	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:38263138T>C	ENST00000446845.1	+	6	932	c.560T>C	c.(559-561)gTt>gCt	p.V187A	OXSR1_ENST00000311806.3_Missense_Mutation_p.V187A					oxidative stress responsive 1									p.V187A(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGACCTTTGTTGGCACCCCT	0.383																																						uc003chy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(559-561)GTT>GCT		oxidative-stress responsive 1							198.0	197.0	197.0					3																	38263138		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38263138T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.560T>C	3.37:g.38263138T>C	ENSP00000415851:p.Val187Ala					OXSR1_uc010hhb.2_Missense_Mutation_p.V121A|OXSR1_uc010hha.1_Missense_Mutation_p.V119A	p.V187A	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	6	902	+			187			Protein kinase.			Missense_Mutation	SNP	ENST00000446845.1	37	c.560T>C		.	.	.	.	.	.	.	.	.	.	T	28.2	4.896839	0.91962	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.69435	-0.4;-0.4	5.26	5.26	0.73747	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	0.73845	0.3639	L	0.35341	1.055	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.91635	0.999;0.999	T	0.76906	-0.2786	10	0.72032	D	0.01	-19.6786	14.6683	0.68924	0.0:0.0:0.0:1.0	.	187;187	C9JIG9;O95747	.;OXSR1_HUMAN	A	187	ENSP00000415851:V187A;ENSP00000311713:V187A	ENSP00000311713:V187A	V	+	2	0	OXSR1	38238142	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.963000	0.87922	2.134000	0.65973	0.460000	0.39030	GTT		PASS	0.383	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		16	63	16	63	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888793	38888793	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:38888793T>C	ENST00000302328.3	-	26	4966	c.4768A>G	c.(4768-4770)Atc>Gtc	p.I1590V	SCN11A_ENST00000456224.3_Missense_Mutation_p.I1552V|SCN11A_ENST00000450244.1_Missense_Mutation_p.I1590V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1590					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1590V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAAGGAGATGATAATGTAA	0.433																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4768-4770)ATC>GTC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						125.0	124.0	124.0					3																	38888793		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888793T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4768A>G	3.37:g.38888793T>C	ENSP00000307599:p.Ile1590Val						p.I1590V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4967	-			1590			IV.|Helical; Name=S6 of repeat IV; (By similarity).		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4768A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	t	20.4	3.980074	0.74474	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98649	-5.05;-5.05;-5.05	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	L	0.33339	1.005	0.53688	D	0.999976	D	0.61697	0.99	P	0.58077	0.832	D	0.98797	1.0738	10	0.54805	T	0.06	.	15.2886	0.73849	0.0:0.0:0.0:1.0	.	1590	Q9UI33	SCNBA_HUMAN	V	1590;1590;1552	ENSP00000307599:I1590V;ENSP00000400945:I1590V;ENSP00000416757:I1552V	ENSP00000307599:I1590V	I	-	1	0	SCN11A	38863797	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.138000	0.64795	2.006000	0.58801	0.362000	0.22060	ATC		PASS	0.433	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		11	36	11	36	---	---	---	---
GLYCTK	132158	broad.mit.edu	37	3	52328291	52328291	+	IGR	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:52328291T>A	ENST00000436784.2	+	0	1982				GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|MIR135A1_ENST00000385191.1_RNA|GLYCTK-AS1_ENST00000472761.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase						protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TAGAATCACATAGGAATAAAA	0.597																																						hsa-mir-135a-1|MI0000452																			0					0															92.0	94.0	94.0					3																	52328291		1568	3582	5150	SO:0001628	intergenic_variant	406925							g.chr3:52328291T>A		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380		3.37:g.52328291T>A						GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddo.2_3'UTR|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddr.2_3'UTR|uc010hmf.2_RNA										-								Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	RNA	SNP	ENST00000436784.2	37	c.34T>A	CCDS2852.1																																																																																				PASS	0.597	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		7	44	7	44	---	---	---	---
KBTBD8	84541	broad.mit.edu	37	3	67054263	67054263	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:67054263T>G	ENST00000417314.2	+	3	921	c.872T>G	c.(871-873)tTt>tGt	p.F291C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.F265C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	291						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.F291C(1)|p.F265C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATCATATGTTTTGATGCTGCC	0.443																																						uc003dmy.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|breast(1)	4						c.(871-873)TTT>TGT		T-cell activation kelch repeat protein							116.0	112.0	114.0					3																	67054263		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67054263T>G	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.872T>G	3.37:g.67054263T>G	ENSP00000401878:p.Phe291Cys					KBTBD8_uc011bfv.1_Intron	p.F291C	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	925	+		Lung NSC(201;0.0765)	291					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.872T>G	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386481	0.61956	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.73363	-0.73;-0.74	4.58	4.58	0.56647	.	0.096624	0.64402	D	0.000001	T	0.75398	0.3844	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74589	-0.3615	9	.	.	.	.	14.2294	0.65882	0.0:0.0:0.0:1.0	.	291	Q8NFY9	KBTB8_HUMAN	C	265;291	ENSP00000295568:F265C;ENSP00000401878:F291C	.	F	+	2	0	KBTBD8	67136953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	1.807000	0.52817	0.455000	0.32223	TTT		PASS	0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		17	54	17	54	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	79174687	79174687	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:79174687G>T	ENST00000464233.1	-	3	204	c.91C>A	c.(91-93)Cct>Act	p.P31T		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	31					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P31T(2)|p.P8T(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACATCTTCAGGGTCTGTCGGA	0.502																																						uc003dqe.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(91-93)CCT>ACT		roundabout 1 isoform a							116.0	115.0	116.0					3																	79174687		2043	4200	6243	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79174687G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.91C>A	3.37:g.79174687G>T	ENSP00000420321:p.Pro31Thr						p.P31T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	3	299	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	31			Extracellular (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.91C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504389	0.44558	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.60171	0.21	5.34	4.23	0.50019	.	0.274240	0.26334	N	0.024964	T	0.28962	0.0719	N	0.08118	0	0.80722	D	1	B	0.23377	0.084	B	0.18871	0.023	T	0.19712	-1.0297	9	.	.	.	.	3.9286	0.09275	0.3356:0.0:0.6644:0.0	.	31	Q9Y6N7	ROBO1_HUMAN	T	31	ENSP00000420321:P31T	.	P	-	1	0	ROBO1	79257377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.853000	0.55941	2.652000	0.90054	0.591000	0.81541	CCT		PASS	0.502	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		10	7	10	7	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88190171	88190171	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:88190171C>G	ENST00000309495.5	+	1	1918	c.1711C>G	c.(1711-1713)Ctc>Gtc	p.L571V	CGGBP1_ENST00000462901.1_5'UTR	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	571					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.L571V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATGTCAGACACTCTTTGGATT	0.348																																						uc003dqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1711-1713)CTC>GTC		zinc finger protein 654							61.0	58.0	59.0					3																	88190171		1847	4094	5941	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88190171C>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1711C>G	3.37:g.88190171C>G	ENSP00000312141:p.Leu571Val					CGGBP1_uc003dqu.2_5'UTR	p.L571V	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1910	+		Lung NSC(201;0.0283)	571					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1711C>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	17.94	3.511863	0.64522	.	.	ENSG00000175105	ENST00000309495	T	0.24151	1.87	5.3	5.3	0.74995	.	.	.	.	.	T	0.36771	0.0979	L	0.32530	0.975	0.35280	D	0.781274	D	0.76494	0.999	D	0.66351	0.943	T	0.47249	-0.9132	9	0.72032	D	0.01	.	11.4336	0.50056	0.0:0.9178:0.0:0.0822	.	571	Q8IZM8	ZN654_HUMAN	V	571	ENSP00000312141:L571V	ENSP00000312141:L571V	L	+	1	0	ZNF654	88272861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.210000	0.58500	2.457000	0.83068	0.639000	0.83563	CTC		PASS	0.348	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		8	26	8	26	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108300321	108300321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:108300321C>A	ENST00000295746.8	-	5	566	c.490G>T	c.(490-492)Gga>Tga	p.G164*	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Nonsense_Mutation_p.G5*	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	164					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G164*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCAATAATCCTAGACAAGGC	0.289																																						uc003dxb.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(490-492)GGA>TGA		p90 autoantigen							121.0	123.0	122.0					3																	108300321		2203	4299	6502	SO:0001587	stop_gained	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108300321C>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.490G>T	3.37:g.108300321C>A	ENSP00000295746:p.Gly164*					KIAA1524_uc003dxc.1_Nonsense_Mutation_p.G5*|KIAA1524_uc010hpw.1_Nonsense_Mutation_p.G5*	p.G164*	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			5	759	-			164					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Nonsense_Mutation	SNP	ENST00000295746.8	37	c.490G>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367064	0.82463	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.094	20.0377	0.97569	0.0:1.0:0.0:0.0	.	.	.	.	X	5;164	.	ENSP00000295746:G164X	G	-	1	0	KIAA1524	109783011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.780000	0.75063	2.822000	0.97130	0.650000	0.86243	GGA		PASS	0.289	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		16	23	16	23	---	---	---	---
POPDC2	64091	broad.mit.edu	37	3	119367422	119367422	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:119367422G>A	ENST00000264231.3	-	3	860	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.L232F|POPDC2_ENST00000538678.1_Missense_Mutation_p.L232F|POPDC2_ENST00000493094.1_Missense_Mutation_p.L232F	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	232					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.L232F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GCCGAGAAGAGGCAGGAGATG	0.507																																						uc003ecx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(694-696)CTC>TTC		popeye protein 2							64.0	62.0	63.0					3																	119367422		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119367422G>A	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.694C>T	3.37:g.119367422G>A	ENSP00000264231:p.Leu232Phe					POPDC2_uc010hqw.1_Missense_Mutation_p.L232F|POPDC2_uc003ecy.1_Missense_Mutation_p.L50F	p.L232F	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	3	828	-			232					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.694C>T	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166214	0.78339	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.75	4.75	0.60458	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.066293	0.64402	D	0.000008	T	0.60971	0.2310	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.65417	-0.6173	10	0.72032	D	0.01	.	17.9361	0.89012	0.0:0.0:1.0:0.0	.	232;232	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	F	232	ENSP00000264231:L232F;ENSP00000417250:L232F;ENSP00000420715:L232F;ENSP00000438271:L232F	ENSP00000264231:L232F	L	-	1	0	POPDC2	120850112	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.342000	0.72982	2.454000	0.82982	0.462000	0.41574	CTC		PASS	0.507	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		8	37	8	37	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121417220	121417220	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:121417220T>C	ENST00000340645.5	-	13	2260	c.2135A>G	c.(2134-2136)gAt>gGt	p.D712G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D717G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	712					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D712G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTTTCTCATCTAAATTTTT	0.363																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(2134-2136)GAT>GGT		golgi autoantigen, golgin subfamily b,							92.0	88.0	89.0					3																	121417220		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417220T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2135A>G	3.37:g.121417220T>C	ENSP00000341848:p.Asp712Gly					GOLGB1_uc010hrc.2_Missense_Mutation_p.D717G|GOLGB1_uc003eej.3_Missense_Mutation_p.D678G|GOLGB1_uc011bjm.1_Missense_Mutation_p.D598G|GOLGB1_uc010hrd.1_Missense_Mutation_p.D676G	p.D712G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2261	-			712			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2135A>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.731|9.731	1.162273|1.162273	0.21538|0.21538	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.22336|.	2.54;2.54;1.96|.	5.72|5.72	1.89|1.89	0.25635|0.25635	.|.	0.306169|.	0.27686|.	N|.	0.018267|.	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.35414|0.35414	1.06|1.06	0.24944|0.24944	N|N	0.991831|0.991831	B;P;B;P;B|.	0.45531|.	0.01;0.86;0.009;0.86;0.004|.	B;P;B;P;B|.	0.44561|.	0.006;0.453;0.013;0.453;0.006|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|5	0.27082|.	T|.	0.32|.	.|.	4.6447|4.6447	0.12566|0.12566	0.0:0.1962:0.1688:0.6351|0.0:0.1962:0.1688:0.6351	.|.	637;676;717;717;712|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	G|V	712;717;676;524|583	ENSP00000341848:D712G;ENSP00000377275:D717G;ENSP00000418231:D676G|.	ENSP00000341848:D712G|.	D|M	-|-	2|1	0|0	GOLGB1|GOLGB1	122899910|122899910	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.209000|0.209000	0.17435|0.17435	1.014000|1.014000	0.39417|0.39417	0.533000|0.533000	0.62120|0.62120	GAT|ATG		PASS	0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		18	25	18	25	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123382998	123382998	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:123382998C>T	ENST00000475616.1	-	20	3938	c.3939G>A	c.(3937-3939)gaG>gaA	p.E1313E	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000354792.5_Silent_p.E113E|MYLK_ENST00000360772.3_Silent_p.E1313E|MYLK_ENST00000360304.3_Silent_p.E1313E|MYLK_ENST00000346322.5_Silent_p.E1244E|MYLK_ENST00000359169.1_Silent_p.E1313E			Q15746	MYLK_HUMAN	myosin light chain kinase	1313	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E1313E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAGCTTGTTCTCCACCAGCA	0.632																																						uc003ego.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(3937-3939)GAG>GAA		myosin light chain kinase isoform 1							147.0	142.0	143.0					3																	123382998		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123382998C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3939G>A	3.37:g.123382998C>T						MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Silent_p.E113E|MYLK_uc011bjw.1_Silent_p.E1313E|MYLK_uc003egp.2_Silent_p.E1244E|MYLK_uc003egq.2_Silent_p.E1313E|MYLK_uc003egr.2_Silent_p.E1244E|MYLK_uc003egs.2_Silent_p.E1137E	p.E1313E	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4221	-		Lung NSC(201;0.0496)	1313			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3939G>A	CCDS46896.1																																																																																				PASS	0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		12	60	12	60	---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	128060451	128060451	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:128060451G>A	ENST00000254730.6	+	5	1216	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.V333M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	388					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.V388M(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GACACCAGCAGTGACAGACAA	0.537																																						uc003eki.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)GTG>ATG		eukaryotic elongation factor,							42.0	44.0	43.0					3																	128060451		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060451G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1162G>A	3.37:g.128060451G>A	ENSP00000254730:p.Val388Met					EEFSEC_uc003ekj.2_Missense_Mutation_p.V333M	p.V388M	NM_021937	NP_068756	P57772	SELB_HUMAN			5	1200	+			388					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1162G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219259	0.01542	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.56103	0.91;0.48	3.04	1.11	0.20524	.	1.685200	0.03831	N	0.269139	T	0.37705	0.1013	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.22871	-1.0204	10	0.41790	T	0.15	-14.3009	5.6072	0.17387	0.1162:0.0:0.6894:0.1944	.	333;388	C9J8T0;P57772	.;SELB_HUMAN	M	388;333	ENSP00000254730:V388M;ENSP00000417660:V333M	ENSP00000254730:V388M	V	+	1	0	EEFSEC	129543141	0.003000	0.15002	0.000000	0.03702	0.010000	0.07245	1.274000	0.33132	0.278000	0.22164	0.591000	0.81541	GTG		PASS	0.537	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		9	18	9	18	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140281693	140281693	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:140281693C>T	ENST00000458420.3	+	14	2443	c.2253C>T	c.(2251-2253)caC>caT	p.H751H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	751					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.H751H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCTACATCACATCCGCTACC	0.552										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2251-2253)CAC>CAT		calsyntenin 2 precursor							58.0	56.0	57.0					3																	140281693		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281693C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2253C>T	3.37:g.140281693C>T		HNSCC(16;0.037)					p.H751H	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			14	2443	+			751			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2253C>T	CCDS3112.1																																																																																				PASS	0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		5	21	5	21	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681705	142681705	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:142681705G>A	ENST00000340634.3	-	1	473	c.474C>T	c.(472-474)taC>taT	p.Y158Y	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	158						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y158*(1)|p.Y158Y(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGATGGACGCGTAGTCCAGGT	0.612																																						uc003evg.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(472-474)TAC>TAT		progestin and adipoQ receptor family member IX							41.0	38.0	39.0					3																	142681705		2203	4300	6503	SO:0001819	synonymous_variant	344838					integral to membrane	receptor activity	g.chr3:142681705G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.474C>T	3.37:g.142681705G>A						PAQR9_uc003evf.1_5'Flank	p.Y158Y	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	474	-			158			Cytoplasmic (Potential).		Q147T6	Silent	SNP	ENST00000340634.3	37	c.474C>T	CCDS3128.1																																																																																				PASS	0.612	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		6	14	6	14	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148614379	148614379	+	Missense_Mutation	SNP	G	G	T	rs374679149		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:148614379G>T	ENST00000296046.3	+	11	1191	c.1139G>T	c.(1138-1140)cGa>cTa	p.R380L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	380					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R380L(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGAGCTCCGAGATAAAGGC	0.418																																						uc003ewm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1138-1140)CGA>CTA		carboxypeptidase A3 precursor							87.0	88.0	87.0					3																	148614379		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148614379G>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1139G>T	3.37:g.148614379G>T	ENSP00000296046:p.Arg380Leu						p.R380L	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1191	+			380					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.1139G>T	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334042	0.81801	.	.	ENSG00000163751	ENST00000296046	T	0.34275	1.37	5.52	3.73	0.42828	Peptidase M14, carboxypeptidase A (2);	0.060265	0.64402	D	0.000002	T	0.72661	0.3488	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79983	-0.1573	10	0.87932	D	0	.	11.1417	0.48406	0.1527:0.0:0.8473:0.0	.	380	P15088	CBPA3_HUMAN	L	380	ENSP00000296046:R380L	ENSP00000296046:R380L	R	+	2	0	CPA3	150097069	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.785000	0.55424	0.701000	0.31803	0.591000	0.81541	CGA		PASS	0.418	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		4	76	4	76	---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158363992	158363992	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:158363992C>A	ENST00000486715.1	+	3	630	c.273C>A	c.(271-273)tcC>tcA	p.S91S	GFM1_ENST00000264263.5_Silent_p.S91S|GFM1_ENST00000478576.1_Silent_p.S91S	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.S91S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCATGGATTCCATGGAACTAG	0.413																																						uc003fce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(271-273)TCC>TCA		G elongation factor, mitochondrial 1 precursor							184.0	172.0	176.0					3																	158363992		2203	4300	6503	SO:0001819	synonymous_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158363992C>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.273C>A	3.37:g.158363992C>A						GFM1_uc003fcd.2_Silent_p.S91S|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.S3S	p.S91S	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		3	380	+			91						Silent	SNP	ENST00000486715.1	37	c.273C>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210574	0.79240	.	.	ENSG00000079257	ENST00000482640	.	.	.	5.53	4.64	0.57946	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58538	-0.7619	4	.	.	.	1.2252	9.9178	0.41446	0.2365:0.5248:0.2388:0.0	.	.	.	.	L	123	.	.	W	-	2	0	LXN	159846686	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.587000	0.23909	1.293000	0.44690	0.655000	0.94253	TGG		PASS	0.413	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		5	76	5	76	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167184891	167184891	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:167184891T>C	ENST00000476257.1	-	4	728	c.430A>G	c.(430-432)Aag>Gag	p.K144E	SERPINI2_ENST00000471111.1_Missense_Mutation_p.K144E|SERPINI2_ENST00000461846.1_Missense_Mutation_p.K144E|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000264677.4_Missense_Mutation_p.K144E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	144					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K144E(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GCACAAGCCTTTGCATCTTGA	0.358																																						uc003fer.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(430-432)AAG>GAG		serpin peptidase inhibitor, clade I (pancpin),							99.0	99.0	99.0					3																	167184891		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167184891T>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.430A>G	3.37:g.167184891T>C	ENSP00000420621:p.Lys144Glu					SERPINI2_uc003fes.1_Missense_Mutation_p.K154E|SERPINI2_uc003fet.1_Missense_Mutation_p.K144E	p.K144E	NM_006217	NP_006208	O75830	SPI2_HUMAN			2	488	-			144						Missense_Mutation	SNP	ENST00000476257.1	37	c.430A>G	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810100	0.32053	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	T;T;T;T;T;T	0.80738	-0.61;-0.61;-0.61;-0.61;-0.61;-1.41	5.7	5.7	0.88788	Serpin domain (3);	0.217088	0.47455	D	0.000234	T	0.69993	0.3173	N	0.11818	0.18	0.39539	D	0.96879	P;P	0.43938	0.822;0.822	P;P	0.48368	0.575;0.575	T	0.69537	-0.5119	10	0.02654	T	1	.	15.9823	0.80121	0.0:0.0:0.0:1.0	.	144;144	B4DDY9;O75830	.;SPI2_HUMAN	E	144;144;144;144;144;129	ENSP00000420621:K144E;ENSP00000417692:K144E;ENSP00000264677:K144E;ENSP00000419407:K144E;ENSP00000417752:K144E;ENSP00000419255:K129E	ENSP00000264677:K144E	K	-	1	0	SERPINI2	168667585	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	2.405000	0.44548	2.174000	0.68829	0.533000	0.62120	AAG		PASS	0.358	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		9	46	9	46	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182679132	182679132	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:182679132T>C	ENST00000292782.4	-	4	555	c.402A>G	c.(400-402)atA>atG	p.I134M	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.I119M	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	134	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.			I -> T (in Ref. 2; AAL78673). {ECO:0000305}.		ubiquitin ligase complex (GO:0000151)		p.I134M(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTAGTTTTTCTATGCTGTCAC	0.308																																						uc003fld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)ATA>ATG		RP42 homolog							261.0	290.0	280.0					3																	182679132		2203	4300	6503	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182679132T>C	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.402A>G	3.37:g.182679132T>C	ENSP00000292782:p.Ile134Met					DCUN1D1_uc011bqn.1_Translation_Start_Site	p.I134M	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	451	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		134	I -> T (in Ref. 2; AAL78673).		DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.402A>G	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545209	0.45280	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606	.	.	.	5.24	5.24	0.73138	Domain of unknown function DUF298 (2);	0.039273	0.85682	D	0.000000	T	0.59004	0.2162	L	0.50847	1.595	0.80722	D	1	B	0.16396	0.017	B	0.21917	0.037	T	0.57458	-0.7808	9	0.49607	T	0.09	-10.5499	15.4344	0.75133	0.0:0.0:0.0:1.0	.	134	Q96GG9	DCNL1_HUMAN	M	134;94;119;119	.	ENSP00000292782:I134M	I	-	3	3	DCUN1D1	184161826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.605000	0.61119	2.115000	0.64714	0.482000	0.46254	ATA		PASS	0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		105	350	105	350	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298901	184298901	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:184298901A>G	ENST00000330394.2	+	14	3132	c.2680A>G	c.(2680-2682)Aag>Gag	p.K894E	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	894	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.K894E(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TACCCTGGACAAGCTCATCCG	0.592																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2680-2682)AAG>GAG		ephrin receptor EphB3 precursor							84.0	95.0	92.0					3																	184298901		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298901A>G	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2680A>G	3.37:g.184298901A>G	ENSP00000332118:p.Lys894Glu						p.K894E	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		14	3117	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		894			Cytoplasmic (Potential).|Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2680A>G	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693112	0.68271	.	.	ENSG00000182580	ENST00000330394	T	0.61859	0.07	3.9	3.9	0.45041	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	N	0.11364	0.135	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.65421	-0.6172	10	0.87932	D	0	.	12.6149	0.56571	1.0:0.0:0.0:0.0	.	894	P54753	EPHB3_HUMAN	E	894	ENSP00000332118:K894E	ENSP00000332118:K894E	K	+	1	0	EPHB3	185781595	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.331000	0.96430	1.740000	0.51718	0.391000	0.25812	AAG		PASS	0.592	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		43	117	43	117	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184612617	184612617	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:184612617G>T	ENST00000437079.3	+	23	2079	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	VPS8_ENST00000446204.2_Intron|VPS8_ENST00000436792.2_Missense_Mutation_p.M634I|VPS8_ENST00000287546.4_Missense_Mutation_p.M636I	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	636							zinc ion binding (GO:0008270)	p.M636I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCCAAGTAATGAAAGACTTGA	0.358																																						uc003fpb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1900-1902)ATG>ATT		vacuolar protein sorting 8 homolog isoform b							56.0	52.0	53.0					3																	184612617		1820	4072	5892	SO:0001583	missense	23355						zinc ion binding	g.chr3:184612617G>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1908G>T	3.37:g.184612617G>T	ENSP00000397879:p.Met636Ile					VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Missense_Mutation_p.M63I	p.M634I	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		22	2073	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		636					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.1902G>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580138	0.65992	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792	T;T;T	0.19806	2.12;2.12;2.12	5.44	5.44	0.79542	Quinonprotein alcohol dehydrogenase-like (1);	0.034322	0.85682	D	0.000000	T	0.28599	0.0708	M	0.63428	1.95	0.80722	D	1	P;B	0.36086	0.536;0.42	B;B	0.38954	0.286;0.143	T	0.02567	-1.1140	10	0.23302	T	0.38	-10.9105	19.2465	0.93904	0.0:0.0:1.0:0.0	.	636;634	Q8N3P4;Q8N3P4-3	VPS8_HUMAN;.	I	636;636;634	ENSP00000287546:M636I;ENSP00000397879:M636I;ENSP00000404704:M634I	ENSP00000287546:M636I	M	+	3	0	VPS8	186095311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.010000	0.88615	2.557000	0.86248	0.585000	0.79938	ATG		PASS	0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		13	32	13	32	---	---	---	---
ZDHHC19	131540	broad.mit.edu	37	3	195937539	195937539	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:195937539G>T	ENST00000296326.3	-	2	295	c.216C>A	c.(214-216)acC>acA	p.T72T	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	72						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.T72T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GACTGAAGAAGGTAAGGACAA	0.557																																						uc003fwc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(214-216)ACC>ACA		zinc finger, DHHC domain containing 19							72.0	79.0	76.0					3																	195937539		1991	4173	6164	SO:0001819	synonymous_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195937539G>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.216C>A	3.37:g.195937539G>T						ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_Intron|ZDHHC19_uc010iab.2_RNA	p.T72T	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	2	330	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		72			Helical; (Potential).		A8MSY6|B3KVI1	Silent	SNP	ENST00000296326.3	37	c.216C>A	CCDS43190.1																																																																																				PASS	0.557	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		5	47	5	47	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25677955	25677955	+	Missense_Mutation	SNP	C	C	T	rs115500754		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:25677955C>T	ENST00000382051.3	+	13	1707	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552W|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552W	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.R553W(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGCCGGCTGGCGGGTGCTGGT	0.597			T	ROS1	NSCLC																																	uc003grr.2				Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(1657-1659)CGG>TGG		solute carrier family 34 (sodium phosphate),							119.0	114.0	116.0					4																	25677955		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677955C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1657C>T	4.37:g.25677955C>T	ENSP00000371483:p.Arg553Trp					SLC34A2_uc003grs.2_Missense_Mutation_p.R552W|SLC34A2_uc010iev.2_Missense_Mutation_p.R552W	p.R553W	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1738	+		Breast(46;0.0503)	553			Helical; Name=M8; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1657C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008060	0.35415	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.22539	1.95;1.95;1.95	5.18	4.33	0.51752	.	0.480143	0.24359	N	0.039213	T	0.09158	0.0226	N	0.11064	0.09	0.26620	N	0.972675	P;B	0.40431	0.717;0.445	B;B	0.26202	0.067;0.022	T	0.11591	-1.0581	10	0.36615	T	0.2	-9.584	12.295	0.54840	0.1338:0.7375:0.1287:0.0	.	552;553	O95436-2;O95436	.;NPT2B_HUMAN	W	552;553;552	ENSP00000425501:R552W;ENSP00000371483:R553W;ENSP00000423021:R552W	ENSP00000371483:R553W	R	+	1	2	SLC34A2	25287053	0.932000	0.31603	0.919000	0.36401	0.966000	0.64601	2.026000	0.41069	1.298000	0.44778	0.561000	0.74099	CGG		PASS	0.597	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		13	38	13	38	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36093640	36093640	+	Missense_Mutation	SNP	G	G	A	rs143499964		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:36093640G>A	ENST00000303965.4	-	28	4777	c.4288C>T	c.(4288-4290)Cgg>Tgg	p.R1430W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1430					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R1430W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGTGTACTCCGGTCTGTAAAG	0.308																																						uc003gsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4288-4290)CGG>TGG		ArfGAP with RhoGAP domain, ankyrin repeat and PH		G	TRP/ARG	0,4406		0,0,2203	154.0	154.0	154.0		4288	3.1	0.3	4	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARAP2	NM_015230.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1430/1705	36093640	1,13005	2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36093640G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4288C>T	4.37:g.36093640G>A	ENSP00000302895:p.Arg1430Trp						p.R1430W	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			28	4626	-			1430					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4288C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675498	0.29783	0.0	1.16E-4	ENSG00000047365	ENST00000303965	T	0.08370	3.1	5.58	3.09	0.35607	.	0.456019	0.24483	N	0.038126	T	0.10165	0.0249	L	0.44542	1.39	0.23665	N	0.997166	D	0.62365	0.991	P	0.46479	0.518	T	0.12372	-1.0550	10	0.40728	T	0.16	.	10.8503	0.46767	0.0:0.0:0.3192:0.6808	.	1430	Q8WZ64	ARAP2_HUMAN	W	1430	ENSP00000302895:R1430W	ENSP00000302895:R1430W	R	-	1	2	ARAP2	35770035	0.989000	0.36119	0.338000	0.25549	0.030000	0.12068	2.286000	0.43496	0.454000	0.26884	-0.262000	0.10625	CGG		PASS	0.308	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		14	37	14	37	---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39241945	39241945	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:39241945T>C	ENST00000399820.3	+	21	2566	c.2412T>C	c.(2410-2412)ggT>ggC	p.G804G	WDR19_ENST00000288634.7_Silent_p.G644G	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	804					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.G804G(1)		large_intestine(1)	1						GAATAACAGGTGATAATAAGG	0.254																																						uc003gtv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(2410-2412)GGT>GGC		WD repeat domain 19							77.0	77.0	77.0					4																	39241945		1740	3897	5637	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39241945T>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2412T>C	4.37:g.39241945T>C						WDR19_uc011byi.1_Silent_p.G644G|WDR19_uc003gtw.1_Silent_p.G401G	p.G804G	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			21	2566	+			804			TPR 2.		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.2412T>C	CCDS47042.1																																																																																				PASS	0.254	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			5	2	5	2	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39878748	39878748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:39878748G>T	ENST00000303538.8	-	19	2557	c.2018C>A	c.(2017-2019)tCg>tAg	p.S673*		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.S673*(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGAGTGGAACGAGGTAGGATG	0.373																																						uc003guv.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2017-2019)TCG>TAG		PDS5, regulator of cohesion maintenance, homolog							139.0	125.0	129.0					4																	39878748		1862	4097	5959	SO:0001587	stop_gained	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39878748G>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2018C>A	4.37:g.39878748G>T	ENSP00000303427:p.Ser673*					PDS5A_uc010ifo.2_Nonsense_Mutation_p.S633*	p.S673*	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			19	2558	-			673						Nonsense_Mutation	SNP	ENST00000303538.8	37	c.2018C>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	44	10.976751	0.99497	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.04	5.04	0.67666	.	0.060462	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1493	18.7568	0.91836	0.0:0.0:1.0:0.0	.	.	.	.	X	673	.	.	S	-	2	0	PDS5A	39555143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.006000	0.88564	2.501000	0.84356	0.591000	0.81541	TCG		PASS	0.373	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		5	191	5	191	---	---	---	---
RHOH	399	broad.mit.edu	37	4	40245213	40245213	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:40245213G>A	ENST00000381799.5	+	3	931	c.207G>A	c.(205-207)cgG>cgA	p.R69R	RHOH_ENST00000505618.1_Silent_p.R69R	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	69					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.R69R(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GAAGCATCCGGCCCCTGTCCT	0.542																																						uc003guz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(205-207)CGG>CGA		ras homolog gene family, member H precursor							89.0	81.0	84.0					4																	40245213		2203	4300	6503	SO:0001819	synonymous_variant	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245213G>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.207G>A	4.37:g.40245213G>A							p.R69R	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	931	+			69						Silent	SNP	ENST00000381799.5	37	c.207G>A	CCDS3458.1																																																																																				PASS	0.542	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		8	46	8	46	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42965024	42965024	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:42965024G>A	ENST00000399770.2	+	2	500	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	167	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.R167H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAAAACCATCGCGTAAAATTT	0.428																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)CGC>CAC		glutaredoxin, cysteine rich 1							200.0	200.0	200.0					4																	42965024		1864	4098	5962	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42965024G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.500G>A	4.37:g.42965024G>A	ENSP00000382670:p.Arg167His						p.R167H	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			2	500	+			167			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.500G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747151	0.89663	.	.	ENSG00000215203	ENST00000399770	T	0.30714	1.52	5.96	5.96	0.96718	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000006	T	0.55130	0.1901	M	0.65320	2	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.42015	-0.9476	10	0.37606	T	0.19	-6.8777	19.3889	0.94570	0.0:0.0:1.0:0.0	.	167	A8MXD5	GRCR1_HUMAN	H	167	ENSP00000382670:R167H	ENSP00000382670:R167H	R	+	2	0	GRXCR1	42659781	1.000000	0.71417	0.941000	0.38009	0.700000	0.40528	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CGC		PASS	0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		68	233	68	233	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46307592	46307592	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:46307592G>T	ENST00000510861.1	-	7	869	c.696C>A	c.(694-696)tcC>tcA	p.S232S	GABRA2_ENST00000381620.4_Silent_p.S232S|GABRA2_ENST00000356504.1_Silent_p.S232S|GABRA2_ENST00000515082.1_Silent_p.S232S|GABRA2_ENST00000514090.1_Silent_p.S232S|GABRA2_ENST00000507069.1_Silent_p.S232S|GABRA2_ENST00000540012.1_Silent_p.S177S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	232					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.S232S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AACCTGTACTGGATTTAATTG	0.373																																						uc003gxc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(694-696)TCC>TCA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						97.0	101.0	100.0					4																	46307592		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46307592G>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.696C>A	4.37:g.46307592G>T						GABRA2_uc010igc.2_Silent_p.S232S|GABRA2_uc011bzc.1_Silent_p.S177S|GABRA2_uc003gxe.2_Silent_p.S232S	p.S232S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			6	1369	-			232			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.696C>A	CCDS3471.1																																																																																				PASS	0.373	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			5	94	5	94	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62542559	62542559	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:62542559C>A	ENST00000514591.1	+	5	614	c.285C>A	c.(283-285)acC>acA	p.T95T	LPHN3_ENST00000514996.1_Silent_p.T95T|LPHN3_ENST00000509896.1_Silent_p.T163T|LPHN3_ENST00000512091.2_Silent_p.T95T|LPHN3_ENST00000506720.1_Silent_p.T163T|LPHN3_ENST00000514157.1_Silent_p.T95T|LPHN3_ENST00000506700.1_Silent_p.T95T|LPHN3_ENST00000506746.1_Silent_p.T163T|LPHN3_ENST00000507164.1_Silent_p.T163T|LPHN3_ENST00000511324.1_Silent_p.T163T|LPHN3_ENST00000508946.1_Silent_p.T95T|LPHN3_ENST00000504896.1_Silent_p.T95T|LPHN3_ENST00000545650.1_Silent_p.T95T|LPHN3_ENST00000507625.1_Silent_p.T163T|LPHN3_ENST00000508693.1_Silent_p.T163T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	95	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.T95T(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACAGAACCCAGTGTGCAG	0.373																																						uc010ihh.2																			3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(283-285)ACC>ACA		latrophilin 3 precursor							222.0	217.0	218.0					4																	62542559		1945	4171	6116	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62542559C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.285C>A	4.37:g.62542559C>A						LPHN3_uc003hcq.3_Silent_p.T95T|LPHN3_uc010ihg.1_Silent_p.T163T	p.T95T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			3	458	+			95			SUEL-type lectin.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.285C>A	CCDS54768.1																																																																																				PASS	0.373	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			54	105	54	105	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69100335	69100335	+	Missense_Mutation	SNP	A	A	T	rs138592272		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:69100335A>T	ENST00000332644.5	-	5	476	c.315T>A	c.(313-315)aaT>aaA	p.N105K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	105	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.N105K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACCATTGGCATTAGGCCTAG	0.333																																						uc003hdw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)AAT>AAA		transmembrane protease, serine 11B							81.0	75.0	77.0					4																	69100335		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69100335A>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.315T>A	4.37:g.69100335A>T	ENSP00000330475:p.Asn105Lys						p.N105K	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			5	451	-			105			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.315T>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439669	0.25900	.	.	ENSG00000185873	ENST00000332644	T	0.32272	1.46	5.02	-4.19	0.03835	SEA (2);	2.555020	0.01672	N	0.025673	T	0.14570	0.0352	N	0.14661	0.345	0.09310	N	1	B	0.27791	0.189	B	0.25614	0.062	T	0.10154	-1.0642	10	0.36615	T	0.2	.	0.3507	0.00348	0.2774:0.1515:0.2764:0.2947	.	105	Q86T26	TM11B_HUMAN	K	105	ENSP00000330475:N105K	ENSP00000330475:N105K	N	-	3	2	TMPRSS11B	68782930	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.082000	0.14847	-0.257000	0.09459	0.533000	0.62120	AAT		PASS	0.333	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		26	23	26	23	---	---	---	---
SDAD1	55153	broad.mit.edu	37	4	76911921	76911921	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:76911921G>C	ENST00000356260.5	-	1	192	c.74C>G	c.(73-75)cCg>cGg	p.P25R	SDAD1_ENST00000395711.4_Missense_Mutation_p.P25R|RP11-630D6.5_ENST00000501239.2_RNA	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	25					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.P25R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGTAGGCCGGCGGGTCTCG	0.597																																						uc003hje.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(73-75)CCG>CGG		SDA1 domain containing 1							99.0	103.0	102.0					4																	76911921		1968	4142	6110	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76911921G>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.74C>G	4.37:g.76911921G>C	ENSP00000348596:p.Pro25Arg					SDAD1_uc003hjf.3_5'UTR|SDAD1_uc011cbr.1_Missense_Mutation_p.P25R	p.P25R	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		1	193	-			25					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.74C>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522186	0.44866	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.73575	-0.76;-0.76	4.81	4.81	0.61882	Armadillo-type fold (1);	0.242632	0.34133	U	0.004232	T	0.61825	0.2378	N	0.25890	0.77	0.28729	N	0.902597	B;B	0.28880	0.226;0.108	B;B	0.22386	0.039;0.039	T	0.59418	-0.7458	10	0.39692	T	0.17	-4.118	15.4213	0.75015	0.0:0.0:1.0:0.0	.	25;25	E7EW05;Q9NVU7	.;SDA1_HUMAN	R	25	ENSP00000348596:P25R;ENSP00000379061:P25R	ENSP00000348596:P25R	P	-	2	0	SDAD1	77130945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.702000	0.54800	2.490000	0.84030	0.462000	0.41574	CCG		PASS	0.597	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		32	42	32	42	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119952527	119952527	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:119952527C>A	ENST00000429713.2	+	4	2779	c.2597C>A	c.(2596-2598)cCa>cAa	p.P866Q	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P866Q|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P866Q|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	866						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.P866Q(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AATGAGCTTCCAGGAATGAGT	0.527																																						uc003icm.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2596-2598)CCA>CAA		synaptopodin 2 isoform b							119.0	120.0	120.0					4																	119952527		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952527C>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2597C>A	4.37:g.119952527C>A	ENSP00000395143:p.Pro866Gln					SYNPO2_uc010ina.2_Missense_Mutation_p.P866Q|SYNPO2_uc010inb.2_Missense_Mutation_p.P866Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P794Q	p.P866Q	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2793	+			866					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2597C>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335097	0.81801	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.12361	2.69;2.83;2.72	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.36635	0.0974	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.83275	0.992;0.996;0.992;0.991	T	0.00613	-1.1644	9	.	.	.	-17.2385	19.9596	0.97236	0.0:1.0:0.0:0.0	.	866;866;866;866	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	Q	866	ENSP00000306015:P866Q;ENSP00000395143:P866Q;ENSP00000390965:P866Q	.	P	+	2	0	SYNPO2	120171975	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.975000	0.70475	2.726000	0.93360	0.655000	0.94253	CCA		PASS	0.527	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			9	61	9	61	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123260427	123260427	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:123260427C>A	ENST00000264501.4	+	72	12589	c.12216C>A	c.(12214-12216)tcC>tcA	p.S4072S	KIAA1109_ENST00000388738.3_Silent_p.S4072S			Q2LD37	K1109_HUMAN	KIAA1109	4072					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4072S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTGCCATCCCTGGATTTGG	0.423																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12214-12216)TCC>TCA		fragile site-associated protein							141.0	128.0	132.0					4																	123260427		1857	4093	5950	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123260427C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12216C>A	4.37:g.123260427C>A						KIAA1109_uc003iem.2_Silent_p.S428S|KIAA1109_uc003ien.2_Silent_p.S6S	p.S4072S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			70	12261	+			4072					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12216C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.243|9.243	1.038840|1.038840	0.19669|0.19669	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000442707	.|.	.|.	.|.	5.81|5.81	2.13|2.13	0.27403|0.27403	.|.	.|.	.|.	.|.	.|.	T|T	0.57814|0.57814	0.2079|0.2079	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48969|0.48969	-0.8987|-0.8987	4|4	.|.	.|.	.|.	.|.	9.194|9.194	0.37217|0.37217	0.0:0.6523:0.0:0.3477|0.0:0.6523:0.0:0.3477	.|.	.|.	.|.	.|.	H|T	448|18	.|.	.|.	P|P	+|+	2|1	0|0	KIAA1109|KIAA1109	123479877|123479877	0.007000|0.007000	0.16637|0.16637	0.988000|0.988000	0.46212|0.46212	0.993000|0.993000	0.82548|0.82548	-0.600000|-0.600000	0.05693|0.05693	0.077000|0.077000	0.16863|0.16863	-0.140000|-0.140000	0.14226|0.14226	CCC|CCT		PASS	0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	50	5	50	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151749635	151749635	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:151749635G>T	ENST00000357115.3	-	30	5111	c.4868C>A	c.(4867-4869)cCt>cAt	p.P1623H	LRBA_ENST00000507224.1_Missense_Mutation_p.P1623H|LRBA_ENST00000535741.1_Missense_Mutation_p.P1623H|LRBA_ENST00000510413.1_Missense_Mutation_p.P1623H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1623						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P1623H(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTGTGTGAGGAGTTACTTC	0.483																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4867-4869)CCT>CAT		LPS-responsive vesicle trafficking, beach and							279.0	264.0	269.0					4																	151749635		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749635G>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4868C>A	4.37:g.151749635G>T	ENSP00000349629:p.Pro1623His					LRBA_uc003ilt.3_Missense_Mutation_p.P282H|LRBA_uc003ilu.3_Missense_Mutation_p.P1623H	p.P1623H	NM_006726	NP_006717	P50851	LRBA_HUMAN			30	5342	-	all_hematologic(180;0.151)		1623					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4868C>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.02|14.02	2.411674|2.411674	0.42817|0.42817	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.54479	.|0.99;1.14;0.99;0.57	5.4|5.4	4.37|4.37	0.52481|0.52481	.|.	.|0.389603	.|0.23481	.|N	.|0.047714	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;P	.|0.36315	.|0.412;0.547	.|B;B	.|0.37346	.|0.125;0.247	T|T	0.18461|0.18461	-1.0336|-1.0336	5|10	.|0.15499	.|T	.|0.54	.|.	12.8299|12.8299	0.57740|0.57740	0.137:0.0:0.863:0.0|0.137:0.0:0.863:0.0	.|.	.|1623;1623	.|P50851;P50851-2	.|LRBA_HUMAN;.	I|H	276|1623	.|ENSP00000446299:P1623H;ENSP00000421552:P1623H;ENSP00000349629:P1623H;ENSP00000422180:P1623H	.|ENSP00000349629:P1623H	L|P	-|-	1|2	0|0	LRBA|LRBA	151969085|151969085	0.995000|0.995000	0.38212|0.38212	0.018000|0.018000	0.16275|0.16275	0.600000|0.600000	0.36913|0.36913	2.673000|2.673000	0.46858|0.46858	2.524000|2.524000	0.85096|0.85096	0.555000|0.555000	0.69702|0.69702	CTC|CCT		PASS	0.483	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			6	142	6	142	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247530	164247530	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:164247530C>A	ENST00000296533.2	-	2	708	c.177G>T	c.(175-177)ctG>ctT	p.L59L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.L59L(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGATCAAGGCCAGGTTTCCAG	0.408																																						uc003iqm.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|pancreas(1)	2						c.(175-177)CTG>CTT		neuropeptide Y receptor Y1							126.0	113.0	118.0					4																	164247530		2203	4300	6503	SO:0001819	synonymous_variant	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247530C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.177G>T	4.37:g.164247530C>A						NPY1R_uc011cjj.1_Intron	p.L59L	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	443	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	59			Helical; Name=1; (Potential).		B2R6H5	Silent	SNP	ENST00000296533.2	37	c.177G>T	CCDS34089.1																																																																																				PASS	0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			45	34	45	34	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897894	175897894	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:175897894A>T	ENST00000359240.3	+	5	1888	c.1218A>T	c.(1216-1218)gaA>gaT	p.E406D	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.E406D|ADAM29_ENST00000514159.1_Missense_Mutation_p.E406D|ADAM29_ENST00000445694.1_Missense_Mutation_p.E406D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	406	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E406D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGTTGTTGAAGAAGGAGAAG	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1216-1218)GAA>GAT		ADAM metallopeptidase domain 29 preproprotein							241.0	232.0	235.0					4																	175897894		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897894A>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1218A>T	4.37:g.175897894A>T	ENSP00000352177:p.Glu406Asp					ADAM29_uc003iud.2_Missense_Mutation_p.E406D|ADAM29_uc010irr.2_Missense_Mutation_p.E406D|ADAM29_uc011cki.1_Missense_Mutation_p.E406D	p.E406D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1888	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	406			Disintegrin.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1218A>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077304	0.36662	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	3.6	3.6	0.41247	Blood coagulation inhibitor, Disintegrin (4);	0.000000	0.35615	U	0.003092	T	0.29914	0.0748	M	0.81682	2.555	0.24357	N	0.994892	P	0.44521	0.837	P	0.46940	0.532	T	0.19549	-1.0302	9	.	.	.	.	6.3667	0.21459	0.7804:0.0:0.0:0.2196	.	406	Q9UKF5	ADA29_HUMAN	D	406	ENSP00000352177:E406D;ENSP00000414544:E406D;ENSP00000384229:E406D;ENSP00000423517:E406D	.	E	+	3	2	ADAM29	176134469	0.021000	0.18746	0.770000	0.31555	0.023000	0.10783	0.157000	0.16402	1.866000	0.54105	0.472000	0.43445	GAA		PASS	0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				10	75	10	75	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177608422	177608422	+	Missense_Mutation	SNP	G	G	T	rs186096619		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:177608422G>T	ENST00000280193.2	-	6	1479	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTTTCCAGGATTTAGGGG	0.438																																						uc003ius.1																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(1063-1065)CCT>CAT		vascular endothelial growth factor C							256.0	229.0	237.0					4																	177608422		1843	4093	5936	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608422G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1064C>A	4.37:g.177608422G>T	ENSP00000280193:p.Pro355His						p.P355H	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1494	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	355			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|4.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1064C>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680713	0.68042	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	5.62	0.85841	.	0.205066	0.44688	D	0.000427	T	0.61578	0.2358	L	0.50333	1.59	0.38716	D	0.953332	D	0.62365	0.991	P	0.49999	0.628	T	0.67956	-0.5536	9	0.72032	D	0.01	-9.8581	15.1762	0.72913	0.0:0.1404:0.8596:0.0	.	355	P49767	VEGFC_HUMAN	H	355	.	ENSP00000280193:P355H	P	-	2	0	VEGFC	177845416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.102000	0.50291	2.633000	0.89246	0.655000	0.94253	CCT		PASS	0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		5	106	5	106	---	---	---	---
TRAPPC11	60684	broad.mit.edu	37	4	184585192	184585192	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr4:184585192G>T	ENST00000334690.6	+	2	374	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.G58C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	58					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.G58C(1)									GGTGCTCCCAGGTGACCATGA	0.463																																						uc003ivx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GGT>TGT		hypothetical protein LOC60684 isoform a							146.0	140.0	142.0					4																	184585192		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184585192G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.172G>T	4.37:g.184585192G>T	ENSP00000335371:p.Gly58Cys					C4orf41_uc003ivw.2_Missense_Mutation_p.G58C|C4orf41_uc010isc.2_Intron	p.G58C	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	2	348	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	58					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.172G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169033	0.94768	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.75880	-0.3161	9	0.48119	T	0.1	.	20.1617	0.98138	0.0:0.0:1.0:0.0	.	58;58	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	C	58	.	ENSP00000335371:G58C	G	+	1	0	C4orf41	184822186	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.472000	0.97709	2.854000	0.98071	0.655000	0.94253	GGT		PASS	0.463	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		5	41	5	41	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13721111	13721111	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:13721111T>C	ENST00000265104.4	-	71	12381	c.12277A>G	c.(12277-12279)Aac>Gac	p.N4093D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4093	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N4093D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCCTTACGTTCGCCATGGTC	0.418									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12277-12279)AAC>GAC		dynein, axonemal, heavy chain 5							67.0	70.0	69.0					5																	13721111		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721111T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12277A>G	5.37:g.13721111T>C	ENSP00000265104:p.Asn4093Asp					DNAH5_uc003jfc.2_Missense_Mutation_p.N261D	p.N4093D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			71	12319	-	Lung NSC(4;0.00476)		4093			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12277A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	2.164	-0.391582	0.04932	.	.	ENSG00000039139	ENST00000265104	T	0.08370	3.1	4.53	3.37	0.38596	Dynein heavy chain (1);	0.263416	0.41294	D	0.000901	T	0.05456	0.0144	N	0.16708	0.43	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.38286	-0.9668	10	0.21540	T	0.41	.	11.3681	0.49684	0.0:0.0:0.3354:0.6646	.	4093	Q8TE73	DYH5_HUMAN	D	4093	ENSP00000265104:N4093D	ENSP00000265104:N4093D	N	-	1	0	DNAH5	13774111	1.000000	0.71417	0.095000	0.20976	0.083000	0.17756	3.449000	0.52950	0.866000	0.35629	0.455000	0.32223	AAC		PASS	0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	53	8	53	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13913947	13913947	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:13913947C>T	ENST00000265104.4	-	11	1545	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	481	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A481T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTATCTTGGCAAGGCGTCGG	0.368									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1441-1443)GCC>ACC		dynein, axonemal, heavy chain 5							129.0	133.0	132.0					5																	13913947		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13913947C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1441G>A	5.37:g.13913947C>T	ENSP00000265104:p.Ala481Thr					DNAH5_uc003jfe.1_RNA	p.A481T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			11	1483	-	Lung NSC(4;0.00476)		481			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1441G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876925	0.17395	.	.	ENSG00000039139	ENST00000265104	T	0.54279	0.58	5.67	2.84	0.33178	Dynein heavy chain, domain-1 (1);	0.554792	0.20610	N	0.088988	T	0.33585	0.0868	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.09662	-1.0664	10	0.20519	T	0.43	.	5.3621	0.16093	0.1238:0.6422:0.1206:0.1134	.	481	Q8TE73	DYH5_HUMAN	T	481	ENSP00000265104:A481T	ENSP00000265104:A481T	A	-	1	0	DNAH5	13966947	0.320000	0.24616	0.997000	0.53966	0.204000	0.24138	0.774000	0.26675	1.363000	0.46019	0.557000	0.71058	GCC		PASS	0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	56	8	56	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747097	19747097	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:19747097G>C	ENST00000507958.1	-	6	1467	c.477C>G	c.(475-477)ttC>ttG	p.F159L	CDH18_ENST00000274170.4_Missense_Mutation_p.F159L|CDH18_ENST00000506372.1_Missense_Mutation_p.F159L|CDH18_ENST00000502796.1_Missense_Mutation_p.F159L|CDH18_ENST00000382275.1_Missense_Mutation_p.F159L|CDH18_ENST00000511273.1_Missense_Mutation_p.F159L			Q13634	CAD18_HUMAN	cadherin 18, type 2	159	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F159L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCCATCTGTGAATTTTGGAG	0.348																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(475-477)TTC>TTG		cadherin 18, type 2 preproprotein							149.0	144.0	146.0					5																	19747097		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747097G>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.477C>G	5.37:g.19747097G>C	ENSP00000425093:p.Phe159Leu					CDH18_uc003jgd.2_Missense_Mutation_p.F159L|CDH18_uc011cnm.1_Missense_Mutation_p.F159L	p.F159L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	854	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		159			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.477C>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192642	0.78902	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.88	2.79	0.32731	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	H	0.96489	3.83	0.45161	D	0.998171	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80365	-0.1413	9	.	.	.	.	4.3367	0.11090	0.4665:0.0:0.5335:0.0	.	159;159	B4DHG6;Q13634	.;CAD18_HUMAN	L	159;159;159;159;159;159;105;159	ENSP00000371710:F159L;ENSP00000425093:F159L;ENSP00000274170:F159L;ENSP00000424931:F159L;ENSP00000422138:F159L;ENSP00000427383:F105L;ENSP00000425854:F159L	.	F	-	3	2	CDH18	19782854	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.815000	0.48018	1.056000	0.40484	0.591000	0.81541	TTC		PASS	0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		9	84	9	84	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488018	24488018	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:24488018G>T	ENST00000264463.4	-	12	2628	c.2121C>A	c.(2119-2121)aaC>aaA	p.N707K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	707					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N707K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGACGTCCGTGTTATCTGGAG	0.483										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2119-2121)AAC>AAA		cadherin 10, type 2 preproprotein							79.0	85.0	83.0					5																	24488018		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488018G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2121C>A	5.37:g.24488018G>T	ENSP00000264463:p.Asn707Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.N707K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2453	-			707			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2121C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769747	0.69992	.	.	ENSG00000040731	ENST00000264463	T	0.75821	-0.97	5.41	4.55	0.56014	Cadherin, cytoplasmic domain (1);	0.176294	0.64402	D	0.000011	T	0.80854	0.4703	M	0.79123	2.44	0.45515	D	0.998474	D	0.54964	0.969	P	0.55749	0.783	T	0.80478	-0.1365	10	0.42905	T	0.14	.	9.5885	0.39532	0.1582:0.0:0.8418:0.0	.	707	Q9Y6N8	CAD10_HUMAN	K	707	ENSP00000264463:N707K	ENSP00000264463:N707K	N	-	3	2	CDH10	24523775	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.308000	0.43690	1.298000	0.44778	0.655000	0.94253	AAC		PASS	0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		11	49	11	49	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488077	24488077	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:24488077G>T	ENST00000264463.4	-	12	2569	c.2062C>A	c.(2062-2064)Cga>Aga	p.R688R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R688R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATAATATCTCGCCGGAGCTTT	0.483										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2062-2064)CGA>AGA		cadherin 10, type 2 preproprotein							60.0	65.0	63.0					5																	24488077		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488077G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2062C>A	5.37:g.24488077G>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R688R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2394	-			688			Cytoplasmic (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2062C>A	CCDS3892.1																																																																																				PASS	0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		25	17	25	17	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24509858	24509858	+	Missense_Mutation	SNP	C	C	T	rs375716455		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:24509858C>T	ENST00000264463.4	-	7	1580	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	358	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R358H(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTAATAAAAACGGGGATCTAC	0.363										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1072-1074)CGT>CAT		cadherin 10, type 2 preproprotein		C	HIS/ARG	0,4406		0,0,2203	72.0	75.0	74.0		1073	4.3	1.0	5		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH10	NM_006727.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	358/789	24509858	1,13005	2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509858C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1073G>A	5.37:g.24509858C>T	ENSP00000264463:p.Arg358His	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R358H	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1405	-			358			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1073G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389853	0.61956	0.0	1.16E-4	ENSG00000040731	ENST00000264463	T	0.55052	0.54	5.16	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.164072	0.52532	D	0.000066	T	0.54791	0.1880	M	0.80616	2.505	0.09310	N	1	P	0.48016	0.904	B	0.42827	0.399	T	0.56306	-0.8001	10	0.54805	T	0.06	.	9.5402	0.39246	0.0:0.8383:0.0:0.1617	.	358	Q9Y6N8	CAD10_HUMAN	H	358	ENSP00000264463:R358H	ENSP00000264463:R358H	R	-	2	0	CDH10	24545615	0.990000	0.36364	0.998000	0.56505	0.980000	0.70556	2.831000	0.48144	1.310000	0.45006	0.650000	0.86243	CGT		PASS	0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		25	24	25	24	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32074686	32074686	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:32074686A>C	ENST00000438447.1	+	18	3862	c.3474A>C	c.(3472-3474)agA>agC	p.R1158S	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1158S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1158					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R1158S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGACTCGAGAGTCCAGGCCA	0.547																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(3472-3474)AGA>AGC		PDZ domain containing 2							29.0	29.0	29.0					5																	32074686		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074686A>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3474A>C	5.37:g.32074686A>C	ENSP00000402033:p.Arg1158Ser					PDZD2_uc003jhm.2_Missense_Mutation_p.R1158S|PDZD2_uc011cnx.1_Missense_Mutation_p.R984S	p.R1158S	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3862	+			1158					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3474A>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.200130	0.38905	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05925	3.37;3.37	5.07	-1.99	0.07457	.	0.933012	0.08950	N	0.870228	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.08055	0.002;0.003	T	0.43327	-0.9398	10	0.36615	T	0.2	.	5.4926	0.16785	0.3238:0.3003:0.3759:0.0	.	984;1158	B4E3P2;O15018	.;PDZD2_HUMAN	S	1158;960;1158	ENSP00000402033:R1158S;ENSP00000282493:R1158S	ENSP00000282493:R1158S	R	+	3	2	PDZD2	32110443	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	-0.032000	0.12266	-0.657000	0.05373	0.533000	0.62120	AGA		PASS	0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			18	10	18	10	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35876119	35876119	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:35876119T>A	ENST00000303115.3	+	8	1040	c.911T>A	c.(910-912)cTg>cAg	p.L304Q	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	304					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.L304Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAAAGTTTCCTGGACTGCCAG	0.408			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(910-912)CTG>CAG		interleukin 7 receptor precursor							86.0	82.0	83.0					5																	35876119		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876119T>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.911T>A	5.37:g.35876119T>A	ENSP00000306157:p.Leu304Gln					IL7R_uc011cop.1_RNA	p.L304Q	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1000	+	all_lung(31;0.00015)		304			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.911T>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715214	0.68844	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.36340	1.8;1.26	6.06	3.57	0.40892	.	0.978820	0.08311	N	0.965355	T	0.47801	0.1465	L	0.56769	1.78	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	T	0.39840	-0.9594	10	0.23891	T	0.37	-1.8767	4.9327	0.13925	0.1617:0.0846:0.0:0.7537	.	304	P16871	IL7RA_HUMAN	Q	304;70	ENSP00000306157:L304Q;ENSP00000420923:L70Q	ENSP00000306157:L304Q	L	+	2	0	IL7R	35911876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.426000	0.34870	1.116000	0.41820	0.533000	0.62120	CTG		PASS	0.408	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			6	60	6	60	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36035961	36035961	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:36035961G>T	ENST00000282507.3	-	7	1512	c.1411C>A	c.(1411-1413)Ctc>Atc	p.L471I	UGT3A2_ENST00000545528.1_Missense_Mutation_p.L169I|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L437I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	471					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.L471I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGGCTTGAGGTGCGTCGCG	0.617																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1411-1413)CTC>ATC		UDP glycosyltransferase 3 family, polypeptide A2							58.0	51.0	53.0					5																	36035961		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035961G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1411C>A	5.37:g.36035961G>T	ENSP00000282507:p.Leu471Ile					UGT3A2_uc011cos.1_Missense_Mutation_p.L437I|UGT3A2_uc011cot.1_Missense_Mutation_p.L169I	p.L471I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1504	-	all_lung(31;0.000179)		471			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1411C>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461451	0.43736	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.70282	-0.47;-0.47;2.29	2.74	2.74	0.32292	.	0.000000	0.51477	U	0.000100	D	0.86703	0.5996	M	0.93197	3.39	0.40030	D	0.975523	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.969	D	0.90560	0.4515	10	0.87932	D	0	.	13.2976	0.60307	0.0:0.0:1.0:0.0	.	437;471	E9PFK7;Q3SY77	.;UD3A2_HUMAN	I	471;437;169	ENSP00000282507:L471I;ENSP00000427404:L437I;ENSP00000445367:L169I	ENSP00000282507:L471I	L	-	1	0	UGT3A2	36071718	1.000000	0.71417	0.985000	0.45067	0.059000	0.15707	2.528000	0.45624	1.830000	0.53286	0.563000	0.77884	CTC		PASS	0.617	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		4	21	4	21	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36122985	36122985	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:36122985G>T	ENST00000296603.4	-	8	1363	c.901C>A	c.(901-903)Cca>Aca	p.P301T		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	301						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P301T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCACTTGGATAGATACTA	0.284																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CCA>ACA		LMBR1 domain containing 2							69.0	73.0	72.0					5																	36122985		2201	4287	6488	SO:0001583	missense	92255					integral to membrane		g.chr5:36122985G>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.901C>A	5.37:g.36122985G>T	ENSP00000296603:p.Pro301Thr						p.P301T	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1316	-	all_lung(31;0.000146)		301			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.901C>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418646	0.83559	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.29397	1.57	5.18	5.18	0.71444	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51608	-0.8684	10	0.13470	T	0.59	-10.7304	19.0683	0.93122	0.0:0.0:1.0:0.0	.	301	Q68DH5	LMBD2_HUMAN	T	301;195	ENSP00000296603:P301T	ENSP00000296603:P301T	P	-	1	0	LMBRD2	36158742	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.135000	0.94478	2.558000	0.86282	0.650000	0.86243	CCA		PASS	0.284	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		4	23	4	23	---	---	---	---
NADK2	133686	broad.mit.edu	37	5	36226629	36226629	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:36226629T>A	ENST00000381937.4	-	3	425	c.426A>T	c.(424-426)agA>agT	p.R142S	NADK2_ENST00000514504.1_Missense_Mutation_p.R142S|NADK2_ENST00000397338.1_5'UTR|NADK2_ENST00000282512.3_5'UTR|NADK2_ENST00000506945.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	142					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.R142S(1)									CATCATATTCTCTCCTCTTTA	0.348																																						uc003jkf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)AGA>AGT		hypothetical protein LOC133686 isoform 1							160.0	148.0	152.0					5																	36226629		1889	4114	6003	SO:0001583	missense	133686						NAD+ kinase activity	g.chr5:36226629T>A	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.426A>T	5.37:g.36226629T>A	ENSP00000371362:p.Arg142Ser					C5orf33_uc010iux.2_5'Flank|C5orf33_uc003jkg.3_5'UTR|C5orf33_uc011cov.1_5'UTR	p.R142S	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	426	-	all_lung(31;5.63e-05)		142					B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	c.426A>T	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397648	0.42512	.	.	ENSG00000152620	ENST00000381937;ENST00000514504	T;T	0.40756	1.02;1.02	5.96	3.48	0.39840	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	.	.	.	.	T	0.23171	0.0560	N	0.11201	0.11	0.44477	D	0.997419	B	0.28820	0.224	B	0.31946	0.138	T	0.04440	-1.0951	9	0.16896	T	0.51	.	10.245	0.43334	0.0:0.1413:0.0:0.8587	.	142	Q4G0N4	NAKD1_HUMAN	S	142	ENSP00000371362:R142S;ENSP00000421029:R142S	ENSP00000371362:R142S	R	-	3	2	NADKD1	36262386	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.887000	0.28254	1.023000	0.39654	0.533000	0.62120	AGA		PASS	0.348	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		61	44	61	44	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37000926	37000926	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:37000926G>A	ENST00000282516.8	+	13	4009	c.3510G>A	c.(3508-3510)agG>agA	p.R1170R	NIPBL_ENST00000448238.2_Silent_p.R1170R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1170					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.R1170R(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAGTTGCTAGGAAAATGAAGA	0.294																																						uc003jkl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(3508-3510)AGG>AGA		delangin isoform A							59.0	60.0	59.0					5																	37000926		2202	4295	6497	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000926G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3510G>A	5.37:g.37000926G>A						NIPBL_uc003jkk.3_Silent_p.R1170R	p.R1170R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		13	4009	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1170					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.3510G>A	CCDS3920.1																																																																																				PASS	0.294	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		34	22	34	22	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202039	39202039	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:39202039G>A	ENST00000351578.6	-	2	1214	c.1024C>T	c.(1024-1026)Ccg>Tcg	p.P342S	FYB_ENST00000540520.1_Missense_Mutation_p.P352S|FYB_ENST00000515010.1_Missense_Mutation_p.P342S|FYB_ENST00000512982.1_Missense_Mutation_p.P342S|FYB_ENST00000505428.1_Missense_Mutation_p.P342S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P342S(3)|p.P352S(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTGTTTCGGGGTGGCTGAA	0.532																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1024-1026)CCG>TCG		FYN binding protein (FYB-120/130) isoform 2							140.0	142.0	142.0					5																	39202039		1928	4121	6049	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202039G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1024C>T	5.37:g.39202039G>A	ENSP00000316460:p.Pro342Ser					FYB_uc003jlt.2_Missense_Mutation_p.P342S|FYB_uc003jlu.2_Missense_Mutation_p.P342S|FYB_uc011cpl.1_Missense_Mutation_p.P352S	p.P342S	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1091	-	all_lung(31;0.000343)		342					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1024C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972967	0.53614	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.55413	0.54;0.54;0.52;0.52;0.54	5.93	5.93	0.95920	.	0.178499	0.49305	D	0.000155	T	0.74839	0.3769	M	0.73598	2.24	0.53005	D	0.999967	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.927	T	0.75164	-0.3414	10	0.66056	D	0.02	-12.6532	20.3539	0.98825	0.0:0.0:1.0:0.0	.	352;342	B4DLN2;O15117	.;FYB_HUMAN	S	342;342;342;342;352;342	ENSP00000316460:P342S;ENSP00000426346:P342S;ENSP00000425845:P342S;ENSP00000427114:P342S;ENSP00000442840:P352S	ENSP00000316460:P342S	P	-	1	0	FYB	39237796	1.000000	0.71417	0.272000	0.24630	0.118000	0.20060	6.778000	0.75043	2.826000	0.97356	0.655000	0.94253	CCG		PASS	0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		7	73	7	73	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257447	63257447	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:63257447T>A	ENST00000323865.3	-	1	333	c.100A>T	c.(100-102)Agc>Tgc	p.S34C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	34					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S34C(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACTTGGTAGCTGACGGTCACG	0.617																																						uc011cqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(100-102)AGC>TGC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						107.0	102.0	104.0					5																	63257447		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257447T>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.100A>T	5.37:g.63257447T>A	ENSP00000316244:p.Ser34Cys						p.S34C	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	100	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	34			Extracellular (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.100A>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	T	6.959	0.546904	0.13312	.	.	ENSG00000178394	ENST00000323865;ENST00000506598	T;T	0.50813	1.15;0.73	3.98	1.55	0.23275	.	0.335214	0.33457	U	0.004896	T	0.27967	0.0689	N	0.24115	0.695	0.41967	D	0.990732	B	0.16166	0.016	B	0.10450	0.005	T	0.05500	-1.0881	10	0.37606	T	0.19	.	5.7556	0.18170	0.0:0.3186:0.0:0.6814	.	34	P08908	5HT1A_HUMAN	C	34	ENSP00000316244:S34C;ENSP00000423433:S34C	ENSP00000316244:S34C	S	-	1	0	HTR1A	63293203	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.898000	0.28404	0.589000	0.29677	-0.411000	0.06167	AGC		PASS	0.617	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		10	29	10	29	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70805959	70805959	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:70805959G>A	ENST00000358731.4	+	17	3303	c.3040G>A	c.(3040-3042)Gca>Aca	p.A1014T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1014	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A1014T(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATTTGAACGCAACTGGAAG	0.428																																						uc003kbp.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)	2						c.(3040-3042)GCA>ACA		transcription factor-like nuclear regulator							75.0	76.0	76.0					5																	70805959		1846	4086	5932	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805959G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3040G>A	5.37:g.70805959G>A	ENSP00000351575:p.Ala1014Thr					BDP1_uc003kbn.1_Missense_Mutation_p.A1014T|BDP1_uc003kbo.2_Missense_Mutation_p.A1014T	p.A1014T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3303	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1014			4.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3040G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762488	0.31228	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19669	2.13	3.48	1.29	0.21616	.	1.180230	0.06697	N	0.770669	T	0.05868	0.0153	N	0.02539	-0.55	0.80722	D	1	P;P;B	0.36660	0.564;0.564;0.057	B;B;B	0.23852	0.049;0.049;0.013	T	0.32693	-0.9897	10	0.15066	T	0.55	.	3.8687	0.09027	0.1438:0.0:0.6328:0.2234	.	1014;1014;1014	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	1014;594	ENSP00000351575:A1014T	ENSP00000351575:A1014T	A	+	1	0	BDP1	70841715	0.000000	0.05858	0.829000	0.32907	0.168000	0.22595	0.077000	0.14738	0.307000	0.22880	0.305000	0.20034	GCA		PASS	0.428	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		14	72	14	72	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:88119587G>C	ENST00000437473.2	-	2	436	c.19C>G	c.(19-21)Cag>Gag	p.Q7E	MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7E|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7E|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7E|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7E|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7E|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7E|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7E|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7E|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7E	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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 differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)																												uc003kjj.2																			3	Substitution - Missense(3)		lung(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(19-21)CAG>GAG		myocyte enhancer factor 2C isoform 1							304.0	304.0	304.0					5																	88119587		1825	4071	5896	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88119587G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.19C>G	5.37:g.88119587G>C	ENSP00000396219:p.Gln7Glu	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjk.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjm.2_Missense_Mutation_p.Q7E|MEF2C_uc003kjl.2_Missense_Mutation_p.Q7E	p.Q7E	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	2	692	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	7			Lys-rich (basic).|MADS-box.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.19C>G	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966901	0.74131	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.12	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	T	0.80618	0.4657	N	0.05177	-0.1	0.80722	D	1	B;D;P;D	0.76494	0.007;0.999;0.909;0.999	B;D;P;D	0.79784	0.019;0.993;0.871;0.993	D	0.85975	0.1479	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	E	7	ENSP00000340874:Q7E;ENSP00000389610:Q7E;ENSP00000421925:Q7E;ENSP00000426665:Q7E;ENSP00000396219:Q7E;ENSP00000422390:Q7E;ENSP00000425636:Q7E;ENSP00000423597:Q7E;ENSP00000424606:Q7E;ENSP00000441153:Q7E;ENSP00000423826:Q7E;ENSP00000423656:Q7E;ENSP00000424331:Q7E;ENSP00000427163:Q7E;ENSP00000426442:Q7E;ENSP00000427286:Q7E;ENSP00000426465:Q7E;ENSP00000427309:Q7E	ENSP00000340874:Q7E	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG		PASS	0.343	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		105	44	105	44	---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153409093	153409093	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:153409093C>A	ENST00000351797.4	-	5	527	c.451G>T	c.(451-453)Gca>Tca	p.A151S	FAM114A2_ENST00000520313.1_Missense_Mutation_p.A81S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.A151S|FAM114A2_ENST00000522858.1_Missense_Mutation_p.A151S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	151							purine nucleotide binding (GO:0017076)	p.A151S(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ACACCAAATGCCCCAGCCACT	0.448																																						uc003lvb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GCA>TCA		hypothetical protein LOC10827							108.0	97.0	100.0					5																	153409093		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153409093C>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.451G>T	5.37:g.153409093C>A	ENSP00000341597:p.Ala151Ser					FAM114A2_uc003lvc.2_Missense_Mutation_p.A151S|FAM114A2_uc003lvd.2_Missense_Mutation_p.A151S|FAM114A2_uc003lve.2_5'UTR|FAM114A2_uc011dda.1_Missense_Mutation_p.A81S	p.A151S	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			5	1039	-			151					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.451G>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	5.278	0.236616	0.10023	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000520313;ENST00000522395;ENST00000523705	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.63	2.8	0.32819	.	0.185703	0.46442	D	0.000297	T	0.39911	0.1096	L	0.35288	1.05	0.41080	D	0.98551	D;P	0.54601	0.967;0.933	P;P	0.57679	0.825;0.741	T	0.21655	-1.0239	10	0.07644	T	0.81	-3.2045	10.1455	0.42760	0.0881:0.5419:0.37:0.0	.	81;151	E7ESJ7;Q9NRY5	.;F1142_HUMAN	S	151;151;151;151;81;151;151	ENSP00000341597:A151S;ENSP00000430489:A151S;ENSP00000430384:A151S;ENSP00000429088:A81S;ENSP00000430186:A151S;ENSP00000428827:A151S	ENSP00000341597:A151S	A	-	1	0	FAM114A2	153389286	0.916000	0.31088	0.007000	0.13788	0.071000	0.16799	1.610000	0.36869	0.746000	0.32786	-0.802000	0.03209	GCA		PASS	0.448	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		8	10	8	10	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160097667	160097667	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:160097667G>T	ENST00000327245.5	-	7	1324	c.478C>A	c.(478-480)Cag>Aag	p.Q160K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	160					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q160K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATAGGTCTGCTCTTTTCTT	0.458																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(478-480)CAG>AAG		ATPase, class V, type 10B							108.0	110.0	109.0					5																	160097667		2023	4187	6210	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160097667G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.478C>A	5.37:g.160097667G>T	ENSP00000313600:p.Gln160Lys					ATP10B_uc003lyp.2_Missense_Mutation_p.Q160K|ATP10B_uc011deg.1_Missense_Mutation_p.Q204K|ATP10B_uc003lyo.2_Missense_Mutation_p.Q132K	p.Q160K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1325	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	160			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.478C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.213153	0.00289	.	.	ENSG00000118322	ENST00000327245	D	0.87729	-2.29	5.13	2.11	0.27256	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.490824	0.19392	N	0.115394	T	0.69151	0.3079	N	0.02751	-0.505	0.09310	N	1	B;B;B;B	0.14012	0.009;0.0;0.007;0.009	B;B;B;B	0.13407	0.007;0.003;0.002;0.009	T	0.53099	-0.8486	9	.	.	.	.	13.0905	0.59164	0.0:0.0:0.4533:0.5467	.	204;160;132;160	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	K	160	ENSP00000313600:Q160K	.	Q	-	1	0	ATP10B	160030245	0.933000	0.31639	0.559000	0.28332	0.064000	0.16182	2.278000	0.43426	0.643000	0.30638	-0.291000	0.09656	CAG		PASS	0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		24	18	24	18	---	---	---	---
HIST1H3I	8354	broad.mit.edu	37	6	27840015	27840015	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:27840015G>A	ENST00000328488.2	-	1	84	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	27					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R27C(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCTCTTGCGAGCCGCCTTG	0.667																																						uc003njy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)CGC>TGC		histone cluster 1, H3i							24.0	28.0	27.0					6																	27840015		2199	4298	6497	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27840015G>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.79C>T	6.37:g.27840015G>A	ENSP00000329554:p.Arg27Cys						p.R27C	NM_003533	NP_003524	P68431	H31_HUMAN			1	85	-			27					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.79C>T	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799221	0.31869	.	.	ENSG00000182572	ENST00000328488	T	0.46063	0.88	4.12	4.12	0.48240	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.47407	D	0.99941	.	.	.	.	.	.	T	0.36335	-0.9752	6	0.54805	T	0.06	.	11.7978	0.52110	0.0:0.0:0.8242:0.1758	.	.	.	.	C	27	ENSP00000329554:R27C	ENSP00000329554:R27C	R	-	1	0	HIST1H3I	27947994	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.312000	0.78968	2.580000	0.87095	0.650000	0.86243	CGC		PASS	0.667	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		4	13	4	13	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327630	28327630	+	Silent	SNP	G	G	T	rs537641620	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:28327630G>T	ENST00000377255.3	+	3	564	c.267G>T	c.(265-267)ctG>ctT	p.L89L	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Silent_p.L89L	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L89L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGGAGCTGCTGGTGCTGGAGC	0.652																																						uc003nle.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(265-267)CTG>CTT		zinc finger with KRAB and SCAN domains 3							31.0	35.0	34.0					6																	28327630		2201	4292	6493	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327630G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.267G>T	6.37:g.28327630G>T						ZKSCAN3_uc010jrc.2_Silent_p.L89L|ZKSCAN3_uc003nlf.3_Intron	p.L89L	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	483	+			89			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.267G>T	CCDS4650.1																																																																																				PASS	0.652	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		5	22	5	22	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33255475	33255475	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:33255475C>T	ENST00000374617.4	-	7	1000	c.644G>A	c.(643-645)cGc>cAc	p.R215H	WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	215							poly(A) RNA binding (GO:0044822)	p.R215H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						ATGACCTCGGCGCCCTCCAAA	0.602																																						uc003ods.2																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)CGC>CAC		WD repeat domain 46 isoform 1							59.0	56.0	57.0					6																	33255475		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33255475C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.644G>A	6.37:g.33255475C>T	ENSP00000363746:p.Arg215His					WDR46_uc011dra.1_Missense_Mutation_p.R161H|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	p.R215H	NM_005452	NP_005443	O15213	WDR46_HUMAN			7	688	-			215			WD 1.		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.644G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358055	0.41801	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.26067	4.99;1.76	4.56	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.286399	0.37437	N	0.002097	T	0.09818	0.0241	L	0.50919	1.6	0.39442	D	0.967269	B;B	0.25521	0.128;0.051	B;B	0.15484	0.01;0.013	T	0.04811	-1.0925	10	0.49607	T	0.09	-4.4743	7.01	0.24857	0.0:0.799:0.0:0.201	.	161;215	B4DP15;O15213	.;WDR46_HUMAN	H	215;142	ENSP00000363746:R215H;ENSP00000405568:R142H	ENSP00000363746:R215H	R	-	2	0	WDR46	33363453	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	1.242000	0.32755	1.141000	0.42275	0.549000	0.68633	CGC		PASS	0.602	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		10	9	10	9	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33262480	33262480	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:33262480G>A	ENST00000497454.1	-	11	1833	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.S364S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	446	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S446S(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACTCATCCTTGGAGGCTGCAT	0.582																																						uc003odv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1336-1338)TCC>TCT		ral guanine nucleotide dissociation							82.0	76.0	78.0					6																	33262480		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33262480G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1338C>T	6.37:g.33262480G>A						RGL2_uc003odu.2_Silent_p.S6S|RGL2_uc010jur.2_Silent_p.S6S|RGL2_uc003odw.2_Silent_p.S364S|RGL2_uc011drb.1_Silent_p.S364S	p.S446S	NM_004761	NP_004752	O15211	RGL2_HUMAN			11	1471	-			446			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.1338C>T	CCDS4774.1																																																																																				PASS	0.582	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			5	12	5	12	---	---	---	---
TAF11	6882	broad.mit.edu	37	6	34850791	34850791	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:34850791C>T	ENST00000361288.4	-	2	369	c.238G>A	c.(238-240)Gca>Aca	p.A80T	UHRF1BP1_ENST00000452449.2_3'UTR|TAF11_ENST00000420584.2_Missense_Mutation_p.A80T	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	80					gene expression (GO:0010467)|positive regulation by host of viral transcription (GO:0043923)|regulation of transcription, DNA-templated (GO:0006355)|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)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)	p.A80T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						TTTTTGGCTGCAGGATTAAGT	0.348																																						uc003ojw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GCA>ACA		TBP-associated factor 11							136.0	133.0	134.0					6																	34850791		2203	4300	6503	SO:0001583	missense	6882				positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	g.chr6:34850791C>T	X83928	CCDS4797.1, CCDS59014.1	6p21	2008-02-05	2002-08-29	2001-12-07	ENSG00000064995	ENSG00000064995			11544	protein-coding gene	gene with protein product		600772	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD"""	TAF2I		7729427, 8820923	Standard	NM_005643		Approved	TAFII28	uc003ojw.2	Q15544	OTTHUMG00000014556	ENST00000361288.4:c.238G>A	6.37:g.34850791C>T	ENSP00000354633:p.Ala80Thr					UHRF1BP1_uc010jvm.1_RNA|TAF11_uc011dsr.1_Missense_Mutation_p.A80T	p.A80T	NM_005643	NP_005634	Q15544	TAF11_HUMAN			2	323	-			80					B2R8R3|B4DY18|Q9UHS0	Missense_Mutation	SNP	ENST00000361288.4	37	c.238G>A	CCDS4797.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365479	0.82463	.	.	ENSG00000064995	ENST00000361288;ENST00000420584	T;T	0.50001	1.42;0.76	5.52	3.65	0.41850	.	0.326110	0.32473	N	0.006053	T	0.21921	0.0528	L	0.50333	1.59	0.47123	D	0.999327	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.07947	-1.0746	10	0.26408	T	0.33	.	8.8738	0.35332	0.1469:0.7744:0.0:0.0787	.	80;80	B4DY18;Q15544	.;TAF11_HUMAN	T	80	ENSP00000354633:A80T;ENSP00000408121:A80T	ENSP00000354633:A80T	A	-	1	0	TAF11	34958769	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.559000	0.36320	1.471000	0.48121	0.555000	0.69702	GCA		PASS	0.348	TAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040259.1	NM_005643		23	33	23	33	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35089954	35089954	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:35089954G>T	ENST00000512012.1	-	4	674	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	TCP11_ENST00000311875.5_Missense_Mutation_p.P186Q|TCP11_ENST00000244645.3_Missense_Mutation_p.P111Q|TCP11_ENST00000444780.2_Missense_Mutation_p.P181Q|TCP11_ENST00000418521.2_Missense_Mutation_p.P110Q|TCP11_ENST00000412155.2_Missense_Mutation_p.P135Q|TCP11_ENST00000373974.4_Missense_Mutation_p.P140Q|TCP11_ENST00000373979.2_Missense_Mutation_p.P111Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	173					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P111Q(1)|p.P186Q(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATCTCGAACTGGTGCACACAG	0.478																																						uc003okd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(556-558)CCA>CAA		t-complex 11 isoform 1							149.0	134.0	139.0					6																	35089954		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35089954G>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.518C>A	6.37:g.35089954G>T	ENSP00000425995:p.Pro173Gln					TCP11_uc003ojz.1_Missense_Mutation_p.P111Q|TCP11_uc003oka.2_Missense_Mutation_p.P111Q|TCP11_uc003okb.2_Missense_Mutation_p.P110Q|TCP11_uc003okc.2_Missense_Mutation_p.P110Q|TCP11_uc011dsu.1_Missense_Mutation_p.P168Q|TCP11_uc011dsv.1_Missense_Mutation_p.P135Q|TCP11_uc011dsw.1_Missense_Mutation_p.P140Q	p.P186Q	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			5	738	-			173					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.557C>A		.	.	.	.	.	.	.	.	.	.	G	19.90	3.911980	0.72983	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.80616	2.505	0.80722	D	1	P;P;P;D;P;D	0.62365	0.927;0.927;0.927;0.991;0.927;0.979	P;P;P;P;P;P	0.61397	0.819;0.71;0.71;0.888;0.71;0.873	T	0.69394	-0.5157	10	0.87932	D	0	.	16.9911	0.86354	0.0:0.0:1.0:0.0	.	140;135;181;246;173;111	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	Q	111;135;111;135;186;181;140;110;173;32	ENSP00000363091:P111Q;ENSP00000402816:P135Q;ENSP00000244645:P111Q;ENSP00000308708:P186Q;ENSP00000404479:P181Q;ENSP00000363085:P140Q;ENSP00000415320:P110Q;ENSP00000425995:P173Q;ENSP00000421103:P32Q	ENSP00000244645:P111Q	P	-	2	0	TCP11	35197932	1.000000	0.71417	0.748000	0.31131	0.612000	0.37316	9.060000	0.93907	2.409000	0.81822	0.563000	0.77884	CCA		PASS	0.478	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		5	81	5	81	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43471417	43471417	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:43471417C>T	ENST00000372445.5	+	10	928	c.552C>T	c.(550-552)tcC>tcT	p.S184S	TJAP1_ENST00000372452.1_Silent_p.S174S|TJAP1_ENST00000436109.2_Silent_p.S174S|TJAP1_ENST00000259751.1_Silent_p.S174S|TJAP1_ENST00000372449.1_Silent_p.S184S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.S184S|TJAP1_ENST00000372444.2_Silent_p.S174S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	184					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.S174S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCAACAAGTCCCACTTCCGAA	0.562																																						uc003ovd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)TCC>TCT		tight junction associated protein 1 isoform a							85.0	82.0	83.0					6																	43471417		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43471417C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.552C>T	6.37:g.43471417C>T						TJAP1_uc003ovf.2_Silent_p.S174S|TJAP1_uc003ove.2_Silent_p.S174S|TJAP1_uc003ovc.2_Silent_p.S174S|TJAP1_uc010jyp.2_Silent_p.S143S|TJAP1_uc011dvh.1_Silent_p.S174S|TJAP1_uc003ovg.2_Silent_p.S50S|TJAP1_uc011dvi.1_Silent_p.S184S|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Silent_p.S50S	p.S184S	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		10	928	+	all_lung(25;0.00536)		184					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.552C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429528	0.25726	.	.	ENSG00000137221	ENST00000454762	.	.	.	5.65	2.89	0.33648	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-39.5127	6.2021	0.20581	0.0:0.5425:0.2484:0.2091	.	.	.	.	S	132	.	.	P	+	1	0	TJAP1	43579395	0.498000	0.26075	1.000000	0.80357	0.977000	0.68977	-0.261000	0.08694	0.326000	0.23384	0.462000	0.41574	CCA		PASS	0.562	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		11	87	11	87	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47650109	47650109	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:47650109T>A	ENST00000296862.1	+	6	1814	c.1814T>A	c.(1813-1815)cTg>cAg	p.L605Q	GPR111_ENST00000398742.2_Missense_Mutation_p.L537Q|GPR111_ENST00000507065.1_Missense_Mutation_p.L537Q			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	605					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L537Q(1)|p.L605Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAAGCCCTCCTGGCCTTCGTG	0.537																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1813-1815)CTG>CAG		G-protein coupled receptor 111							63.0	63.0	63.0					6																	47650109		2042	4199	6241	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650109T>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1814T>A	6.37:g.47650109T>A	ENSP00000296862:p.Leu605Gln					GPR111_uc010jzk.1_Missense_Mutation_p.L537Q|GPR111_uc003oyy.2_RNA	p.L605Q	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1815	+			605			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1814T>A		.	.	.	.	.	.	.	.	.	.	T	23.0	4.365569	0.82463	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.46063	0.88;0.88;0.88	5.64	5.64	0.86602	GPCR, family 2-like (1);	0.000000	0.49305	D	0.000152	T	0.60117	0.2244	M	0.81614	2.55	0.44366	D	0.997265	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67292	-0.5707	10	0.87932	D	0	.	15.0233	0.71647	0.0:0.0:0.0:1.0	.	537;605	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	Q	537;605;537	ENSP00000422934:L537Q;ENSP00000296862:L605Q;ENSP00000381727:L537Q	ENSP00000296862:L605Q	L	+	2	0	GPR111	47758068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.012000	0.88631	2.142000	0.66516	0.533000	0.62120	CTG		PASS	0.537	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		27	29	27	29	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51640631	51640631	+	Silent	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:51640631T>G	ENST00000371117.3	-	54	8804	c.8529A>C	c.(8527-8529)ggA>ggC	p.G2843G	PKHD1_ENST00000340994.4_Silent_p.G2843G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2843	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G2843G(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAATATGAATTCCATTCATAC	0.343																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8527-8529)GGA>GGC		fibrocystin isoform 1							72.0	72.0	72.0					6																	51640631		2203	4298	6501	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51640631T>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8529A>C	6.37:g.51640631T>G						PKHD1_uc010jzn.1_Silent_p.G826G|PKHD1_uc003pai.2_Silent_p.G2843G	p.G2843G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			54	8805	-	Lung NSC(77;0.0605)		2843			G8 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.8529A>C	CCDS4935.1																																																																																				PASS	0.343	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	46	6	46	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83818789	83818789	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:83818789T>C	ENST00000349129.2	+	5	741	c.481T>C	c.(481-483)Tac>Cac	p.Y161H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y161H|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Y161H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y161H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	161					protein transport (GO:0015031)			p.Y161H(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)		AGGATCAGAGTACTATGAGAG	0.358																																						uc003pjs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(481-483)TAC>CAC		dopey family member 1							112.0	105.0	107.0					6																	83818789		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83818789T>C	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.481T>C	6.37:g.83818789T>C	ENSP00000195654:p.Tyr161His					DOPEY1_uc011dyy.1_Missense_Mutation_p.Y161H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Y161H	p.Y161H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	5	741	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	161					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.481T>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	9.442	1.088331	0.20390	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.21932	1.98;1.98;1.99	5.74	5.74	0.90152	Dopey, N-terminal (1);	0.131674	0.52532	D	0.000061	T	0.08802	0.0218	N	0.00677	-1.265	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.966;0.966	D;P;P	0.91635	0.999;0.817;0.817	T	0.53005	-0.8499	10	0.15066	T	0.55	.	16.389	0.83525	0.0:0.0:0.0:1.0	.	161;161;161	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	161	ENSP00000195654:Y161H;ENSP00000237163:Y161H;ENSP00000358754:Y161H	ENSP00000237163:Y161H	Y	+	1	0	DOPEY1	83875508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.927000	0.70080	2.330000	0.79161	0.477000	0.44152	TAC		PASS	0.358	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	48	9	48	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854625	88854625	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:88854625G>T	ENST00000537554.1	-	2	3931	c.369C>A	c.(367-369)tcC>tcA	p.S123S	CNR1_ENST00000535130.1_Silent_p.S123S|CNR1_ENST00000428600.2_Silent_p.S123S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Silent_p.S123S|CNR1_ENST00000468898.1_Silent_p.S90S|CNR1_ENST00000369501.2_Silent_p.S123S|CNR1_ENST00000549716.1_Silent_p.S62S|CNR1_ENST00000369499.2_Silent_p.S123S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	123					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.S123S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCAGCGTGAGGGACAGGACTG	0.587																																						uc011dzq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(367-369)TCC>TCA		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						59.0	53.0	55.0					6																	88854625		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854625G>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.369C>A	6.37:g.88854625G>T						CNR1_uc010kbz.2_Silent_p.S123S|CNR1_uc011dzr.1_Silent_p.S123S|CNR1_uc011dzs.1_Silent_p.S123S|CNR1_uc003pmq.3_Silent_p.S123S|CNR1_uc011dzt.1_Silent_p.S123S|CNR1_uc010kca.2_Silent_p.S90S	p.S123S	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3932	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	123			Helical; Name=1; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.369C>A	CCDS5015.1																																																																																				PASS	0.587	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			6	13	6	13	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	94120471	94120471	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:94120471C>G	ENST00000369303.4	-	3	764	c.580G>C	c.(580-582)Gct>Cct	p.A194P	EPHA7_ENST00000369297.1_Missense_Mutation_p.A194P	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	194	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.A194P(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GAAACCAAAGCTATGCAAGCC	0.408																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(580-582)GCT>CCT		ephrin receptor EphA7 precursor							84.0	89.0	87.0					6																	94120471		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120471C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.580G>C	6.37:g.94120471C>G	ENSP00000358309:p.Ala194Pro					EPHA7_uc003pof.2_Missense_Mutation_p.A194P|EPHA7_uc011eac.1_Missense_Mutation_p.A194P|EPHA7_uc003pog.3_Missense_Mutation_p.A194P	p.A194P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	821	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	194			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.580G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783774	0.90282	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.07216	3.21;3.21	5.66	5.66	0.87406	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;0.997;0.997	T	0.43766	-0.9371	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	194;194;194;194	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	P	194	ENSP00000358309:A194P;ENSP00000358303:A194P	ENSP00000358303:A194P	A	-	1	0	EPHA7	94177192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GCT		PASS	0.408	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			12	27	12	27	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96984166	96984166	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:96984166G>T	ENST00000369278.4	+	8	768	c.702G>T	c.(700-702)gtG>gtT	p.V234V		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	234	Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.V234V(1)									GAGGCACTGTGGTTGGTGGGA	0.433																																						uc003por.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(700-702)GTG>GTT		hypothetical protein LOC23376							240.0	218.0	226.0					6																	96984166		2203	4300	6503	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96984166G>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.702G>T	6.37:g.96984166G>T						KIAA0776_uc010kck.2_RNA	p.V234V	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	8	750	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	234			Involved in CDK5RAP3-binding.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.702G>T	CCDS5034.1																																																																																				PASS	0.433	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		5	51	5	51	---	---	---	---
OSTM1	28962	broad.mit.edu	37	6	108375753	108375753	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:108375753T>A	ENST00000193322.3	-	3	641	c.556A>T	c.(556-558)Aca>Tca	p.T186S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	186					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.T186S(1)		central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		AAATATACTGTGCTGTTTGAT	0.264																																					Melanoma(162;1427 1909 3096 17430 21396)	uc003psd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(556-558)ACA>TCA		osteopetrosis associated transmembrane protein 1							100.0	105.0	103.0					6																	108375753		2202	4296	6498	SO:0001583	missense	28962					integral to membrane		g.chr6:108375753T>A	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.556A>T	6.37:g.108375753T>A	ENSP00000193322:p.Thr186Ser						p.T186S	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	3	642	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	186			Extracellular (Potential).		E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	c.556A>T	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056370	0.76074	.	.	ENSG00000081087	ENST00000193322;ENST00000440575	T	0.56103	0.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74993	-0.3474	10	0.72032	D	0.01	-9.3235	14.1596	0.65438	0.0:0.0:0.0:1.0	.	186	Q86WC4	OSTM1_HUMAN	S	186;39	ENSP00000193322:T186S	ENSP00000193322:T186S	T	-	1	0	OSTM1	108482446	1.000000	0.71417	0.991000	0.47740	0.732000	0.41865	5.580000	0.67464	2.094000	0.63399	0.533000	0.62120	ACA		PASS	0.264	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		6	12	6	12	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117632279	117632279	+	Splice_Site	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:117632279A>T	ENST00000368508.3	-	39	6335	c.6137T>A	c.(6136-6138)tTt>tAt	p.F2046Y	ROS1_ENST00000368507.3_Splice_Site_p.F2040Y	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2046	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F2046Y(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGACCATAAAACTGTAAGAA	0.343			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6136-6138)TTT>TAT		proto-oncogene c-ros-1 protein precursor							92.0	88.0	89.0					6																	117632279		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117632279A>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6136-1T>A	6.37:g.117632279A>T						ROS1_uc011ebi.1_RNA	p.F2046Y	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	39	6336	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2046			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6137T>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223004	0.58668	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.89050	-2.46;-2.46	5.85	4.69	0.59074	.	0.265128	0.32884	N	0.005528	T	0.65238	0.2672	N	0.04880	-0.145	0.31557	N	0.658012	P	0.43701	0.815	P	0.51101	0.659	T	0.66056	-0.6018	10	0.02654	T	1	.	8.2217	0.31545	0.8479:0.0:0.1521:0.0	.	2046	P08922	ROS1_HUMAN	Y	2046;2040	ENSP00000357494:F2046Y;ENSP00000357493:F2040Y	ENSP00000357493:F2040Y	F	-	2	0	ROS1	117738972	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.816000	0.38992	1.045000	0.40225	0.533000	0.62120	TTT		PASS	0.343	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Missense_Mutation	16	18	16	18	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132874419	132874419	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:132874419C>T	ENST00000275200.1	+	1	588	c.588C>T	c.(586-588)ggC>ggT	p.G196G		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	196					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.G196G(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TAAGTCAAGGCTGGGTGTTGA	0.378																																						uc011ecj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(586-588)GGC>GGT		trace amine associated receptor 8							257.0	255.0	256.0					6																	132874419		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874419C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.588C>T	6.37:g.132874419C>T							p.G196G	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	588	+	Breast(56;0.112)		196			Helical; Name=5; (Potential).		Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.588C>T	CCDS5154.1																																																																																				PASS	0.378	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		14	42	14	42	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135784438	135784438	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:135784438C>T	ENST00000367800.4	-	6	972	c.756G>A	c.(754-756)ttG>ttA	p.L252L	AHI1_ENST00000327035.6_Silent_p.L252L|AHI1_ENST00000457866.2_Silent_p.L252L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	252	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.L252L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CAGAGATGGTCAATGTACTAC	0.323																																						uc003qgi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(754-756)TTG>TTA		Abelson helper integration site 1 isoform a							137.0	125.0	129.0					6																	135784438		1834	4085	5919	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784438C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.756G>A	6.37:g.135784438C>T						AHI1_uc003qgh.2_Silent_p.L252L|AHI1_uc003qgj.2_Silent_p.L252L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.L252L	p.L252L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	8	1140	-	Breast(56;0.239)|Colorectal(23;0.24)		252					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.756G>A	CCDS47483.1																																																																																				PASS	0.323	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		23	36	23	36	---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147685233	147685233	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:147685233A>G	ENST00000321680.6	+	25	3012	c.3012A>G	c.(3010-3012)gcA>gcG	p.A1004A	STXBP5_ENST00000367480.3_Silent_p.A951A|STXBP5_ENST00000179882.6_Silent_p.A659A|STXBP5_ENST00000367481.3_Silent_p.A968A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1004					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.A968A(1)|p.A1004A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATGGACAAGCATTATACCTTG	0.363																																						uc003qlz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3010-3012)GCA>GCG		syntaxin binding protein 5 (tomosyn) isoform b							149.0	139.0	143.0					6																	147685233		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685233A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3012A>G	6.37:g.147685233A>G						STXBP5_uc010khz.1_Silent_p.A968A|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.A659A	p.A1004A	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	25	3173	+		Ovarian(120;0.0164)	1004			WD 14.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.3012A>G	CCDS47499.1																																																																																				PASS	0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			16	31	16	31	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152605154	152605154	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr6:152605154T>C	ENST00000367255.5	-	96	18767	c.18166A>G	c.(18166-18168)Acc>Gcc	p.T6056A	SYNE1_ENST00000265368.4_Missense_Mutation_p.T6056A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5668A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5985A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T580A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5985A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6056					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.T6056A(2)|p.T5985A(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)		ATCCTGATGGTGGACATTCGC	0.532										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.(18166-18168)ACC>GCC		spectrin repeat containing, nuclear envelope 1							72.0	71.0	71.0					6																	152605154		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.chr6:152605154T>C	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.18166A>G	6.37:g.152605154T>C	ENSP00000356224:p.Thr6056Ala	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.T580A|SYNE1_uc003qos.3_Missense_Mutation_p.T580A|SYNE1_uc003qot.3_Missense_Mutation_p.T5985A|SYNE1_uc003qou.3_Missense_Mutation_p.T6056A|SYNE1_uc010kiy.1_Missense_Mutation_p.T235A	p.T6056A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18768	-		Ovarian(120;0.0955)	6056			Spectrin 20.|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.18166A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419889	0.83559	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.61	5.61	0.85477	.	0.207171	0.33457	N	0.004892	T	0.45955	0.1368	M	0.66939	2.045	0.58432	D	0.999992	D;P;P;D	0.71674	0.998;0.473;0.473;0.998	P;B;B;D	0.72338	0.888;0.271;0.271;0.977	T	0.49224	-0.8962	10	0.66056	D	0.02	.	15.8384	0.78818	0.0:0.0:0.0:1.0	.	471;6056;6056;5985	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	6056;5985;6056;5985;5668;580;231	ENSP00000356224:T6056A;ENSP00000396024:T5985A;ENSP00000265368:T6056A;ENSP00000390975:T5985A;ENSP00000341887:T5668A;ENSP00000349276:T580A;ENSP00000437411:T231A	ENSP00000265368:T6056A	T	-	1	0	SYNE1	152646847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.621000	0.83083	2.141000	0.66446	0.477000	0.44152	ACC		PASS	0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	25	7	25	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2259027	2259027	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:2259027C>T	ENST00000406869.1	-	6	1093	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	MAD1L1_ENST00000402746.1_Missense_Mutation_p.R87Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R179Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R179Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	179					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.R179Q(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCGCTTCACCCGCATCTCCTG	0.632																																						uc003slh.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(535-537)CGG>CAG		MAD1-like 1 protein							35.0	37.0	36.0					7																	2259027		2046	4218	6264	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259027C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.536G>A	7.37:g.2259027C>T	ENSP00000385334:p.Arg179Gln					MAD1L1_uc003slf.1_Missense_Mutation_p.R179Q|MAD1L1_uc003slg.1_Missense_Mutation_p.R179Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.R179Q|MAD1L1_uc003sli.1_Missense_Mutation_p.R87Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.R132Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.R179Q	p.R179Q	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	802	-		Ovarian(82;0.0272)	179			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.536G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.154607	0.01700	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625;ENST00000455998	T;T;T;T;T;D;T	0.82081	2.18;2.18;2.18;2.18;2.18;-1.57;-1.07	5.4	4.26	0.50523	.	0.314820	0.34555	N	0.003873	T	0.43765	0.1262	N	0.00104	-2.125	0.20703	N	0.999863	B;B;B;B	0.14805	0.003;0.011;0.003;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.49062	-0.8978	10	0.05833	T	0.94	-30.7929	9.7642	0.40550	0.0:0.0828:0.0:0.9172	.	108;179;87;179	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	Q	87;179;179;179;56;108;132	ENSP00000384155:R87Q;ENSP00000382562:R179Q;ENSP00000385334:R179Q;ENSP00000265854:R179Q;ENSP00000401901:R56Q;ENSP00000413139:R108Q;ENSP00000390099:R132Q	ENSP00000265854:R179Q	R	-	2	0	MAD1L1	2225553	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	2.551000	0.45820	0.915000	0.36847	-0.367000	0.07326	CGG		PASS	0.632	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		4	12	4	12	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17915137	17915137	+	Silent	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:17915137A>T	ENST00000409389.1	-	7	802	c.630T>A	c.(628-630)cgT>cgA	p.R210R	SNX13_ENST00000428135.3_Silent_p.R210R			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	210	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R210R(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ACACTAGATCACGGCAAACCT	0.358																																						uc003stw.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(628-630)CGT>CGA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							92.0	88.0	89.0					7																	17915137		1828	4102	5930	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915137A>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.630T>A	7.37:g.17915137A>T						SNX13_uc003stv.2_Silent_p.R210R|SNX13_uc010kuc.2_Silent_p.R7R|SNX13_uc003stx.1_Silent_p.R130R	p.R210R			Q9Y5W8	SNX13_HUMAN			7	843	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		210			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.630T>A																																																																																					PASS	0.358	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		17	32	17	32	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17930108	17930108	+	Splice_Site	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:17930108C>A	ENST00000409389.1	-	5	491		c.e5-1		SNX13_ENST00000428135.3_Splice_Site|SNX13_ENST00000409604.1_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.?(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ACTGGATAACCTATAACAAAA	0.289																																						uc003stw.1																			1	Unknown(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.e5-1		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							64.0	61.0	62.0					7																	17930108		1794	4063	5857	SO:0001630	splice_region_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17930108C>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.319-1G>T	7.37:g.17930108C>A						SNX13_uc003stv.2_Splice_Site_p.V107_splice|SNX13_uc010kuc.2_Splice_Site|SNX13_uc003stx.1_Splice_Site_p.V27_splice|SNX13_uc003sty.2_Splice_Site_p.V107_splice	p.V107_splice			Q9Y5W8	SNX13_HUMAN			5	532	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)							B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	SNP	ENST00000409389.1	37	c.319_splice		.	.	.	.	.	.	.	.	.	.	C	23.3	4.396909	0.83120	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX13	17896633	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.193000	0.77780	2.746000	0.94184	0.655000	0.94253	.		PASS	0.289	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	5	50	5	50	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30793552	30793552	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:30793552C>G	ENST00000013222.5	+	2	376	c.360C>G	c.(358-360)aaC>aaG	p.N120K	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.N119K|INMT_ENST00000409539.1_Missense_Mutation_p.N119K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	120					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.N120K(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGGAAGGAAACAGGTAGGGGT	0.572																																						uc003tbs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)AAC>AAG		indolethylamine N-methyltransferase							41.0	48.0	46.0					7																	30793552		2203	4300	6503	SO:0001583	missense	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30793552C>G		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.360C>G	7.37:g.30793552C>G	ENSP00000013222:p.Asn120Lys					FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.N119K	p.N120K	NM_006774	NP_006765	O95050	INMT_HUMAN			2	376	+			120					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.360C>G	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526503	0.27299	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.09073	3.02;3.02	3.94	3.94	0.45596	.	0.886520	0.09273	N	0.824859	T	0.05777	0.0151	N	0.13352	0.335	0.28420	N	0.917781	B;B	0.27679	0.185;0.185	B;B	0.23150	0.044;0.044	T	0.16571	-1.0398	10	0.12103	T	0.63	-2.7638	13.8678	0.63598	0.0:1.0:0.0:0.0	.	119;120	B8ZZ69;O95050	.;INMT_HUMAN	K	120;119	ENSP00000013222:N120K;ENSP00000386961:N119K	ENSP00000013222:N120K	N	+	3	2	INMT	30760077	0.910000	0.30920	0.685000	0.30070	0.531000	0.34715	1.160000	0.31761	2.188000	0.69820	0.561000	0.74099	AAC		PASS	0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		9	52	9	52	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31142865	31142865	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:31142865C>A	ENST00000304166.4	+	14	1350	c.1061C>A	c.(1060-1062)tCc>tAc	p.S354Y	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S410Y|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S333Y|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S382Y	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	354					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.S354Y(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGCCCGGTCCACCCTGCTG	0.582																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1060-1062)TCC>TAC		adenylate cyclase activating polypeptide 1							121.0	120.0	120.0					7																	31142865		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31142865C>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1061C>A	7.37:g.31142865C>A	ENSP00000306620:p.Ser354Tyr					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.S333Y|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.S382Y|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.S382Y|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.S381Y|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.S112Y	p.S354Y	NM_001118	NP_001109	P41586	PACR_HUMAN			14	1284	+			354			Helical; Name=6; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1061C>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679062	0.88542	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.55760	1.19;0.5;0.5;0.5	5.58	5.58	0.84498	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.91406	3.205	0.42584	D	0.993224	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.997;0.999;0.999	D	0.83549	0.0100	10	0.87932	D	0	.	17.4555	0.87606	0.0:1.0:0.0:0.0	.	381;382;410;333;354	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	Y	354;181;333;382;410	ENSP00000306620:S354Y;ENSP00000387335:S333Y;ENSP00000379514:S382Y;ENSP00000386395:S410Y	ENSP00000306620:S354Y	S	+	2	0	ADCYAP1R1	31109390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	TCC		PASS	0.582	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		32	59	32	59	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187734	57187734	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:57187734C>A	ENST00000331162.4	-	5	1658	c.1388G>T	c.(1387-1389)aGa>aTa	p.R463I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	463					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.R463I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTGTAGGGTCTCTCTCCAGT	0.418																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1387-1389)AGA>ATA		zinc finger protein 479							70.0	71.0	71.0					7																	57187734		2106	4239	6345	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187734C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1388G>T	7.37:g.57187734C>A	ENSP00000333776:p.Arg463Ile						p.R463I	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1659	-			463						Missense_Mutation	SNP	ENST00000331162.4	37	c.1388G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	9.231	1.035801	0.19590	.	.	ENSG00000185177	ENST00000331162	T	0.20332	2.08	0.955	-1.91	0.07641	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27098	0.0664	M	0.87180	2.865	0.35057	D	0.761212	P	0.36789	0.57	B	0.39805	0.31	T	0.24905	-1.0147	9	0.66056	D	0.02	.	4.551	0.12112	0.0:0.2269:0.0:0.7731	.	463	Q96JC4	ZN479_HUMAN	I	463	ENSP00000333776:R463I	ENSP00000333776:R463I	R	-	2	0	ZNF479	57191676	0.026000	0.19158	0.004000	0.12327	0.004000	0.04260	-0.203000	0.09438	-0.844000	0.04184	-0.893000	0.02921	AGA		PASS	0.418	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		34	55	34	55	---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64439401	64439401	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:64439401T>A	ENST00000282869.6	-	4	1832	c.548A>T	c.(547-549)cAt>cTt	p.H183L		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	183					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H183L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AATTCTCTTATGTCTAATAAG	0.348																																						uc003ttr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)CAT>CTT		zinc finger protein 117							46.0	49.0	48.0					7																	64439401		2154	4275	6429	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439401T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.548A>T	7.37:g.64439401T>A	ENSP00000282869:p.His183Leu						p.H183L	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	1833	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	183			C2H2-type 3.		Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.548A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.730722	0.69074	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	D	0.86865	-2.18	1.2	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93851	0.8033	H	0.97491	4.015	0.32775	N	0.50326	D	0.65815	0.995	P	0.59948	0.866	D	0.91988	0.5600	9	0.87932	D	0	.	6.1567	0.20342	0.0:0.0:0.0:1.0	.	183	Q03924	ZN117_HUMAN	L	183	ENSP00000282869:H183L	ENSP00000282869:H183L	H	-	2	0	ZNF117	64076836	0.999000	0.42202	0.005000	0.12908	0.610000	0.37248	3.907000	0.56348	0.502000	0.28037	0.172000	0.16884	CAT		PASS	0.348	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		5	54	5	54	---	---	---	---
ZNF92	168374	broad.mit.edu	37	7	64863284	64863284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:64863284G>A	ENST00000328747.7	+	4	456	c.257G>A	c.(256-258)tGg>tAg	p.W86*	ZNF92_ENST00000431504.1_Nonsense_Mutation_p.W10*|ZNF92_ENST00000357512.2_Nonsense_Mutation_p.W54*|ZNF92_ENST00000450302.2_Nonsense_Mutation_p.W17*	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	86					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W86*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CAAGATGTTTGGCCAGAGCAC	0.308																																						uc003ttz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(256-258)TGG>TAG		zinc finger protein 92 isoform 2							37.0	40.0	39.0					7																	64863284		2202	4298	6500	SO:0001587	stop_gained	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863284G>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.257G>A	7.37:g.64863284G>A	ENSP00000332595:p.Trp86*					ZNF92_uc003tua.2_Nonsense_Mutation_p.W17*|ZNF92_uc010kzu.2_Nonsense_Mutation_p.W54*|ZNF92_uc003tub.2_Nonsense_Mutation_p.W10*	p.W86*	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			4	400	+		Lung NSC(55;0.159)	86					A6NNF9|Q8N492|Q8NB35	Nonsense_Mutation	SNP	ENST00000328747.7	37	c.257G>A	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151251	0.21371	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	.	.	.	0.418	-0.835	0.10775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	86;10;54;17	.	ENSP00000332595:W86X	W	+	2	0	ZNF92	64500719	0.001000	0.12720	0.018000	0.16275	0.018000	0.09664	-1.292000	0.02772	-0.530000	0.06349	-0.535000	0.04281	TGG		PASS	0.308	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		7	53	7	53	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72400567	72400567	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:72400567C>G	ENST00000434423.2	+	5	1193	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	POM121_ENST00000395270.1_Missense_Mutation_p.T133R|POM121_ENST00000257622.4_Missense_Mutation_p.T133R|POM121_ENST00000358357.3_Missense_Mutation_p.T133R|POM121_ENST00000446813.1_Missense_Mutation_p.T133R			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	398	Pore side. {ECO:0000255}.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T133R(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCTCCTTGACAGGCGCTTAC	0.507																																						uc003twk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1192-1194)ACA>AGA		nuclear pore membrane protein 121							172.0	180.0	177.0					7																	72400567		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72400567C>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1193C>G	7.37:g.72400567C>G	ENSP00000405562:p.Thr398Arg					POM121_uc003twj.2_Missense_Mutation_p.T133R|POM121_uc010lam.1_Missense_Mutation_p.T133R	p.T398R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			5	1193	+		Lung NSC(55;0.163)	398			Ser-rich.|Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.1193C>G		.	.	.	.	.	.	.	.	.	.	C	11.21	1.572503	0.28092	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.07216	3.21;3.23;3.21;3.23;3.47	4.1	4.1	0.47936	.	0.544756	0.15260	N	0.271858	T	0.19927	0.0479	L	0.55481	1.735	0.21967	N	0.999445	D;D	0.69078	0.996;0.997	D;D	0.64237	0.918;0.923	T	0.02617	-1.1133	10	0.72032	D	0.01	.	9.3269	0.37999	0.2323:0.7677:0.0:0.0	.	133;398	A8MXF9;Q96HA1	.;P121A_HUMAN	R	133;133;133;133;398	ENSP00000393020:T133R;ENSP00000257622:T133R;ENSP00000378687:T133R;ENSP00000351124:T133R;ENSP00000405562:T398R	ENSP00000257622:T133R	T	+	2	0	POM121	72038503	0.989000	0.36119	0.585000	0.28666	0.055000	0.15305	2.443000	0.44881	2.110000	0.64415	0.461000	0.40582	ACA		PASS	0.507	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			26	161	26	161	---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73969722	73969722	+	Splice_Site	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:73969722G>C	ENST00000265755.3	+	19	2359		c.e19-1		GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000476977.1_Intron|GTF2IRD1_ENST00000424337.2_Intron|GTF2IRD1_ENST00000455841.2_Intron	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1						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.?(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						TTGGGTCCCAGGAACTGCCTC	0.632																																						uc003uaq.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e19-1		GTF2I repeat domain containing 1 isoform 1							121.0	91.0	101.0					7																	73969722		2203	4300	6503	SO:0001630	splice_region_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73969722G>C	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.1967-1G>C	7.37:g.73969722G>C						GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron	p.G656_splice	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			19	2360	+								O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Splice_Site	SNP	ENST00000265755.3	37	c.1967_splice	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145887	0.21288	.	.	ENSG00000006704	ENST00000265755	.	.	.	3.36	0.765	0.18470	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9473	0.13997	0.4025:0.0:0.5975:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2IRD1	73607658	0.001000	0.12720	0.059000	0.19551	0.336000	0.28762	0.669000	0.25142	0.261000	0.21753	0.655000	0.94253	.		PASS	0.632	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	Intron	4	21	4	21	---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75630284	75630284	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:75630284A>T	ENST00000248600.1	-	8	1076	c.734T>A	c.(733-735)tTt>tAt	p.F245Y	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.F245Y|STYXL1_ENST00000340062.5_Missense_Mutation_p.F149Y|STYXL1_ENST00000431581.1_Missense_Mutation_p.F245Y|STYXL1_ENST00000451157.1_Missense_Mutation_p.F245Y	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	245	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F245Y(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTGGGTGGAAAAGATCAGAAT	0.562																																						uc003uej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)TTT>TAT		map kinase phosphatase-like protein MK-STYX							140.0	117.0	125.0					7																	75630284		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75630284A>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.734T>A	7.37:g.75630284A>T	ENSP00000248600:p.Phe245Tyr					STYXL1_uc003uef.2_Intron|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Missense_Mutation_p.F107Y|STYXL1_uc003uek.3_Missense_Mutation_p.F149Y|STYXL1_uc003uel.2_Missense_Mutation_p.F245Y|STYXL1_uc003uem.2_Missense_Mutation_p.F245Y|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.F245Y|STYXL1_uc003uen.1_Intron	p.F245Y	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			8	907	-			245			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.734T>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048473	0.55110	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000431581;ENST00000451157	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.72	4.72	0.59763	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.71264	0.3319	M	0.67953	2.075	0.80722	D	1	D;D;P	0.67145	0.988;0.996;0.568	P;D;P	0.76071	0.796;0.987;0.678	T	0.72669	-0.4223	9	0.51188	T	0.08	.	10.8833	0.46951	1.0:0.0:0.0:0.0	.	245;149;245	C9J4H0;Q9Y6J8-4;Q9Y6J8	.;.;STYL1_HUMAN	Y	245;245;149;245;245	ENSP00000248600:F245Y;ENSP00000352726:F245Y;ENSP00000343383:F149Y;ENSP00000392221:F245Y;ENSP00000411812:F245Y	ENSP00000248600:F245Y	F	-	2	0	STYXL1	75468220	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	5.741000	0.68638	1.899000	0.54978	0.454000	0.30748	TTT		PASS	0.562	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		5	73	5	73	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81591298	81591298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:81591298G>A	ENST00000356253.5	-	36	3169	c.2914C>T	c.(2914-2916)Cag>Tag	p.Q972*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.Q172*|CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.Q960*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	972					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q960*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGCAGCTCTGCTTGGACAGG	0.448																																						uc003uhr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(2878-2880)CAG>TAG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						128.0	120.0	123.0					7																	81591298		2203	4300	6503	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591298G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2914C>T	7.37:g.81591298G>A	ENSP00000348589:p.Gln972*					CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.Q172*	p.Q960*	NM_000722	NP_000713	P54289	CA2D1_HUMAN			36	3134	-			972			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.2878C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.305059	0.99132	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	.	.	.	5.19	5.19	0.71726	.	0.184114	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.615	14.9054	0.70715	0.0:0.0:0.8478:0.1522	.	.	.	.	X	960;979;972;172	.	ENSP00000284088:Q979X	Q	-	1	0	CACNA2D1	81429234	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.529000	0.67135	2.591000	0.87537	0.650000	0.86243	CAG		PASS	0.448	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				9	54	9	54	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83037796	83037796	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:83037796T>C	ENST00000307792.3	-	6	1025	c.558A>G	c.(556-558)gaA>gaG	p.E186E	SEMA3E_ENST00000427262.1_Silent_p.E126E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	186	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E186E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGCAAACAATTCACTACCTA	0.423																																						uc003uhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(556-558)GAA>GAG		semaphorin 3E precursor							50.0	46.0	48.0					7																	83037796		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83037796T>C	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.558A>G	7.37:g.83037796T>C							p.E186E	NM_012431	NP_036563	O15041	SEM3E_HUMAN			6	1024	-		Medulloblastoma(109;0.109)	186			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.558A>G	CCDS34674.1																																																																																				PASS	0.423	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		14	24	14	24	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86823124	86823124	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:86823124G>T	ENST00000394703.5	+	18	2297	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000432937.2_Missense_Mutation_p.E490D|DMTF1_ENST00000414194.2_Missense_Mutation_p.E312D|DMTF1_ENST00000413276.2_Missense_Mutation_p.E508D|DMTF1_ENST00000331242.7_Missense_Mutation_p.E578D	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	578	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E578D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TTGCCACAGAGGACATCACTT	0.423																																						uc003uih.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1732-1734)GAG>GAT		cyclin D binding myb-like transcription factor 1							155.0	125.0	135.0					7																	86823124		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86823124G>T	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1734G>T	7.37:g.86823124G>T	ENSP00000378193:p.Glu578Asp					DMTF1_uc003uii.2_Missense_Mutation_p.E312D|DMTF1_uc003uij.2_Missense_Mutation_p.E312D|DMTF1_uc011khb.1_Missense_Mutation_p.E490D|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E578D|DMTF1_uc003uin.2_Missense_Mutation_p.E312D	p.E578D	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			16	2060	+	Esophageal squamous(14;0.0058)		578			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1734G>T	CCDS5601.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.82|14.82	2.648206|2.648206	0.47258|0.47258	.|.	.|.	ENSG00000135164|ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194|ENST00000454008	T;T;T;T;T|.	0.51574|.	0.75;0.7;0.73;0.75;0.74|.	6.03|6.03	5.15|5.15	0.70609|0.70609	.|.	0.049184|.	0.85682|.	D|.	0.000000|.	T|T	0.44644|0.44644	0.1303|0.1303	L|L	0.29908|0.29908	0.895|0.895	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.18310|.	0.027|.	B|.	0.18263|.	0.021|.	T|T	0.35674|0.35674	-0.9779|-0.9779	10|5	0.22706|.	T|.	0.39|.	-10.5091|-10.5091	8.0791|8.0791	0.30733|0.30733	0.2362:0.0:0.7638:0.0|0.2362:0.0:0.7638:0.0	.|.	578|.	Q9Y222|.	DMTF1_HUMAN|.	D|M	578;508;490;578;312|46	ENSP00000332171:E578D;ENSP00000402627:E508D;ENSP00000412532:E490D;ENSP00000378193:E578D;ENSP00000415910:E312D|.	ENSP00000332171:E578D|.	E|R	+|+	3|2	2|0	DMTF1|DMTF1	86661060|86661060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.527000|0.527000	0.22987|0.22987	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	GAG|AGG		PASS	0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		7	103	7	103	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89854850	89854850	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:89854850T>A	ENST00000287908.3	+	2	847	c.454T>A	c.(454-456)Tgg>Agg	p.W152R	STEAP2_ENST00000394622.2_Missense_Mutation_p.W152R|STEAP2_ENST00000394621.2_Missense_Mutation_p.W152R|STEAP2_ENST00000394632.1_Missense_Mutation_p.W152R|STEAP2_ENST00000394626.1_Missense_Mutation_p.W152R|STEAP2_ENST00000394629.2_Missense_Mutation_p.W152R|STEAP2_ENST00000402625.2_Missense_Mutation_p.W152R	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	152					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.W152R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGTCTCAGCTTGGGCACTTCA	0.363																																						uc003ujz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(454-456)TGG>AGG		six transmembrane epithelial antigen of the							90.0	93.0	92.0					7																	89854850		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89854850T>A	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.454T>A	7.37:g.89854850T>A	ENSP00000287908:p.Trp152Arg					STEAP2_uc003ujy.2_Missense_Mutation_p.W194R|STEAP2_uc010len.2_Missense_Mutation_p.W152R|STEAP2_uc003uka.2_Missense_Mutation_p.W152R|STEAP2_uc003ukb.2_Missense_Mutation_p.W152R|STEAP2_uc003ukc.2_Missense_Mutation_p.W152R|STEAP2_uc003ukd.2_Missense_Mutation_p.W152R	p.W152R	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			2	847	+	all_hematologic(106;0.112)		152					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.454T>A	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233873	0.79688	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.57	5.57	0.84162	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	M	0.64404	1.975	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;0.994;0.999;0.999	T	0.24190	-1.0167	10	0.87932	D	0	-6.3131	15.7377	0.77859	0.0:0.0:0.0:1.0	.	152;152;152;152	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	R	152	ENSP00000401783:W152R;ENSP00000287908:W152R;ENSP00000378123:W152R;ENSP00000378120:W152R;ENSP00000378128:W152R;ENSP00000378119:W152R;ENSP00000384191:W152R;ENSP00000378125:W152R	ENSP00000287908:W152R	W	+	1	0	STEAP2	89692786	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	8.029000	0.88807	2.131000	0.65755	0.454000	0.30748	TGG		PASS	0.363	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		21	86	21	86	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94038087	94038087	+	Silent	SNP	C	C	T	rs1800227		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:94038087C>T	ENST00000297268.6	+	16	1215	c.744C>T	c.(742-744)ccC>ccT	p.P248P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	248					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P248P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCAGGGTCCCATTGGGTCTG	0.443										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(742-744)CCC>CCT		alpha 2 type I collagen precursor	Collagenase(DB00048)						69.0	68.0	69.0					7																	94038087		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038087C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.744C>T	7.37:g.94038087C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P248P	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	1215	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		248					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.744C>T	CCDS34682.1																																																																																				PASS	0.443	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		10	20	10	20	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95606829	95606829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:95606829G>T	ENST00000324972.6	+	7	740	c.547G>T	c.(547-549)Gag>Tag	p.E183*	DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.E166*|DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.E166*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.E163*|DYNC1I1_ENST00000537881.1_Nonsense_Mutation_p.E146*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.E146*	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	183					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.E183*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTAGAGGATGAGGAAGATGA	0.378																																						uc003uoc.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(547-549)GAG>TAG		dynein, cytoplasmic 1, intermediate chain 1							64.0	66.0	65.0					7																	95606829		2203	4300	6503	SO:0001587	stop_gained	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95606829G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.547G>T	7.37:g.95606829G>T	ENSP00000320130:p.Glu183*					DYNC1I1_uc003uod.3_Nonsense_Mutation_p.E166*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.E146*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.E163*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.E172*	p.E183*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		7	824	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		183					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Nonsense_Mutation	SNP	ENST00000324972.6	37	c.547G>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	37	6.626263	0.97718	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	.	.	.	4.95	4.95	0.65309	.	0.054025	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-18.839	17.7449	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	166;183;146;163;146;166	.	ENSP00000320130:E183X	E	+	1	0	DYNC1I1	95444765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.744000	0.94065	0.655000	0.94253	GAG		PASS	0.378	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		4	27	4	27	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106545676	106545676	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:106545676C>T	ENST00000359195.3	+	11	3463	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	PIK3CG_ENST00000496166.1_Silent_p.I1051I|PIK3CG_ENST00000440650.2_Silent_p.I1051I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1051	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I1051I(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTGAATATATCCGGGATGCCC	0.433																																						uc003vdv.3																			2	Substitution - coding silent(2)	p.I1051I(1)	lung(1)|central_nervous_system(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(3151-3153)ATC>ATT		phosphoinositide-3-kinase, catalytic, gamma							145.0	142.0	143.0					7																	106545676		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106545676C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.3153C>T	7.37:g.106545676C>T						PIK3CG_uc003vdu.2_Silent_p.I1051I|PIK3CG_uc003vdw.2_Silent_p.I1051I	p.I1051I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			11	3238	+			1051			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.3153C>T	CCDS5739.1																																																																																				PASS	0.433	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	113	10	113	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432706	117432706	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:117432706A>G	ENST00000160373.3	-	4	635	c.544T>C	c.(544-546)Tca>Cca	p.S182P	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	182					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S182P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTTTGCCTGAGAGCTGCTTG	0.517																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(544-546)TCA>CCA		cortactin binding protein 2							131.0	127.0	128.0					7																	117432706		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432706A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.544T>C	7.37:g.117432706A>G	ENSP00000160373:p.Ser182Pro						p.S182P	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	636	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		182			Potential.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.544T>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280008	0.59758	.	.	ENSG00000077063	ENST00000160373;ENST00000434890	T;T	0.67171	-0.25;0.9	5.77	5.77	0.91146	.	0.050604	0.85682	D	0.000000	D	0.83667	0.5304	M	0.85859	2.78	0.47862	D	0.999539	D	0.71674	0.998	D	0.78314	0.991	D	0.86363	0.1718	10	0.87932	D	0	1.4536	16.3818	0.83467	1.0:0.0:0.0:0.0	.	182	Q8WZ74	CTTB2_HUMAN	P	182;140	ENSP00000160373:S182P;ENSP00000396014:S140P	ENSP00000160373:S182P	S	-	1	0	CTTNBP2	117219942	0.999000	0.42202	0.996000	0.52242	0.613000	0.37349	1.104000	0.31074	2.330000	0.79161	0.528000	0.53228	TCA		PASS	0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		6	77	6	77	---	---	---	---
ING3	54556	broad.mit.edu	37	7	120593375	120593375	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:120593375G>C	ENST00000315870.5	+	3	266	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	ING3_ENST00000339121.5_Missense_Mutation_p.E40Q|ING3_ENST00000431467.1_Missense_Mutation_p.E25Q|ING3_ENST00000445699.1_Missense_Mutation_p.E40Q	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	40					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E40Q(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GGATCAACTAGAACAAAGAGT	0.308																																						uc003vjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)GAA>CAA		inhibitor of growth family, member 3 isoform 1							97.0	104.0	102.0					7																	120593375		2203	4298	6501	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120593375G>C	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.118G>C	7.37:g.120593375G>C	ENSP00000320566:p.Glu40Gln					ING3_uc011knr.1_Missense_Mutation_p.E40Q|ING3_uc003vjl.2_Missense_Mutation_p.E40Q|ING3_uc003vjm.1_Missense_Mutation_p.E40Q|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.E40Q|ING3_uc011kns.1_Missense_Mutation_p.E25Q	p.E40Q	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			3	252	+	all_neural(327;0.117)		40					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.118G>C	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067184	0.93898	.	.	ENSG00000071243	ENST00000315870;ENST00000339121;ENST00000445699;ENST00000431467	D;D	0.96041	-3.8;-3.89	5.87	5.87	0.94306	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	L	0.60957	1.885	0.80722	D	1	P;D;D;P;D	0.69078	0.837;0.997;0.991;0.804;0.977	P;D;D;P;P	0.81914	0.694;0.995;0.988;0.568;0.856	D	0.96682	0.9504	10	0.51188	T	0.08	-25.9266	19.3531	0.94398	0.0:0.0:1.0:0.0	.	40;40;40;40;40	B7ZKQ7;Q5GRH6;Q9NXR8;Q9NXR8-2;C9JUT0	.;.;ING3_HUMAN;.;.	Q	40;40;40;25	ENSP00000320566:E40Q;ENSP00000388506:E25Q	ENSP00000320566:E40Q	E	+	1	0	ING3	120380611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.308	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		9	59	9	59	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635112	122635112	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:122635112G>A	ENST00000249284.2	-	1	642	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.L193L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGGAGGCCAGGAACAGGATG	0.448																																						uc003vkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(577-579)CTG>TTG		taste receptor T2R16							151.0	130.0	137.0					7																	122635112		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635112G>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.577C>T	7.37:g.122635112G>A							p.L193L	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	643	-			193			Helical; Name=5; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.577C>T	CCDS5785.1																																																																																				PASS	0.448	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		24	90	24	90	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135073610	135073610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:135073610G>T	ENST00000315544.5	-	11	1943	c.1664C>A	c.(1663-1665)tCa>tAa	p.S555*	CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000428680.2_Nonsense_Mutation_p.S552*|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	555					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S555*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGAAGAGGTTGACAGTGGCAT	0.463																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1663-1665)TCA>TAA		CCR4-NOT transcription complex, subunit 4							156.0	150.0	152.0					7																	135073610		1965	4164	6129	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135073610G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1664C>A	7.37:g.135073610G>T	ENSP00000326731:p.Ser555*					CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Intron|CNOT4_uc003vst.2_Intron|CNOT4_uc003vsu.1_Nonsense_Mutation_p.S552*|CNOT4_uc011kpy.1_Intron	p.S555*	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	1971	-			555					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.1664C>A	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.818669	0.98507	.	.	ENSG00000080802	ENST00000428680;ENST00000315544	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.44439	D	0.997366	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	552;555	.	ENSP00000326731:S555X	S	-	2	0	CNOT4	134724150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	2.832000	0.97577	0.655000	0.94253	TCA		PASS	0.463	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		12	56	12	56	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700851	136700851	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:136700851T>C	ENST00000445907.2	+	3	1767	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	CHRM2_ENST00000320658.5_Silent_p.C413C|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C413C|CHRM2_ENST00000453373.1_Silent_p.C413C|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C413C|CHRM2_ENST00000401861.1_Silent_p.C413C	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	413					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.C413C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACACCTTTTGTGCACCTTGCA	0.473																																						uc003vtf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1237-1239)TGT>TGC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						259.0	210.0	227.0					7																	136700851		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700851T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1239T>C	7.37:g.136700851T>C						CHRM2_uc003vtg.1_Silent_p.C413C|CHRM2_uc003vtj.1_Silent_p.C413C|CHRM2_uc003vtk.1_Silent_p.C413C|CHRM2_uc003vtl.1_Silent_p.C413C|CHRM2_uc003vtm.1_Silent_p.C413C|CHRM2_uc003vti.1_Silent_p.C413C|CHRM2_uc003vto.1_Silent_p.C413C|CHRM2_uc003vtn.1_Silent_p.C413C|uc003vtp.1_Intron	p.C413C	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1862	+			413			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1239T>C	CCDS5843.1																																																																																				PASS	0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			17	64	17	64	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142627186	142627186	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:142627186C>T	ENST00000265310.1	-	3	664	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	TRPV5_ENST00000442623.1_Missense_Mutation_p.V106I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	106					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V106I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGCTCAAAGACCAGCTCTGGG	0.557																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(316-318)GTC>ATC		transient receptor potential cation channel,							90.0	87.0	88.0					7																	142627186		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142627186C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.316G>A	7.37:g.142627186C>T	ENSP00000265310:p.Val106Ile					TRPV5_uc003wbz.2_Missense_Mutation_p.V106I	p.V106I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			3	580	-	Melanoma(164;0.059)		106			Cytoplasmic (Potential).|ANK 2.		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.316G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	5.950	0.359368	0.11239	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.79247	-1.25;-1.22;-0.84	4.3	3.42	0.39159	Ankyrin repeat-containing domain (3);	0.120184	0.56097	D	0.000029	T	0.66858	0.2832	L	0.41573	1.285	0.44018	D	0.996733	B;B	0.17667	0.008;0.023	B;B	0.31245	0.126;0.11	T	0.55879	-0.8071	10	0.02654	T	1	-10.48	11.3489	0.49577	0.0:0.9096:0.0:0.0904	.	106;106	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	I	106;100;106	ENSP00000265310:V106I;ENSP00000406361:V100I;ENSP00000406572:V106I	ENSP00000265310:V106I	V	-	1	0	TRPV5	142337308	1.000000	0.71417	0.014000	0.15608	0.203000	0.24098	1.619000	0.36965	1.167000	0.42706	0.313000	0.20887	GTC		PASS	0.557	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		7	53	7	53	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150921189	150921189	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:150921189G>A	ENST00000287844.2	-	4	488	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	ABCF2_ENST00000222388.2_Silent_p.L127L|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	127	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.L127L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGAGAGCAGCATGGACTTT	0.547																																						uc003wjp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(379-381)CTG>TTG		ATP-binding cassette, sub-family F, member 2							83.0	74.0	77.0					7																	150921189		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921189G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.379C>T	7.37:g.150921189G>A						ABCF2_uc003wjo.1_Silent_p.L127L	p.L127L	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	490	-			127			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.379C>T	CCDS5923.1																																																																																				PASS	0.547	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		29	27	29	27	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150921902	150921902	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr7:150921902G>A	ENST00000287844.2	-	3	436	c.327C>T	c.(325-327)aaC>aaT	p.N109N	ABCF2_ENST00000222388.2_Silent_p.N109N|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	109	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.N109N(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACGGCCTGAGTTTAATTCCA	0.488																																						uc003wjp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(325-327)AAC>AAT		ATP-binding cassette, sub-family F, member 2							103.0	90.0	94.0					7																	150921902		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921902G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.327C>T	7.37:g.150921902G>A						ABCF2_uc003wjo.1_Silent_p.N109N	p.N109N	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	438	-			109			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.327C>T	CCDS5923.1																																																																																				PASS	0.488	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		36	45	36	45	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19214747	19214747	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:19214747A>G	ENST00000265807.3	+	5	958	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	SH2D4A_ENST00000519207.1_Missense_Mutation_p.M183V|SH2D4A_ENST00000518040.1_Missense_Mutation_p.M138V	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	183					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.M183V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TATTCAACAAATGTTGGCAGA	0.403																																						uc003wzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)ATG>GTG		SH2 domain containing 4A							129.0	127.0	128.0					8																	19214747		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19214747A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.547A>G	8.37:g.19214747A>G	ENSP00000265807:p.Met183Val					SH2D4A_uc011kym.1_Missense_Mutation_p.M138V|SH2D4A_uc003wzc.2_Missense_Mutation_p.M183V	p.M183V	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	5	883	+			183					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.547A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825809	0.32237	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;D;T	0.94457	2.81;-3.43;2.81	5.46	5.46	0.80206	.	0.086406	0.50627	D	0.000115	D	0.85427	0.5694	N	0.08118	0	0.26475	N	0.975207	B;B	0.30406	0.278;0.131	B;B	0.27887	0.084;0.039	T	0.73956	-0.3819	10	0.12766	T	0.61	.	12.2195	0.54425	1.0:0.0:0.0:0.0	.	138;183	B4DDR1;Q9H788	.;SH24A_HUMAN	V	183;138;183	ENSP00000265807:M183V;ENSP00000429482:M138V;ENSP00000428684:M183V	ENSP00000265807:M183V	M	+	1	0	SH2D4A	19259027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.191000	0.70037	0.533000	0.62120	ATG		PASS	0.403	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		32	18	32	18	---	---	---	---
PPP3CC	5533	broad.mit.edu	37	8	22368619	22368619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:22368619C>T	ENST00000240139.5	+	5	832	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	PPP3CC_ENST00000518852.1_Nonsense_Mutation_p.Q169*|PPP3CC_ENST00000289963.8_Nonsense_Mutation_p.Q169*|PPP3CC_ENST00000397775.3_Nonsense_Mutation_p.Q169*	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	169					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.Q169*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		ATATTCGGAACAGGTGTATGA	0.398																																						uc003xbs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(505-507)CAG>TAG		protein phosphatase 3, catalytic subunit, gamma							195.0	172.0	180.0					8																	22368619		2203	4300	6503	SO:0001587	stop_gained	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368619C>T		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.505C>T	8.37:g.22368619C>T	ENSP00000240139:p.Gln169*					PPP3CC_uc003xbr.1_Nonsense_Mutation_p.Q169*|PPP3CC_uc011kzi.1_Nonsense_Mutation_p.Q169*|PPP3CC_uc003xbt.2_Nonsense_Mutation_p.Q169*	p.Q169*	NM_005605	NP_005596	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	832	+		Prostate(55;0.104)	169					B4DRT5|Q9BSS6|Q9H4M5	Nonsense_Mutation	SNP	ENST00000240139.5	37	c.505C>T	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	C	40	7.970183	0.98588	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.	.	.	6.03	0.742	0.18341	.	0.752978	0.12977	N	0.423614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.1437	11.2052	0.48765	0.2175:0.4173:0.3652:0.0	.	.	.	.	X	169	.	ENSP00000240139:Q169X	Q	+	1	0	PPP3CC	22424564	0.045000	0.20229	0.945000	0.38365	0.997000	0.91878	0.087000	0.14958	0.093000	0.17368	0.655000	0.94253	CAG		PASS	0.398	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		10	87	10	87	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32599566	32599566	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:32599566G>T	ENST00000405005.3	+	7	673	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L	NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Missense_Mutation_p.V225L|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000338921.4_Missense_Mutation_p.V225L|NRG1_ENST00000521670.1_Missense_Mutation_p.V225L|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000539990.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1	225					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V225L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TACTGAGAATGTGCCCATGAA	0.403																																						uc003xiv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)GTG>TTG		neuregulin 1 isoform HRG-alpha							130.0	115.0	120.0					8																	32599566		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32599566G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.673G>T	8.37:g.32599566G>T	ENSP00000384620:p.Val225Leu					NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Missense_Mutation_p.V225L|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Missense_Mutation_p.V115L|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Missense_Mutation_p.V71L|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_RNA|NRG1_uc003xja.2_Missense_Mutation_p.V28L	p.V225L	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	7	1190	+		Breast(100;0.203)	225			Extracellular (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.673G>T	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.815100|1.815100	0.32053|0.32053	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518206|ENST00000338921;ENST00000287840;ENST00000341377;ENST00000405005;ENST00000521670;ENST00000522402	.|D;D;D;D;D;D	.|0.91631	.|-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.141721	.|0.46145	.|D	.|0.000303	D|D	0.85548|0.85548	0.5722|0.5722	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B;B;P;B	.|0.36753	.|0.25;0.048;0.011;0.568;0.097	.|B;B;B;B;B	.|0.34093	.|0.041;0.015;0.007;0.175;0.099	D|D	0.83507|0.83507	0.0078|0.0078	5|10	.|0.11485	.|T	.|0.65	-3.2091|-3.2091	16.7795|16.7795	0.85559|0.85559	0.0:0.137:0.863:0.0|0.0:0.137:0.863:0.0	.|.	.|71;225;225;225;225	.|B7Z1D7;Q02297-2;Q02297-4;Q02297;Q02297-3	.|.;.;.;NRG1_HUMAN;.	I|L	103|225;225;225;225;225;71	.|ENSP00000343395:V225L;ENSP00000287840:V225L;ENSP00000340497:V225L;ENSP00000384620:V225L;ENSP00000428828:V225L;ENSP00000430862:V71L	.|ENSP00000287840:V225L	M|V	+|+	3|1	0|0	NRG1|NRG1	32719108|32719108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.536000|4.536000	0.60636|0.60636	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	ATG|GTG		PASS	0.403	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			33	12	33	12	---	---	---	---
POLB	5423	broad.mit.edu	37	8	42196567	42196567	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:42196567C>T	ENST00000265421.4	+	2	269	c.99C>T	c.(97-99)atC>atT	p.I33I	POLB_ENST00000538005.1_Intron|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	33					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.I33I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GCCAAGCTATCCACAAGTACA	0.483								DNA polymerases (catalytic subunits)																														uc003xoz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(97-99)ATC>ATT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase beta	Cytarabine(DB00987)						114.0	89.0	98.0					8																	42196567		2203	4300	6503	SO:0001819	synonymous_variant	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196567C>T		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.99C>T	8.37:g.42196567C>T						POLB_uc003xpa.1_Silent_p.I33I|POLB_uc011lcs.1_Intron	p.I33I	NM_002690	NP_002681	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		2	212	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	33					B2RC78|Q3KP48|Q6FI34	Silent	SNP	ENST00000265421.4	37	c.99C>T	CCDS6129.1																																																																																				PASS	0.483	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		6	33	6	33	---	---	---	---
RNF170	81790	broad.mit.edu	37	8	42729125	42729125	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:42729125T>C	ENST00000534961.1	-	3	638	c.162A>G	c.(160-162)ccA>ccG	p.P54P	RNF170_ENST00000527424.1_Silent_p.P54P|RNF170_ENST00000319104.3_Silent_p.P54P|RNF170_ENST00000319073.4_5'UTR|RNF170_ENST00000526349.1_5'UTR	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	54					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P54P(1)		lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CCTGGTTTTCTGGGTGAATGT	0.328																																						uc003xpo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)CCA>CCG		ring finger protein 170 isoform a							142.0	130.0	134.0					8																	42729125		2203	4300	6503	SO:0001819	synonymous_variant	81790					integral to membrane	zinc ion binding	g.chr8:42729125T>C	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.162A>G	8.37:g.42729125T>C						RNF170_uc011lcx.1_Silent_p.P54P|RNF170_uc010lxp.2_5'UTR|RNF170_uc003xpm.2_Silent_p.P54P|RNF170_uc003xpp.2_5'UTR|RNF170_uc003xpn.2_5'UTR|RNF170_uc003xpq.3_Silent_p.P54P	p.P54P	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		3	639	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	54					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Silent	SNP	ENST00000534961.1	37	c.162A>G	CCDS6138.1																																																																																				PASS	0.328	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		7	39	7	39	---	---	---	---
HGSNAT	138050	broad.mit.edu	37	8	43033220	43033220	+	Silent	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:43033220T>C	ENST00000458501.2	+	10	939	c.939T>C	c.(937-939)ttT>ttC	p.F313F	HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.F285F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	313					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.F313F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTTTAGGTTTGTATTTATTA	0.328																																						uc003xpx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(853-855)TTT>TTC		heparan-alpha-glucosaminide N-acetyltransferase							112.0	113.0	113.0					8																	43033220		1793	4063	5856	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43033220T>C		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.939T>C	8.37:g.43033220T>C							p.F285F	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		10	903	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	313			Helical; (Potential).		B4E2V0	Silent	SNP	ENST00000458501.2	37	c.855T>C																																																																																					PASS	0.328	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		53	51	53	51	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320691	52320691	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:52320691C>A	ENST00000356297.4	-	17	3593	c.3493G>T	c.(3493-3495)Gtt>Ttt	p.V1165F	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1165F	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1165					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V1165F(1)|p.V364F(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTTCTTAACTGAAGTCAAA	0.398																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3493-3495)GTT>TTT		peroxidasin homolog-like precursor							71.0	70.0	70.0					8																	52320691		1822	4094	5916	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320691C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3493G>T	8.37:g.52320691C>A	ENSP00000348645:p.Val1165Phe					PXDNL_uc003xqt.3_RNA	p.V1165F	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3594	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1165					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3493G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.452018|1.452018	0.26074|0.26074	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.70282	.|-0.47;-0.47	3.69|3.69	2.79|2.79	0.32731|0.32731	.|.	.|1.061000	.|0.07464	.|N	.|0.901202	T|T	0.80226|0.80226	0.4584|0.4584	M|M	0.75447|0.75447	2.3|2.3	0.09310|0.09310	N|N	1|1	.|P	.|0.52463	.|0.953	.|P	.|0.57009	.|0.811	T|T	0.62932|0.62932	-0.6749|-0.6749	5|10	.|0.72032	.|D	.|0.01	.|.	8.4699|8.4699	0.32980|0.32980	0.0:0.878:0.0:0.122|0.0:0.878:0.0:0.122	.|.	.|1165	.|A1KZ92	.|PXDNL_HUMAN	H|F	283|1165	.|ENSP00000348645:V1165F;ENSP00000444865:V1165F	.|ENSP00000348645:V1165F	Q|V	-|-	3|1	2|0	PXDNL|PXDNL	52483244|52483244	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	1.947000|1.947000	0.40293|0.40293	0.507000|0.507000	0.28148|0.28148	0.563000|0.563000	0.77884|0.77884	CAG|GTT		PASS	0.398	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	45	8	45	---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54142385	54142385	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:54142385G>A	ENST00000265572.3	-	4	912	c.615C>T	c.(613-615)gtC>gtT	p.V205V	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V205V|OPRK1_ENST00000524278.1_Silent_p.V116V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	205					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.V205V(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAATGACATCGACGTCTGGAG	0.423																																						uc003xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(613-615)GTC>GTT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						40.0	44.0	43.0					8																	54142385		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142385G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.615C>T	8.37:g.54142385G>A						OPRK1_uc003xri.1_Silent_p.V205V|OPRK1_uc010lyc.1_Silent_p.V116V	p.V205V	NM_000912	NP_000903	P41145	OPRK_HUMAN			3	990	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	205			Extracellular (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.615C>T	CCDS6152.1																																																																																				PASS	0.423	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			5	42	5	42	---	---	---	---
NKAIN3	286183	broad.mit.edu	37	8	63659590	63659590	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:63659590G>T	ENST00000523211.1	+	4	505	c.373G>T	c.(373-375)Ggc>Tgc	p.G125C	NKAIN3_ENST00000328472.5_Missense_Mutation_p.G125C|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G125C(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTCAGCCCATGGCATGATGGA	0.507																																						uc010lyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)GGC>TGC		Na+/K+ transporting ATPase interacting 3							134.0	135.0	135.0					8																	63659590		2093	4232	6325	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659590G>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.373G>T	8.37:g.63659590G>T	ENSP00000429073:p.Gly125Cys						p.G125C	NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN			4	505	+	Breast(64;0.127)	Lung NSC(129;0.187)	125						Missense_Mutation	SNP	ENST00000523211.1	37	c.373G>T	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047830	0.75846	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.14144	2.53;2.53;2.53	5.49	4.61	0.57282	.	0.298239	0.34046	N	0.004316	T	0.19846	0.0477	L	0.42245	1.32	0.34747	D	0.731371	D	0.54047	0.964	P	0.53185	0.72	T	0.22243	-1.0222	10	0.56958	D	0.05	-24.437	9.5435	0.39266	0.1591:0.0:0.8409:0.0	.	125	Q8N8D7	NKAI3_HUMAN	C	125;125;98;125	ENSP00000429073:G125C;ENSP00000429393:G98C;ENSP00000333627:G125C	ENSP00000333627:G125C	G	+	1	0	NKAIN3	63822144	1.000000	0.71417	0.772000	0.31596	0.980000	0.70556	4.670000	0.61583	1.318000	0.45170	0.650000	0.86243	GGC		PASS	0.507	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		7	37	7	37	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72948636	72948636	+	Silent	SNP	C	C	G	rs146434598	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:72948636C>G	ENST00000262209.4	-	21	2649	c.2442G>C	c.(2440-2442)acG>acC	p.T814T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	814					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.T814T(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATGATGCCCGTCGTGTAGA	0.353																																						uc003xza.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2440-2442)ACG>ACC		ankyrin-like protein 1	Menthol(DB00825)						62.0	62.0	62.0					8																	72948636		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72948636C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2442G>C	8.37:g.72948636C>G						uc011lff.1_Intron|uc003xyy.2_Intron	p.T814T	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2617	-			814			Helical; Name=3; (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2442G>C	CCDS34908.1																																																																																				PASS	0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		5	44	5	44	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775400	77775400	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:77775400C>A	ENST00000521891.2	+	11	9898	c.9450C>A	c.(9448-9450)ctC>ctA	p.L3150L	ZFHX4_ENST00000518282.1_Silent_p.L3124L|ZFHX4_ENST00000455469.2_Silent_p.L3105L|ZFHX4_ENST00000050961.6_Silent_p.L3101L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L3134L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTGTCTCTCAGCAGTGCCC	0.567										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9313-9315)CTC>CTA		zinc finger homeodomain 4							76.0	77.0	77.0					8																	77775400		2101	4226	6327	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775400C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9450C>A	8.37:g.77775400C>A		HNSCC(33;0.089)					p.L3105L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9702	+			3101			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9315C>A	CCDS47878.2																																																																																				PASS	0.567	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	6	6	6	---	---	---	---
FAM92A1	137392	broad.mit.edu	37	8	94717142	94717142	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:94717142C>T	ENST00000518322.1	+	4	477	c.336C>T	c.(334-336)gaC>gaT	p.D112D	FAM92A1_ENST00000522324.1_Silent_p.D112D|FAM92A1_ENST00000517718.1_5'Flank|FAM92A1_ENST00000423990.2_Silent_p.D112D	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	112								p.D112D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGCAGGATGACCTCAAAGCAA	0.333																																						uc010maq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)GAC>GAT		hypothetical protein LOC137392							94.0	83.0	86.0					8																	94717142		1882	4111	5993	SO:0001819	synonymous_variant	137392							g.chr8:94717142C>T		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.336C>T	8.37:g.94717142C>T						FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	p.D112D	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		4	439	+	Breast(36;2.4e-06)		112			Potential.		A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Silent	SNP	ENST00000518322.1	37	c.336C>T	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902524	0.17760	.	.	ENSG00000188343	ENST00000523453	.	.	.	5.68	0.109	0.14578	.	.	.	.	.	T	0.54919	0.1888	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47787	-0.9090	4	.	.	.	-1.0539	8.5277	0.33315	0.0:0.2991:0.0:0.7009	.	.	.	.	S	123	.	.	P	+	1	0	FAM92A1	94786318	0.997000	0.39634	0.999000	0.59377	0.950000	0.60333	0.387000	0.20718	0.129000	0.18514	0.655000	0.94253	CCT		PASS	0.333	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		22	49	22	49	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100050736	100050736	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:100050736C>A	ENST00000358544.2	+	3	344	c.233C>A	c.(232-234)cCa>cAa	p.P78Q	VPS13B_ENST00000355155.1_Missense_Mutation_p.P78Q|VPS13B_ENST00000395996.1_Missense_Mutation_p.P78Q|VPS13B_ENST00000441350.2_Missense_Mutation_p.P78Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.P78Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	78					protein transport (GO:0015031)			p.P78Q(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGTTCAGAACCAGTGGTAATT	0.318																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(232-234)CCA>CAA		vacuolar protein sorting 13B isoform 5							79.0	76.0	77.0					8																	100050736		2203	4295	6498	SO:0001583	missense	157680				protein transport			g.chr8:100050736C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.233C>A	8.37:g.100050736C>A	ENSP00000351346:p.Pro78Gln					VPS13B_uc003yiw.2_Missense_Mutation_p.P78Q|VPS13B_uc003yit.2_Missense_Mutation_p.P78Q|VPS13B_uc003yiu.1_Missense_Mutation_p.P78Q|VPS13B_uc003yis.2_Missense_Mutation_p.P78Q|VPS13B_uc011lgy.1_5'UTR	p.P78Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		3	344	+	Breast(36;3.73e-07)		78					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.233C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905945	0.92107	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.75	5.75	0.90469	.	0.132373	0.50627	D	0.000119	D	0.92662	0.7668	M	0.79475	2.455	0.58432	D	0.999998	P;P;P;P;D	0.65815	0.853;0.879;0.929;0.929;0.995	P;P;P;P;D	0.71184	0.477;0.611;0.655;0.761;0.972	D	0.92874	0.6317	10	0.87932	D	0	.	19.9439	0.97175	0.0:1.0:0.0:0.0	.	78;78;78;78;78	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Q	78	ENSP00000347281:P78Q;ENSP00000349685:P78Q;ENSP00000351346:P78Q;ENSP00000379318:P78Q;ENSP00000398472:P78Q	ENSP00000347281:P78Q	P	+	2	0	VPS13B	100119912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.706000	0.92434	0.561000	0.74099	CCA		PASS	0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	29	4	29	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101719181	101719181	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:101719181G>C	ENST00000318607.5	-	10	2509	c.1381C>G	c.(1381-1383)Cca>Gca	p.P461A	PABPC1_ENST00000519004.1_Missense_Mutation_p.P416A|PABPC1_ENST00000522387.1_Missense_Mutation_p.P429A|PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	461					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.P461A(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTAAATGGTGGTCTAGGAGCA	0.418																																						uc003yjs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)CCA>GCA		poly(A) binding protein, cytoplasmic 1							86.0	81.0	83.0					8																	101719181		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719181G>C	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1381C>G	8.37:g.101719181G>C	ENSP00000313007:p.Pro461Ala					PABPC1_uc011lhc.1_Missense_Mutation_p.P429A|PABPC1_uc011lhd.1_Missense_Mutation_p.P416A|PABPC1_uc003yjt.1_Missense_Mutation_p.P458A|PABPC1_uc003yju.2_Intron	p.P461A	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		10	1885	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		461					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1381C>G	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.837531|3.837531	0.71373|0.71373	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.44083	.|1.58;1.49;2.48;0.93	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.38081|0.38081	0.1027|0.1027	L|L	0.41236|0.41236	1.265|1.265	0.53005|0.53005	D|D	0.999969|0.999969	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.10941|0.10941	-1.0608|-1.0608	5|9	.|.	.|.	.|.	.|.	20.0338|20.0338	0.97549|0.97549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|429;461;461	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	E|A	113|461;416;429;8	.|ENSP00000313007:P461A;ENSP00000429594:P416A;ENSP00000429395:P429A;ENSP00000428840:P8A	.|.	D|P	-|-	3|1	2|0	PABPC1|PABPC1	101788357|101788357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.122000|9.122000	0.94380|0.94380	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	GAC|CCA		PASS	0.418	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		12	95	12	95	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110495260	110495260	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:110495260T>C	ENST00000378402.5	+	57	9606	c.9502T>C	c.(9502-9504)Tat>Cat	p.Y3168H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3168	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y3170H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATTCAATATATAAAACTAA	0.408										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9502-9504)TAT>CAT		fibrocystin L precursor							136.0	131.0	133.0					8																	110495260		1839	4090	5929	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110495260T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9502T>C	8.37:g.110495260T>C	ENSP00000367655:p.Tyr3168His	HNSCC(38;0.096)					p.Y3168H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		57	9606	+			3168			Extracellular (Potential).|G8 2.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9502T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061664	0.76187	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.89050	-2.46;-2.46	5.45	5.45	0.79879	G8 domain (2);	0.000000	0.64402	D	0.000001	D	0.90943	0.7153	M	0.63428	1.95	0.37724	D	0.92501	P	0.38788	0.647	P	0.51918	0.684	D	0.89888	0.4035	10	0.22109	T	0.4	.	13.4535	0.61184	0.0:0.0:0.0:1.0	.	3168	Q86WI1	PKHL1_HUMAN	H	3168;96	ENSP00000367655:Y3168H;ENSP00000437376:Y96H	ENSP00000367655:Y3168H	Y	+	1	0	PKHD1L1	110564436	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.173000	0.71937	2.068000	0.61886	0.477000	0.44152	TAT		PASS	0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	26	18	26	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117862949	117862949	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:117862949G>T	ENST00000297338.2	-	12	1815	c.1528C>A	c.(1528-1530)Cca>Aca	p.P510T	RAD21_ENST00000523986.1_Missense_Mutation_p.P14T|RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_Missense_Mutation_p.P55T	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	510	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P510T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CAGATATTTGGAGGTTCTTCT	0.383																																						uc003yod.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1528-1530)CCA>ACA		RAD21 homolog							129.0	129.0	129.0					8																	117862949		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117862949G>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1528C>A	8.37:g.117862949G>T	ENSP00000297338:p.Pro510Thr						p.P510T	NM_006265	NP_006256	O60216	RAD21_HUMAN			12	1816	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		510			Pro-rich.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1528C>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368321	0.24771	.	.	ENSG00000164754	ENST00000297338;ENST00000523986;ENST00000518055	T;T;T	0.77877	0.66;-1.13;-0.01	5.36	5.36	0.76844	.	0.290766	0.38720	N	0.001582	T	0.58409	0.2120	N	0.04508	-0.205	0.34758	D	0.732494	B	0.02656	0.0	B	0.04013	0.001	T	0.59053	-0.7526	10	0.10111	T	0.7	-10.3274	19.1023	0.93279	0.0:0.0:1.0:0.0	.	510	O60216	RAD21_HUMAN	T	510;14;55	ENSP00000297338:P510T;ENSP00000428513:P14T;ENSP00000428003:P55T	ENSP00000297338:P510T	P	-	1	0	RAD21	117932130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.915000	0.48805	2.481000	0.83766	0.467000	0.42956	CCA		PASS	0.383	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		6	71	6	71	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120831664	120831664	+	Missense_Mutation	SNP	C	C	A	rs374201801		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:120831664C>A	ENST00000378164.2	-	3	519	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	74					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R74L(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GATCCTTACTCGGTATATTCT	0.343																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(220-222)CGA>CTA		TBP-associated factor 2							160.0	165.0	163.0					8																	120831664		2202	4299	6501	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120831664C>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.221G>T	8.37:g.120831664C>A	ENSP00000367406:p.Arg74Leu						p.R74L	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		3	491	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		74					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.221G>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460058	0.96240	.	.	ENSG00000064313	ENST00000378164	T	0.04603	3.59	5.82	5.82	0.92795	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.83603	2.65	0.80722	D	1	D	0.61080	0.989	P	0.62435	0.902	T	0.00225	-1.1901	10	0.66056	D	0.02	-26.3545	20.1185	0.97949	0.0:1.0:0.0:0.0	.	74	Q6P1X5	TAF2_HUMAN	L	74	ENSP00000367406:R74L	ENSP00000367406:R74L	R	-	2	0	TAF2	120900845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.765000	0.95021	0.650000	0.86243	CGA		PASS	0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	100	5	100	---	---	---	---
LRRC6	23639	broad.mit.edu	37	8	133673830	133673830	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:133673830A>G	ENST00000519595.1	-	2	152	c.54T>C	c.(52-54)tgT>tgC	p.C18C	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Silent_p.C18C|LRRC6_ENST00000518642.1_Silent_p.C18C			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	18					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.C18C(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAAAAATGACACAGTCGTTGT	0.363																																						uc003ytk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(52-54)TGT>TGC		leucine rich repeat containing 6							68.0	66.0	67.0					8																	133673830		2203	4300	6503	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133673830A>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.54T>C	8.37:g.133673830A>G						LRRC6_uc003ytl.2_RNA	p.C18C	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	128	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		18					Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.54T>C																																																																																					PASS	0.363	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		13	39	13	39	---	---	---	---
TG	7038	broad.mit.edu	37	8	133900281	133900281	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:133900281G>T	ENST00000220616.4	+	10	2269	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	TG_ENST00000377869.1_Missense_Mutation_p.Q743H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	743	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Q743H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACGGTGCAGGCCCTGCTCT	0.532																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2227-2229)CAG>CAT		thyroglobulin precursor							71.0	56.0	61.0					8																	133900281		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900281G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2229G>T	8.37:g.133900281G>T	ENSP00000220616:p.Gln743His						p.Q743H	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2270	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	743			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2229G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610129	0.14066	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63913	-0.07;-0.07	5.81	0.75	0.18387	Thyroglobulin type-1 (2);	1.582910	0.03399	N	0.203063	T	0.58133	0.2101	L	0.46157	1.445	0.09310	N	1	P	0.51240	0.943	P	0.44447	0.45	T	0.46789	-0.9166	10	0.59425	D	0.04	.	5.3585	0.16075	0.2923:0.0:0.5784:0.1293	.	743	P01266	THYG_HUMAN	H	743	ENSP00000367100:Q743H;ENSP00000220616:Q743H	ENSP00000220616:Q743H	Q	+	3	2	TG	133969463	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.365000	0.20348	-0.147000	0.11254	-0.140000	0.14226	CAG		PASS	0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		9	33	9	33	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142228949	142228949	+	Missense_Mutation	SNP	G	G	A	rs568756982	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:142228949G>A	ENST00000024061.3	-	4	944	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	SLC45A4_ENST00000519067.1_Missense_Mutation_p.R213C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R264C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R206C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R213C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			TCAGCGCTGCGCTCCTGCTGC	0.662													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0					uc003ywd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(637-639)CGC>TGC		solute carrier family 45, member 4							63.0	67.0	66.0					8																	142228949		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228949G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.637C>T	8.37:g.142228949G>A	ENSP00000024061:p.Arg213Cys					SLC45A4_uc003ywc.1_Missense_Mutation_p.R213C|SLC45A4_uc010meq.1_Missense_Mutation_p.R211C	p.R213C	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	945	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		264					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.637C>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171129	0.57584	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;0.58	5.57	5.57	0.84162	.	0.248045	0.45361	D	0.000368	D	0.86468	0.5940	L	0.51422	1.61	0.52099	D	0.999945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.962;0.94	D	0.86880	0.2041	10	0.62326	D	0.03	-29.2382	14.3409	0.66624	0.0:0.0:0.8158:0.1842	.	264;213;213	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	213;264;206;213;71	ENSP00000429059:R213C;ENSP00000428137:R264C;ENSP00000400799:R206C;ENSP00000024061:R213C;ENSP00000429033:R71C	ENSP00000024061:R213C	R	-	1	0	SLC45A4	142298131	0.788000	0.28762	0.980000	0.43619	0.419000	0.31324	2.116000	0.41930	2.629000	0.89072	0.555000	0.69702	CGC		PASS	0.662	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		26	35	26	35	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78794566	78794566	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:78794566A>C	ENST00000545128.1	+	15	2493	c.1955A>C	c.(1954-1956)cAc>cCc	p.H652P	PCSK5_ENST00000376752.4_Missense_Mutation_p.H652P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	652	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.H652P(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACCAGACCACTGCAATGAC	0.478																																						uc004ajz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1954-1956)CAC>CCC		proprotein convertase subtilisin/kexin type 5							107.0	96.0	100.0					9																	78794566		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78794566A>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1955A>C	9.37:g.78794566A>C	ENSP00000446280:p.His652Pro					PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'Flank	p.H652P	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			15	2493	+			652			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1955A>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622785	0.87460	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;D;T	0.85629	0.99;-2.01;0.99	5.61	5.61	0.85477	.	0.128946	0.64402	D	0.000001	D	0.89894	0.6847	M	0.86097	2.795	0.80722	D	1	P	0.43973	0.823	P	0.48952	0.596	D	0.89509	0.3770	10	0.35671	T	0.21	-30.6409	16.1025	0.81194	1.0:0.0:0.0:0.0	.	652	Q92824-2	.	P	652;355;652;325	ENSP00000446280:H652P;ENSP00000365943:H652P;ENSP00000411654:H325P	ENSP00000365943:H652P	H	+	2	0	PCSK5	77984386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.880000	0.92407	2.254000	0.74563	0.533000	0.62120	CAC		PASS	0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	25	5	25	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84609023	84609023	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:84609023G>T	ENST00000344803.2	+	4	3685	c.3638G>T	c.(3637-3639)aGg>aTg	p.R1213M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1213					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1213M(2)									TTGGTCCAGAGGAAGCATAGC	0.403																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3637-3639)AGG>ATG		hypothetical protein LOC389763							115.0	111.0	112.0					9																	84609023		1908	4120	6028	SO:0001583	missense	389763					integral to membrane		g.chr9:84609023G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3638G>T	9.37:g.84609023G>T	ENSP00000341988:p.Arg1213Met						p.R1213M	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3685	+			1213						Missense_Mutation	SNP	ENST00000344803.2	37	c.3638G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856842	0.32791	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	3.15	-2.31	0.06765	.	.	.	.	.	T	0.09423	0.0232	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.61940	0.896	T	0.26643	-1.0097	9	0.87932	D	0	-0.0156	7.5848	0.27987	0.6063:0.0:0.3937:0.0	.	1213	Q6ZQQ2	F75D1_HUMAN	M	1213	ENSP00000341988:R1213M	ENSP00000341988:R1213M	R	+	2	0	FAM75D1	83798843	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.348000	0.07740	-0.520000	0.06435	0.603000	0.83216	AGG		PASS	0.403	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	122	6	122	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102626002	102626002	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:102626002C>A	ENST00000395097.2	+	8	2463	c.1734C>A	c.(1732-1734)ccC>ccA	p.P578P	NR4A3_ENST00000330847.1_Silent_p.P589P	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	578					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.P589P(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTCTGGAGCCCACCGAGTCCA	0.517			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	1	Substitution - coding silent(1)		lung(1)	bone(173)	173						c.(1732-1734)CCC>CCA		nuclear receptor subfamily 4, group A, member 3							81.0	71.0	75.0					9																	102626002		2203	4300	6503	SO:0001819	synonymous_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102626002C>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1734C>A	9.37:g.102626002C>A						NR4A3_uc004bag.1_Silent_p.P578P|NR4A3_uc004bai.2_Silent_p.P589P	p.P578P	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			8	2463	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	578					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.1734C>A	CCDS6743.1																																																																																				PASS	0.517	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			13	19	13	19	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289280	107289280	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:107289280T>A	ENST00000277216.3	-	1	210	c.211A>T	c.(211-213)Atc>Ttc	p.I71F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I71F(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GTATAGCAGATATCCAGGAAA	0.438																																						uc011lvn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(211-213)ATC>TTC		olfactory receptor, family 13, subfamily C,							154.0	127.0	136.0					9																	107289280		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289280T>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.211A>T	9.37:g.107289280T>A	ENSP00000277216:p.Ile71Phe						p.I71F	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	211	-			71			Helical; Name=2; (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.211A>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381003	0.42207	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.01304	5.03	4.44	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	U	0.000226	T	0.06325	0.0163	M	0.74881	2.28	0.31240	N	0.695327	D	0.69078	0.997	D	0.70227	0.968	T	0.01401	-1.1364	10	0.87932	D	0	.	8.5636	0.33525	0.0:0.0955:0.0:0.9045	.	71	Q8NGS5	O13C4_HUMAN	F	71;100	ENSP00000277216:I71F	ENSP00000277216:I71F	I	-	1	0	OR13C4	106329101	0.003000	0.15002	1.000000	0.80357	0.433000	0.31745	-0.026000	0.12392	0.785000	0.33685	0.477000	0.44152	ATC		PASS	0.438	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			11	71	11	71	---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130854346	130854346	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:130854346G>T	ENST00000373066.5	+	1	604	c.197G>T	c.(196-198)gGa>gTa	p.G66V	SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.G66V|RP11-379C10.4_ENST00000453870.1_RNA	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	113	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.G66V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CTGGTGGTTGGACCTGCAGAG	0.542																																						uc004btd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GGA>GTA		solute carrier family 25, member 25 isoform c							84.0	87.0	86.0					9																	130854346		1903	4130	6033	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854346G>T	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.197G>T	9.37:g.130854346G>T	ENSP00000362157:p.Gly66Val					SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Missense_Mutation_p.G66V	p.G66V	NM_001006642	NP_001006643	Q6KCM7	SCMC2_HUMAN			1	219	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373066.5	37	c.197G>T	CCDS59146.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875490	0.51695	.	.	ENSG00000148339	ENST00000432073;ENST00000373066	T;D	0.81739	0.54;-1.53	5.93	5.93	0.95920	.	.	.	.	.	T	0.70718	0.3256	.	.	.	0.80722	D	1	B;B	0.20988	0.05;0.05	B;B	0.18561	0.022;0.022	T	0.64487	-0.6396	8	0.15952	T	0.53	.	17.4997	0.87727	0.0:0.0:1.0:0.0	.	66;66	Q6KCM7-5;Q6KCM7-4	.;.	V	66	ENSP00000410053:G66V;ENSP00000362157:G66V	ENSP00000362157:G66V	G	+	2	0	SLC25A25	129894167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.069000	0.71209	2.815000	0.96918	0.561000	0.74099	GGA		PASS	0.542	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		35	20	35	20	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131374420	131374420	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:131374420G>A	ENST00000372731.4	+	38	5033	c.4923G>A	c.(4921-4923)caG>caA	p.Q1641Q	SPTAN1_ENST00000372739.3_Silent_p.Q1646Q|SPTAN1_ENST00000358161.5_Silent_p.Q1646Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1641					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1641Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCAGTGGCAGTTCTTGGTGC	0.493																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(4)|pancreas(1)	10						c.(4921-4923)CAG>CAA		spectrin, alpha, non-erythrocytic 1							101.0	104.0	103.0					9																	131374420		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131374420G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4923G>A	9.37:g.131374420G>A						SPTAN1_uc004bvm.3_Silent_p.Q1646Q|SPTAN1_uc004bvn.3_Silent_p.Q1621Q	p.Q1641Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			38	5036	+			1641			Spectrin 17.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.4923G>A	CCDS6905.1																																																																																				PASS	0.493	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		16	60	16	60	---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135554019	135554019	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:135554019G>T	ENST00000372146.4	+	2	1577	c.1013G>T	c.(1012-1014)gGa>gTa	p.G338V	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	338					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.G338V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGTGCTTTTGGACCCATAAAA	0.413																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1012-1014)GGA>GTA		general transcription factor IIIC 4							146.0	142.0	143.0					9																	135554019		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554019G>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1013G>T	9.37:g.135554019G>T	ENSP00000361219:p.Gly338Val					GTF3C4_uc010mzw.2_RNA	p.G338V	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1271	+			338					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1013G>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784382	0.70222	.	.	ENSG00000125484	ENST00000372146	T	0.72505	-0.66	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79725	-0.1683	10	0.87932	D	0	-21.7578	18.3736	0.90428	0.0:0.0:1.0:0.0	.	338	Q9UKN8	TF3C4_HUMAN	V	338	ENSP00000361219:G338V	ENSP00000361219:G338V	G	+	2	0	GTF3C4	134543840	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.182000	0.94881	2.756000	0.94617	0.561000	0.74099	GGA		PASS	0.413	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			5	67	5	67	---	---	---	---
RXRA	6256	broad.mit.edu	37	9	137328331	137328331	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:137328331C>T	ENST00000481739.1	+	10	1312	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	RXRA_ENST00000540193.1_Silent_p.L323L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	420	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.L420L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	AGCTCTTGCTCCGCCTGCCGG	0.612																																						uc004cfb.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1258-1260)CTC>CTT		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						109.0	98.0	102.0					9																	137328331		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328331C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1260C>T	9.37:g.137328331C>T						RXRA_uc004cfc.1_Silent_p.L323L	p.L420L	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1422	+			420			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.1260C>T	CCDS35172.1																																																																																				PASS	0.612	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		38	14	38	14	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138710429	138710429	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:138710429C>A	ENST00000389532.4	-	13	4057	c.3993G>T	c.(3991-3993)gaG>gaT	p.E1331D	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E1053D|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E1342D	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1331					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.E1331D(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTCTCCTCCTCCTTCCGCA	0.647																																						uc004cgr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3991-3993)GAG>GAT		calmodulin regulated spectrin-associated protein							57.0	51.0	53.0					9																	138710429		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710429C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3993G>T	9.37:g.138710429C>A	ENSP00000374183:p.Glu1331Asp					CAMSAP1_uc004cgq.3_Missense_Mutation_p.E1221D|CAMSAP1_uc010nbg.2_Missense_Mutation_p.E1053D	p.E1331D	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	13	3993	-			1331					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3993G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653337	0.47362	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.19806	2.12;2.12;2.12	5.16	2.31	0.28768	.	0.049322	0.85682	D	0.000000	T	0.17408	0.0418	L	0.33189	0.99	0.50467	D	0.999871	B;B	0.31519	0.183;0.327	B;B	0.39840	0.04;0.311	T	0.06661	-1.0814	10	0.87932	D	0	.	5.0094	0.14304	0.0:0.523:0.1508:0.3262	.	1331;1342	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	D	1331;1053;1342	ENSP00000374183:E1331D;ENSP00000312463:E1053D;ENSP00000386420:E1342D	ENSP00000312463:E1053D	E	-	3	2	CAMSAP1	137850250	0.346000	0.24844	0.999000	0.59377	0.976000	0.68499	-0.281000	0.08456	0.565000	0.29255	0.655000	0.94253	GAG		PASS	0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	23	4	23	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	373117	373117	+	Splice_Site	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:373117C>A	ENST00000280886.6	-	31	3841		c.e31-1			NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)							nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.?(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCTCGCGCCTGGAGATGAT	0.567																																						uc001ifp.2																			1	Unknown(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.e31-1		DIP2 disco-interacting protein 2 homolog C							48.0	43.0	45.0					10																	373117		2203	4300	6503	SO:0001630	splice_region_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:373117C>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3754-1G>T	10.37:g.373117C>A							p.A1252_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	31	3844	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)						B4DPI5|Q5SS78	Splice_Site	SNP	ENST00000280886.6	37	c.3754_splice	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493820	0.44352	.	.	ENSG00000151240	ENST00000280886;ENST00000535541;ENST00000434695;ENST00000381503	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6699	0.95907	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIP2C	363117	1.000000	0.71417	0.995000	0.50966	0.099000	0.18886	7.818000	0.86416	2.639000	0.89480	0.585000	0.79938	.		PASS	0.567	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	Intron	20	8	20	8	---	---	---	---
STAM	8027	broad.mit.edu	37	10	17746497	17746497	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:17746497C>A	ENST00000377524.3	+	10	1195	c.980C>A	c.(979-981)cCa>cAa	p.P327Q	STAM_ENST00000540523.1_Missense_Mutation_p.P216Q	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	327					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.P327Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCAGACCTACCAGAGCTGCTT	0.373																																						uc001ipj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(979-981)CCA>CAA		signal transducing adaptor molecule 1							134.0	132.0	133.0					10																	17746497		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17746497C>A	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.980C>A	10.37:g.17746497C>A	ENSP00000366746:p.Pro327Gln					STAM_uc009xjw.1_Missense_Mutation_p.Q25K	p.P327Q	NM_003473	NP_003464	Q92783	STAM1_HUMAN			10	1196	+			327					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.980C>A	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	6.347	0.432099	0.12045	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39787	1.5;1.06	5.91	5.91	0.95273	.	0.269819	0.43919	D	0.000516	T	0.36193	0.0958	N	0.25992	0.78	0.41515	D	0.988369	P	0.49961	0.93	P	0.44732	0.459	T	0.05338	-1.0891	10	0.11485	T	0.65	-16.8579	20.2956	0.98549	0.0:1.0:0.0:0.0	.	327	Q92783	STAM1_HUMAN	Q	327;216	ENSP00000366746:P327Q;ENSP00000438073:P216Q	ENSP00000366746:P327Q	P	+	2	0	STAM	17786503	1.000000	0.71417	0.972000	0.41901	0.793000	0.44817	3.864000	0.56024	2.805000	0.96524	0.460000	0.39030	CCA		PASS	0.373	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		5	57	5	57	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316392	30316392	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:30316392C>T	ENST00000375377.1	-	3	2786	c.2685G>A	c.(2683-2685)agG>agA	p.R895R		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	895					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R895R(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						GCACCCACATCCTCGGCTGTG	0.637																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2683-2685)AGG>AGA		hypothetical protein LOC57608							60.0	65.0	63.0					10																	30316392		2100	4224	6324	SO:0001819	synonymous_variant	57608							g.chr10:30316392C>T	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.2685G>A	10.37:g.30316392C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.R757R|KIAA1462_uc009xle.1_Silent_p.R895R	p.R895R	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2744	-			895					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.2685G>A	CCDS41500.1																																																																																				PASS	0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		10	42	10	42	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34625161	34625161	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:34625161C>T	ENST00000374789.3	-	18	2905	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	PARD3_ENST00000350537.4_Silent_p.E814E|PARD3_ENST00000374773.1_Silent_p.E827E|PARD3_ENST00000374790.3_Silent_p.E800E|PARD3_ENST00000545260.1_Silent_p.E770E|PARD3_ENST00000374776.1_Silent_p.E814E|PARD3_ENST00000340077.5_Silent_p.E857E|PARD3_ENST00000545693.1_Silent_p.E844E|PARD3_ENST00000544292.1_Silent_p.E573E|PARD3_ENST00000374788.3_Silent_p.E857E|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Silent_p.E860E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	860	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				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.E860E(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)				TGAGTTTAGTCTCGTCAGCTA	0.408																																						uc010qej.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2578-2580)GAG>GAA		partitioning-defective protein 3 homolog							254.0	204.0	221.0					10																	34625161		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:34625161C>T	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.2580G>A	10.37:g.34625161C>T						PARD3_uc010qek.1_Silent_p.E857E|PARD3_uc010qel.1_Silent_p.E860E|PARD3_uc010qem.1_Silent_p.E844E|PARD3_uc010qen.1_Silent_p.E814E|PARD3_uc010qeo.1_Silent_p.E814E|PARD3_uc010qep.1_Silent_p.E770E|PARD3_uc010qeq.1_Intron|PARD3_uc001ixo.1_Silent_p.E573E|PARD3_uc001ixp.1_Silent_p.E691E|PARD3_uc001ixq.1_Silent_p.E814E|PARD3_uc001ixr.1_Silent_p.E857E|PARD3_uc001ixt.1_Silent_p.E678E|PARD3_uc001ixu.1_Silent_p.E802E|PARD3_uc001ixs.1_Silent_p.E483E	p.E860E	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			18	2580	-		Breast(68;0.0707)	860			Interacts with PRKCZ (By similarity).		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.2580G>A	CCDS7178.1																																																																																				PASS	0.408	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		13	11	13	11	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089100	43089100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:43089100C>T	ENST00000359467.3	-	5	1412	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	433					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.R433K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGTGTGTGTTCTCTGATGTTT	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)AGA>AAA		zinc finger protein 33B							108.0	107.0	108.0					10																	43089100		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089100C>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1298G>A	10.37:g.43089100C>T	ENSP00000352444:p.Arg433Lys					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R321K|ZNF33B_uc001jad.2_Intron	p.R433K	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1413	-			433			C2H2-type 4.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1298G>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467089	0.43839	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.18338	2.22	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37095	N	0.002258	T	0.25938	0.0632	L	0.28400	0.85	0.23056	N	0.998363	D	0.71674	0.998	D	0.81914	0.995	T	0.02144	-1.1206	10	0.45353	T	0.12	.	11.3682	0.49684	0.0:1.0:0.0:0.0	.	433	Q06732	ZN33B_HUMAN	K	433;399	ENSP00000352444:R433K	ENSP00000352444:R433K	R	-	2	0	ZNF33B	42409106	0.000000	0.05858	1.000000	0.80357	0.890000	0.51754	0.295000	0.19065	1.777000	0.52277	0.416000	0.27883	AGA		PASS	0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		15	54	15	54	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74831843	74831843	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:74831843C>T	ENST00000307116.2	-	4	385	c.269G>A	c.(268-270)cGt>cAt	p.R90H	P4HA1_ENST00000373008.2_Missense_Mutation_p.R90H|P4HA1_ENST00000440381.1_Missense_Mutation_p.R90H|P4HA1_ENST00000412021.2_Missense_Mutation_p.R90H|P4HA1_ENST00000394890.2_Missense_Mutation_p.R90H|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000263556.3_Missense_Mutation_p.R90H			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	90					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R90H(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTATTCAGACGTTTCATTAA	0.408																																					Colon(147;367 2405 2662 52127)	uc010qka.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(268-270)CGT>CAT		prolyl 4-hydroxylase, alpha I subunit isoform 2	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						179.0	172.0	175.0					10																	74831843		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74831843C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.269G>A	10.37:g.74831843C>T	ENSP00000307318:p.Arg90His					P4HA1_uc001jtg.2_Missense_Mutation_p.R90H|P4HA1_uc001jth.2_Missense_Mutation_p.R90H|P4HA1_uc010qkb.1_Missense_Mutation_p.R90H|P4HA1_uc001jti.2_RNA	p.R90H	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN			5	603	-	Prostate(51;0.0198)		90					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.269G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.333788	0.95758	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.66995	-0.19;-0.22;-0.19;-0.19;-0.22;-0.24	5.1	5.1	0.69264	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	D	0.91177	0.4973	10	0.87932	D	0	-3.6011	18.6981	0.91610	0.0:1.0:0.0:0.0	.	90;90;90	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	90	ENSP00000307318:R90H;ENSP00000362099:R90H;ENSP00000411688:R90H;ENSP00000378353:R90H;ENSP00000263556:R90H;ENSP00000414464:R90H	ENSP00000263556:R90H	R	-	2	0	P4HA1	74501849	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.317000	0.79018	2.645000	0.89757	0.491000	0.48974	CGT		PASS	0.408	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		14	61	14	61	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84745267	84745267	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:84745267C>A	ENST00000404547.1	+	10	2069	c.2069C>A	c.(2068-2070)gCc>gAc	p.A690D	NRG3_ENST00000404576.2_Missense_Mutation_p.A470D|NRG3_ENST00000372141.2_Missense_Mutation_p.A666D|NRG3_ENST00000372142.2_Missense_Mutation_p.A469D|NRG3_ENST00000556918.1_Missense_Mutation_p.A496D|NRG3_ENST00000537893.1_Missense_Mutation_p.A316D|NRG3_ENST00000545131.1_Missense_Mutation_p.A316D			P56975	NRG3_HUMAN	neuregulin 3	690					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.A469D(1)|p.A666D(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)		GAAAACACAGCCTTTCTCCCC	0.493																																						uc001kco.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(1996-1998)GCC>GAC		neuregulin 3 isoform 1							81.0	74.0	76.0					10																	84745267		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.chr10:84745267C>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.2069C>A	10.37:g.84745267C>A	ENSP00000384796:p.Ala690Asp					NRG3_uc010qlz.1_Missense_Mutation_p.A665D|NRG3_uc001kcp.2_Missense_Mutation_p.A469D|NRG3_uc001kcq.2_Missense_Mutation_p.A316D|NRG3_uc001kcr.2_Missense_Mutation_p.A340D	p.A666D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	2024	+			690			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1997C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549833	0.65311	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.57752	1.02;0.89;0.91;0.38;0.95;0.5;0.5	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.68421	0.2999	L	0.50333	1.59	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.70204	-0.4936	10	0.87932	D	0	-17.3934	16.9886	0.86347	0.0:1.0:0.0:0.0	.	665;690;469;666	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	D	666;690;665;469;470;496;316;316	ENSP00000361214:A666D;ENSP00000384796:A690D;ENSP00000361215:A469D;ENSP00000385804:A470D;ENSP00000451376:A496D;ENSP00000441201:A316D;ENSP00000440377:A316D	ENSP00000361214:A666D	A	+	2	0	NRG3	84735247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.274000	0.65569	2.615000	0.88500	0.655000	0.94253	GCC		PASS	0.493	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		5	37	5	37	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101503802	101503802	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:101503802C>G	ENST00000370476.5	+	5	541	c.412C>G	c.(412-414)Cgc>Ggc	p.R138G		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	138					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.R138G(1)|p.R138C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGCTATTTGCCGCCCTCTGCC	0.338																																						uc001kqd.3																			2	Substitution - Missense(2)		prostate(1)|lung(1)	breast(1)	1						c.(412-414)CGC>GGC		cutC copper transporter homolog							130.0	123.0	126.0					10																	101503802		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503802C>G	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.412C>G	10.37:g.101503802C>G	ENSP00000359507:p.Arg138Gly					CUTC_uc010qpk.1_Missense_Mutation_p.R138G|CUTC_uc001kqe.3_RNA	p.R138G	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	5	560	+		Colorectal(252;0.234)	138					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.412C>G	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772387	0.31411	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	4.97	4.97	0.65823	Copper homeostasis CutC domain (2);	0.051997	0.85682	D	0.000000	T	0.38612	0.1047	N	0.05177	-0.1	0.80722	D	1	B;B	0.19817	0.039;0.004	B;B	0.18871	0.023;0.006	T	0.17289	-1.0374	9	0.23891	T	0.37	-9.0535	18.7716	0.91894	0.0:1.0:0.0:0.0	.	138;138	B4DYM2;Q9NTM9	.;CUTC_HUMAN	G	138;75	.	ENSP00000359503:R75G	R	+	1	0	CUTC	101493792	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.643000	0.74334	2.727000	0.93392	0.591000	0.81541	CGC		PASS	0.338	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		5	30	5	30	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105372887	105372887	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:105372887C>A	ENST00000369774.4	-	12	1257	c.981G>T	c.(979-981)ctG>ctT	p.L327L	SH3PXD2A_ENST00000427662.2_Silent_p.L189L|SH3PXD2A_ENST00000355946.2_Silent_p.L299L|SH3PXD2A_ENST00000540321.1_Silent_p.L194L|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.L162L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	327					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.L299L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGGGTTGGCAGGTCATCCT	0.557																																						uc001kxj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)CTG>CTT		SH3 multiple domains 1							130.0	133.0	132.0					10																	105372887		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105372887C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.981G>T	10.37:g.105372887C>A						SH3PXD2A_uc010qqr.1_Silent_p.L189L|SH3PXD2A_uc010qqs.1_Silent_p.L134L|SH3PXD2A_uc010qqt.1_Silent_p.L176L|SH3PXD2A_uc009xxn.1_Silent_p.L134L|SH3PXD2A_uc010qqu.1_Silent_p.L242L	p.L299L	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	11	1037	-		Colorectal(252;0.0815)|Breast(234;0.131)	327					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.897G>T		.	.	.	.	.	.	.	.	.	.	C	5.601	0.295620	0.10622	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.46	0.166	0.14999	.	.	.	.	.	T	0.42108	0.1188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	-15.2591	1.6989	0.02868	0.2563:0.2622:0.3282:0.1534	.	.	.	.	S	254	.	.	A	-	1	0	SH3PXD2A	105362877	0.996000	0.38824	0.984000	0.44739	0.758000	0.43043	0.627000	0.24506	0.003000	0.14656	-2.871000	0.00099	GCC		PASS	0.557	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		36	29	36	29	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105807833	105807833	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:105807833G>A	ENST00000353479.5	-	30	2547	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P753S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	753	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P753S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAACCTCTTGGGCCTTGGTGT	0.582																																						uc001kxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2257-2259)CCA>TCA		alpha 1 type XVII collagen							240.0	217.0	225.0					10																	105807833		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105807833G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2257C>T	10.37:g.105807833G>A	ENSP00000340937:p.Pro753Ser						p.P753S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	30	2426	-		Colorectal(252;0.103)|Breast(234;0.122)	753			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2257C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820310	0.50633	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.96587	-4.06;-4.06	5.32	4.41	0.53225	.	0.145914	0.31438	N	0.007643	D	0.94696	0.8289	M	0.80183	2.485	0.80722	D	1	B	0.18461	0.028	B	0.17722	0.019	D	0.90796	0.4690	10	0.09338	T	0.73	-0.297	12.0225	0.53352	0.0865:0.0:0.9135:0.0	.	753	Q9UMD9	COHA1_HUMAN	S	753	ENSP00000340937:P753S;ENSP00000358748:P753S	ENSP00000340937:P753S	P	-	1	0	COL17A1	105797823	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	3.485000	0.53208	1.209000	0.43321	0.555000	0.69702	CCA		PASS	0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		29	117	29	117	---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116595985	116595985	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:116595985C>A	ENST00000369248.4	+	5	837	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L168M	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	168								p.L168M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GGACCCCTACCTGGTTAACTT	0.328																																						uc001lcb.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(502-504)CTG>ATG		hypothetical protein LOC57700 isoform a							182.0	195.0	190.0					10																	116595985		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116595985C>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.502C>A	10.37:g.116595985C>A	ENSP00000358251:p.Leu168Met					FAM160B1_uc001lcc.2_Missense_Mutation_p.L168M	p.L168M	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			5	837	+			168					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.502C>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563773	0.65651	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.56941	0.43;0.43	5.37	-3.09	0.05331	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.68300	-0.5445	10	0.56958	D	0.05	-10.9574	13.6801	0.62479	0.0:0.5554:0.0:0.4446	.	168;168	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	M	168	ENSP00000358251:L168M;ENSP00000358253:L168M	ENSP00000358251:L168M	L	+	1	2	FAM160B1	116585975	0.996000	0.38824	0.979000	0.43373	0.985000	0.73830	0.892000	0.28322	-0.612000	0.05701	-0.237000	0.12165	CTG		PASS	0.328	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		6	124	6	124	---	---	---	---
TNNI2	7136	broad.mit.edu	37	11	1862288	1862288	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:1862288G>T	ENST00000381906.1	+	7	373	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	TNNI2_ENST00000381911.1_Missense_Mutation_p.D102Y|TNNI2_ENST00000252898.7_Missense_Mutation_p.D102Y|TNNI2_ENST00000381905.3_Missense_Mutation_p.D102Y	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	102	Involved in binding TNC and actin.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)	p.D102Y(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGCTATTTGATCTGCGGGG	0.687																																						uc010qxe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GAT>TAT		fast-twitch skeletal muscle troponin I isoform							21.0	24.0	23.0					11																	1862288		2200	4299	6499	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862288G>T	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.304G>T	11.37:g.1862288G>T	ENSP00000371331:p.Asp102Tyr					TNNI2_uc010qxc.1_Missense_Mutation_p.D100Y|TNNI2_uc010qxd.1_Missense_Mutation_p.D100Y	p.D102Y	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	326	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	102			Involved in binding TNC and actin.		A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.304G>T	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.083239	0.36758	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	2.92	1.97	0.26223	.	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.71674	0.991;0.998	P;D	0.70716	0.759;0.97	D	0.97183	0.9852	10	0.87932	D	0	3.6543	11.7298	0.51730	0.0:0.0:0.8212:0.1788	.	102;102	A6NIV8;P48788	.;TNNI2_HUMAN	Y	102	ENSP00000371336:D102Y;ENSP00000371331:D102Y;ENSP00000252898:D102Y;ENSP00000371330:D102Y	ENSP00000252898:D102Y	D	+	1	0	TNNI2	1818864	1.000000	0.71417	0.978000	0.43139	0.128000	0.20619	8.941000	0.92964	0.757000	0.33036	0.313000	0.20887	GAT		PASS	0.687	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		10	4	10	4	---	---	---	---
TNNT3	7140	broad.mit.edu	37	11	1959678	1959678	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:1959678G>C	ENST00000397301.1	+	17	774	c.766G>C	c.(766-768)Gct>Cct	p.A256P	TNNT3_ENST00000381579.3_Missense_Mutation_p.A237P|TNNT3_ENST00000381558.1_Missense_Mutation_p.A237P|TNNT3_ENST00000381561.4_Missense_Mutation_p.A248P|TNNT3_ENST00000360603.3_Missense_Mutation_p.A239P|TNNT3_ENST00000397304.2_Missense_Mutation_p.A226P|TNNT3_ENST00000446240.1_Missense_Mutation_p.A226P|TNNT3_ENST00000381589.3_Missense_Mutation_p.A243P|TNNT3_ENST00000278317.6_Missense_Mutation_p.A245P|TNNT3_ENST00000381548.3_Missense_Mutation_p.A247P|TNNT3_ENST00000381549.3_Missense_Mutation_p.A237P			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	256					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.A245P(1)|p.A243P(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CAGCAAGAAGGCTGGGACCCC	0.662																																						uc001luu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(733-735)GCT>CCT		troponin T3, skeletal, fast isoform 1							49.0	58.0	55.0					11																	1959678		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1959678G>C	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.766G>C	11.37:g.1959678G>C	ENSP00000380468:p.Ala256Pro					TNNT3_uc001luw.3_Missense_Mutation_p.A237P|TNNT3_uc001luo.3_Missense_Mutation_p.A237P|TNNT3_uc001lup.3_Missense_Mutation_p.A243P|TNNT3_uc001luq.3_Missense_Mutation_p.A237P|TNNT3_uc001lur.2_Missense_Mutation_p.A237P|TNNT3_uc010qxf.1_Missense_Mutation_p.A243P|TNNT3_uc010qxg.1_Missense_Mutation_p.A177P	p.A245P	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	16	945	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	256					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.733G>C		.	.	.	.	.	.	.	.	.	.	.	20.3	3.964514	0.74131	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	3.53	3.53	0.40419	.	0.114425	0.37577	N	0.002028	D	0.85474	0.5705	M	0.74881	2.28	0.46521	D	0.999083	B;B;B;B	0.23735	0.09;0.09;0.09;0.09	B;B;B;B	0.28011	0.085;0.085;0.085;0.085	D	0.86340	0.1704	10	0.72032	D	0.01	-9.4311	15.6197	0.76796	0.0:0.0:1.0:0.0	.	245;237;243;237	P45378-2;P45378-7;P45378-6;P45378-4	.;.;.;.	P	245;257;248;247;239;237;243;237;231;248;232;237;256;226;226	ENSP00000278317:A245P;ENSP00000370973:A248P;ENSP00000370960:A247P;ENSP00000353815:A239P;ENSP00000370961:A237P;ENSP00000371001:A243P;ENSP00000370991:A237P;ENSP00000370969:A231P;ENSP00000370975:A248P;ENSP00000344870:A232P;ENSP00000370970:A237P;ENSP00000380468:A256P;ENSP00000380471:A226P;ENSP00000413203:A226P	ENSP00000278317:A245P	A	+	1	0	TNNT3	1916254	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.854000	0.75440	1.983000	0.57843	0.462000	0.41574	GCT		PASS	0.662	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		4	26	4	26	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4388990	4388990	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:4388990G>A	ENST00000408920.2	-	1	626	c.536C>T	c.(535-537)aCc>aTc	p.T179I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	179					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T179I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCACAAAAGGTGTGTGGAAT	0.348																																						uc010qye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)ACC>ATC		olfactory receptor, family 52, subfamily B,							66.0	63.0	64.0					11																	4388990		1830	4082	5912	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388990G>A	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.536C>T	11.37:g.4388990G>A	ENSP00000386160:p.Thr179Ile						p.T179I	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	536	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	179			Extracellular (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.536C>T	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	9.424	1.083716	0.20309	.	.	ENSG00000221996	ENST00000408920	T	0.00137	8.68	5.29	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00412	0.0013	M	0.83953	2.67	0.09310	N	1	D	0.63046	0.992	P	0.62813	0.907	T	0.31308	-0.9948	10	0.87932	D	0	.	9.5649	0.39391	0.0763:0.0:0.7823:0.1414	.	179	Q8NGK2	O52B4_HUMAN	I	179	ENSP00000386160:T179I	ENSP00000386160:T179I	T	-	2	0	OR52B4	4345566	0.000000	0.05858	0.049000	0.19019	0.006000	0.05464	0.209000	0.17435	1.451000	0.47736	0.655000	0.94253	ACC		PASS	0.348	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		43	14	43	14	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898522	6898522	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:6898522T>A	ENST00000379829.2	+	1	667	c.644T>A	c.(643-645)aTc>aAc	p.I215N		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	215					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.I215N(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)		TTCTTGCTGATCCTGGGATCC	0.522																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)ATC>AAC		olfactory receptor, family 10, subfamily A,							180.0	139.0	153.0					11																	6898522		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898522T>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.644T>A	11.37:g.6898522T>A	ENSP00000369157:p.Ile215Asn						p.I215N	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	644	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	215			Helical; Name=5; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.644T>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	19.87	3.908148	0.72868	.	.	ENSG00000170782	ENST00000379829	T	0.00333	8.07	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000336	T	0.01287	0.0042	H	0.96365	3.81	0.42996	D	0.994501	D	0.89917	1.0	D	0.79108	0.992	T	0.32877	-0.9890	10	0.87932	D	0	.	12.248	0.54581	0.0:0.0:0.0:1.0	.	215	Q9H209	O10A4_HUMAN	N	215	ENSP00000369157:I215N	ENSP00000369157:I215N	I	+	2	0	OR10A4	6855098	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	4.097000	0.57741	2.050000	0.60909	0.529000	0.55759	ATC		PASS	0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		34	19	34	19	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14666331	14666331	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:14666331T>C	ENST00000282096.4	+	1	1063	c.710T>C	c.(709-711)cTc>cCc	p.L237P	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.L237P	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	237					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.L237P(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TTCACCAGCCTCGGGTCGCTG	0.692																																						uc001mln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)CTC>CCC		phosphodiesterase 3B							12.0	14.0	13.0					11																	14666331		2196	4289	6485	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14666331T>C	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.710T>C	11.37:g.14666331T>C	ENSP00000282096:p.Leu237Pro					PDE3B_uc001mlm.2_Missense_Mutation_p.L237P|PDE3B_uc010rcr.1_Missense_Mutation_p.L237P|PSMA1_uc001mll.2_5'Flank	p.L237P	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			1	1063	+			237			Helical; (Potential).		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.710T>C	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971251	0.74246	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.79247	-1.08;-1.25	4.73	4.73	0.59995	.	4.361770	0.01214	U	0.007931	D	0.89410	0.6707	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.73811	-0.3865	10	0.87932	D	0	.	13.4018	0.60887	0.0:0.0:0.0:1.0	.	237;237;237	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	P	237	ENSP00000282096:L237P;ENSP00000388644:L237P	ENSP00000282096:L237P	L	+	2	0	PDE3B	14622907	1.000000	0.71417	0.994000	0.49952	0.493000	0.33554	5.386000	0.66238	1.770000	0.52166	0.455000	0.32223	CTC		PASS	0.692	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		7	2	7	2	---	---	---	---
LDHC	3948	broad.mit.edu	37	11	18456380	18456380	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:18456380G>A	ENST00000541669.1	+	5	623	c.512G>A	c.(511-513)cGt>cAt	p.R171H	LDHC_ENST00000546146.1_Missense_Mutation_p.R113H|LDHC_ENST00000544105.1_Missense_Mutation_p.R171H|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.R171H|LDHC_ENST00000280704.4_Missense_Mutation_p.R171H|LDHC_ENST00000536880.1_Missense_Mutation_p.R157H			P07864	LDHC_HUMAN	lactate dehydrogenase C	171					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.R171H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCGTTTCCGTTACCTAATT	0.393																																						uc001mon.3																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)CGT>CAT		L-lactate dehydrogenase C	NADH(DB00157)						175.0	176.0	176.0					11																	18456380		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18456380G>A	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.512G>A	11.37:g.18456380G>A	ENSP00000437783:p.Arg171His					LDHC_uc001mom.3_Missense_Mutation_p.R171H|LDHC_uc009yhp.2_Missense_Mutation_p.R171H|LDHC_uc001moo.3_Missense_Mutation_p.R55H|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Missense_Mutation_p.R55H	p.R171H	NM_017448	NP_059144	P07864	LDHC_HUMAN			5	624	+			171					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.512G>A	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047893	0.93740	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.67	4.67	0.58626	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.83252	0.5214	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;B;D	0.91635	0.999;0.361;0.996	D	0.85965	0.1473	10	0.66056	D	0.02	-16.8565	17.7621	0.88467	0.0:0.0:1.0:0.0	.	171;171;171	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	H	171;171;113;157;171;171	ENSP00000437783:R171H;ENSP00000280704:R171H;ENSP00000443414:R113H;ENSP00000439555:R157H;ENSP00000439060:R171H;ENSP00000443997:R171H	ENSP00000280704:R171H	R	+	2	0	LDHC	18412956	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.739000	0.84976	2.446000	0.82766	0.655000	0.94253	CGT		PASS	0.393	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		42	23	42	23	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30926574	30926574	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:30926574T>C	ENST00000597505.1	-	29	4241	c.4242A>G	c.(4240-4242)atA>atG	p.I1414M	DCDC1_ENST00000406071.2_Missense_Mutation_p.I149M|DCDC1_ENST00000339794.5_Missense_Mutation_p.I493M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	176					intracellular signal transduction (GO:0035556)			p.I101M(1)|p.I493M(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)					TGTATGCAATTATTTTCACTG	0.458																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							184.0	156.0	166.0					11																	30926574		2202	4299	6501	SO:0001583	missense	0							g.chr11:30926574T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4242A>G	11.37:g.30926574T>C	ENSP00000472625:p.Ile1414Met					uc009yjk.1_Missense_Mutation_p.I862M|uc009yjj.1_RNA								9		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1345A>G		.	.	.	.	.	.	.	.	.	.	T	15.06	2.722454	0.48728	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.95412	-3.7;-3.7	5.3	2.89	0.33648	Doublecortin domain (2);	0.185996	0.37715	N	0.001969	D	0.95258	0.8462	M	0.64997	1.995	0.23537	N	0.997468	D	0.57899	0.981	P	0.52758	0.708	D	0.89885	0.4033	10	0.87932	D	0	-12.0944	10.4591	0.44567	0.0:0.0:0.3125:0.6875	.	493	Q6ZRR9	DCDC5_HUMAN	M	149;493	ENSP00000385936:I149M;ENSP00000341700:I493M	ENSP00000341700:I493M	I	-	3	3	DCDC5	30883150	1.000000	0.71417	0.998000	0.56505	0.390000	0.30446	1.685000	0.37659	0.288000	0.22398	-0.321000	0.08615	ATA		PASS	0.458	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		7	45	7	45	---	---	---	---
TSPAN18	90139	broad.mit.edu	37	11	44939553	44939553	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:44939553G>T	ENST00000520358.2	+	6	704	c.289G>T	c.(289-291)Gca>Tca	p.A97S	TSPAN18_ENST00000340160.3_Missense_Mutation_p.A97S			Q96SJ8	TSN18_HUMAN	tetraspanin 18	97						integral component of membrane (GO:0016021)		p.A97S(1)		endometrium(1)|large_intestine(6)|lung(3)	10						CATCTTCCTGGCAGAGCTCTC	0.582																																						uc001mye.3																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GCA>TCA		tetraspanin 18 isoform 2							155.0	123.0	134.0					11																	44939553		2203	4299	6502	SO:0001583	missense	90139					integral to membrane		g.chr11:44939553G>T	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.289G>T	11.37:g.44939553G>T	ENSP00000429993:p.Ala97Ser					TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.A97S	p.A97S	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN			4	450	+			97			Helical; (Potential).		Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	c.289G>T	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.920599|4.920599	0.92249|0.92249	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533786;ENST00000533080;ENST00000520358;ENST00000520999;ENST00000340160|ENST00000518429	D;D;D;D;D|.	0.81659|.	-1.52;-1.52;-1.52;-1.52;-1.52|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.046975|.	0.85682|.	D|.	0.000000|.	T|T	0.74489|0.74489	0.3723|0.3723	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	P;B|.	0.44309|.	0.832;0.037|.	P;B|.	0.47346|.	0.544;0.06|.	T|T	0.73350|0.73350	-0.4010|-0.4010	10|5	0.37606|.	T|.	0.19|.	.|.	18.8352|18.8352	0.92159|0.92159	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;97|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	S|V	97;32;97;107;97|100	ENSP00000433592:A97S;ENSP00000433362:A32S;ENSP00000429993:A97S;ENSP00000427942:A107S;ENSP00000339820:A97S|.	ENSP00000339820:A97S|.	A|G	+|+	1|2	0|0	TSPAN18|TSPAN18	44896129|44896129	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	8.004000|8.004000	0.88535|0.88535	2.449000|2.449000	0.82847|0.82847	0.561000|0.561000	0.74099|0.74099	GCA|GGC		PASS	0.582	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		29	18	29	18	---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47464329	47464329	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:47464329G>T	ENST00000298854.2	-	3	782	c.569C>A	c.(568-570)gCa>gAa	p.A190E	RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000529341.1_Missense_Mutation_p.A190E|RAPSN_ENST00000528356.1_5'Flank|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000352508.3_Missense_Mutation_p.A190E	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	190					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.A190E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GACAAGCTCTGCCGCCTTGCA	0.612																																						uc001nfi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)GCA>GAA		43 kD receptor-associated protein of the synapse							87.0	82.0	84.0					11																	47464329		2201	4298	6499	SO:0001583	missense	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47464329G>T		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.569C>A	11.37:g.47464329G>T	ENSP00000298854:p.Ala190Glu					RAPSN_uc001nfj.1_Missense_Mutation_p.A190E|RAPSN_uc009yls.1_Missense_Mutation_p.A190E	p.A190E	NM_005055	NP_005046	Q13702	RAPSN_HUMAN			3	783	-			190			TPR 4.		Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.569C>A	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141968	0.77775	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000529341	T;T;T	0.76839	-1.05;1.15;1.15	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	L	0.27053	0.805	0.80722	D	1	P;P;P	0.51147	0.467;0.56;0.942	B;B;P	0.54965	0.27;0.341;0.765	T	0.81976	-0.0686	10	0.72032	D	0.01	-14.7841	18.8521	0.92237	0.0:0.0:1.0:0.0	.	190;190;190	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	E	190	ENSP00000298854:A190E;ENSP00000298853:A190E;ENSP00000431732:A190E	ENSP00000298854:A190E	A	-	2	0	RAPSN	47420905	1.000000	0.71417	0.932000	0.37286	0.891000	0.51852	9.420000	0.97426	2.538000	0.85594	0.655000	0.94253	GCA		PASS	0.612	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			4	70	4	70	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136154	55136154	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:55136154C>A	ENST00000314706.3	+	1	795	c.795C>A	c.(793-795)ttC>ttA	p.F265L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F265L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAAAGCTTTCTACACCTGTG	0.428																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(793-795)TTC>TTA		olfactory receptor, family 4, subfamily A,							207.0	185.0	192.0					11																	55136154		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136154C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.795C>A	11.37:g.55136154C>A	ENSP00000325065:p.Phe265Leu						p.F265L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	795	+			265			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.795C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	2.791	-0.251361	0.05867	.	.	ENSG00000181958	ENST00000314706	T	0.00269	8.37	3.65	-5.91	0.02269	GPCR, rhodopsin-like superfamily (1);	0.627630	0.14205	N	0.334421	T	0.00073	0.0002	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43956	-0.9359	10	0.02654	T	1	.	0.9749	0.01423	0.3926:0.1994:0.2416:0.1664	.	265	Q8NGL6	O4A15_HUMAN	L	265	ENSP00000325065:F265L	ENSP00000325065:F265L	F	+	3	2	OR4A15	54892730	0.000000	0.05858	0.002000	0.10522	0.539000	0.34962	-2.922000	0.00693	-1.070000	0.03149	-0.501000	0.04562	TTC		PASS	0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		66	30	66	30	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322087	55322087	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:55322087T>C	ENST00000314644.2	+	1	305	c.305T>C	c.(304-306)cTc>cCc	p.L102P		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L102P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTAACCATTCTCAGCAGCCCT	0.428										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(304-306)CTC>CCC		olfactory receptor, family 4, subfamily C,							168.0	136.0	147.0					11																	55322087		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322087T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.305T>C	11.37:g.55322087T>C	ENSP00000324958:p.Leu102Pro	HNSCC(20;0.049)					p.L102P	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	305	+			48			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.305T>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	6.734	0.504147	0.12822	.	.	ENSG00000181939	ENST00000314644	T	0.01106	5.33	5.12	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01627	0.0052	M	0.78916	2.43	0.09310	N	1	B	0.31435	0.323	B	0.33392	0.163	T	0.42799	-0.9430	9	0.34782	T	0.22	.	0.5049	0.00585	0.2206:0.1671:0.2928:0.3195	.	48	Q8NGM1	OR4CF_HUMAN	P	102	ENSP00000324958:L102P	ENSP00000324958:L102P	L	+	2	0	OR4C15	55078663	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.631000	0.02026	-0.122000	0.11766	-0.904000	0.02843	CTC		PASS	0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		59	32	59	32	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944825	55944825	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:55944825C>A	ENST00000312298.1	+	1	732	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGCCTCTCACCTGACTGCTG	0.443																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(730-732)CAC>CAA		olfactory receptor, family 5, subfamily J,							137.0	124.0	128.0					11																	55944825		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944825C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.732C>A	11.37:g.55944825C>A	ENSP00000310788:p.His244Gln						p.H244Q	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	732	+	Esophageal squamous(21;0.00693)		244			Helical; Name=6; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.732C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748356	0.30955	.	.	ENSG00000174957	ENST00000312298	T	0.00307	8.17	4.26	-2.54	0.06307	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.00754	0.0025	H	0.94222	3.51	0.42346	D	0.992355	D	0.76494	0.999	D	0.77004	0.989	T	0.54105	-0.8343	10	0.87932	D	0	.	10.6288	0.45523	0.0:0.4548:0.0:0.5452	.	244	Q8NH18	OR5J2_HUMAN	Q	244	ENSP00000310788:H244Q	ENSP00000310788:H244Q	H	+	3	2	OR5J2	55701401	0.019000	0.18553	0.160000	0.22671	0.242000	0.25591	-0.676000	0.05221	-0.451000	0.07097	-0.214000	0.12660	CAC		PASS	0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		53	19	53	19	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043229	56043229	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:56043229C>A	ENST00000313033.2	+	1	201	c.115C>A	c.(115-117)Cta>Ata	p.L39I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L39I(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCAAGTCTTCCTATTTTTATT	0.333																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(115-117)CTA>ATA		olfactory receptor, family 5, subfamily T,							65.0	71.0	69.0					11																	56043229		2201	4295	6496	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043229C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.115C>A	11.37:g.56043229C>A	ENSP00000323612:p.Leu39Ile						p.L39I	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	115	+	Esophageal squamous(21;0.00448)		39			Helical; Name=1; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.115C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031423	0.35797	.	.	ENSG00000181698	ENST00000313033	T	0.16457	2.34	3.59	-1.9	0.07665	.	0.000000	0.36303	N	0.002666	T	0.21427	0.0516	M	0.73430	2.235	0.09310	N	1	B	0.32338	0.365	B	0.39562	0.303	T	0.23332	-1.0191	10	0.72032	D	0.01	.	8.7272	0.34476	0.0:0.4432:0.0:0.5568	.	39	Q8NG75	OR5T1_HUMAN	I	39	ENSP00000323612:L39I	ENSP00000323612:L39I	L	+	1	2	OR5T1	55799805	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.564000	0.05936	-0.525000	0.06391	0.465000	0.42564	CTA		PASS	0.333	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		5	61	5	61	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128066	56128067	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:56128066_56128067TG>GT	ENST00000303039.3	+	1	376_377	c.344_345TG>GT	c.(343-345)cTG>cGT	p.L115R		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115R(2)|p.L115L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTAATCATGCTGGCTTTGATGG	0.47																																						uc010rjh.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(343-345)CTG>CGG|c.(343-345)CTG>CTT		olfactory receptor, family 8, subfamily J,																																				SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128066T>G|g.chr11:56128067G>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	Exception_encountered	11.37:g.56128066_56128067delinsGT	ENSP00000304060:p.Leu115Arg						p.L115R|p.L115L	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	344|345	+	Esophageal squamous(21;0.00448)		115			Helical; Name=3; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation|Silent	SNP	ENST00000303039.3	37	c.344T>G|c.345G>T	CCDS31529.1																																																																																				PASS	0.470	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		50|47	31|34	47	31	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58893299	58893299	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:58893299A>G	ENST00000343597.3	+	4	1920	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	FAM111B_ENST00000411426.1_Missense_Mutation_p.I547V|FAM111B_ENST00000529618.1_Missense_Mutation_p.I547V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	577							catalytic activity (GO:0003824)	p.I577V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GATTTATTTAATTGGTCATCC	0.363																																						uc001nnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1729-1731)ATT>GTT		hypothetical protein LOC374393 isoform a							102.0	95.0	97.0					11																	58893299		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893299A>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1729A>G	11.37:g.58893299A>G	ENSP00000341565:p.Ile577Val					FAM111B_uc001nnm.2_Missense_Mutation_p.I547V|FAM111B_uc010rko.1_Missense_Mutation_p.I547V	p.I577V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1972	+			577					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1729A>G	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354167	0.61293	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.48836	0.8;0.8;0.8	4.45	4.45	0.53987	Peptidase cysteine/serine, trypsin-like (1);	0.084430	0.45126	D	0.000391	T	0.54935	0.1889	L	0.38531	1.155	0.24650	N	0.993523	D	0.60575	0.988	D	0.66979	0.948	T	0.46386	-0.9195	10	0.49607	T	0.09	.	11.6251	0.51139	1.0:0.0:0.0:0.0	.	577	Q6SJ93	F111B_HUMAN	V	547;547;577	ENSP00000393855:I547V;ENSP00000432875:I547V;ENSP00000341565:I577V	ENSP00000341565:I577V	I	+	1	0	FAM111B	58649875	0.946000	0.32159	0.942000	0.38095	0.095000	0.18619	2.014000	0.40951	2.018000	0.59344	0.528000	0.53228	ATT		PASS	0.363	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		9	42	9	42	---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62520528	62520528	+	Silent	SNP	G	G	A	rs148738930		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:62520528G>A	ENST00000394807.3	-	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	253	Pro-rich.				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.D253D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GATGTGGTGCGTCAACCTCCA	0.552																																						uc001nuz.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(757-759)GAC>GAT		zinc finger and BTB domain containing 3		G		1,4403	2.1+/-5.4	0,1,2201	99.0	87.0	91.0		759	-1.5	0.5	11	dbSNP_134	91	0,8598		0,0,4299	no	coding-synonymous	ZBTB3	NM_024784.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		253/575	62520528	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520528G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.759C>T	11.37:g.62520528G>A							p.D253D	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	881	-			253			Pro-rich.			Silent	SNP	ENST00000394807.3	37	c.759C>T	CCDS8034.1																																																																																				PASS	0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		5	21	5	21	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64126861	64126861	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:64126861G>T	ENST00000334205.4	+	2	132	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.G23W|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.G23W	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	23					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.G23W(2)		breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CAACCTGACCGGGCACGAGGA	0.711																																						uc001oae.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|breast(1)	5						c.(67-69)GGG>TGG		ribosomal protein S6 kinase, 90kDa, polypeptide							60.0	59.0	59.0					11																	64126861		2200	4297	6497	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64126861G>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.67G>T	11.37:g.64126861G>T	ENSP00000333896:p.Gly23Trp					RPS6KA4_uc001oad.2_Missense_Mutation_p.G23W|RPS6KA4_uc010rnl.1_5'UTR|RPS6KA4_uc001oaf.2_Missense_Mutation_p.G23W|RPS6KA4_uc009ypp.2_Missense_Mutation_p.G23W	p.G23W	NM_003942	NP_003933	O75676	KS6A4_HUMAN			2	150	+			23					A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.67G>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389421	0.82902	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.69306	-0.39;-0.34;-0.36;-0.31	3.63	3.63	0.41609	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000002	T	0.72946	0.3524	L	0.36672	1.1	0.46849	D	0.999222	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.972;0.999;0.998;0.999	T	0.76099	-0.3083	10	0.72032	D	0.01	.	13.145	0.59456	0.0:0.0:1.0:0.0	.	23;23;23;23	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	W	23;23;23;7	ENSP00000435580:G23W;ENSP00000333896:G23W;ENSP00000294261:G23W;ENSP00000432945:G7W	ENSP00000294261:G23W	G	+	1	0	RPS6KA4	63883437	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.768000	0.85345	2.028000	0.59812	0.455000	0.32223	GGG		PASS	0.711	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		3	4	3	4	---	---	---	---
MUS81	80198	broad.mit.edu	37	11	65632525	65632525	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:65632525G>T	ENST00000308110.4	+	13	1659	c.1310G>T	c.(1309-1311)gGg>gTg	p.G437V	MUS81_ENST00000533035.1_Missense_Mutation_p.G362V|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	437					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G437V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAACCCCTGGGAACCCTGAA	0.602								Homologous recombination																														uc001ofv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)GGG>GTG	Homologous_recombination	MUS81 endonuclease homolog							105.0	118.0	114.0					11																	65632525		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65632525G>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1310G>T	11.37:g.65632525G>T	ENSP00000307853:p.Gly437Val					MUS81_uc001ofw.3_Intron|MUS81_uc001ofx.3_5'UTR	p.G437V	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	13	1663	+			437					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1310G>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.44|13.44	2.238708|2.238708	0.39598|0.39598	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.14022|.	2.54;2.76|.	5.1|5.1	4.19|4.19	0.49359|0.49359	.|.	0.099066|.	0.64402|.	D|.	0.000001|.	T|T	0.61825|0.61825	0.2378|0.2378	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P|.	0.44776|.	0.843|.	P|.	0.45449|.	0.481|.	T|T	0.60362|0.60362	-0.7278|-0.7278	10|5	0.25751|.	T|.	0.34|.	-21.6454|-21.6454	10.2535|10.2535	0.43383|0.43383	0.0941:0.0:0.9059:0.0|0.0941:0.0:0.9059:0.0	.|.	437|.	Q96NY9|.	MUS81_HUMAN|.	V|C	362;437;437|362	ENSP00000432287:G362V;ENSP00000307853:G437V|.	ENSP00000307853:G437V|.	G|W	+|+	2|3	0|0	MUS81|MUS81	65389101|65389101	0.998000|0.998000	0.40836|0.40836	0.775000|0.775000	0.31657|0.31657	0.494000|0.494000	0.33585|0.33585	1.179000|1.179000	0.31993|0.31993	1.480000|1.480000	0.48289|0.48289	0.561000|0.561000	0.74099|0.74099	GGG|TGG		PASS	0.602	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		6	151	6	151	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73768589	73768589	+	Splice_Site	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:73768589C>A	ENST00000334126.7	-	25	5178	c.4952G>T	c.(4951-4953)gGg>gTg	p.G1651V	C2CD3_ENST00000313663.7_Splice_Site_p.G1651V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1651	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.G1651V(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAAGGGGCTCCCTGAAATAGA	0.458																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(4951-4953)GGG>GTG		C2 calcium-dependent domain containing 3							87.0	88.0	87.0					11																	73768589		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73768589C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4952-1G>T	11.37:g.73768589C>A						C2CD3_uc001out.2_RNA	p.G1651V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			25	5179	-	Breast(11;4.16e-06)		1651			C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4952G>T		.	.	.	.	.	.	.	.	.	.	C	18.41	3.618491	0.66787	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.44881	0.91;0.91;0.91	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.62723	1.935	0.80722	D	1	B	0.26258	0.145	B	0.29176	0.099	T	0.40270	-0.9572	10	0.39692	T	0.17	.	18.3221	0.90242	0.0:1.0:0.0:0.0	.	1651	Q4AC94-1	.	V	1651;1651;1632;459	ENSP00000334379:G1651V;ENSP00000323339:G1651V;ENSP00000388750:G459V	ENSP00000323339:G1651V	G	-	2	0	C2CD3	73446237	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.389000	0.73199	2.505000	0.84491	0.650000	0.86243	GGG		PASS	0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Missense_Mutation	6	60	6	60	---	---	---	---
SRSF8	10929	broad.mit.edu	37	11	94800939	94800939	+	RNA	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:94800939C>A	ENST00000529911.1	+	0	579					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CAGGGAATCTCGCTACGGCGG	0.567																																						uc001pff.2																			0					0						c.(550-552)CGC>AGC		splicing factor, arginine/serine-rich 2B							68.0	73.0	71.0					11																	94800939		2057	4191	6248			10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94800939C>A	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94800939C>A						SFRS2B_uc001pfg.1_5'Flank	p.R184S	NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN			2	885	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	184			Arg-rich.		B2R6B8|Q6PF01|Q96TA3	Missense_Mutation	SNP	ENST00000529911.1	37	c.550C>A																																																																																					PASS	0.567	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		5	61	5	61	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117321399	117321399	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:117321399C>T	ENST00000321322.6	-	20	3755	c.3754G>A	c.(3754-3756)Ggt>Agt	p.G1252S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G982S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1192	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G1252S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGGGGGACCTGGAACTGAG	0.567																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3754-3756)GGT>AGT		Down syndrome cell adhesion molecule like 1							40.0	36.0	38.0					11																	117321399		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117321399C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3754G>A	11.37:g.117321399C>T	ENSP00000315465:p.Gly1252Ser						p.G1252S	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	20	3756	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1192			Extracellular (Potential).|Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3754G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460702	0.84317	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.52295	0.67;0.67	4.42	4.42	0.53409	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68586	0.3017	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67082	-0.5760	9	0.35671	T	0.21	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	1192	Q8TD84	DSCL1_HUMAN	S	982;1252;959	ENSP00000434335:G982S;ENSP00000315465:G1252S	ENSP00000315465:G1252S	G	-	1	0	DSCAML1	116826609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.755000	0.68750	2.741000	0.93983	0.585000	0.79938	GGT		PASS	0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		4	22	4	22	---	---	---	---
OR10S1	219873	broad.mit.edu	37	11	123848350	123848350	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:123848350G>A	ENST00000531945.1	-	1	138	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P17S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCTGGTTGGGGTTCTCCGTT	0.478																																						uc001pzm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)CCC>TCC		olfactory receptor, family 10, subfamily S,							82.0	83.0	83.0					11																	123848350		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848350G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.49C>T	11.37:g.123848350G>A	ENSP00000431914:p.Pro17Ser						p.P17S	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	49	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	17			Extracellular (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.49C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	2.534	-0.307950	0.05458	.	.	ENSG00000196248	ENST00000531945	T	0.00241	8.46	4.75	-0.674	0.11369	.	1.137800	0.06852	N	0.797515	T	0.00073	0.0002	N	0.02129	-0.67	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07347	-1.0777	10	0.11485	T	0.65	-7.7192	1.3022	0.02081	0.3385:0.1385:0.3813:0.1417	.	17	Q8NGN2	O10S1_HUMAN	S	17	ENSP00000431914:P17S	ENSP00000431914:P17S	P	-	1	0	OR10S1	123353560	.	.	0.096000	0.21009	0.125000	0.20455	.	.	-0.019000	0.14055	0.644000	0.83932	CCC		PASS	0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		42	18	42	18	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893737	123893737	+	Silent	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:123893737C>G	ENST00000375024.1	+	1	18	c.18C>G	c.(16-18)ctC>ctG	p.L6L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L6L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGACCAGCCTCGTGACAGCGT	0.532																																						uc010sad.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(16-18)CTC>CTG		olfactory receptor, family 10, subfamily G,							154.0	147.0	150.0					11																	123893737		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893737C>G	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.18C>G	11.37:g.123893737C>G							p.L6L	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	18	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	6			Extracellular (Potential).			Silent	SNP	ENST00000375024.1	37	c.18C>G	CCDS31703.1																																																																																				PASS	0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		61	38	61	38	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189744	124189744	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:124189744G>T	ENST00000357438.2	-	1	440	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A117D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATATTCCATGGCTGTCAGAAG	0.403																																						uc010sah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(349-351)GCC>GAC		olfactory receptor, family 8, subfamily D,							82.0	78.0	79.0					11																	124189744		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189744G>T	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.350C>A	11.37:g.124189744G>T	ENSP00000350022:p.Ala117Asp						p.A117D	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	350	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117			Helical; Name=3; (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.350C>A	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	9.880	1.201236	0.22121	.	.	ENSG00000197263	ENST00000357438	T	0.03152	4.03	3.73	-0.332	0.12675	GPCR, rhodopsin-like superfamily (1);	0.140010	0.32416	N	0.006128	T	0.09730	0.0239	M	0.92169	3.28	0.20307	N	0.999912	P	0.43477	0.808	P	0.45037	0.467	T	0.07947	-1.0746	10	0.87932	D	0	.	5.1079	0.14794	0.4086:0.149:0.4423:0.0	.	117	Q9GZM6	OR8D2_HUMAN	D	117	ENSP00000350022:A117D	ENSP00000350022:A117D	A	-	2	0	OR8D2	123694954	0.000000	0.05858	0.066000	0.19879	0.189000	0.23516	-0.009000	0.12765	-0.030000	0.13804	-0.386000	0.06593	GCC		PASS	0.403	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		9	45	9	45	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128628020	128628020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:128628020C>A	ENST00000527786.2	+	2	518	c.29C>A	c.(28-30)tCg>tAg	p.S10*	FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000534087.2_5'UTR|FLI1_ENST00000344954.6_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	10					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S10*(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAGGCTCTGTCGGTGGTGAGC	0.612			T	EWSR1	Ewing sarcoma																																	uc010sbu.1				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Nonsense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(28-30)TCG>TAG		Friend leukemia virus integration 1							31.0	35.0	34.0					11																	128628020		2167	4276	6443	SO:0001587	stop_gained	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128628020C>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.29C>A	11.37:g.128628020C>A	ENSP00000433488:p.Ser10*					FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_5'UTR|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_5'UTR	p.S10*	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	370	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	10					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Nonsense_Mutation	SNP	ENST00000527786.2	37	c.29C>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	38	6.903949	0.97924	.	.	ENSG00000151702	ENST00000429175	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1886	0.93654	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000399985:S10X	S	+	2	0	FLI1	128133230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.520000	0.84964	0.561000	0.74099	TCG		PASS	0.612	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		8	2	8	2	---	---	---	---
SNX19	399979	broad.mit.edu	37	11	130781571	130781571	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr11:130781571C>A	ENST00000265909.4	-	2	2339	c.1770G>T	c.(1768-1770)caG>caT	p.Q590H	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.Q590H|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.Q33H	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	590	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.Q590H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCAGACGGGTCTGCAGATTCA	0.552																																						uc001qgk.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1768-1770)CAG>CAT		sorting nexin 19							119.0	113.0	115.0					11																	130781571		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781571C>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1770G>T	11.37:g.130781571C>A	ENSP00000265909:p.Gln590His					SNX19_uc010sce.1_5'UTR|SNX19_uc010scf.1_Missense_Mutation_p.Q33H|SNX19_uc010scg.1_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.Q590H|SNX19_uc009zcx.1_RNA	p.Q590H	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	2	2318	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	590			PX.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1770G>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066932	0.76301	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.32272	1.46;1.46;1.46	5.53	5.53	0.82687	Phox homologous domain (5);	0.053220	0.85682	D	0.000000	T	0.32466	0.0830	N	0.13352	0.335	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.91635	0.902;0.999;0.999	T	0.08617	-1.0713	10	0.12766	T	0.61	-18.1669	9.9961	0.41900	0.0:0.8508:0.0:0.1492	.	33;590;590	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	H	590;33;590	ENSP00000265909:Q590H;ENSP00000443480:Q33H;ENSP00000435390:Q590H	ENSP00000265909:Q590H	Q	-	3	2	SNX19	130286781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.419000	0.44671	2.607000	0.88179	0.655000	0.94253	CAG		PASS	0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		31	16	31	16	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	988914	988914	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:988914A>G	ENST00000315939.6	+	11	3192	c.2549A>G	c.(2548-2550)cAt>cGt	p.H850R	WNK1_ENST00000340908.4_Missense_Mutation_p.H443R|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.H1348R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	850					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.H850R(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCAACTCCTCATGTGTCTACG	0.537																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			1	Substitution - Missense(1)		lung(1)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2548-2550)CAT>CGT		WNK lysine deficient protein kinase 1							212.0	181.0	192.0					12																	988914		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:988914A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2549A>G	12.37:g.988914A>G	ENSP00000313059:p.His850Arg					WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.H850R	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3056	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		850					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2549A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451626	0.26074	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.46	1.47	0.22746	.	0.316742	0.27092	N	0.020962	T	0.11452	0.0279	L	0.27053	0.805	0.25684	N	0.985762	B	0.29432	0.244	B	0.19946	0.027	T	0.24333	-1.0163	10	0.25106	T	0.35	-3.4883	8.5427	0.33402	0.4862:0.3891:0.0:0.1246	.	850	Q9H4A3	WNK1_HUMAN	R	850;1348;443;120	ENSP00000313059:H850R;ENSP00000433548:H1348R;ENSP00000341292:H443R;ENSP00000439552:H120R	ENSP00000313059:H850R	H	+	2	0	WNK1	859175	1.000000	0.71417	0.789000	0.31954	0.923000	0.55619	1.781000	0.38644	0.328000	0.23435	0.455000	0.32223	CAT		PASS	0.537	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		53	53	53	53	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1005592	1005592	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:1005592C>G	ENST00000315939.6	+	24	6582	c.5939C>G	c.(5938-5940)cCt>cGt	p.P1980R	WNK1_ENST00000340908.4_Missense_Mutation_p.P1573R|WNK1_ENST00000535572.1_Missense_Mutation_p.P1732R|WNK1_ENST00000537687.1_Missense_Mutation_p.P2240R|WNK1_ENST00000530271.2_Missense_Mutation_p.P2478R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1980					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P2240R(1)|p.P1980R(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCATCTCCTCCTTTTATGGAT	0.448																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5938-5940)CCT>CGT		WNK lysine deficient protein kinase 1							137.0	139.0	139.0					12																	1005592		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005592C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5939C>G	12.37:g.1005592C>G	ENSP00000313059:p.Pro1980Arg					WNK1_uc001qip.3_Missense_Mutation_p.P1732R|WNK1_uc001qir.3_Missense_Mutation_p.P1153R	p.P1980R	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6446	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1980					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5939C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045922	0.19748	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.72282	-0.64;-0.62;-0.6;-0.64;0.57	5.39	4.5	0.54988	.	0.206543	0.34777	N	0.003690	T	0.68659	0.3025	L	0.44542	1.39	0.34136	D	0.665841	D;P;P	0.53462	0.96;0.919;0.868	P;P;B	0.53649	0.731;0.663;0.386	T	0.77253	-0.2656	10	0.87932	D	0	-10.4883	5.06	0.14551	0.371:0.5222:0.0:0.1068	.	1733;1732;1980	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	R	1732;1980;2240;1153;2478;1573	ENSP00000441972:P1732R;ENSP00000313059:P1980R;ENSP00000444465:P2240R;ENSP00000433548:P2478R;ENSP00000341292:P1573R	ENSP00000252477:P1153R	P	+	2	0	WNK1	875853	0.993000	0.37304	0.940000	0.37924	0.324000	0.28378	2.794000	0.47853	1.498000	0.48600	-0.169000	0.13324	CCT		PASS	0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		97	79	97	79	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3701428	3701428	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:3701428G>T	ENST00000382622.3	+	9	1401	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Q328H	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	337	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Q337H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACTGGAAGCAGACCGTCTTCT	0.537																																						uc001qmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1009-1011)CAG>CAT		HMT1 hnRNP methyltransferase-like 4							184.0	185.0	185.0					12																	3701428		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701428G>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1011G>T	12.37:g.3701428G>T	ENSP00000372067:p.Gln337His					PRMT8_uc009zed.2_Missense_Mutation_p.Q328H|PRMT8_uc001qmg.2_Missense_Mutation_p.Q151H|PRMT8_uc001qmh.2_RNA	p.Q337H	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1378	+			337					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1011G>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789112	0.70337	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.86769	-2.17;-2.17	5.24	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94171	0.7423	10	0.87932	D	0	.	8.8129	0.34978	0.1818:0.0:0.8182:0.0	.	328;337	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	H	328;337	ENSP00000414507:Q328H;ENSP00000372067:Q337H	ENSP00000372067:Q337H	Q	+	3	2	PRMT8	3571689	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.353000	0.44089	1.204000	0.43247	0.561000	0.74099	CAG		PASS	0.537	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		88	81	88	81	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5744332	5744332	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:5744332C>A	ENST00000356134.5	-	18	1876	c.1805G>T	c.(1804-1806)tGg>tTg	p.W602L	ANO2_ENST00000538154.1_5'Flank|ANO2_ENST00000546188.1_Missense_Mutation_p.W602L|ANO2_ENST00000327087.8_Missense_Mutation_p.W601L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	606					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.W602L(1)|p.W601L(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTTGGTGAGCCACTTGGCCAC	0.498																																						uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1801-1803)TGG>TTG		anoctamin 2							88.0	88.0	88.0					12																	5744332		2110	4224	6334	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5744332C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1805G>T	12.37:g.5744332C>A	ENSP00000348453:p.Trp602Leu						p.W601L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			17	1874	-			606			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1802G>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.823613	0.90873	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.2	5.2	0.72013	.	0.055170	0.85682	N	0.000000	T	0.64204	0.2577	L	0.52759	1.655	0.80722	D	1	P	0.40534	0.72	P	0.46718	0.525	T	0.56854	-0.7910	10	0.15499	T	0.54	.	18.084	0.89452	0.0:1.0:0.0:0.0	.	601	Q9NQ90-3	.	L	601;602;602;606;161	ENSP00000314048:W601L;ENSP00000348453:W602L;ENSP00000440981:W602L;ENSP00000443813:W161L	ENSP00000314048:W601L	W	-	2	0	ANO2	5614593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.474000	0.81024	2.749000	0.94314	0.539000	0.68188	TGG		PASS	0.498	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	23	4	23	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:13717533C>T	ENST00000609686.1	-	13	2848	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R880P(1)|p.R880H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACAGACTGGCGCTCCTCGAT	0.537																																						uc001rbt.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2638-2640)CGC>CAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						110.0	99.0	103.0					12																	13717533		2203	4298	6501	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717533C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2639G>A	12.37:g.13717533C>T	ENSP00000477455:p.Arg880His						p.R880H	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	2818	-			880			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2639G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672612	0.47781	.	.	ENSG00000150086	ENST00000279593	T	0.12465	2.68	5.3	4.41	0.53225	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.277359	0.39687	N	0.001290	T	0.22244	0.0536	L	0.29908	0.895	0.52501	D	0.999953	D	0.58970	0.984	P	0.60236	0.871	T	0.01259	-1.1403	10	0.59425	D	0.04	.	13.8298	0.63373	0.0:0.9257:0.0:0.0743	.	880	Q13224	NMDE2_HUMAN	H	880	ENSP00000279593:R880H	ENSP00000279593:R880H	R	-	2	0	GRIN2B	13608800	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	3.986000	0.56937	1.238000	0.43771	0.563000	0.77884	CGC		PASS	0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			12	89	12	89	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768055	13768055	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:13768055G>T	ENST00000609686.1	-	7	1856	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	549					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A549A(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACCTAAGAAGGCAGAAGGTG	0.502																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1645-1647)GCC>GCA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						167.0	136.0	146.0					12																	13768055		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768055G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1647C>A	12.37:g.13768055G>T							p.A549A	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			7	1826	-			549			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1647C>A	CCDS8662.1																																																																																				PASS	0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	101	6	101	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15669838	15669838	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:15669838A>G	ENST00000281171.4	+	9	2057	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	PTPRO_ENST00000543886.1_Missense_Mutation_p.E576G|PTPRO_ENST00000348962.2_Missense_Mutation_p.E576G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	576	Fibronectin type-III 6. {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.E576G(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)				ATGACATCAGAGTGGACCACC	0.448																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(1726-1728)GAG>GGG		receptor-type protein tyrosine phosphatase O							247.0	208.0	221.0					12																	15669838		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669838A>G	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.1727A>G	12.37:g.15669838A>G	ENSP00000281171:p.Glu576Gly					PTPRO_uc001rcw.1_Missense_Mutation_p.E576G|PTPRO_uc001rcu.1_Missense_Mutation_p.E576G	p.E576G	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			9	1901	+		Hepatocellular(102;0.244)	576			Fibronectin type-III 6.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1727A>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753373	0.89753	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04406	3.65;3.63	5.17	5.17	0.71159	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	T	0.12390	0.0301	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.69307	0.935;0.82;0.963	T	0.03706	-1.1011	10	0.59425	D	0.04	.	15.1779	0.72931	1.0:0.0:0.0:0.0	.	576;576;576	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	G	576	ENSP00000281171:E576G;ENSP00000343434:E576G	ENSP00000281171:E576G	E	+	2	0	PTPRO	15561105	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	8.388000	0.90170	2.160000	0.67779	0.519000	0.50382	GAG		PASS	0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			14	84	14	84	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18691185	18691185	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:18691185G>T	ENST00000266497.5	+	23	3334	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.C1099F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.C1140F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1099	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.C1099F(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTGGAACTTTGCTGTCGTGCT	0.383																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3295-3297)TGC>TTC		phosphoinositide-3-kinase, class 2 gamma							84.0	80.0	82.0					12																	18691185		1811	4068	5879	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18691185G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3296G>T	12.37:g.18691185G>T	ENSP00000266497:p.Cys1099Phe					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.C1140F|PIK3C2G_uc010sic.1_Missense_Mutation_p.C918F	p.C1099F	NM_004570	NP_004561	O75747	P3C2G_HUMAN			24	3412	+		Hepatocellular(102;0.194)	1099			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3296G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909656	0.72983	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.83250	-1.7;-1.7;-1.7	4.21	4.21	0.49690	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.150685	0.46145	D	0.000306	D	0.89914	0.6853	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90979	0.4826	10	0.87932	D	0	-11.2516	16.8246	0.85927	0.0:0.0:1.0:0.0	.	1139;1140;1099	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	F	1099;1099;1140	ENSP00000404845:C1099F;ENSP00000266497:C1099F;ENSP00000445381:C1140F	ENSP00000266497:C1099F	C	+	2	0	PIK3C2G	18582452	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.503000	0.97984	2.642000	0.89623	0.591000	0.81541	TGC		PASS	0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		37	31	37	31	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19511295	19511295	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:19511295A>G	ENST00000299275.6	+	21	2780	c.2774A>G	c.(2773-2775)aAt>aGt	p.N925S	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.N983S|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.N914S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.N1091S|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.N983S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.N683S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.N988S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.N907S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.N869S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	925					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.N1086S(1)|p.N925S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAAGGGTTAAATGTTATCGGT	0.398																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2773-2775)AAT>AGT		pleckstrin homology domain containing, family A							97.0	82.0	87.0					12																	19511295		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511295A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2774A>G	12.37:g.19511295A>G	ENSP00000299275:p.Asn925Ser					PLEKHA5_uc010sie.1_Missense_Mutation_p.N1086S|PLEKHA5_uc001rea.2_Missense_Mutation_p.N983S|PLEKHA5_uc009zin.2_Missense_Mutation_p.N683S|PLEKHA5_uc010sif.1_Missense_Mutation_p.N914S|PLEKHA5_uc010sig.1_Missense_Mutation_p.N907S|PLEKHA5_uc010sih.1_Missense_Mutation_p.N880S|PLEKHA5_uc001rec.1_Missense_Mutation_p.N734S|PLEKHA5_uc009zio.2_Missense_Mutation_p.N191S	p.N925S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			21	2860	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		925					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2774A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	6.814	0.519258	0.13005	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.26810	3.13;3.17;3.16;3.13;3.17;2.73;3.17;3.14;3.13;3.13;1.71	5.37	-6.96	0.01622	.	1.853990	0.02124	N	0.055838	T	0.12518	0.0304	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.001;0.0;0.002;0.001;0.001;0.001;0.002	T	0.20371	-1.0277	10	0.26408	T	0.33	-0.4884	8.9225	0.35621	0.2772:0.3069:0.4159:0.0	.	988;907;914;1086;869;1091;925;983	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	S	988;983;869;1087;1091;925;683;983;914;907;880;206	ENSP00000325155:N988S;ENSP00000347560:N983S;ENSP00000352104:N869S;ENSP00000404296:N1091S;ENSP00000299275:N925S;ENSP00000440611:N683S;ENSP00000439673:N983S;ENSP00000400411:N914S;ENSP00000439837:N907S;ENSP00000440371:N880S;ENSP00000443553:N206S	ENSP00000299275:N925S	N	+	2	0	PLEKHA5	19402562	0.000000	0.05858	0.000000	0.03702	0.365000	0.29674	-0.024000	0.12435	-0.905000	0.03871	0.456000	0.33151	AAT		PASS	0.398	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		8	48	8	48	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20766412	20766412	+	Silent	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:20766412C>G	ENST00000359062.3	+	3	1087	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V349V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACATCGCCGTCATGGGCGAGG	0.522																																						uc001reh.1																			1	Substitution - coding silent(1)	p.V349I(1)	lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1045-1047)GTC>GTG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						95.0	86.0	89.0					12																	20766412		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766412C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1047C>G	12.37:g.20766412C>G							p.V349V	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1069	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	349					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1047C>G	CCDS31754.1																																																																																				PASS	0.522	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			9	60	9	60	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20766502	20766502	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:20766502C>G	ENST00000359062.3	+	3	1177	c.1137C>G	c.(1135-1137)aaC>aaG	p.N379K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	379					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.N379K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCGTGAGCAACTTGCTCAGCA	0.552																																						uc001reh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1135-1137)AAC>AAG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						110.0	102.0	104.0					12																	20766502		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766502C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1137C>G	12.37:g.20766502C>G	ENSP00000351957:p.Asn379Lys						p.N379K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1159	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	379					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1137C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943406	0.53079	.	.	ENSG00000172572	ENST00000359062	T	0.54675	0.56	5.87	4.03	0.46877	.	4.257740	0.00166	N	0.000007	T	0.50599	0.1625	L	0.47716	1.5	0.47778	D	0.999513	P	0.39391	0.671	B	0.32393	0.145	T	0.46428	-0.9192	10	0.56958	D	0.05	.	13.5264	0.61597	0.0:0.8675:0.0:0.1325	.	379	Q14432	PDE3A_HUMAN	K	379	ENSP00000351957:N379K	ENSP00000351957:N379K	N	+	3	2	PDE3A	20657769	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.654000	0.24918	1.632000	0.50472	-0.140000	0.14226	AAC		PASS	0.552	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			18	65	18	65	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21011372	21011372	+	Splice_Site	SNP	G	G	T	rs374153422		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:21011372G>T	ENST00000381545.3	+	5	445		c.e5-1		LST3_ENST00000381541.3_Splice_Site|SLCO1B3_ENST00000553473.1_Splice_Site|SLCO1B3_ENST00000545880.1_Splice_Site|SLCO1B3_ENST00000261196.2_Splice_Site|SLCO1B7_ENST00000554957.1_Splice_Site|LST3_ENST00000540229.1_Splice_Site	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTTTTTTCTAGGAAATTTGCT	0.328																																						uc001rek.2																			1	Unknown(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.e4-1		solute carrier organic anion transporter family,							118.0	107.0	111.0					12																	21011372		2201	4297	6498	SO:0001630	splice_region_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21011372G>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.227-1G>T	12.37:g.21011372G>T						SLCO1B3_uc001rel.2_Splice_Site_p.G76_splice|SLCO1B3_uc010sil.1_Splice_Site_p.G76_splice|LST-3TM12_uc010sim.1_Splice_Site_p.G76_splice	p.G76_splice	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			4	353	+	Esophageal squamous(101;0.149)							E7EMT8|Q5JAR4	Splice_Site	SNP	ENST00000381545.3	37	c.227_splice	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583614	0.46006	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4451	0.83925	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B3;SLCO1B7;RP11-545J16.1	20902639	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	9.314000	0.96306	1.926000	0.55796	0.460000	0.39030	.		PASS	0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	Intron	17	10	17	10	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21207483	21207483	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:21207483G>T	ENST00000421593.2	+	10	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	LST3_ENST00000381541.3_Missense_Mutation_p.R532M|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R532M|LST3_ENST00000540229.1_Intron|RP11-125O5.2_ENST00000590779.1_5'Flank	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	485						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R485M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCTTGTACAAGGAAATCTTAC	0.393																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1453-1455)AGG>ATG		liver-specific organic anion transporter 3TM12							106.0	115.0	112.0					12																	21207483		2193	4299	6492	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21207483G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1454G>T	12.37:g.21207483G>T	ENSP00000394168:p.Arg485Met					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.R532M	p.R485M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			10	1454	+			485					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1454G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	5.884	0.347203	0.11126	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.39787	1.06;1.06;1.06	2.95	-5.91	0.02269	.	0.985258	0.08326	N	0.963040	T	0.34745	0.0908	L	0.56769	1.78	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.31869	0.085;0.137	T	0.43426	-0.9392	10	0.59425	D	0.04	.	3.5194	0.07736	0.6254:0.1247:0.1314:0.1184	.	485;532	G3V0H7;F5H094	.;.	M	532;532;485	ENSP00000370952:R532M;ENSP00000452013:R532M;ENSP00000394168:R485M	ENSP00000370952:R532M	R	+	2	0	SLCO1B7;RP11-545J16.1	21098750	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.452000	0.02385	-2.161000	0.00785	-0.351000	0.07748	AGG		PASS	0.393	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		25	15	25	15	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29648370	29648370	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:29648370G>A	ENST00000318184.5	-	4	301	c.302C>T	c.(301-303)aCt>aTt	p.T101I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	101	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.T101I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGAAGTCACAGTTATATTCTT	0.368																																						uc001rix.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(301-303)ACT>ATT		ovochymase 1 precursor							75.0	69.0	71.0					12																	29648370		1824	4085	5909	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29648370G>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.302C>T	12.37:g.29648370G>A	ENSP00000326708:p.Thr101Ile						p.T101I	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			4	302	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		101			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.302C>T		.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455170	0.01071	.	.	ENSG00000187950	ENST00000318184	D	0.89196	-2.48	2.68	-0.248	0.13015	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81842	0.4908	L	0.38953	1.18	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.68292	-0.5447	9	0.54805	T	0.06	.	7.8175	0.29269	0.4552:0.0:0.5448:0.0	.	101	Q7RTY7	OVCH1_HUMAN	I	101	ENSP00000326708:T101I	ENSP00000326708:T101I	T	-	2	0	OVCH1	29539637	0.115000	0.22152	0.083000	0.20561	0.013000	0.08279	0.443000	0.21644	-0.342000	0.08363	-0.797000	0.03246	ACT		PASS	0.368	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		11	37	11	37	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32137484	32137484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:32137484G>T	ENST00000312561.4	+	4	4009	c.3595G>T	c.(3595-3597)Gag>Tag	p.E1199*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1199								p.E1199*(1)									CTCATCTTCAGAGGAAGAGAA	0.418																																						uc001rks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3595-3597)GAG>TAG		hypothetical protein LOC55196							113.0	108.0	110.0					12																	32137484		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32137484G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3595G>T	12.37:g.32137484G>T	ENSP00000310338:p.Glu1199*					C12orf35_uc001rkt.2_5'Flank	p.E1199*	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4009	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1199					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.3595G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	43	9.860351	0.99281	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.21	-6.86	0.01676	.	1.513550	0.03831	N	0.269119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8037	0.57601	0.212:0.1228:0.6652:0.0	.	.	.	.	X	1199	.	.	E	+	1	0	C12orf35	32028751	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.480000	0.06559	-0.936000	0.03723	-0.471000	0.05019	GAG		PASS	0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		15	59	15	59	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40013232	40013232	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:40013232G>T	ENST00000308666.3	-	1	321	c.186C>A	c.(184-186)aaC>aaA	p.N62K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	62	Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.N62K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTATTTCTGTGTTCTCTGCAG	0.448																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(184-186)AAC>AAA		ATP-binding cassette, sub-family D, member 2							147.0	147.0	147.0					12																	40013232		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013232G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.186C>A	12.37:g.40013232G>T	ENSP00000310688:p.Asn62Lys						p.N62K	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	612	-			62			Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.186C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	3.283	-0.146526	0.06627	.	.	ENSG00000173208	ENST00000308666	D	0.94092	-3.35	4.69	1.83	0.25207	.	0.707587	0.14399	N	0.322053	D	0.82545	0.5060	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.68685	-0.5343	9	.	.	.	-17.455	8.4744	0.33005	0.2514:0.0:0.7486:0.0	.	62	Q9UBJ2	ABCD2_HUMAN	K	62	ENSP00000310688:N62K	.	N	-	3	2	ABCD2	38299499	0.023000	0.18921	0.927000	0.36925	0.948000	0.59901	1.952000	0.40343	0.603000	0.29913	-0.137000	0.14449	AAC		PASS	0.448	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		12	54	12	54	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49425673	49425673	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:49425673C>T	ENST00000301067.7	-	39	12814	c.12815G>A	c.(12814-12816)gGc>gAc	p.G4272D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4272	Gln-rich.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G4272D(1)|p.G4002D(1)									CTGGAGGGGGCCTGTCTGTGG	0.687																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(12814-12816)GGC>GAC		myeloid/lymphoid or mixed-lineage leukemia 2							31.0	36.0	35.0					12																	49425673		1911	4113	6024	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425673C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12815G>A	12.37:g.49425673C>T	ENSP00000301067:p.Gly4272Asp	HNSCC(34;0.089)					p.G4272D	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	12815	-			4272			Pro-rich.|Gln-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12815G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965920	0.18659	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	4.93	4.93	0.64822	.	0.000000	0.36932	N	0.002325	T	0.75488	0.3856	N	0.14661	0.345	0.36348	D	0.859911	D	0.71674	0.998	P	0.60682	0.878	T	0.81936	-0.0705	10	0.87932	D	0	.	12.848	0.57842	0.1636:0.8364:0.0:0.0	.	4272	O14686	MLL2_HUMAN	D	4272	ENSP00000301067:G4272D	ENSP00000301067:G4272D	G	-	2	0	MLL2	47711940	0.895000	0.30542	1.000000	0.80357	0.937000	0.57800	0.551000	0.23361	2.678000	0.91216	0.655000	0.94253	GGC		PASS	0.687	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	8	6	8	---	---	---	---
PRPH	5630	broad.mit.edu	37	12	49691473	49691473	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:49691473G>A	ENST00000257860.4	+	7	2730	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.V411I(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTCCGTGCCCGTCCATTCTTT	0.632																																						uc001rtu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)GTC>ATC		peripherin							78.0	82.0	81.0					12																	49691473		2203	4300	6503	SO:0001583	missense	5630						structural molecule activity	g.chr12:49691473G>A		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1231G>A	12.37:g.49691473G>A	ENSP00000257860:p.Val411Ile						p.V411I	NM_006262	NP_006253	P41219	PERI_HUMAN			7	1306	+			411			Tail.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.1231G>A	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.540|8.540	0.872971|0.872971	0.17322|0.17322	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000532332|ENST00000257860	.|D	.|0.83673	.|-1.75	5.33|5.33	0.0835|0.0835	0.14433|0.14433	.|.	.|0.212640	.|0.23604	.|N	.|0.046406	T|T	0.63022|0.63022	0.2476|0.2476	N|N	0.19112|0.19112	0.55|0.55	0.21604|0.21604	N|N	0.999623|0.999623	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.47661|0.47661	-0.9100|-0.9100	5|10	.|0.02654	.|T	.|1	.|.	9.0005|9.0005	0.36079|0.36079	0.5273:0.0:0.4727:0.0|0.5273:0.0:0.4727:0.0	.|.	.|411	.|P41219	.|PERI_HUMAN	H|I	139|411	.|ENSP00000257860:V411I	.|ENSP00000257860:V411I	R|V	+|+	2|1	0|0	PRPH|PRPH	47977740|47977740	0.643000|0.643000	0.27269|0.27269	0.259000|0.259000	0.24435|0.24435	0.339000|0.339000	0.28857|0.28857	0.924000|0.924000	0.28777|0.28777	0.075000|0.075000	0.16796|0.16796	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		PASS	0.632	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		6	45	6	45	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49934881	49934881	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:49934881G>T	ENST00000257981.6	+	2	536	c.276G>T	c.(274-276)gaG>gaT	p.E92D	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	92					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E92D(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAAGGAGTTCAAGGCTG	0.632																																						uc001ruh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GAG>GAT		potassium voltage-gated channel, subfamily H							45.0	43.0	44.0					12																	49934881		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49934881G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.276G>T	12.37:g.49934881G>T	ENSP00000257981:p.Glu92Asp					KCNH3_uc010smj.1_Missense_Mutation_p.E32D	p.E92D	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			2	536	+			92			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.276G>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650332	0.87958	.	.	ENSG00000135519	ENST00000257981	D	0.99671	-6.35	5.05	2.97	0.34412	PAS (1);PAS fold-4 (1);	0.000000	0.46145	D	0.000305	D	0.99399	0.9788	M	0.73217	2.22	0.40969	D	0.984689	P	0.42827	0.791	D	0.65233	0.933	D	0.99246	1.0886	10	0.66056	D	0.02	.	9.7075	0.40225	0.1334:0.0:0.8666:0.0	.	92	Q9ULD8	KCNH3_HUMAN	D	92	ENSP00000257981:E92D	ENSP00000257981:E92D	E	+	3	2	KCNH3	48221148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.409000	0.52657	0.666000	0.31087	0.650000	0.86243	GAG		PASS	0.632	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		12	13	12	13	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64199137	64199137	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:64199137G>C	ENST00000261234.6	+	5	1025	c.867G>C	c.(865-867)ttG>ttC	p.L289F	TMEM5_ENST00000537373.1_Missense_Mutation_p.L29F	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	289						integral component of plasma membrane (GO:0005887)		p.L289F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGAACATTTTGAAAAAAGATG	0.358																																						uc001srq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)TTG>TTC		transmembrane protein 5							112.0	112.0	112.0					12																	64199137		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64199137G>C	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.867G>C	12.37:g.64199137G>C	ENSP00000261234:p.Leu289Phe					TMEM5_uc001srr.1_Missense_Mutation_p.L186F|TMEM5_uc001srs.1_Missense_Mutation_p.L29F	p.L289F	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	5	971	+		Myeloproliferative disorder(1001;0.0255)	289			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.867G>C	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505453	0.44558	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	5.03	5.03	0.67393	.	0.076880	0.53938	D	0.000056	T	0.69178	0.3082	L	0.52905	1.665	0.51767	D	0.999937	D;D	0.89917	0.999;1.0	D;D	0.72075	0.956;0.976	T	0.67558	-0.5640	8	.	.	.	-20.1111	12.8086	0.57628	0.0:0.0:0.8366:0.1633	.	29;289	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	F	289;29	.	.	L	+	3	2	TMEM5	62485404	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.907000	0.48743	2.530000	0.85305	0.655000	0.94253	TTG		PASS	0.358	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		12	59	12	59	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68051114	68051114	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:68051114A>G	ENST00000344096.3	+	3	840	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	DYRK2_ENST00000393555.3_Missense_Mutation_p.M70V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	143					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.M143V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCTAAAGTCCATGGAAGGCAT	0.527																																						uc001str.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(427-429)ATG>GTG		dual-specificity tyrosine-(Y)-phosphorylation							58.0	53.0	55.0					12																	68051114		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051114A>G	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.427A>G	12.37:g.68051114A>G	ENSP00000342105:p.Met143Val					DYRK2_uc001sts.3_Missense_Mutation_p.M70V	p.M143V	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	829	+			143					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.427A>G	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.179039	0.00308	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555;ENST00000319833;ENST00000542503	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.3	0.0539	0.14308	.	0.436137	0.29410	N	0.012224	T	0.17323	0.0416	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19582	-1.0301	9	.	.	.	.	6.8637	0.24082	0.4602:0.4085:0.1313:0.0	.	143	Q92630	DYRK2_HUMAN	V	70;143;70;70;121	ENSP00000440839:M70V;ENSP00000342105:M143V;ENSP00000377186:M70V;ENSP00000324733:M70V;ENSP00000443314:M121V	.	M	+	1	0	DYRK2	66337381	0.036000	0.19791	0.699000	0.30290	0.078000	0.17371	1.051000	0.30417	0.415000	0.25817	0.260000	0.18958	ATG		PASS	0.527	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			8	10	8	10	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93221723	93221723	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:93221723C>A	ENST00000322349.8	-	12	1633	c.1369G>T	c.(1369-1371)Gat>Tat	p.D457Y		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	457	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.D457Y(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGTTGTAAATCAGCCACTTGT	0.403																																						uc001tck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1369-1371)GAT>TAT		early endosome antigen 1, 162kD							183.0	172.0	176.0					12																	93221723		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93221723C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1369G>T	12.37:g.93221723C>A	ENSP00000317955:p.Asp457Tyr						p.D457Y	NM_003566	NP_003557	Q15075	EEA1_HUMAN			12	1634	-			457			Gln/Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1369G>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477362	0.84640	.	.	ENSG00000102189	ENST00000322349	T	0.79033	-1.23	5.63	5.63	0.86233	.	0.118333	0.36703	N	0.002444	T	0.81365	0.4807	L	0.34521	1.04	0.80722	D	1	D	0.57899	0.981	P	0.57371	0.819	T	0.83109	-0.0124	10	0.87932	D	0	.	19.6715	0.95914	0.0:1.0:0.0:0.0	.	457	Q15075	EEA1_HUMAN	Y	457	ENSP00000317955:D457Y	ENSP00000317955:D457Y	D	-	1	0	EEA1	91745854	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.786000	0.85741	2.661000	0.90470	0.585000	0.79938	GAT		PASS	0.403	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		10	72	10	72	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101514370	101514370	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:101514370A>G	ENST00000392977.3	+	26	2853	c.2643A>G	c.(2641-2643)ctA>ctG	p.L881L	ANO4_ENST00000550015.1_Silent_p.L401L|ANO4_ENST00000299222.9_Silent_p.L401L|ANO4_ENST00000392979.3_Silent_p.L846L			Q32M45	ANO4_HUMAN	anoctamin 4	881					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L846L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCATGTCCTAGCTGCTCGAT	0.408										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(2641-2643)CTA>CTG		anoctamin 4							174.0	151.0	159.0					12																	101514370		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101514370A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2643A>G	12.37:g.101514370A>G		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.L846L|ANO4_uc001thx.2_Silent_p.L881L|ANO4_uc001thy.2_Silent_p.L401L	p.L881L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			26	3215	+			881			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.2643A>G																																																																																					PASS	0.408	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		9	13	9	13	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102045125	102045125	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:102045125C>A	ENST00000550270.1	+	14	1405	c.1405C>A	c.(1405-1407)Cta>Ata	p.L469I	MYBPC1_ENST00000360610.2_Missense_Mutation_p.L469I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L450I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L469I|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L482I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L469I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L494I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L494I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L443I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L457I|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L370I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L456I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L469I|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L469I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L455I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	469	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L494I(1)|p.L469I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TAAAAATGGCCTACCTGTTCA	0.453																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(1405-1407)CTA>ATA		myosin binding protein C, slow type isoform 3							146.0	149.0	148.0					12																	102045125		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102045125C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1405C>A	12.37:g.102045125C>A	ENSP00000449702:p.Leu469Ile					MYBPC1_uc001tif.1_Missense_Mutation_p.L482I|MYBPC1_uc001tig.2_Missense_Mutation_p.L494I|MYBPC1_uc010svq.1_Missense_Mutation_p.L456I|MYBPC1_uc001tih.2_Missense_Mutation_p.L494I|MYBPC1_uc001tij.2_Missense_Mutation_p.L469I|MYBPC1_uc010svr.1_Missense_Mutation_p.L469I|MYBPC1_uc010svs.1_Missense_Mutation_p.L469I|MYBPC1_uc010svt.1_Missense_Mutation_p.L457I|MYBPC1_uc010svu.1_Missense_Mutation_p.L450I|MYBPC1_uc001tik.2_Missense_Mutation_p.L443I	p.L469I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			14	1507	+			469			Ig-like C2-type 4.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1405C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058693	0.55325	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.627316	0.13146	N	0.410228	T	0.61602	0.2360	L	0.28192	0.835	0.32608	N	0.525036	B;B;B;B;B;B;B;B;B;B;B	0.22414	0.006;0.069;0.003;0.069;0.033;0.006;0.056;0.069;0.001;0.056;0.056	B;B;B;B;B;B;B;B;B;B;B	0.33799	0.042;0.17;0.026;0.17;0.064;0.042;0.067;0.141;0.015;0.135;0.135	T	0.60089	-0.7331	10	0.19590	T	0.45	.	19.3254	0.94260	0.0:1.0:0.0:0.0	.	450;457;469;469;456;443;469;469;494;494;482	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	I	443;469;469;469;456;455;494;482;469;494;469;450;457;494;370;469	ENSP00000448175:L443I;ENSP00000400908:L469I;ENSP00000388989:L469I;ENSP00000353822:L469I;ENSP00000376665:L456I;ENSP00000447362:L455I;ENSP00000354845:L494I;ENSP00000447660:L482I;ENSP00000447900:L469I;ENSP00000440034:L469I;ENSP00000446128:L450I;ENSP00000442847:L457I;ENSP00000354849:L494I;ENSP00000447116:L370I;ENSP00000449702:L469I	ENSP00000353822:L469I	L	+	1	2	MYBPC1	100569256	0.359000	0.24955	0.993000	0.49108	0.996000	0.88848	2.227000	0.42972	2.562000	0.86427	0.655000	0.94253	CTA		PASS	0.453	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			6	172	6	172	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487333	104487333	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:104487333A>G	ENST00000229330.4	+	10	1558	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	485					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.K485R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGCTAAGGAAAAATGAAGGT	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1453-1455)AAA>AGA		host cell factor C2							61.0	63.0	62.0					12																	104487333		2203	4299	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487333A>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1454A>G	12.37:g.104487333A>G	ENSP00000229330:p.Lys485Arg					HCFC2_uc009zul.2_RNA	p.K485R	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			10	1557	+			485					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1454A>G	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147409	0.37923	.	.	ENSG00000111727	ENST00000229330	T	0.01665	4.7	5.81	3.52	0.40303	Fibronectin, type III (2);	0.628275	0.16886	N	0.195497	T	0.01254	0.0041	N	0.14661	0.345	0.29391	N	0.862589	B	0.06786	0.001	B	0.04013	0.001	T	0.39014	-0.9634	10	0.25751	T	0.34	-5.4434	6.4919	0.22119	0.8178:0.0:0.1822:0.0	.	485	Q9Y5Z7	HCFC2_HUMAN	R	485	ENSP00000229330:K485R	ENSP00000229330:K485R	K	+	2	0	HCFC2	103011463	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	1.731000	0.38135	1.043000	0.40175	0.482000	0.46254	AAA		PASS	0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		7	34	7	34	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110565897	110565897	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:110565897G>A	ENST00000242591.5	+	3	697	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	IFT81_ENST00000361948.4_Missense_Mutation_p.R64Q|IFT81_ENST00000552912.1_Missense_Mutation_p.R64Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	64	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.R64Q(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ACAGCCAAACGAATGTTGAGC	0.343																																						uc001tqi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(190-192)CGA>CAA		intraflagellar transport 81-like isoform 1							125.0	120.0	122.0					12																	110565897		2203	4300	6503	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110565897G>A	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.191G>A	12.37:g.110565897G>A	ENSP00000242591:p.Arg64Gln					IFT81_uc001tqh.2_Missense_Mutation_p.R64Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.R64Q	p.R64Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			3	321	+			64					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.191G>A	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412802	0.96072	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.36699	1.24	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.63323	-0.6663	10	0.87932	D	0	-12.6056	20.422	0.99049	0.0:0.0:1.0:0.0	.	64;64	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	Q	64	ENSP00000355372:R64Q	ENSP00000242591:R64Q	R	+	2	0	IFT81	109050280	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.249000	0.95470	2.832000	0.97577	0.655000	0.94253	CGA		PASS	0.343	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		6	51	6	51	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112673472	112673472	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:112673472C>T	ENST00000430131.2	-	35	5440	c.4295G>A	c.(4294-4296)cGg>cAg	p.R1432Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1708Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1682Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1432					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1432Q(1)|p.R1682Q(1)									CAGCGCCGCCCGGCACAGCTG	0.587																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(4294-4296)CGG>CAG		chromosome 12 open reading frame 51							44.0	46.0	45.0					12																	112673472		1963	4155	6118	SO:0001583	missense	283450							g.chr12:112673472C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4295G>A	12.37:g.112673472C>T	ENSP00000404379:p.Arg1432Gln						p.R1432Q	NM_001109662	NP_001103132					29	4313	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.4295G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.098872	0.97281	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	6.03	6.03	0.97812	.	.	.	.	.	T	0.61565	0.2357	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.64063	-0.6495	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1432	Q9Y4D8	K0614_HUMAN	Q	1682;1432;1708	ENSP00000366783:R1682Q;ENSP00000404379:R1432Q;ENSP00000449784:R1708Q	ENSP00000366783:R1682Q	R	-	2	0	C12orf51	111157855	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.400000	0.79949	2.854000	0.98071	0.655000	0.94253	CGG		PASS	0.587	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	29	16	29	---	---	---	---
OAS2	4939	broad.mit.edu	37	12	113435444	113435444	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:113435444A>G	ENST00000342315.4	+	4	961	c.747A>G	c.(745-747)agA>agG	p.R249R	OAS2_ENST00000392583.2_Silent_p.R249R|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	249	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.R249R(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGGCGTCAGAACCGTACTGG	0.498																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(745-747)AGA>AGG		2'-5'-oligoadenylate synthetase 2 isoform 1							128.0	112.0	117.0					12																	113435444		2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113435444A>G	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.747A>G	12.37:g.113435444A>G						OAS2_uc001tui.1_Silent_p.R249R	p.R249R	NM_016817	NP_058197	P29728	OAS2_HUMAN			4	887	+			249			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.747A>G	CCDS31906.1																																																																																				PASS	0.498	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			8	28	8	28	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184572	130184572	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:130184572G>A	ENST00000422113.2	-	2	1077	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	251					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R251W(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCCTGTCCGGATCCCATTG	0.617																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(751-753)CGG>TGG		transmembrane protein 132D precursor							98.0	86.0	90.0					12																	130184572		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184572G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.751C>T	12.37:g.130184572G>A	ENSP00000408581:p.Arg251Trp						p.R251W	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	251			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.751C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440278	0.43326	.	.	ENSG00000151952	ENST00000422113	T	0.15372	2.43	5.35	3.48	0.39840	.	0.779071	0.11556	N	0.552315	T	0.22475	0.0542	M	0.77103	2.36	0.09310	N	1	B	0.22211	0.066	B	0.14578	0.011	T	0.16424	-1.0403	9	.	.	.	-18.8043	10.4875	0.44731	0.0702:0.0:0.796:0.1338	.	251	Q14C87	T132D_HUMAN	W	251	ENSP00000408581:R251W	.	R	-	1	2	TMEM132D	128750525	0.066000	0.20996	0.001000	0.08648	0.021000	0.10359	1.853000	0.39358	0.589000	0.29677	0.650000	0.86243	CGG		PASS	0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		24	21	24	21	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220500	133220500	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:133220500C>T	ENST00000320574.5	-	33	4256	c.4213G>A	c.(4213-4215)Gac>Aac	p.D1405N	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.D1378N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1405					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.D1405N(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGTACATGTCCTCTGGCACT	0.537								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(4213-4215)GAC>AAC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							219.0	182.0	194.0					12																	133220500		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220500C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4213G>A	12.37:g.133220500C>T	ENSP00000322570:p.Asp1405Asn					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.D209N|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.D1378N	p.D1405N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	33	4257	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1405					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4213G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279309	0.80692	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.20332	2.08;2.08;2.08	5.63	5.63	0.86233	.	0.171581	0.64402	D	0.000006	T	0.23727	0.0574	L	0.47078	1.49	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.01553	-1.1326	10	0.51188	T	0.08	.	18.2918	0.90133	0.0:1.0:0.0:0.0	.	1378;1405	F5H1D6;Q07864	.;DPOE1_HUMAN	N	1405;1416;1378	ENSP00000322570:D1405N;ENSP00000406383:D1416N;ENSP00000445753:D1378N	ENSP00000322570:D1405N	D	-	1	0	POLE	131730573	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.616000	0.83018	2.833000	0.97629	0.650000	0.86243	GAC		PASS	0.537	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		15	55	15	55	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26436473	26436473	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr13:26436473C>T	ENST00000381655.2	+	33	3252	c.3110C>T	c.(3109-3111)aCc>aTc	p.T1037I	ATP8A2_ENST00000255283.8_Missense_Mutation_p.T972I|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	997					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1037I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCATGCTGACCTGGCTGGTG	0.532																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3109-3111)ACC>ATC		ATPase, aminophospholipid transporter-like,							165.0	155.0	159.0					13																	26436473		2023	4179	6202	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26436473C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3110C>T	13.37:g.26436473C>T	ENSP00000371070:p.Thr1037Ile					ATP8A2_uc010tdi.1_Missense_Mutation_p.T972I|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.T587I	p.T1037I	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	33	3252	+		Breast(139;0.0201)|Lung SC(185;0.0225)	997			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.3110C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	4.921	0.171093	0.09391	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.87887	-2.31;-2.31	5.52	0.011	0.14085	.	0.394070	0.26045	N	0.026670	T	0.63710	0.2534	N	0.01493	-0.835	0.25147	N	0.990455	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.54323	-0.8311	10	0.19590	T	0.45	.	9.8335	0.40956	0.0:0.2583:0.0:0.7417	.	972;817;997	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	I	1037;972;817	ENSP00000371070:T1037I;ENSP00000255283:T972I	ENSP00000255283:T972I	T	+	2	0	ATP8A2	25334473	1.000000	0.71417	0.996000	0.52242	0.517000	0.34286	3.665000	0.54532	-0.219000	0.10003	-1.083000	0.02208	ACC		PASS	0.532	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		26	10	26	10	---	---	---	---
SLC7A1	6541	broad.mit.edu	37	13	30091888	30091888	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr13:30091888G>C	ENST00000380752.5	-	10	1718	c.1332C>G	c.(1330-1332)gcC>gcG	p.A444A	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	444					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.A444A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGGAAGTACTGGCCATCTGGT	0.502																																						uc001uso.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1330-1332)GCC>GCG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						102.0	101.0	101.0					13																	30091888		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091888G>C	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1332C>G	13.37:g.30091888G>C							p.A444A	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1719	-		Lung SC(185;0.0257)|Breast(139;0.238)	444			Cytoplasmic (Potential).		Q5JR50	Silent	SNP	ENST00000380752.5	37	c.1332C>G	CCDS9333.1																																																																																				PASS	0.502	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		6	41	6	41	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38143490	38143490	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr13:38143490C>T	ENST00000379747.4	-	21	2495	c.2378G>A	c.(2377-2379)gGt>gAt	p.G793D	POSTN_ENST00000379742.4_Missense_Mutation_p.G736D|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.G766D|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706D|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	793					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G793D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCATCACCACCTTCAATGAA	0.363																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2377-2379)GGT>GAT		periostin, osteoblast specific factor isoform 1							110.0	104.0	106.0					13																	38143490		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38143490C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2378G>A	13.37:g.38143490C>T	ENSP00000369071:p.Gly793Asp					POSTN_uc010tet.1_Missense_Mutation_p.G294D|POSTN_uc001uwp.3_Missense_Mutation_p.G736D|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.G766D|POSTN_uc010tev.1_Missense_Mutation_p.G706D|POSTN_uc010tew.1_Intron	p.G793D	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	21	2496	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	793					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2378G>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221845	0.79464	.	.	ENSG00000133110	ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D	0.95272	-2.87;-3.66;-3.54;-3.55	5.59	5.59	0.84812	.	0.078682	0.51477	D	0.000088	D	0.96315	0.8798	L	0.51422	1.61	0.26813	N	0.968961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;0.998;1.0	D	0.91950	0.5570	10	0.72032	D	0.01	.	17.7603	0.88462	0.0:1.0:0.0:0.0	.	706;766;736;793	F5H628;B1ALD8;Q15063-2;Q15063	.;.;.;POSTN_HUMAN	D	793;766;736;706	ENSP00000369071:G793D;ENSP00000369067:G766D;ENSP00000369066:G736D;ENSP00000437953:G706D	ENSP00000369066:G736D	G	-	2	0	POSTN	37041490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.089000	0.57685	2.612000	0.88384	0.650000	0.86243	GGT		PASS	0.363	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		23	11	23	11	---	---	---	---
NHLRC3	387921	broad.mit.edu	37	13	39612853	39612853	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr13:39612853G>A	ENST00000379600.3	+	1	399	c.77G>A	c.(76-78)gGc>gAc	p.G26D	NHLRC3_ENST00000379599.2_Missense_Mutation_p.G26D|NHLRC3_ENST00000470258.1_Intron|PROSER1_ENST00000350125.3_5'Flank|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	26						extracellular vesicular exosome (GO:0070062)		p.G26D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CGTTTTTGTGGCTCTCCAGTG	0.587																																						uc001uxc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(76-78)GGC>GAC		NHL repeat containing 3 isoform a							263.0	217.0	232.0					13																	39612853		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39612853G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.77G>A	13.37:g.39612853G>A	ENSP00000368920:p.Gly26Asp					C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Missense_Mutation_p.G26D|NHLRC3_uc001uxb.1_Missense_Mutation_p.G26D|NHLRC3_uc001uxd.2_Missense_Mutation_p.G26D|NHLRC3_uc001uxe.2_Intron	p.G26D	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	1	399	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	26					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.77G>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128303	0.37533	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;T	0.63744	1.08;-0.06	5.03	0.378	0.16204	.	0.401054	0.21716	N	0.070190	T	0.42899	0.1223	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.27625	0.077;0.183;0.0;0.0	B;B;B;B	0.25140	0.051;0.058;0.001;0.002	T	0.17319	-1.0373	9	.	.	.	-2.2012	4.444	0.11588	0.3635:0.1678:0.4687:0.0	.	26;26;26;26	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	D	26	ENSP00000368920:G26D;ENSP00000368919:G26D	.	G	+	2	0	NHLRC3	38510853	0.003000	0.15002	0.000000	0.03702	0.287000	0.27160	0.046000	0.14035	-0.155000	0.11098	-0.266000	0.10368	GGC		PASS	0.587	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		14	43	14	43	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249004	20249004	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:20249004G>A	ENST00000315957.4	+	1	604	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D175N(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)		CAATGAGTTAGACAGTTACTT	0.488																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)GAC>AAC		olfactory receptor, family 4, subfamily M,							244.0	242.0	243.0					14																	20249004		2203	4297	6500	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249004G>A		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.523G>A	14.37:g.20249004G>A	ENSP00000319654:p.Asp175Asn						p.D175N	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	523	+	all_cancers(95;0.00108)		175			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.523G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295282	0.60086	.	.	ENSG00000176299	ENST00000315957	T	0.00107	8.72	4.43	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00144	0.0004	L	0.37850	1.14	0.29354	N	0.86515	B	0.17465	0.022	B	0.24974	0.057	T	0.07404	-1.0774	10	0.66056	D	0.02	-2.6119	7.7603	0.28948	0.0:0.1796:0.6347:0.1857	.	175	Q8NGD0	OR4M1_HUMAN	N	175	ENSP00000319654:D175N	ENSP00000319654:D175N	D	+	1	0	OR4M1	19318844	0.147000	0.22687	1.000000	0.80357	0.997000	0.91878	0.635000	0.24629	1.209000	0.43321	0.506000	0.49869	GAC		PASS	0.488	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			8	158	8	158	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20403995	20403995	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:20403995C>T	ENST00000285600.4	+	1	229	c.170C>T	c.(169-171)tCt>tTt	p.S57F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S57F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATTTGAACTCTCCTATGTAC	0.363																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(169-171)TCT>TTT		olfactory receptor, family 4, subfamily K,							297.0	313.0	308.0					14																	20403995		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403995C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.170C>T	14.37:g.20403995C>T	ENSP00000285600:p.Ser57Phe						p.S57F	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	170	+	all_cancers(95;0.00108)		57			Cytoplasmic (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.170C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.357472	0.41801	.	.	ENSG00000155249	ENST00000285600	T	0.00416	7.51	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.115168	0.39759	N	0.001277	T	0.00666	0.0022	M	0.84433	2.695	0.31940	N	0.611009	B	0.31910	0.346	B	0.34301	0.179	T	0.02852	-1.1102	10	0.72032	D	0.01	.	15.3002	0.73945	0.0:1.0:0.0:0.0	.	57	Q8NGD4	OR4K1_HUMAN	F	57	ENSP00000285600:S57F	ENSP00000285600:S57F	S	+	2	0	OR4K1	19473835	0.001000	0.12720	1.000000	0.80357	0.982000	0.71751	1.441000	0.35035	2.465000	0.83290	0.655000	0.94253	TCT		PASS	0.363	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			81	95	81	95	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21831050	21831050	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:21831050T>C	ENST00000216297.2	-	14	1906	c.1568A>G	c.(1567-1569)cAt>cGt	p.H523R		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	523					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H523R(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCCCGAATATGTGGTTCCTT	0.408																																						uc001wao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)CAT>CGT		chromatin-specific transcription elongation							144.0	131.0	135.0					14																	21831050		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831050T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1568A>G	14.37:g.21831050T>C	ENSP00000216297:p.His523Arg						p.H523R	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	14	1907	-	all_cancers(95;0.00115)		523					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1568A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380735	0.61845	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.49	5.49	0.81192	.	0.166110	0.52532	D	0.000064	T	0.44265	0.1285	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.18263	0.021	T	0.30534	-0.9975	9	0.26408	T	0.33	-13.4406	14.573	0.68224	0.0:0.0:0.0:1.0	.	523	Q9Y5B9	SP16H_HUMAN	R	523	.	ENSP00000216297:H523R	H	-	2	0	SUPT16H	20900890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.210000	0.77924	2.096000	0.63516	0.533000	0.62120	CAT		PASS	0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			54	40	54	40	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24618034	24618034	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:24618034C>G	ENST00000324103.6	+	5	900	c.580C>G	c.(580-582)Ccc>Gcc	p.P194A	RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.P43A|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.P43A|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	194	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P194A(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGAATTTGACCCCCTATTGAG	0.473																																						uc001wmn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(580-582)CCC>GCC		ring finger protein 31							236.0	234.0	235.0					14																	24618034		1886	4104	5990	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618034C>G	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.580C>G	14.37:g.24618034C>G	ENSP00000315112:p.Pro194Ala					PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.P43A|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.P9A|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.P194A	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	5	829	+			194			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.580C>G	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826812	0.32329	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.43294	0.99;0.95	4.72	3.74	0.42951	.	0.067490	0.64402	D	0.000012	T	0.28167	0.0695	L	0.43152	1.355	0.25658	N	0.986035	B;P;B	0.37441	0.147;0.595;0.356	B;B;B	0.31946	0.055;0.138;0.117	T	0.13791	-1.0496	10	0.32370	T	0.25	-34.4542	6.9923	0.24761	0.0:0.8744:0.0:0.1256	.	9;194;43	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	A	194;43	ENSP00000315112:P194A;ENSP00000372134:P43A	ENSP00000315112:P194A	P	+	1	0	RNF31	23687874	0.203000	0.23435	0.910000	0.35882	0.744000	0.42396	1.893000	0.39758	2.455000	0.83008	0.561000	0.74099	CCC		PASS	0.473	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		23	132	23	132	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679162	38679162	+	Missense_Mutation	SNP	C	C	A	rs369667792		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:38679162C>A	ENST00000267377.2	+	3	1185	c.568C>A	c.(568-570)Ctg>Atg	p.L190M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	190					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.L190M(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCTCGTCATCCTGCCCATCGT	0.662																																						uc001wul.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|lung(1)	5						c.(568-570)CTG>ATG		somatostatin receptor 1	Octreotide(DB00104)	C	MET/LEU	1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	86.0		568	2.7	1.0	14		86	0,8598		0,0,4299	no	missense	SSTR1	NM_001049.2	15	0,1,6501	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	190/392	38679162	1,13003	2203	4299	6502	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679162C>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.568C>A	14.37:g.38679162C>A	ENSP00000267377:p.Leu190Met					SSTR1_uc010amu.1_Intron	p.L190M	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1185	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		190			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.568C>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575175	0.65878	2.27E-4	0.0	ENSG00000139874	ENST00000267377	T	0.74947	-0.89	4.82	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	D	0.83330	0.5231	M	0.80183	2.485	0.51233	D	0.99991	D	0.57257	0.979	D	0.68192	0.956	T	0.81938	-0.0704	10	0.66056	D	0.02	.	8.0806	0.30741	0.0:0.7694:0.0:0.2306	.	190	P30872	SSR1_HUMAN	M	190	ENSP00000267377:L190M	ENSP00000267377:L190M	L	+	1	2	SSTR1	37748913	0.977000	0.34250	0.992000	0.48379	0.990000	0.78478	1.528000	0.35985	0.440000	0.26502	0.561000	0.74099	CTG		PASS	0.662	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			18	29	18	29	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356638	42356639	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:42356638_42356639TG>CT	ENST00000298119.4	+	3	1999_2000	c.810_811TG>CT	c.(808-813)acTGgc>acCTgc	p.G271C	LRFN5_ENST00000554120.1_Missense_Mutation_p.G271C|LRFN5_ENST00000554171.1_Missense_Mutation_p.G271C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	271	LRRCT.					integral component of membrane (GO:0016021)		p.G271C(2)|p.T270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CACTTTTAACTGGCCGCTACTT	0.47										HNSCC(30;0.082)																												uc001wvm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(808-810)ACT>ACC|c.(811-813)GGC>TGC		leucine rich repeat and fibronectin type III																																				SO:0001583	missense	145581					integral to membrane		g.chr14:42356638T>C|g.chr14:42356639G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	Exception_encountered	14.37:g.42356638_42356639delinsCT	ENSP00000298119:p.Gly271Cys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.T270T|LRFN5_uc010ana.2_Missense_Mutation_p.G271C	p.T270T|p.G271C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2008|2009	+			270|271			Extracellular (Potential).|LRRCT.		B3KU78|Q86XL2	Silent|Missense_Mutation	SNP	ENST00000298119.4	37	c.810T>C|c.811G>T	CCDS9678.1																																																																																				PASS	0.470	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		15|18	90|88	15	88	---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45540921	45540921	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:45540921A>T	ENST00000361577.3	+	18	5031	c.4817A>T	c.(4816-4818)tAc>tTc	p.Y1606F	FAM179B_ENST00000361462.2_Missense_Mutation_p.Y1659F|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1606								p.Y1606F(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTAGACAATTACTTACTTCTA	0.313																																						uc001wvv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(4816-4818)TAC>TTC		hypothetical protein LOC23116							120.0	118.0	119.0					14																	45540921		2202	4300	6502	SO:0001583	missense	23116						binding	g.chr14:45540921A>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4817A>T	14.37:g.45540921A>T	ENSP00000355045:p.Tyr1606Phe					FAM179B_uc001wvw.2_Missense_Mutation_p.Y1659F|FAM179B_uc010anc.2_RNA	p.Y1606F	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			18	5026	+			1606					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4817A>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429548	0.62844	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.64618	-0.11;-0.11	5.17	5.17	0.71159	Armadillo-type fold (1);	0.550002	0.19104	N	0.122628	T	0.62889	0.2465	L	0.44542	1.39	0.80722	D	1	D;D	0.60575	0.988;0.981	P;P	0.53490	0.699;0.727	T	0.56780	-0.7922	10	0.13853	T	0.58	-6.1734	13.5446	0.61695	1.0:0.0:0.0:0.0	.	1659;1606	G3XAE9;Q9Y4F4	.;F179B_HUMAN	F	1606;1659	ENSP00000355045:Y1606F;ENSP00000354917:Y1659F	ENSP00000354917:Y1659F	Y	+	2	0	FAM179B	44610671	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.269000	0.33074	2.090000	0.63153	0.528000	0.53228	TAC		PASS	0.313	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		19	27	19	27	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58817845	58817845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:58817845G>T	ENST00000355431.3	+	16	1832	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	ARID4A_ENST00000348476.3_Nonsense_Mutation_p.E487*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.E487*|ARID4A_ENST00000431317.2_Nonsense_Mutation_p.E487*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	487					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E487*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATTGAAGAAGAGAAAACAGA	0.328																																						uc001xdp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(1459-1461)GAG>TAG		retinoblastoma-binding protein 1 isoform I							51.0	55.0	54.0					14																	58817845		2202	4285	6487	SO:0001587	stop_gained	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58817845G>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1459G>T	14.37:g.58817845G>T	ENSP00000347602:p.Glu487*					ARID4A_uc001xdo.2_Nonsense_Mutation_p.E487*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.E487*|ARID4A_uc010apg.1_Nonsense_Mutation_p.E165*	p.E487*	NM_002892	NP_002883	P29374	ARI4A_HUMAN			16	1713	+			487					Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	c.1459G>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	42	9.512181	0.99192	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	.	.	.	5.83	5.83	0.93111	.	0.326144	0.31312	N	0.007874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-20.8223	19.7075	0.96079	0.0:0.0:1.0:0.0	.	.	.	.	X	487;487;487;487;165	.	ENSP00000344556:E487X	E	+	1	0	ARID4A	57887598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.644000	0.61397	2.749000	0.94314	0.655000	0.94253	GAG		PASS	0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		5	78	5	78	---	---	---	---
DCAF4	26094	broad.mit.edu	37	14	73425438	73425438	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:73425438G>T	ENST00000358377.2	+	14	1633	c.1413G>T	c.(1411-1413)cgG>cgT	p.R471R	DCAF4_ENST00000353777.3_Silent_p.R301R|DCAF4_ENST00000509153.1_Silent_p.R411R|DCAF4_ENST00000555042.1_Silent_p.R465R|DCAF4_ENST00000394234.2_Silent_p.R371R	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	471					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.R471R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCTCGTCGCGGCTGGGGGGCT	0.647																																						uc001xng.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1411-1413)CGG>CGT		DDB1 and CUL4 associated factor 4 isoform 1							46.0	56.0	52.0					14																	73425438		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73425438G>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1413G>T	14.37:g.73425438G>T						DCAF4_uc001xnj.2_Silent_p.R465R|DCAF4_uc010ttr.1_Silent_p.R450R|DCAF4_uc001xnh.2_Silent_p.R371R|DCAF4_uc010tts.1_Silent_p.R411R|DCAF4_uc010ttt.1_Silent_p.R257R|DCAF4_uc001xni.2_Silent_p.R301R	p.R471R	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			14	1633	+			471					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.1413G>T	CCDS9809.1																																																																																				PASS	0.647	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		14	37	14	37	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824319	74824319	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:74824319C>A	ENST00000256362.4	+	2	1074	c.833C>A	c.(832-834)cCt>cAt	p.P278H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	278					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.P278H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AACCGTGAACCTGGCCTCAGC	0.652																																						uc001xpw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(832-834)CCT>CAT		hypothetical protein LOC55237							44.0	42.0	42.0					14																	74824319		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824319C>A	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.833C>A	14.37:g.74824319C>A	ENSP00000256362:p.Pro278His						p.P278H	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1024	+			278					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.833C>A	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282884	0.23392	.	.	ENSG00000133980	ENST00000256362	T	0.54279	0.58	5.2	3.37	0.38596	.	0.446985	0.21157	N	0.079233	T	0.48429	0.1499	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.60345	0.873	T	0.34453	-0.9828	10	0.72032	D	0.01	-4.1228	8.475	0.33007	0.1531:0.7699:0.0:0.0771	.	278	Q9H8Y1	VRTN_HUMAN	H	278	ENSP00000256362:P278H	ENSP00000256362:P278H	P	+	2	0	VRTN	73894072	0.544000	0.26441	0.044000	0.18714	0.143000	0.21401	3.887000	0.56197	0.766000	0.33244	0.561000	0.74099	CCT		PASS	0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		25	17	25	17	---	---	---	---
CIPC	85457	broad.mit.edu	37	14	77580133	77580133	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:77580133G>T	ENST00000361786.2	+	4	989	c.672G>T	c.(670-672)gaG>gaT	p.E224D	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		224					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E224D(1)		endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AACTTGCCGAGGACTCAGCTC	0.602																																						uc001xtd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GAG>GAT		KIAA1737 protein							54.0	47.0	49.0					14																	77580133		2203	4300	6503	SO:0001583	missense	85457							g.chr14:77580133G>T																												ENST00000361786.2:c.672G>T	14.37:g.77580133G>T	ENSP00000355319:p.Glu224Asp					KIAA1737_uc001xtc.1_Missense_Mutation_p.E126D	p.E224D	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	851	+			224					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.672G>T	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469466	0.43839	.	.	ENSG00000198894	ENST00000361786	T	0.32753	1.44	5.23	4.33	0.51752	.	0.244889	0.35013	N	0.003514	T	0.29914	0.0748	L	0.55481	1.735	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.27076	0.076;0.076	T	0.06643	-1.0815	10	0.32370	T	0.25	-19.3759	11.0794	0.48051	0.0854:0.0:0.9146:0.0	.	224;126	Q9C0C6;B3KU75	K1737_HUMAN;.	D	224	ENSP00000355319:E224D	ENSP00000355319:E224D	E	+	3	2	KIAA1737	76649886	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.788000	0.38714	1.341000	0.45600	0.455000	0.32223	GAG		PASS	0.602	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			5	58	5	58	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088550	86088550	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:86088550A>T	ENST00000330753.4	+	2	1459	c.692A>T	c.(691-693)aAg>aTg	p.K231M	FLRT2_ENST00000554746.1_Missense_Mutation_p.K231M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	231					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.K231M(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCACCAAGCTCAAGGAA	0.522																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(691-693)AAG>ATG		fibronectin leucine rich transmembrane protein 2							92.0	92.0	92.0					14																	86088550		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088550A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.692A>T	14.37:g.86088550A>T	ENSP00000332879:p.Lys231Met					FLRT2_uc010atd.2_Missense_Mutation_p.K231M	p.K231M	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1459	+			231			Extracellular (Potential).|LRR 8.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.692A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338507	0.60963	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.59638	0.25;0.25	5.78	4.65	0.58169	.	0.156037	0.56097	D	0.000030	T	0.62060	0.2397	M	0.66439	2.03	0.45464	D	0.99843	P	0.38677	0.642	P	0.45377	0.478	T	0.67225	-0.5724	10	0.87932	D	0	-22.3725	11.2293	0.48903	0.9289:0.0:0.0711:0.0	.	231	O43155	FLRT2_HUMAN	M	231	ENSP00000332879:K231M;ENSP00000451050:K231M	ENSP00000332879:K231M	K	+	2	0	FLRT2	85158303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.249000	0.43169	2.197000	0.70478	0.528000	0.53228	AAG		PASS	0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			16	90	16	90	---	---	---	---
PPP4R4	57718	broad.mit.edu	37	14	94712742	94712742	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:94712742C>A	ENST00000304338.3	+	14	1631	c.1477C>A	c.(1477-1479)Cga>Aga	p.R493R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	493					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.R493R(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCTGAACAGCGAGCTGCAGC	0.403																																						uc001ycs.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(1477-1479)CGA>AGA		HEAT-like repeat-containing protein isoform 1							73.0	74.0	74.0					14																	94712742		2203	4300	6503	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94712742C>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1477C>A	14.37:g.94712742C>A							p.R493R	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			14	1631	+			493					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.1477C>A	CCDS9921.1																																																																																				PASS	0.403	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		15	45	15	45	---	---	---	---
IGHV3-64	28414	broad.mit.edu	37	14	107113932	107113933	+	RNA	DNP	GC	GC	TT	rs541688644		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr14:107113932_107113933GC>TT	ENST00000454421.2	-	0	238_239									immunoglobulin heavy variable 3-64																		CGGACCCAGTGCATAGCATAGC	0.545																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																						8755							g.chr14:107113932G>T|g.chr14:107113933C>T	M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971	Exception_encountered	14.37:g.107113932_107113933delinsTT														84		-									RNA	SNP	ENST00000454421.2	37	c.3941C>A|c.3940G>A																																																																																					PASS	0.545	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324617.1	NG_001019		71|69	179	69	179	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26812801	26812801	+	Silent	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:26812801A>T	ENST00000311550.5	-	7	873	c.762T>A	c.(760-762)tcT>tcA	p.S254S	GABRB3_ENST00000400188.3_Silent_p.S183S|GABRB3_ENST00000541819.2_Silent_p.S310S|GABRB3_ENST00000299267.4_Silent_p.S254S|GABRB3_ENST00000545868.1_Silent_p.S169S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	254					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.S254S(2)|p.S310S(1)		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)	TTATCAGTATAGAGGGCATAT	0.423																																						uc001zaz.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(760-762)TCT>TCA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						134.0	113.0	120.0					15																	26812801		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.chr15:26812801A>T		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.762T>A	15.37:g.26812801A>T						GABRB3_uc010uae.1_Silent_p.S169S|GABRB3_uc001zba.2_Silent_p.S254S|GABRB3_uc001zbb.2_Silent_p.S310S	p.S254S	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	904	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	254			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.762T>A	CCDS10019.1																																																																																				PASS	0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	35	19	35	---	---	---	---
SLC27A2	11001	broad.mit.edu	37	15	50526174	50526174	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:50526174G>T	ENST00000267842.5	+	9	1897	c.1665G>T	c.(1663-1665)agG>agT	p.R555S	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R502S|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R320S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	555					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R555S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTTATGCAAGGCCCCGGTTTC	0.433																																						uc001zxw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1663-1665)AGG>AGT		solute carrier family 27 (fatty acid							133.0	130.0	131.0					15																	50526174		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50526174G>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1665G>T	15.37:g.50526174G>T	ENSP00000267842:p.Arg555Ser					SLC27A2_uc010bes.2_Missense_Mutation_p.R502S|SLC27A2_uc001zxx.2_Missense_Mutation_p.R320S	p.R555S	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	9	1897	+		all_lung(180;0.00177)	555			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1665G>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021136	0.35701	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50813	0.73;0.73;0.73	5.93	0.869	0.19096	.	0.092469	0.64402	D	0.000001	T	0.65037	0.2653	H	0.96080	3.765	0.58432	D	0.999992	P;P	0.51449	0.63;0.945	P;P	0.50570	0.459;0.644	T	0.68930	-0.5279	10	0.33940	T	0.23	.	10.051	0.42216	0.3474:0.0:0.6525:0.0	.	502;555	Q6PF09;O14975	.;S27A2_HUMAN	S	502;555;320	ENSP00000370289:R502S;ENSP00000267842:R555S;ENSP00000444549:R320S	ENSP00000267842:R555S	R	+	3	2	SLC27A2	48313466	0.952000	0.32445	0.977000	0.42913	0.014000	0.08584	0.037000	0.13840	0.140000	0.18849	-0.812000	0.03155	AGG		PASS	0.433	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		39	16	39	16	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55652654	55652654	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:55652654G>T	ENST00000310958.6	-	8	1615	c.1317C>A	c.(1315-1317)acC>acA	p.T439T	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Silent_p.T439T|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.T439T	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	439					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.T439T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCTGTTCGAAGGTTAGCTTCC	0.413																																						uc002acv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1315-1317)ACC>ACA		cell cycle progression 1 isoform 2							229.0	212.0	217.0					15																	55652654		1873	4121	5994	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55652654G>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1317C>A	15.37:g.55652654G>T						CCPG1_uc002acy.2_Silent_p.T439T|CCPG1_uc002acu.1_Silent_p.T295T|CCPG1_uc002acw.1_Silent_p.T164T|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Silent_p.T439T|CCPG1_uc002acz.1_Silent_p.T439T	p.T439T	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1482	-			439			Potential.|Lumenal (Potential).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.1317C>A	CCDS42039.1																																																																																				PASS	0.413	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		7	142	7	142	---	---	---	---
FAM81A	145773	broad.mit.edu	37	15	59752205	59752205	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:59752205C>A	ENST00000288228.5	+	3	281	c.94C>A	c.(94-96)Cag>Aag	p.Q32K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	32								p.Q29K(1)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CCTCGTGGAGCAGCTGGAAGA	0.532																																						uc002agc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)CAG>AAG		hypothetical protein LOC145773							37.0	40.0	39.0					15																	59752205		1979	4173	6152	SO:0001583	missense	145773							g.chr15:59752205C>A		CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.94C>A	15.37:g.59752205C>A	ENSP00000288228:p.Gln32Lys					FAM81A_uc010uha.1_Missense_Mutation_p.Q32K	p.Q32K	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN			3	281	+			32						Missense_Mutation	SNP	ENST00000288228.5	37	c.94C>A	CCDS45269.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982881	0.34942	.	.	ENSG00000157470	ENST00000288228	T	0.28454	1.61	5.57	5.57	0.84162	.	0.094135	0.47093	D	0.000248	T	0.48277	0.1491	L	0.55990	1.75	0.39461	D	0.96756	D;B	0.64830	0.994;0.241	P;B	0.60789	0.879;0.204	T	0.41680	-0.9495	10	0.46703	T	0.11	-25.9428	16.6985	0.85342	0.0:1.0:0.0:0.0	.	29;32	B4DRE4;Q8TBF8	.;FA81A_HUMAN	K	32	ENSP00000288228:Q32K	ENSP00000288228:Q32K	Q	+	1	0	FAM81A	57539497	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.737000	0.55060	2.619000	0.88677	0.561000	0.74099	CAG		PASS	0.532	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415876.1	NM_152450		14	27	14	27	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73624553	73624553	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:73624553G>C	ENST00000261917.3	-	3	2283	c.1290C>G	c.(1288-1290)caC>caG	p.H430Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	430					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.H430Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGCCGTCCCAGTGGCAGAGCA	0.612																																						uc002avp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1288-1290)CAC>CAG		hyperpolarization activated cyclic							108.0	86.0	93.0					15																	73624553		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73624553G>C	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1290C>G	15.37:g.73624553G>C	ENSP00000261917:p.His430Gln						p.H430Q	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	3	2284	-			430			Helical; Name=Segment S5; (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1290C>G	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302232	0.60195	.	.	ENSG00000138622	ENST00000261917	D	0.98550	-4.99	4.63	3.71	0.42584	Ion transport (1);	.	.	.	.	D	0.99045	0.9673	M	0.93720	3.45	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	D	0.99364	1.0918	9	0.87932	D	0	.	10.5645	0.45165	0.1584:0.0:0.8416:0.0	.	430	Q9Y3Q4	HCN4_HUMAN	Q	430	ENSP00000261917:H430Q	ENSP00000261917:H430Q	H	-	3	2	HCN4	71411606	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.413000	0.44618	1.056000	0.40484	0.561000	0.74099	CAC		PASS	0.612	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		3	32	3	32	---	---	---	---
C15orf27	123591	broad.mit.edu	37	15	76449078	76449078	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:76449078A>G	ENST00000388942.3	+	4	637	c.361A>G	c.(361-363)Ata>Gta	p.I121V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	121					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.I121V(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GGAACTTCTAATAGATATAAA	0.433																																						uc002bbq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)ATA>GTA		hypothetical protein LOC123591							114.0	113.0	113.0					15																	76449078		1934	4151	6085	SO:0001583	missense	123591					integral to membrane		g.chr15:76449078A>G	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.361A>G	15.37:g.76449078A>G	ENSP00000373594:p.Ile121Val					C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron	p.I121V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			4	516	+			121			Helical; (Potential).		Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.361A>G	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334261	0.60853	.	.	ENSG00000169758	ENST00000388942	D	0.97328	-4.34	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.65975	2.015	0.48632	D	0.99968	D	0.62365	0.991	D	0.72625	0.978	D	0.98468	1.0599	10	0.56958	D	0.05	-11.7944	14.4473	0.67359	1.0:0.0:0.0:0.0	.	121	Q2M3C6	CO027_HUMAN	V	121	ENSP00000373594:I121V	ENSP00000373594:I121V	I	+	1	0	C15orf27	74236133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.636000	0.91010	2.016000	0.59253	0.533000	0.62120	ATA		PASS	0.433	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		9	34	9	34	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83795599	83795599	+	Splice_Site	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:83795599G>C	ENST00000322019.9	+	8	1075	c.801G>C	c.(799-801)caG>caC	p.Q267H	TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000565774.1_Intron|TM6SF1_ENST00000379386.4_Splice_Site_p.Q270H			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	267						integral component of membrane (GO:0016021)		p.Q267H(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTAAAATTCAGGTCAAGTAGT	0.418																																						uc002bjp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)CAG>CAC		transmembrane 6 superfamily member 1 isoform 1							116.0	123.0	120.0					15																	83795599		2203	4300	6503	SO:0001630	splice_region_variant	53346					integral to membrane		g.chr15:83795599G>C	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.801+1G>C	15.37:g.83795599G>C						TM6SF1_uc010bmq.2_Intron|TM6SF1_uc002bjq.2_Intron|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.Q119H	p.Q267H	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			8	910	+			267			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.801G>C	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988414	0.93106	.	.	ENSG00000136404	ENST00000322019;ENST00000379386	T;T	0.26223	1.75;1.75	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.50320	-0.8842	10	0.87932	D	0	-0.0044	20.5407	0.99260	0.0:0.0:1.0:0.0	.	267	Q9BZW5	TM6S1_HUMAN	H	267;270	ENSP00000317000:Q267H;ENSP00000368696:Q270H	ENSP00000317000:Q267H	Q	+	3	2	TM6SF1	81586603	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.111000	0.89564	2.865000	0.98341	0.655000	0.94253	CAG		PASS	0.418	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	Missense_Mutation	33	104	33	104	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86800204	86800204	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:86800204G>T	ENST00000441037.2	+	7	813	c.718G>T	c.(718-720)Gtc>Ttc	p.V240F	AGBL1_ENST00000421325.2_Missense_Mutation_p.V240F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	240					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.V240F(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGCCTTCCCGGTCCCCGGGTG	0.507																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)GTC>TTC		ATP/GTP binding protein-like 1							74.0	75.0	74.0					15																	86800204		2039	4196	6235	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800204G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.718G>T	15.37:g.86800204G>T	ENSP00000413001:p.Val240Phe						p.V240F	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			7	798	+			240					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.718G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425134	0.25639	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.43294	0.95	5.93	5.93	0.95920	Armadillo-type fold (1);	0.798100	0.10821	N	0.630480	T	0.43033	0.1229	L	0.50333	1.59	0.58432	D	0.999994	P	0.49961	0.93	B	0.42214	0.38	T	0.38286	-0.9668	10	0.59425	D	0.04	-7.3341	13.7019	0.62613	0.0:0.1655:0.8345:0.0	.	240	Q96MI9	CBPC4_HUMAN	F	269;240	ENSP00000397173:V240F	ENSP00000397173:V240F	V	+	1	0	AGBL1	84601208	0.001000	0.12720	0.007000	0.13788	0.148000	0.21650	1.157000	0.31724	2.808000	0.96608	0.655000	0.94253	GTC		PASS	0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		8	56	8	56	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346508	102346508	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr15:102346508G>C	ENST00000328882.4	+	1	607	c.586G>C	c.(586-588)Gga>Cga	p.G196R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G196R(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTACACATTGGGATTCATGGT	0.358																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)GGA>CGA		olfactory receptor, family 4, subfamily F,							164.0	161.0	162.0					15																	102346508		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346508G>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.586G>C	15.37:g.102346508G>C	ENSP00000327525:p.Gly196Arg						p.G196R	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	586	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		196			Helical; Name=5; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.586G>C	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	5.109	0.205761	0.09704	.	.	ENSG00000184140	ENST00000328882	T	0.00063	8.78	4.78	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	1.212770	0.06042	N	0.655061	T	0.00178	0.0005	L	0.31752	0.955	0.09310	N	1	B	0.26635	0.155	B	0.33121	0.158	T	0.53373	-0.8448	10	0.54805	T	0.06	.	12.9385	0.58329	0.0:0.1649:0.8351:0.0	.	196	Q8NGB9	OR4F6_HUMAN	R	196	ENSP00000327525:G196R	ENSP00000327525:G196R	G	+	1	0	OR4F6	100164031	0.000000	0.05858	0.015000	0.15790	0.028000	0.11728	0.250000	0.18235	2.649000	0.89929	0.591000	0.81541	GGA		PASS	0.358	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			38	159	38	159	---	---	---	---
CCNF	899	broad.mit.edu	37	16	2505515	2505515	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:2505515G>T	ENST00000397066.4	+	16	1923	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	612	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.C612F(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGGACTGCTGCTCTGGCTAT	0.642																																						uc002cqd.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|kidney(1)	2						c.(1834-1836)TGC>TTC		cyclin F							63.0	51.0	55.0					16																	2505515		2196	4300	6496	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2505515G>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1835G>T	16.37:g.2505515G>T	ENSP00000380256:p.Cys612Phe					CCNF_uc002cqe.1_Missense_Mutation_p.C304F	p.C612F	NM_001761	NP_001752	P41002	CCNF_HUMAN			16	1923	+		Ovarian(90;0.17)	612			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1835G>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632013	0.46944	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.27402	1.67	5.52	5.52	0.82312	.	0.042459	0.85682	D	0.000000	T	0.52008	0.1708	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.52388	-0.8582	10	0.87932	D	0	-27.9818	18.0141	0.89233	0.0:0.0:1.0:0.0	.	612	P41002	CCNF_HUMAN	F	612;527	ENSP00000380256:C612F	ENSP00000293968:C527F	C	+	2	0	CCNF	2445516	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.331000	0.79192	2.609000	0.88269	0.561000	0.74099	TGC		PASS	0.642	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		3	10	3	10	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3900926	3900926	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:3900926C>A	ENST00000262367.5	-	2	979	c.170G>T	c.(169-171)gGg>gTg	p.G57V	CREBBP_ENST00000382070.3_Missense_Mutation_p.G57V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	57					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.G57V(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)		AACAAGGTTCCCACTGTTTAA	0.428			"""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.(169-171)GGG>GTG		CREB binding protein isoform a							83.0	79.0	81.0					16																	3900926		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.chr16:3900926C>A	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.170G>T	16.37:g.3900926C>A	ENSP00000262367:p.Gly57Val					CREBBP_uc002cvw.2_Missense_Mutation_p.G57V	p.G57V	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	374	-		Ovarian(90;0.0266)	57					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.170G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992827	0.54041	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86366	-1.93;-2.11	5.88	4.9	0.64082	.	0.069547	0.64402	D	0.000013	D	0.91653	0.7362	M	0.70595	2.14	0.80722	D	1	D;P	0.58620	0.983;0.66	P;B	0.58130	0.833;0.347	D	0.92445	0.5965	10	0.66056	D	0.02	-12.2627	16.8195	0.85742	0.0:0.8713:0.1287:0.0	.	125;57	Q4LE28;Q92793	.;CBP_HUMAN	V	57;125;57	ENSP00000262367:G57V;ENSP00000371502:G57V	ENSP00000262367:G57V	G	-	2	0	CREBBP	3840927	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.498000	0.60373	1.426000	0.47256	0.655000	0.94253	GGG		PASS	0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	56	6	56	---	---	---	---
SRL	6345	broad.mit.edu	37	16	4247818	4247818	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:4247818G>C	ENST00000399609.3	-	4	370	c.358C>G	c.(358-360)Cgc>Ggc	p.R120G	SRL_ENST00000537996.1_Missense_Mutation_p.R78G	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	579	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R120G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGCTGATAGCGAGTATTTTCC	0.418																																						uc002cvz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(358-360)CGC>GGC		sarcalumenin							110.0	104.0	106.0					16																	4247818		1869	4100	5969	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4247818G>C	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.358C>G	16.37:g.4247818G>C	ENSP00000382518:p.Arg120Gly					SRL_uc002cvy.3_RNA	p.R120G	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN			4	371	-			579						Missense_Mutation	SNP	ENST00000399609.3	37	c.358C>G	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282776	0.23392	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.29655	1.56;1.57	5.02	5.02	0.67125	.	0.067877	0.64402	U	0.000015	T	0.06690	0.0171	N	0.00017	-2.825	0.35626	D	0.809834	B	0.21381	0.055	B	0.17098	0.017	T	0.33445	-0.9868	10	0.27082	T	0.32	-5.9935	18.7116	0.91659	0.0:0.0:1.0:0.0	.	120	Q86TD4-2	.	G	120;578;78	ENSP00000382518:R120G;ENSP00000440350:R78G	ENSP00000333285:R578G	R	-	1	0	SRL	4187819	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.495000	0.66912	2.487000	0.83934	0.591000	0.81541	CGC		PASS	0.418	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		30	16	30	16	---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12758807	12758807	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:12758807C>A	ENST00000381774.4	-	4	1121	c.881G>T	c.(880-882)aGt>aTt	p.S294I	CPPED1_ENST00000261660.4_Missense_Mutation_p.Q120H|CPPED1_ENST00000433677.2_Missense_Mutation_p.S152I	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	294						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.S294I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTCATCTAGACTGTAGTATCG	0.507																																						uc002dca.3																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)AGT>ATT		calcineurin-like phosphoesterase domain							162.0	159.0	160.0					16																	12758807		1884	4118	6002	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758807C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.881G>T	16.37:g.12758807C>A	ENSP00000371193:p.Ser294Ile					CPPED1_uc002dcb.3_Missense_Mutation_p.S152I|CPPED1_uc002dbz.3_RNA	p.S294I	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	992	-			294					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.881G>T	CCDS42120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.140228|4.140228	0.77775|0.77775	.|.	.|.	ENSG00000103381|ENSG00000103381	ENST00000261660|ENST00000381774;ENST00000433677	T|T;D	0.34472|0.94497	1.36|-0.48;-3.44	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.075534	.|0.85682	.|D	.|0.000000	D|D	0.97084|0.97084	0.9047|0.9047	M|M	0.76838|0.76838	2.35|2.35	0.35830|0.35830	D|D	0.825233|0.825233	.|D;P	.|0.76494	.|0.999;0.935	.|D;P	.|0.83275	.|0.996;0.495	D|D	0.99896|0.99896	1.1148|1.1148	7|10	0.87932|0.54805	D|T	0|0.06	-6.4244|-6.4244	17.0527|17.0527	0.86524|0.86524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|152;294	.|Q9BRF8-2;Q9BRF8	.|.;CPPED_HUMAN	H|I	120|294;152	ENSP00000261660:Q120H|ENSP00000371193:S294I;ENSP00000411127:S152I	ENSP00000261660:Q120H|ENSP00000371193:S294I	Q|S	-|-	3|2	2|0	CPPED1|CPPED1	12666308|12666308	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.562000|0.562000	0.35680|0.35680	5.685000|5.685000	0.68204|0.68204	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	CAG|AGT		PASS	0.507	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		12	51	12	51	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15814079	15814079	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:15814079C>T	ENST00000300036.5	-	34	4991	c.4882G>A	c.(4882-4884)Gac>Aac	p.D1628N	MYH11_ENST00000452625.2_Missense_Mutation_p.D1635N|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.D1628N|MYH11_ENST00000396324.3_Missense_Mutation_p.D1635N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1628					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.D1628N(1)|p.D1635N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCCAGGTCTTTCAGGTCC	0.587			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4882-4884)GAC>AAC		smooth muscle myosin heavy chain 11 isoform							130.0	112.0	118.0					16																	15814079		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814079C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4882G>A	16.37:g.15814079C>T	ENSP00000300036:p.Asp1628Asn					MYH11_uc002ddv.2_Missense_Mutation_p.D1635N|MYH11_uc002ddw.2_Missense_Mutation_p.D1628N|MYH11_uc002ddx.2_Missense_Mutation_p.D1635N|MYH11_uc010bvg.2_Missense_Mutation_p.D1460N|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.D334N|NDE1_uc002ddz.1_5'Flank	p.D1628N	NM_002474	NP_002465	P35749	MYH11_HUMAN			34	4989	-			1628			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4882G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027143	0.93518	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.95	4.95	0.65309	Myosin tail (1);	0.054653	0.64402	D	0.000001	D	0.85673	0.5751	L	0.60012	1.86	0.80722	D	1	D;D;D;D;D	0.56521	0.976;0.976;0.976;0.976;0.976	D;D;D;D;D	0.66979	0.948;0.948;0.948;0.948;0.948	D	0.87356	0.2341	10	0.87932	D	0	.	17.1879	0.86871	0.0:1.0:0.0:0.0	.	1635;1628;1635;1628;1635	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	1628;1628;1635;1635;1635	ENSP00000300036:D1628N;ENSP00000345136:D1628N;ENSP00000379616:D1635N;ENSP00000407821:D1635N	ENSP00000300036:D1628N	D	-	1	0	MYH11	15721580	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	5.945000	0.70226	2.303000	0.77524	0.655000	0.94253	GAC		PASS	0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		6	48	6	48	---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28109925	28109925	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:28109925C>A	ENST00000304658.5	-	24	3812	c.3312G>T	c.(3310-3312)ctG>ctT	p.L1104L	XPO6_ENST00000565698.1_Silent_p.L1090L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1104					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L1104L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GGTCGTTGACCAGCCTGTGCA	0.607																																						uc002dpa.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(3310-3312)CTG>CTT		exportin 6							69.0	83.0	78.0					16																	28109925		2151	4266	6417	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28109925C>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3312G>T	16.37:g.28109925C>A						XPO6_uc002dpb.1_Silent_p.L1090L|XPO6_uc010vcp.1_Silent_p.L1103L	p.L1104L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			24	3813	-			1104					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.3312G>T	CCDS42135.1																																																																																				PASS	0.607	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		16	8	16	8	---	---	---	---
SULT1A1	6817	broad.mit.edu	37	16	28619685	28619685	+	Missense_Mutation	SNP	G	G	A	rs142537541	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:28619685G>A	ENST00000395607.1	-	4	572	c.299C>T	c.(298-300)cCg>cTg	p.P100L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000395609.1_Missense_Mutation_p.P100L|SULT1A1_ENST00000314752.7_Missense_Mutation_p.P100L|SULT1A1_ENST00000569554.1_Missense_Mutation_p.P100L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	100					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.P100L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TCGTGGGGCCGGTGTGTCTTT	0.602													.|||	3	0.000599042	0.0	0.0	5008	,	,		19937	0.003		0.0	False		,,,				2504	0.0					uc002dqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)CCG>CTG		sulfotransferase family, cytosolic, 1A,		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,	1,4393		0,1,2196	213.0	163.0	180.0		299,299,299,299,	2.2	0.1	16	dbSNP_134	180	6,8594		0,6,4294	no	missense,missense,missense,missense,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	98,98,98,98,	0,7,6490	AA,AG,GG		0.0698,0.0228,0.0539	benign,benign,benign,benign,	100/296,100/296,100/296,100/296,	28619685	7,12987	2197	4300	6497	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28619685G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.299C>T	16.37:g.28619685G>A	ENSP00000378971:p.Pro100Leu					uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqk.2_Missense_Mutation_p.P100L|SULT1A1_uc002dql.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.P191L|SULT1A1_uc002dqo.2_Missense_Mutation_p.P100L|SULT1A1_uc002dqp.2_Missense_Mutation_p.P100L	p.P100L	NM_177534	NP_803878	P50225	ST1A1_HUMAN			3	772	-			100					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.299C>T	CCDS32420.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	11.94	1.787298	0.31593	2.28E-4	6.98E-4	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	D;D;D	0.83075	-1.68;-1.68;-1.68	2.21	2.21	0.28008	Sulfotransferase domain (1);	0.167873	0.42172	D	0.000758	D	0.85440	0.5697	M	0.91300	3.195	0.22112	N	0.999356	B	0.24186	0.099	B	0.30179	0.112	T	0.80926	-0.1164	10	0.72032	D	0.01	.	10.5575	0.45125	0.0:0.0:1.0:0.0	.	100	P50225	ST1A1_HUMAN	L	100	ENSP00000321988:P100L;ENSP00000378972:P100L;ENSP00000378971:P100L	ENSP00000321988:P100L	P	-	2	0	SULT1A1	28527186	0.983000	0.35010	0.067000	0.19924	0.149000	0.21700	4.718000	0.61930	1.566000	0.49654	0.306000	0.20318	CCG		PASS	0.602	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		21	73	21	73	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29888689	29888689	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:29888689G>A	ENST00000308713.5	-	11	2339	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	SEZ6L2_ENST00000346932.5_Silent_p.R490R|SEZ6L2_ENST00000350527.3_Silent_p.R534R|SEZ6L2_ENST00000537485.1_Silent_p.R560R	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	604	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R604R(1)|p.R534R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAGAGAAGGCGGCGGCGCG	0.662																																						uc002duq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1810-1812)CGC>CGT		seizure related 6 homolog (mouse)-like 2 isoform							17.0	20.0	19.0					16																	29888689		2193	4293	6486	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888689G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1812C>T	16.37:g.29888689G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.R534R|SEZ6L2_uc002dur.3_Silent_p.R534R|SEZ6L2_uc002dus.3_Silent_p.R490R|SEZ6L2_uc010vec.1_Silent_p.R604R|SEZ6L2_uc010ved.1_Silent_p.R560R	p.R604R	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			11	2052	-			604			CUB 3.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.1812C>T	CCDS10659.1																																																																																				PASS	0.662	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		6	0	6	0	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30975589	30975589	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:30975589C>T	ENST00000262519.8	+	6	1500	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	272	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P272S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCAAGGAACCCCCTACACGTC	0.632																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(814-816)CCC>TCC		SET domain containing 1A							98.0	81.0	87.0					16																	30975589		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30975589C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.814C>T	16.37:g.30975589C>T	ENSP00000262519:p.Pro272Ser					SETD1A_uc002eae.1_Missense_Mutation_p.P272S	p.P272S	NM_014712	NP_055527	O15047	SET1A_HUMAN			6	1500	+			272			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.814C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150042	0.78001	.	.	ENSG00000099381	ENST00000262519	D	0.99458	-5.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99597	1.0977	10	0.87932	D	0	.	18.561	0.91100	0.0:1.0:0.0:0.0	.	272	O15047	SET1A_HUMAN	S	272	ENSP00000262519:P272S	ENSP00000262519:P272S	P	+	1	0	SETD1A	30883090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	2.675000	0.91044	0.561000	0.74099	CCC		PASS	0.632	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	35	10	35	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66950320	66950320	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:66950320G>A	ENST00000299752.4	-	4	335	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.R48C|CDH16_ENST00000565796.1_Missense_Mutation_p.R48C|CDH16_ENST00000394055.3_Missense_Mutation_p.R48C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R48C(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCCCTCACGGGGCAGCGGC	0.592																																						uc002eql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(142-144)CGT>TGT		cadherin 16 precursor							45.0	41.0	43.0					16																	66950320		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950320G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.142C>T	16.37:g.66950320G>A	ENSP00000299752:p.Arg48Cys					CDH16_uc010cdy.2_Missense_Mutation_p.R48C|CDH16_uc002eqm.2_Missense_Mutation_p.R48C	p.R48C	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	4	215	-		Ovarian(137;0.0563)	48			Extracellular (Potential).|Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.142C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076176	0.36662	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70164	-0.46;-0.46	4.49	2.45	0.29901	Cadherin (3);Cadherin-like (1);	1.023400	0.07817	N	0.959115	T	0.55465	0.1922	L	0.29908	0.895	0.29820	N	0.830918	D;D;D	0.58268	0.982;0.982;0.97	P;B;B	0.44732	0.459;0.332;0.27	T	0.51052	-0.8754	10	0.45353	T	0.12	0.3187	6.0653	0.19860	0.0989:0.0:0.7177:0.1834	.	48;48;48	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	C	48	ENSP00000377619:R48C;ENSP00000299752:R48C	ENSP00000299752:R48C	R	-	1	0	CDH16	65507821	0.807000	0.29009	0.313000	0.25210	0.098000	0.18820	0.908000	0.28545	0.598000	0.29829	0.609000	0.83330	CGT		PASS	0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		7	18	7	18	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71103239	71103239	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:71103239C>T	ENST00000393567.2	-	14	2055	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	HYDIN_ENST00000448691.1_Missense_Mutation_p.M635I|HYDIN_ENST00000321489.5_Missense_Mutation_p.M635I|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000288168.10_Missense_Mutation_p.M652I|HYDIN_ENST00000393550.2_Missense_Mutation_p.M650I|HYDIN_ENST00000448089.2_Missense_Mutation_p.M635I|HYDIN_ENST00000541601.1_Missense_Mutation_p.M652I|HYDIN_ENST00000538248.1_Missense_Mutation_p.M662I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	635					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.M635I(3)|p.M650I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTTTGGTTTCATTGAGGATA	0.483																																						uc002ezr.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|skin(1)	2						c.(1903-1905)ATG>ATA		hydrocephalus inducing isoform a							148.0	145.0	146.0					16																	71103239		2197	4300	6497	SO:0001583	missense	54768							g.chr16:71103239C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1905G>A	16.37:g.71103239C>T	ENSP00000377197:p.Met635Ile					HYDIN_uc010cfz.1_Missense_Mutation_p.M380I|HYDIN_uc002ezv.2_Missense_Mutation_p.M635I|HYDIN_uc010vmc.1_Missense_Mutation_p.M652I|HYDIN_uc010vmd.1_Missense_Mutation_p.M662I|HYDIN_uc002ezw.3_Missense_Mutation_p.M652I	p.M635I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			14	2033	-		Ovarian(137;0.0654)	635					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.1905G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.332	-0.955298	0.02267	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.17	-1.57	0.08506	.	1.368180	0.05598	N	0.575939	T	0.04363	0.0120	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.0;0.001	T	0.46219	-0.9207	10	0.22109	T	0.4	.	7.1078	0.25372	0.0:0.3582:0.1459:0.4959	.	662;652;652;635;635	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	I	635;635;635;635;635;662;652;652;650	ENSP00000377197:M635I;ENSP00000398544:M635I;ENSP00000394826:M635I;ENSP00000314736:M635I;ENSP00000444970:M662I;ENSP00000437341:M652I;ENSP00000288168:M652I;ENSP00000377181:M650I	ENSP00000288168:M652I	M	-	3	0	HYDIN	69660740	0.001000	0.12720	0.036000	0.18154	0.031000	0.12232	-0.532000	0.06164	-0.154000	0.11118	-0.311000	0.09066	ATG		PASS	0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			8	54	8	54	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72159293	72159293	+	Silent	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:72159293C>G	ENST00000237353.10	-	16	2526	c.2265G>C	c.(2263-2265)gtG>gtC	p.V755V	PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000355636.6_Silent_p.V610V|PMFBP1_ENST00000537465.1_Silent_p.V760V	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	760						cytoplasm (GO:0005737)		p.V755V(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)				TCTCTGAGGTCACGTGATTGA	0.488											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2278-2280)GTG>GTC		polyamine modulated factor 1 binding protein 1							182.0	180.0	181.0					16																	72159293		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72159293C>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.2265G>C	16.37:g.72159293C>G			OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Silent_p.V755V|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.V610V|PMFBP1_uc010cgo.1_Silent_p.V51V	p.V760V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			16	2452	-		Ovarian(137;0.179)	760					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2280G>C	CCDS32483.1																																																																																				PASS	0.488	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		14	93	14	93	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74666541	74666541	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:74666541T>C	ENST00000361070.4	-	9	1554	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	RFWD3_ENST00000571750.1_Missense_Mutation_p.N486S	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	486					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N486S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCTCTTCATGTTGGCAGTACT	0.433																																						uc002fda.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1456-1458)AAC>AGC		ring finger and WD repeat domain 3							151.0	128.0	136.0					16																	74666541		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74666541T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1457A>G	16.37:g.74666541T>C	ENSP00000354361:p.Asn486Ser					RFWD3_uc010vmx.1_Missense_Mutation_p.N6S|RFWD3_uc010cgq.2_Missense_Mutation_p.N486S	p.N486S	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			9	1555	-			486					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1457A>G	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843432	0.51057	.	.	ENSG00000168411	ENST00000361070	T	0.27256	1.68	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);	0.086527	0.85682	D	0.000000	T	0.33904	0.0879	M	0.75447	2.3	0.45046	D	0.998061	P	0.38048	0.616	B	0.38225	0.268	T	0.17077	-1.0381	10	0.48119	T	0.1	-9.2448	15.584	0.76468	0.0:0.0:0.0:1.0	.	486	Q6PCD5	RFWD3_HUMAN	S	486	ENSP00000354361:N486S	ENSP00000354361:N486S	N	-	2	0	RFWD3	73224042	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.002000	0.49496	2.088000	0.63022	0.379000	0.24179	AAC		PASS	0.433	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		6	28	6	28	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77850871	77850871	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:77850871C>T	ENST00000302536.2	+	2	440	c.287C>T	c.(286-288)cCc>cTc	p.P96L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	96							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.P96L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GACAACCCTCCCAAGACTCCC	0.438																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(286-288)CCC>CTC		vesicle amine transport protein 1 homolog (T.							134.0	123.0	126.0					16																	77850871		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850871C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.287C>T	16.37:g.77850871C>T	ENSP00000303129:p.Pro96Leu						p.P96L	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			2	384	+			96					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.287C>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057607	0.93846	.	.	ENSG00000171724	ENST00000302536	T	0.41400	1.0	5.63	5.63	0.86233	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59048	-0.7527	10	0.87932	D	0	-8.9564	19.2868	0.94082	0.0:1.0:0.0:0.0	.	96	Q9HCJ6	VAT1L_HUMAN	L	96	ENSP00000303129:P96L	ENSP00000303129:P96L	P	+	2	0	VAT1L	76408372	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.660000	0.90430	0.313000	0.20887	CCC		PASS	0.438	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		11	56	11	56	---	---	---	---
DNAAF1	123872	broad.mit.edu	37	16	84188191	84188191	+	Missense_Mutation	SNP	G	G	A	rs34897947		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:84188191G>A	ENST00000378553.5	+	4	486	c.362G>A	c.(361-363)cGc>cAc	p.R121H	DNAAF1_ENST00000334315.5_Missense_Mutation_p.R121H	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	121					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.R121H(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGTTTTGATCGCATTGAGAAC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.0					uc002fhl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CGC>CAC		leucine rich repeat containing 50							92.0	88.0	90.0					16																	84188191		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188191G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.362G>A	16.37:g.84188191G>A	ENSP00000367815:p.Arg121His					LRRC50_uc010chi.1_RNA	p.R121H	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			4	543	+			121			LRR 1.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.362G>A	CCDS10943.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.11	2.735644	0.49045	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22336	1.96;1.96	4.99	4.03	0.46877	.	0.572609	0.18413	N	0.141986	T	0.34454	0.0898	L	0.49699	1.58	0.26802	N	0.969189	D	0.76494	0.999	D	0.64042	0.921	T	0.04347	-1.0958	10	0.52906	T	0.07	-16.257	9.6226	0.39730	0.1606:0.0:0.8394:0.0	.	121	Q8NEP3	DAAF1_HUMAN	H	121	ENSP00000334593:R121H;ENSP00000367815:R121H	ENSP00000334593:R121H	R	+	2	0	DNAAF1	82745692	0.019000	0.18553	0.995000	0.50966	0.531000	0.34715	1.999000	0.40806	2.306000	0.77630	0.650000	0.86243	CGC		PASS	0.498	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		5	30	5	30	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86544553	86544553	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:86544553G>C	ENST00000262426.4	+	1	421	c.378G>C	c.(376-378)ccG>ccC	p.P126P	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	126			P -> L (in ACDMPV). {ECO:0000269|PubMed:23505205}.		blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)	p.P101P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CCATCGACCCGGCCAGCGAGT	0.632																																						uc002fjl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)CCG>CCC		forkhead box F1							70.0	87.0	81.0					16																	86544553		2197	4300	6497	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544553G>C	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.378G>C	16.37:g.86544553G>C						uc002fjk.1_5'Flank	p.P126P	NM_001451	NP_001442	Q12946	FOXF1_HUMAN			1	421	+			126			Fork-head.		B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.378G>C	CCDS10957.2																																																																																				PASS	0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		28	21	28	21	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294627	89294627	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:89294627C>A	ENST00000433976.2	+	6	2179	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.P574H	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	616					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.P616H(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGTGAGAAACCCTACATATGT	0.463																																						uc002fmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1846-1848)CCC>CAC		zinc finger protein 778							77.0	81.0	80.0					16																	89294627		2184	4293	6477	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294627C>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1847C>A	16.37:g.89294627C>A	ENSP00000405289:p.Pro616His					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.P574H|ZNF778_uc010vpg.1_Missense_Mutation_p.P379H	p.P616H	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2186	+			616					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1847C>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710429	0.48517	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.17528	2.27;2.27	0.831	0.831	0.18860	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44993	0.1320	M	0.91140	3.18	0.29350	N	0.86539	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.32666	-0.9898	9	0.72032	D	0.01	.	7.5546	0.27817	0.0:1.0:0.0:0.0	.	574;616	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	H	616;574	ENSP00000405289:P616H;ENSP00000305203:P574H	ENSP00000305203:P574H	P	+	2	0	ZNF778	87822128	0.976000	0.34144	0.025000	0.17156	0.021000	0.10359	3.807000	0.55591	0.745000	0.32763	0.558000	0.71614	CCC		PASS	0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		19	70	19	70	---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2866729	2866729	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:2866729C>A	ENST00000254695.8	+	6	342	c.252C>A	c.(250-252)gaC>gaA	p.D84E	CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.D69E|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.D84E|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.D65E	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	84					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.D84E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCAGGACGACTATATCCCAT	0.587																																						uc010ckd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(250-252)GAC>GAA		RAP1 GTPase activating protein 2 isoform 1							194.0	202.0	200.0					17																	2866729		2096	4217	6313	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2866729C>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.252C>A	17.37:g.2866729C>A	ENSP00000254695:p.Asp84Glu					RAP1GAP2_uc010cke.2_Missense_Mutation_p.D69E	p.D84E	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN			6	342	+			84					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.252C>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.262802	0.59431	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.90385	-2.55;-2.66;-2.54;-2.55	5.12	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	L	0.47716	1.5	0.45502	D	0.998462	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.959	D	0.91213	0.5000	10	0.35671	T	0.21	-24.3557	12.5332	0.56128	0.0:0.9179:0.0:0.0821	.	69;84	Q684P5-2;Q684P5	.;RPGP2_HUMAN	E	84;69;65;84	ENSP00000254695:D84E;ENSP00000389824:D69E;ENSP00000439688:D65E;ENSP00000444890:D84E	ENSP00000254695:D84E	D	+	3	2	RAP1GAP2	2813479	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.400000	0.52594	1.291000	0.44653	0.651000	0.88453	GAC		PASS	0.587	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			25	69	25	69	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>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.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	12	20	12	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7840130	7840130	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:7840130C>A	ENST00000563694.1	+	6	1748	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	CNTROB_ENST00000380255.3_Missense_Mutation_p.Q275K|CNTROB_ENST00000565740.1_Missense_Mutation_p.Q275K|CNTROB_ENST00000380262.3_Missense_Mutation_p.Q275K	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	275					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.Q275K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGCAGCAGGAGGTGAG	0.547																																						uc002gjq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(823-825)CAG>AAG		centrobin, centrosomal BRCA2 interacting protein							52.0	56.0	55.0					17																	7840130		2202	4300	6502	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7840130C>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.823C>A	17.37:g.7840130C>A	ENSP00000456335:p.Gln275Lys					CNTROB_uc002gjp.2_Missense_Mutation_p.Q275K|CNTROB_uc002gjr.2_Missense_Mutation_p.Q177K|CNTROB_uc010vum.1_5'Flank	p.Q275K	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			7	1742	+		Prostate(122;0.173)	275			Potential.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.823C>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755260	0.49362	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.62639	0.01;0.75	5.62	5.62	0.85841	.	0.205916	0.33854	N	0.004489	T	0.45716	0.1356	L	0.29908	0.895	0.32894	D	0.51222	B;B;B	0.28713	0.22;0.22;0.22	B;B;B	0.27887	0.084;0.084;0.084	T	0.48714	-0.9011	10	0.07644	T	0.81	-24.5486	12.3021	0.54880	0.2689:0.7311:0.0:0.0	.	275;275;275	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	K	275	ENSP00000369614:Q275K;ENSP00000369605:Q275K	ENSP00000369605:Q275K	Q	+	1	0	CNTROB	7780855	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.623000	0.37008	2.812000	0.96745	0.561000	0.74099	CAG		PASS	0.547	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		21	10	21	10	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10426947	10426947	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:10426947C>A	ENST00000245503.5	-	37	5722	c.5338G>T	c.(5338-5340)Gac>Tac	p.D1780Y	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.D1780Y|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1780					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1780Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCTGGTGTCCTGCTCCTTC	0.507																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5338-5340)GAC>TAC		myosin heavy chain IIa							112.0	113.0	113.0					17																	10426947		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426947C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5338G>T	17.37:g.10426947C>A	ENSP00000245503:p.Asp1780Tyr					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D1780Y|MYH2_uc010coj.2_Intron	p.D1780Y	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			37	5466	-			1780			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5338G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344930	0.82022	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80393	-1.37;-1.37	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.41500	U	0.000880	D	0.92831	0.7720	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94328	0.7559	10	0.87932	D	0	.	19.1704	0.93575	0.0:1.0:0.0:0.0	.	1780	Q9UKX2	MYH2_HUMAN	Y	1780	ENSP00000245503:D1780Y;ENSP00000380367:D1780Y	ENSP00000245503:D1780Y	D	-	1	0	MYH2	10367672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.756000	0.94617	0.650000	0.86243	GAC		PASS	0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		34	25	34	25	---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18891670	18891670	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:18891670C>G	ENST00000388995.6	-	3	803	c.580G>C	c.(580-582)Gac>Cac	p.D194H	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D194H|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D194H|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	194					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.D194H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAGCCGGCGTCCAGCAGGTCC	0.557																																						uc002guw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(580-582)GAC>CAC		hypothetical protein LOC644815							103.0	107.0	105.0					17																	18891670		2128	4231	6359	SO:0001583	missense	644815							g.chr17:18891670C>G	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.580G>C	17.37:g.18891670C>G	ENSP00000373647:p.Asp194His					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.D194H	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			3	747	-			194					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.580G>C	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724408	0.48728	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.15372	2.43;2.43	5.29	5.29	0.74685	.	0.050219	0.85682	D	0.000000	T	0.46073	0.1374	M	0.80982	2.52	0.58432	D	0.999991	D	0.71674	0.998	D	0.69654	0.965	T	0.49504	-0.8933	10	0.72032	D	0.01	-22.1366	18.9319	0.92570	0.0:1.0:0.0:0.0	.	194	A6ND36	FA83G_HUMAN	H	194	ENSP00000373647:D194H;ENSP00000343279:D194H	ENSP00000343279:D194H	D	-	1	0	FAM83G	18832395	1.000000	0.71417	0.613000	0.29037	0.923000	0.55619	7.757000	0.85209	2.497000	0.84241	0.591000	0.81541	GAC		PASS	0.557	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			7	84	7	84	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29162409	29162409	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:29162409T>A	ENST00000321990.4	+	2	1688	c.1310T>A	c.(1309-1311)gTa>gAa	p.V437E	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	437					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.V437E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTATATGAAGTAGGAAGAGAT	0.313																																						uc002hfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1309-1311)GTA>GAA		ATPase family, AAA domain containing 5							43.0	48.0	46.0					17																	29162409		2124	4269	6393	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162409T>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1310T>A	17.37:g.29162409T>A	ENSP00000313171:p.Val437Glu					ATAD5_uc002hft.1_Missense_Mutation_p.V334E	p.V437E	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			2	1656	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	437					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1310T>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	2.877	-0.232575	0.05983	.	.	ENSG00000176208	ENST00000321990	T	0.06449	3.3	5.91	2.52	0.30459	.	0.669254	0.15944	N	0.237054	T	0.01489	0.0048	N	0.00368	-1.59	0.20196	N	0.999927	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46133	-0.9213	10	0.22109	T	0.4	.	4.9355	0.13939	0.7168:0.0:0.1467:0.1365	.	437;437	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	E	437	ENSP00000313171:V437E	ENSP00000313171:V437E	V	+	2	0	ATAD5	26186535	0.992000	0.36948	0.951000	0.38953	0.379000	0.30106	2.265000	0.43311	0.162000	0.19483	-1.029000	0.02412	GTA		PASS	0.313	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		30	44	30	44	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	31098203	31098203	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:31098203A>G	ENST00000318217.5	-	6	958	c.654T>C	c.(652-654)tcT>tcC	p.S218S	MYO1D_ENST00000583621.1_Silent_p.S218S|MYO1D_ENST00000579584.1_Silent_p.S218S|MYO1D_ENST00000394649.4_Silent_p.S130S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	218	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S218S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGAGATGTAGAGAGCGTAGCA	0.363																																						uc002hho.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(652-654)TCT>TCC		myosin ID							117.0	117.0	117.0					17																	31098203		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31098203A>G	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.654T>C	17.37:g.31098203A>G						MYO1D_uc002hhp.1_Silent_p.S218S|MYO1D_uc010wcb.1_Silent_p.S218S	p.S218S	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		6	666	-			218			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.654T>C	CCDS32615.1																																																																																				PASS	0.363	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	37	5	37	---	---	---	---
NLE1	54475	broad.mit.edu	37	17	33463218	33463218	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:33463218C>T	ENST00000442241.4	-	9	1020	c.981G>A	c.(979-981)gaG>gaA	p.E327E	NLE1_ENST00000586869.1_Silent_p.E35E|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Silent_p.E285E	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	327					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E327E(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCAGAGCCCTCTCCTTCAACT	0.537																																						uc002hiy.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)	4						c.(979-981)GAG>GAA		Notchless gene homolog isoform a							162.0	165.0	164.0					17																	33463218		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33463218C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.981G>A	17.37:g.33463218C>T						NLE1_uc010ctn.1_Silent_p.E35E|NLE1_uc002hiz.1_Silent_p.E35E	p.E327E	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			9	1009	-		Ovarian(249;0.17)	327			WD 5.		O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.981G>A	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.167901	0.21621	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.1	2.04	0.26737	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43589	-0.9382	4	.	.	.	-20.2573	6.6546	0.22981	0.0:0.6858:0.148:0.1661	.	.	.	.	K	107	.	.	R	-	2	0	NLE1	30487331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.072000	0.30678	0.332000	0.23536	0.563000	0.77884	AGA		PASS	0.537	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		10	177	10	177	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33904432	33904432	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:33904432C>A	ENST00000225873.4	-	2	912	c.305G>T	c.(304-306)aGa>aTa	p.R102I	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	102					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R102I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTAGCCAATCTCTGAGACTT	0.438																																						uc002hjp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)AGA>ATA		peroxisomal biogenesis factor 12							151.0	169.0	163.0					17																	33904432		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904432C>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.305G>T	17.37:g.33904432C>A	ENSP00000225873:p.Arg102Ile						p.R102I	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	921	-			102			Cytoplasmic (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.305G>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	7.562	0.664909	0.14710	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.85088	-1.94	5.46	4.47	0.54385	Pex, N-terminal (1);	0.307048	0.31554	N	0.007455	T	0.81767	0.4892	L	0.56769	1.78	0.20074	N	0.999935	B	0.25169	0.119	B	0.23716	0.048	T	0.67260	-0.5715	10	0.21540	T	0.41	-6.3201	14.4829	0.67594	0.0:0.7017:0.2983:0.0	.	102	O00623	PEX12_HUMAN	I	102	ENSP00000225873:R102I	ENSP00000225873:R102I	R	-	2	0	PEX12	30928545	0.003000	0.15002	0.801000	0.32222	0.243000	0.25628	1.357000	0.34090	1.269000	0.44280	0.650000	0.86243	AGA		PASS	0.438	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		74	106	74	106	---	---	---	---
KRTAP9-2	83899	broad.mit.edu	37	17	39382974	39382974	+	Missense_Mutation	SNP	G	G	T	rs149082553	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:39382974G>T	ENST00000377721.3	+	1	75	c.68G>T	c.(67-69)tGc>tTc	p.C23F	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.C23F	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	23	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.C23F(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGGACCACCTGCTGGAAGCCC	0.647																																						uc002hwf.2																			1	Substitution - Missense(1)	p.C23*(1)	lung(1)	upper_aerodigestive_tract(1)	1						c.(67-69)TGC>TTC		keratin associated protein 9.2							68.0	68.0	68.0					17																	39382974		2203	4300	6503	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39382974G>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.68G>T	17.37:g.39382974G>T	ENSP00000366950:p.Cys23Phe						p.C23F	NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	75	+		Breast(137;0.000496)	23			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.68G>T	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.411455	0.25465	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.02015	4.71;4.5	2.64	2.64	0.31445	.	.	.	.	.	T	0.13030	0.0316	M	0.89601	3.045	0.33626	D	0.60547	D	0.69078	0.997	D	0.70935	0.971	T	0.08597	-1.0714	9	0.87932	D	0	.	9.0048	0.36104	0.0:0.0:1.0:0.0	.	23	Q9BYQ4	KRA92_HUMAN	F	23	ENSP00000366950:C23F;ENSP00000398325:C23F	ENSP00000366950:C23F	C	+	2	0	KRTAP9-2	36636500	0.992000	0.36948	0.944000	0.38274	0.592000	0.36648	2.504000	0.45416	1.806000	0.52798	0.552000	0.68991	TGC		PASS	0.647	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			5	79	5	79	---	---	---	---
KRTAP9-4	85280	broad.mit.edu	37	17	39406040	39406040	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:39406040G>T	ENST00000334109.2	+	1	102	c.68G>T	c.(67-69)tGc>tTc	p.C23F		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	23	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.C23F(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGGACCACCTGCTGGAAGCCC	0.627																																						uc002hwi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TGC>TTC		keratin associated protein 9-4							91.0	77.0	81.0					17																	39406040		2203	4296	6499	SO:0001583	missense	85280					keratin filament		g.chr17:39406040G>T	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.68G>T	17.37:g.39406040G>T	ENSP00000334922:p.Cys23Phe					KRTAP9-9_uc010wfq.1_Intron	p.C23F	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	102	+		Breast(137;0.000496)	23			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.68G>T	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.981514	0.34942	.	.	ENSG00000241595;ENSG00000198083	ENST00000334109;ENST00000431129	T	0.01484	4.84	2.62	1.56	0.23342	.	.	.	.	.	T	0.04724	0.0128	M	0.64997	1.995	0.34646	D	0.721138	D	0.59357	0.985	P	0.58130	0.833	T	0.42137	-0.9469	9	0.72032	D	0.01	.	3.7819	0.08684	0.1494:0.2607:0.5899:0.0	.	23	Q9BYQ2	KRA94_HUMAN	F	23	ENSP00000334922:C23F	ENSP00000334922:C23F	C	+	2	0	KRTAP9-4;KRTAP9-9	36659566	0.624000	0.27102	0.995000	0.50966	0.422000	0.31414	1.072000	0.30678	0.597000	0.29811	0.400000	0.26472	TGC		PASS	0.627	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			27	63	27	63	---	---	---	---
KRT32	3882	broad.mit.edu	37	17	39623327	39623327	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:39623327C>T	ENST00000225899.3	-	1	354	c.251G>A	c.(250-252)gGc>gAc	p.G84D	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	84	Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.G84D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GTACCAGCTGCCGGGGCCCAT	0.622																																						uc002hwr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGC>GAC		keratin 32							54.0	57.0	56.0					17																	39623327		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39623327C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.251G>A	17.37:g.39623327C>T	ENSP00000225899:p.Gly84Asp						p.G84D	NM_002278	NP_002269	Q14532	K1H2_HUMAN			1	312	-		Breast(137;0.000812)	84			Head.			Missense_Mutation	SNP	ENST00000225899.3	37	c.251G>A	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	6.269	0.417823	0.11870	.	.	ENSG00000108759	ENST00000225899	D	0.83163	-1.69	5.08	-1.49	0.08718	.	0.445574	0.16706	N	0.202906	T	0.70202	0.3197	L	0.29908	0.895	0.09310	N	1	B	0.30406	0.278	B	0.35182	0.197	T	0.60786	-0.7194	10	0.49607	T	0.09	.	5.2836	0.15688	0.0:0.4196:0.2378:0.3427	.	84	Q14532	K1H2_HUMAN	D	84	ENSP00000225899:G84D	ENSP00000225899:G84D	G	-	2	0	KRT32	36876853	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.025000	0.13577	-0.080000	0.12685	0.462000	0.41574	GGC		PASS	0.622	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		6	38	6	38	---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39974690	39974690	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:39974690G>A	ENST00000321562.4	+	4	742	c.638G>A	c.(637-639)gGc>gAc	p.G213D	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	213	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G213D(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTGATCAAGGGCATGGACCAG	0.587																																						uc002hxv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GGC>GAC		FK506 binding protein 10 precursor							113.0	94.0	101.0					17																	39974690		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974690G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.638G>A	17.37:g.39974690G>A	ENSP00000317232:p.Gly213Asp					FKBP10_uc002hxw.1_5'Flank	p.G213D	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	4	963	+		Breast(137;0.00122)	213			PPIase FKBP-type 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.638G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269703	0.95429	.	.	ENSG00000141756	ENST00000321562;ENST00000414352	T	0.73258	-0.73	5.68	5.68	0.88126	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94916	0.8069	10	0.66056	D	0.02	-24.684	19.4055	0.94646	0.0:0.0:1.0:0.0	.	213	Q96AY3	FKB10_HUMAN	D	213	ENSP00000317232:G213D	ENSP00000317232:G213D	G	+	2	0	FKBP10	37228216	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.698000	0.92095	0.561000	0.74099	GGC		PASS	0.587	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		18	24	18	24	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478425	42478425	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:42478425G>A	ENST00000591680.1	-	8	1050	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	GPATCH8_ENST00000434000.1_Silent_p.D262D	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	340							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D340D(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)		GCAGTCCTTGGTCAGAACTCT	0.483											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1018-1020)GAC>GAT		G patch domain containing 8							114.0	119.0	118.0					17																	42478425		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478425G>A	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.1020C>T	17.37:g.42478425G>A			OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Silent_p.D262D|GPATCH8_uc010wiz.1_Silent_p.D262D	p.D340D	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1084	-		Prostate(33;0.0181)	340					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.1020C>T	CCDS32666.1																																																																																				PASS	0.483	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		54	56	54	56	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219266	45219266	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:45219266G>A	ENST00000066544.3	-	12	1597	c.1504C>T	c.(1504-1506)Ctg>Ttg	p.L502L	CDC27_ENST00000446365.2_Silent_p.L441L|CDC27_ENST00000531206.1_Silent_p.L508L|CDC27_ENST00000527547.1_Silent_p.L501L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	502					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L502L(1)|p.L508L(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATTTGGCACAGTACCCAACCA	0.348																																						uc002ild.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(1504-1506)CTG>TTG		cell division cycle protein 27 isoform 2							102.0	107.0	106.0					17																	45219266		2203	4298	6501	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219266G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1504C>T	17.37:g.45219266G>A						CDC27_uc002ile.3_Silent_p.L508L|CDC27_uc002ilf.3_Silent_p.L501L|CDC27_uc010wkp.1_Silent_p.L441L|CDC27_uc010wkq.1_Intron	p.L502L	NM_001256	NP_001247	P30260	CDC27_HUMAN			12	1631	-			502			TPR 3.		G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1504C>T	CCDS11509.1																																																																																				PASS	0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	172	8	172	---	---	---	---
PDK2	5164	broad.mit.edu	37	17	48185764	48185764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:48185764G>T	ENST00000503176.1	+	8	1005	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	PDK2_ENST00000007708.3_Nonsense_Mutation_p.E218*	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	282	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.E282*(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTTGGGTGAGGAAGATCTGTC	0.577									Autosomal Dominant Polycystic Kidney Disease																													uc002iqc.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(3)	3						c.(844-846)GAA>TAA		pyruvate dehydrogenase kinase 2 precursor							72.0	59.0	64.0					17																	48185764		2203	4300	6503	SO:0001587	stop_gained	5164	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48185764G>T	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.844G>T	17.37:g.48185764G>T	ENSP00000420927:p.Glu282*					PDK2_uc002iqb.2_Nonsense_Mutation_p.E218*	p.E282*	NM_002611	NP_002602	Q15119	PDK2_HUMAN			8	948	+			282			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Nonsense_Mutation	SNP	ENST00000503176.1	37	c.844G>T	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	37	6.569882	0.97671	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	.	.	.	4.61	3.62	0.41486	.	0.182364	0.46442	D	0.000283	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1461	12.3108	0.54927	0.0862:0.0:0.9138:0.0	.	.	.	.	X	218;282;218	.	ENSP00000007708:E218X	E	+	1	0	PDK2	45540763	1.000000	0.71417	0.841000	0.33234	0.937000	0.57800	9.758000	0.98927	1.049000	0.40321	0.555000	0.69702	GAA		PASS	0.577	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		7	19	7	19	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247070	56247070	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:56247070G>A	ENST00000545221.1	+	1	54	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGGGCTCTCGCAGACTCGGG	0.468																																						uc010wnp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(52-54)TCG>TCA		olfactory receptor, family 4, subfamily D,							122.0	113.0	116.0					17																	56247070		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247070G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.54G>A	17.37:g.56247070G>A							p.S18S	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	54	+			18			Extracellular (Potential).		Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.54G>A	CCDS32688.1																																																																																				PASS	0.468	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			42	56	42	56	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56270463	56270463	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:56270463G>A	ENST00000225371.5	+	2	251	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	47					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V47V(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGTTGCTGGTGGATGCTGCCT	0.607																																						uc002ivq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(139-141)GTG>GTA		eosinophil peroxidase preproprotein							109.0	109.0	109.0					17																	56270463		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270463G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.141G>A	17.37:g.56270463G>A							p.V47V	NM_000502	NP_000493	P11678	PERE_HUMAN			2	227	+			47					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.141G>A	CCDS11602.1																																																																																				PASS	0.607	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		24	49	24	49	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56573053	56573053	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:56573053G>A	ENST00000323456.5	-	16	2574	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P760L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	817					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.P817L(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACTCGGTGGGTTGCAAAC	0.562																																						uc002iwj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2449-2451)CCA>CTA		myotubularin related protein 4							102.0	101.0	101.0					17																	56573053		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56573053G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2450C>T	17.37:g.56573053G>A	ENSP00000325285:p.Pro817Leu						p.P817L	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			16	2560	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		817					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.2450C>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775138	0.02951	.	.	ENSG00000108389	ENST00000323456	D	0.92911	-3.13	4.81	3.84	0.44239	.	0.583312	0.18744	N	0.132365	D	0.84629	0.5514	L	0.27053	0.805	0.09310	N	0.999999	B	0.15473	0.013	B	0.10450	0.005	T	0.71421	-0.4598	10	0.25751	T	0.34	.	8.9786	0.35950	0.1008:0.0:0.8992:0.0	.	817	Q9NYA4	MTMR4_HUMAN	L	817	ENSP00000325285:P817L	ENSP00000325285:P817L	P	-	2	0	MTMR4	53928052	0.833000	0.29383	0.067000	0.19924	0.078000	0.17371	1.413000	0.34725	1.378000	0.46305	0.655000	0.94253	CCA		PASS	0.562	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		13	61	13	61	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57743957	57743957	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:57743957A>G	ENST00000269122.3	+	12	2173	c.1899A>G	c.(1897-1899)ttA>ttG	p.L633L	CLTC_ENST00000393043.1_Silent_p.L633L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	633	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.L633L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCACTGATTTATATGATATAA	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(1897-1899)TTA>TTG		clathrin heavy chain 1							106.0	98.0	101.0					17																	57743957		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57743957A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1899A>G	17.37:g.57743957A>G						CLTC_uc002ixp.2_Silent_p.L633L|CLTC_uc002ixr.1_Silent_p.L637L	p.L633L	NM_004859	NP_004850	Q00610	CLH1_HUMAN			12	2342	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		633			Heavy chain arm.|Distal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.1899A>G	CCDS32696.1																																																																																				PASS	0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		20	26	20	26	---	---	---	---
RNFT1	51136	broad.mit.edu	37	17	58040613	58040613	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:58040613G>A	ENST00000305783.8	-	2	144	c.89C>T	c.(88-90)tCa>tTa	p.S30L	RNFT1_ENST00000442346.2_5'UTR|RP11-178C3.2_ENST00000586209.1_lincRNA|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	30						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S30L(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CTTTTTCTCTGACCCAGATGT	0.443																																						uc002iya.2																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)TCA>TTA		PTD016 protein							67.0	67.0	67.0					17																	58040613		2203	4300	6503	SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040613G>A	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.89C>T	17.37:g.58040613G>A	ENSP00000304670:p.Ser30Leu					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.S30L|RNFT1_uc002iyd.3_Missense_Mutation_p.S30L	p.S30L	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	182	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		30					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	c.89C>T	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.581888	0.28180	.	.	ENSG00000189050	ENST00000305783	T	0.44482	0.92	5.12	0.361	0.16107	.	0.781795	0.09862	U	0.746054	T	0.26122	0.0637	L	0.36672	1.1	0.28257	N	0.925021	B;B;B	0.16396	0.017;0.017;0.003	B;B;B	0.16289	0.008;0.015;0.002	T	0.26430	-1.0103	10	0.23891	T	0.37	.	1.7504	0.02970	0.1471:0.2493:0.3481:0.2555	.	30;30;30	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	L	30	ENSP00000304670:S30L	ENSP00000304670:S30L	S	-	2	0	RNFT1	55395395	0.760000	0.28428	0.141000	0.22245	0.025000	0.11179	0.824000	0.27379	0.129000	0.18514	0.591000	0.81541	TCA		PASS	0.443	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		17	73	17	73	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67077276	67077276	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:67077276A>T	ENST00000284425.2	-	37	4801	c.4627T>A	c.(4627-4629)Ttg>Atg	p.L1543M	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1543					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1543M(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAGGTTAACAAAGAGGAATAC	0.373																																						uc002jhw.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4627-4629)TTG>ATG		ATP-binding cassette, sub-family A, member 6							88.0	90.0	89.0					17																	67077276		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67077276A>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4627T>A	17.37:g.67077276A>T	ENSP00000284425:p.Leu1543Met						p.L1543M	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			37	4802	-	Breast(10;5.65e-12)		1543					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4627T>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791028	0.31685	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.81163	-1.46	5.26	2.98	0.34508	.	0.443760	0.18910	N	0.127798	T	0.73783	0.3631	L	0.55990	1.75	0.80722	D	1	P	0.46706	0.883	B	0.42827	0.399	T	0.66240	-0.5973	10	0.28530	T	0.3	.	7.046	0.25046	0.7407:0.0:0.2593:0.0	.	1543	Q8N139	ABCA6_HUMAN	M	1543;403	ENSP00000284425:L1543M	ENSP00000284425:L1543M	L	-	1	2	ABCA6	64588871	0.128000	0.22383	0.092000	0.20876	0.289000	0.27227	0.413000	0.21148	0.418000	0.25898	0.533000	0.62120	TTG		PASS	0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		13	57	13	57	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74473789	74473789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:74473789C>A	ENST00000313080.4	-	7	1111	c.838G>T	c.(838-840)Gag>Tag	p.E280*	RHBDF2_ENST00000591885.1_Nonsense_Mutation_p.E251*|RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.E251*|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	280					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.E280*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ACCACATCCTCCTCCAGGAAG	0.637																																						uc002jrq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(838-840)GAG>TAG		rhomboid, veinlet-like 6 isoform 1							139.0	104.0	116.0					17																	74473789		2203	4300	6503	SO:0001587	stop_gained	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473789C>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.838G>T	17.37:g.74473789C>A	ENSP00000322775:p.Glu280*					RHBDF2_uc002jrp.1_Nonsense_Mutation_p.E251*|RHBDF2_uc002jrr.1_Nonsense_Mutation_p.E132*|RHBDF2_uc010wtf.1_Nonsense_Mutation_p.E251*|RHBDF2_uc002jrs.1_Nonsense_Mutation_p.E275*	p.E280*	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			7	1131	-			280			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Nonsense_Mutation	SNP	ENST00000313080.4	37	c.838G>T	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382377	0.98786	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-39.0883	19.233	0.93847	0.0:1.0:0.0:0.0	.	.	.	.	X	280;251;226	.	ENSP00000322775:E280X	E	-	1	0	RHBDF2	71985384	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.487000	0.81328	2.538000	0.85594	0.491000	0.48974	GAG		PASS	0.637	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		6	91	6	91	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77082341	77082341	+	Silent	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:77082341A>G	ENST00000579016.1	+	14	2142	c.2142A>G	c.(2140-2142)gaA>gaG	p.E714E		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	714						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.E714E(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GTCGCATGGAATTTCTGGTGG	0.617																																						uc002jwv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2140-2142)GAA>GAG		endo-beta-N-acetylglucosaminidase							46.0	56.0	53.0					17																	77082341		1970	4143	6113	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082341A>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2142A>G	17.37:g.77082341A>G						ENGASE_uc002jww.2_Silent_p.E419E	p.E714E	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			14	2150	+			714					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.2142A>G	CCDS42394.1																																																																																				PASS	0.617	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		8	20	8	20	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790192	80790192	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:80790192C>A	ENST00000269394.3	-	2	972	c.139G>T	c.(139-141)Ggt>Tgt	p.G47C	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	47					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G47C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTACAAAGACCATACTTCATG	0.423																																						uc002kga.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(139-141)GGT>TGT		zinc finger protein 750							115.0	109.0	111.0					17																	80790192		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790192C>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.139G>T	17.37:g.80790192C>A	ENSP00000269394:p.Gly47Cys					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.G47C	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	450	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	47					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.139G>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237512	0.58886	.	.	ENSG00000141579	ENST00000269394	T	0.28666	1.6	5.7	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.56031	0.1958	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59021	-0.7532	9	.	.	.	-23.6597	15.8297	0.78741	0.0:0.8638:0.1362:0.0	.	47	Q32MQ0	ZN750_HUMAN	C	47	ENSP00000269394:G47C	.	G	-	1	0	ZNF750	78383481	1.000000	0.71417	0.427000	0.26684	0.549000	0.35272	5.884000	0.69729	1.392000	0.46585	0.655000	0.94253	GGT		PASS	0.423	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		5	94	5	94	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	346412	346412	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:346412C>G	ENST00000400256.3	-	5	1417	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	404					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.D404H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTCATCAAATCTTGTTGCATC	0.428																																						uc002kkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1210-1212)GAT>CAT		collectin sub-family member 12							160.0	140.0	147.0					18																	346412		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346412C>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1210G>C	18.37:g.346412C>G	ENSP00000383115:p.Asp404His						p.D404H	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1425	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	404			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1210G>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058599	0.55325	.	.	ENSG00000158270	ENST00000400256	D	0.97066	-4.23	5.76	5.76	0.90799	.	0.089713	0.85682	D	0.000000	D	0.97114	0.9057	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.97684	1.0174	10	0.54805	T	0.06	-23.0203	19.9571	0.97224	0.0:1.0:0.0:0.0	.	404	Q5KU26	COL12_HUMAN	H	404	ENSP00000383115:D404H	ENSP00000383115:D404H	D	-	1	0	COLEC12	336412	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.712000	0.68407	2.721000	0.93114	0.655000	0.94253	GAT		PASS	0.428	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			14	75	14	75	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3189056	3189056	+	Missense_Mutation	SNP	G	G	A	rs140845661	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:3189056G>A	ENST00000356443.4	-	4	794	c.461C>T	c.(460-462)aCg>aTg	p.T154M	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.T154M|MYOM1_ENST00000261606.7_Missense_Mutation_p.T154M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	154					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T154M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCTTCTTCCGTATCAGTAAT	0.383													G|||	13	0.00259585	0.0098	0.0	5008	,	,		19326	0.0		0.0	False		,,,				2504	0.0					uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(460-462)ACG>ATG		myomesin 1 isoform a		G	MET/THR,MET/THR	25,3711		0,25,1843	145.0	131.0	135.0		461,461	5.0	0.3	18	dbSNP_134	135	0,8216		0,0,4108	yes	missense,missense	MYOM1	NM_003803.3,NM_019856.1	81,81	0,25,5951	AA,AG,GG		0.0,0.6692,0.2092	probably-damaging,probably-damaging	154/1686,154/1590	3189056	25,11927	1868	4108	5976	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3189056G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.461C>T	18.37:g.3189056G>A	ENSP00000348821:p.Thr154Met					MYOM1_uc002klq.2_Missense_Mutation_p.T154M	p.T154M	NM_003803	NP_003794	P52179	MYOM1_HUMAN			4	795	-			154					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.461C>T	CCDS45824.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	G	15.28	2.786526	0.49997	0.006692	0.0	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.64618	-0.03;-0.02;-0.11	5.84	4.97	0.65823	.	0.177531	0.48767	D	0.000168	T	0.52661	0.1748	L	0.29908	0.895	0.34215	D	0.674714	D;D	0.89917	1.0;0.999	P;P	0.61201	0.885;0.817	T	0.75167	-0.3413	10	0.66056	D	0.02	.	17.2077	0.86922	0.0:0.126:0.874:0.0	.	154;154	P52179-2;P52179	.;MYOM1_HUMAN	M	154	ENSP00000348821:T154M;ENSP00000383413:T154M;ENSP00000261606:T154M	ENSP00000261606:T154M	T	-	2	0	MYOM1	3179056	1.000000	0.71417	0.298000	0.25002	0.799000	0.45148	6.441000	0.73439	1.480000	0.48289	-0.182000	0.12963	ACG		PASS	0.383	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		12	109	12	109	---	---	---	---
APCDD1	147495	broad.mit.edu	37	18	10485545	10485545	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:10485545G>C	ENST00000355285.5	+	4	1215	c.861G>C	c.(859-861)ctG>ctC	p.L287L	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.L287L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGGCAGACCTGACCATCGGCC	0.597																																						uc002kom.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(859-861)CTG>CTC		adenomatosis polyposis coli down-regulated 1							114.0	97.0	103.0					18																	10485545		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10485545G>C	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.861G>C	18.37:g.10485545G>C							p.L287L	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	4	1215	+			287			Extracellular (Potential).			Silent	SNP	ENST00000355285.5	37	c.861G>C	CCDS11849.1																																																																																				PASS	0.597	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		7	46	7	46	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28612167	28612167	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:28612167T>G	ENST00000360428.4	-	2	225	c.145A>C	c.(145-147)Att>Ctt	p.I49L	DSC3_ENST00000434452.1_Missense_Mutation_p.I49L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	49					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.I49L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTCTGCCAATTATTTTGTCT	0.343																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(145-147)ATT>CTT		desmocollin 3 isoform Dsc3a preproprotein							73.0	72.0	72.0					18																	28612167		2202	4300	6502	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28612167T>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.145A>C	18.37:g.28612167T>G	ENSP00000353608:p.Ile49Leu					DSC3_uc002kwi.3_Missense_Mutation_p.I49L	p.I49L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		2	300	-			49					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.145A>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159605	0.38119	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.32988	1.43;1.43	5.35	-3.57	0.04612	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.17238	0.0414	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.16603	0.013;0.018	B;B	0.26310	0.068;0.041	T	0.39623	-0.9605	9	0.15952	T	0.53	.	8.3436	0.32258	0.0:0.3457:0.1073:0.547	.	49;49	Q14574;Q14574-2	DSC3_HUMAN;.	L	49	ENSP00000353608:I49L;ENSP00000392068:I49L	ENSP00000353608:I49L	I	-	1	0	DSC3	26866165	0.001000	0.12720	0.000000	0.03702	0.972000	0.66771	-0.336000	0.07863	-0.541000	0.06257	0.533000	0.62120	ATT		PASS	0.343	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		8	26	8	26	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29487430	29487430	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:29487430C>G	ENST00000283351.4	-	9	1717	c.1382G>C	c.(1381-1383)gGt>gCt	p.G461A	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G461A|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G407A	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	461					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.G461A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACCAAGGCACCAGCTGCATA	0.338																																						uc002kxc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)GGT>GCT		hypothetical protein LOC22878							71.0	72.0	71.0					18																	29487430		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29487430C>G	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1382G>C	18.37:g.29487430C>G	ENSP00000283351:p.Gly461Ala					KIAA1012_uc002kxb.3_Missense_Mutation_p.G407A|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.G461A	p.G461A	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			9	1746	-			461					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.1382G>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585523	0.46110	.	.	ENSG00000153339	ENST00000283351	T	0.19806	2.12	5.36	5.36	0.76844	.	0.107851	0.64402	D	0.000006	T	0.41766	0.1173	L	0.55990	1.75	0.80722	D	1	P;D	0.76494	0.924;0.999	P;D	0.77557	0.725;0.99	T	0.04723	-1.0931	10	0.29301	T	0.29	.	17.2602	0.87067	0.0:1.0:0.0:0.0	.	461;461	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	A	461	ENSP00000283351:G461A	ENSP00000283351:G461A	G	-	2	0	TRAPPC8	27741428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.427000	0.80284	2.498000	0.84270	0.650000	0.86243	GGT		PASS	0.338	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		6	75	6	75	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324142	31324142	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:31324142C>A	ENST00000269197.5	+	12	4330	c.4330C>A	c.(4330-4332)Cga>Aga	p.R1444R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1444					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.R1444R(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCAGGGCCTCGAAACAGGGC	0.468											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4330-4332)CGA>AGA		additional sex combs like 3							92.0	100.0	98.0					18																	31324142		2041	4200	6241	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324142C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4330C>A	18.37:g.31324142C>A			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Silent_p.R1151R	p.R1444R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4385	+			1444					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4330C>A	CCDS45847.1																																																																																				PASS	0.468	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			5	190	5	190	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31432874	31432874	+	Silent	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:31432874G>T	ENST00000261592.5	-	11	2146	c.1849C>A	c.(1849-1851)Cga>Aga	p.R617R	NOL4_ENST00000269185.4_Silent_p.R401R|NOL4_ENST00000535384.1_Silent_p.R332R|NOL4_ENST00000589544.1_Silent_p.R515R|NOL4_ENST00000538587.1_Silent_p.R543R|NOL4_ENST00000535475.1_Silent_p.R398R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	617						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R617R(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTGATTCTCGATATCCTGCA	0.458																																						uc010dmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1849-1851)CGA>AGA		nucleolar protein 4							137.0	121.0	126.0					18																	31432874		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31432874G>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1849C>A	18.37:g.31432874G>T						NOL4_uc010xbs.1_Silent_p.R332R|NOL4_uc002kxr.3_Silent_p.R389R|NOL4_uc010xbt.1_Silent_p.R543R|NOL4_uc010dmh.2_Silent_p.R479R|NOL4_uc010xbu.1_Silent_p.R553R|NOL4_uc002kxt.3_Silent_p.R515R	p.R617R	NM_003787	NP_003778	O94818	NOL4_HUMAN			11	2078	-			617					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1849C>A	CCDS11907.2																																																																																				PASS	0.458	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		18	41	18	41	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32455336	32455336	+	Missense_Mutation	SNP	G	G	A	rs200805008		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:32455336G>A	ENST00000399113.3	+	17	1796	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	DTNA_ENST00000598142.1_Missense_Mutation_p.G542E|DTNA_ENST00000591182.1_Missense_Mutation_p.G247E|DTNA_ENST00000269192.7_Missense_Mutation_p.G308E|DTNA_ENST00000590831.2_Missense_Mutation_p.G25E|DTNA_ENST00000595022.1_Missense_Mutation_p.G539E|DTNA_ENST00000283365.9_Missense_Mutation_p.G542E|DTNA_ENST00000399121.5_Missense_Mutation_p.G546E|DTNA_ENST00000556414.3_Missense_Mutation_p.G251E|DTNA_ENST00000601125.1_Missense_Mutation_p.G221E|DTNA_ENST00000598334.1_Missense_Mutation_p.G539E|DTNA_ENST00000444659.1_Missense_Mutation_p.G599E|DTNA_ENST00000399097.3_Missense_Mutation_p.G247E|DTNA_ENST00000269190.7_Missense_Mutation_p.G600E			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	599					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G247E(1)|p.G600E(1)|p.G599E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGAGTAGGGGGAGATGTACAA	0.527																																						uc010dmn.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1795-1797)GGA>GAA		dystrobrevin alpha isoform 1							67.0	69.0	68.0					18																	32455336		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32455336G>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1796G>A	18.37:g.32455336G>A	ENSP00000382064:p.Gly599Glu					DTNA_uc002kxw.2_Missense_Mutation_p.G542E|DTNA_uc010dmj.2_Missense_Mutation_p.G539E|DTNA_uc002kxz.2_Missense_Mutation_p.G546E|DTNA_uc002kxy.2_Missense_Mutation_p.G539E|DTNA_uc010xby.1_Missense_Mutation_p.G289E|DTNA_uc010xbz.1_Missense_Mutation_p.G308E|DTNA_uc010xca.1_Missense_Mutation_p.G251E|DTNA_uc002kye.2_Missense_Mutation_p.G247E	p.G599E	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			17	1797	+			599					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1796G>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563902	0.96527	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.24350	1.86;1.94;1.91;1.91	5.52	5.52	0.82312	.	0.103459	0.64402	D	0.000003	T	0.55689	0.1936	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.984;0.99;1.0;0.994;0.982;0.99	D;D;D;P;P;D;P;P;P	0.97110	1.0;0.976;0.998;0.816;0.897;0.999;0.852;0.792;0.897	T	0.52124	-0.8617	10	0.38643	T	0.18	-18.8221	19.7987	0.96497	0.0:0.0:1.0:0.0	.	251;308;289;599;542;247;546;550;542	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	E	542;542;546;600;247;599;599;599;308;247;251	ENSP00000283365:G542E;ENSP00000269190:G600E;ENSP00000405819:G599E;ENSP00000382064:G599E	ENSP00000269190:G600E	G	+	2	0	DTNA	30709334	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.954000	0.87848	2.767000	0.95098	0.655000	0.94253	GGA		PASS	0.527	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		22	10	22	10	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51820157	51820157	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:51820157A>G	ENST00000579534.1	+	10	1686	c.1543A>G	c.(1543-1545)Att>Gtt	p.I515V	POLI_ENST00000406285.3_Missense_Mutation_p.I436V|POLI_ENST00000579434.1_Missense_Mutation_p.I412V|POLI_ENST00000217800.5_Missense_Mutation_p.I389V	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	515					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.I515V(1)|p.I490V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAAAAAGACATTAATGAATT	0.378								DNA polymerases (catalytic subunits)																														uc002lfj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(1543-1545)ATT>GTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							24.0	25.0	24.0					18																	51820157		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51820157A>G		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1543A>G	18.37:g.51820157A>G	ENSP00000462664:p.Ile515Val					POLI_uc010xds.1_Missense_Mutation_p.I436V|POLI_uc002lfk.3_Missense_Mutation_p.I412V|POLI_uc010dpg.2_Missense_Mutation_p.I111V	p.I515V	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	1611	+			515					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.1543A>G	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	A	0.190	-1.054264	0.01965	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.43294	0.95	4.87	1.12	0.20585	.	1.241300	0.05553	N	0.567901	T	0.26955	0.0660	L	0.29908	0.895	0.09310	N	1	B;B	0.23442	0.023;0.085	B;B	0.19666	0.007;0.026	T	0.16867	-1.0388	10	0.02654	T	1	0.4483	7.5318	0.27687	0.7568:0.0:0.2432:0.0	.	435;515	B7Z780;Q9UNA4	.;POLI_HUMAN	V	436;515	ENSP00000385196:I436V	ENSP00000217800:I515V	I	+	1	0	POLI	50074155	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.604000	0.24164	0.104000	0.17725	0.533000	0.62120	ATT		PASS	0.378	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		10	18	10	18	---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52924583	52924583	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:52924583G>A	ENST00000356073.4	-	14	1720	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	TCF4_ENST00000568673.1_Missense_Mutation_p.S346L|TCF4_ENST00000566279.1_Missense_Mutation_p.S310L|TCF4_ENST00000540999.1_Missense_Mutation_p.S346L|TCF4_ENST00000570177.2_Missense_Mutation_p.S240L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000570287.2_Missense_Mutation_p.S210L|TCF4_ENST00000564999.1_Missense_Mutation_p.S370L|TCF4_ENST00000565018.2_Missense_Mutation_p.S370L|TCF4_ENST00000543082.1_Missense_Mutation_p.S328L|TCF4_ENST00000537856.3_Missense_Mutation_p.S240L|TCF4_ENST00000457482.3_Missense_Mutation_p.S210L|TCF4_ENST00000566286.1_Missense_Mutation_p.S367L|TCF4_ENST00000564228.1_Missense_Mutation_p.S299L|TCF4_ENST00000561992.1_Missense_Mutation_p.S240L|TCF4_ENST00000537578.1_Missense_Mutation_p.S346L|TCF4_ENST00000561831.3_Missense_Mutation_p.S210L|TCF4_ENST00000564403.2_Missense_Mutation_p.S376L|TCF4_ENST00000544241.2_Missense_Mutation_p.S299L|TCF4_ENST00000567880.1_Missense_Mutation_p.S310L|TCF4_ENST00000354452.3_Missense_Mutation_p.S370L|TCF4_ENST00000398339.1_Missense_Mutation_p.S472L|TCF4_ENST00000568740.1_Missense_Mutation_p.S345L	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	370					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.S370L(1)|p.S472L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAGACGATGAGGCCTGTCC	0.418																																						uc002lfz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1108-1110)TCA>TTA		transcription factor 4 isoform b							217.0	195.0	203.0					18																	52924583		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52924583G>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1109C>T	18.37:g.52924583G>A	ENSP00000348374:p.Ser370Leu					TCF4_uc002lfw.3_Missense_Mutation_p.S210L|TCF4_uc010xdu.1_Missense_Mutation_p.S240L|TCF4_uc010xdv.1_Missense_Mutation_p.S240L|TCF4_uc002lfx.2_Missense_Mutation_p.S299L|TCF4_uc010xdw.1_Missense_Mutation_p.S240L|TCF4_uc002lfy.2_Missense_Mutation_p.S328L|TCF4_uc010xdx.1_Missense_Mutation_p.S346L|TCF4_uc010dph.1_Missense_Mutation_p.S370L|TCF4_uc010xdy.1_Missense_Mutation_p.S346L|TCF4_uc002lga.2_Missense_Mutation_p.S472L|TCF4_uc002lgb.1_Missense_Mutation_p.S210L|TCF4_uc010dpi.2_Missense_Mutation_p.S376L|TCF4_uc002lfv.2_Missense_Mutation_p.S153L	p.S370L	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	14	1721	-			370					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1109C>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449638	0.84101	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.99	5.99	0.97316	.	0.065513	0.64402	D	0.000006	T	0.50429	0.1615	N	0.24115	0.695	0.80722	D	1	B;B;B;P;B;B;B;B;B	0.42248	0.032;0.321;0.321;0.774;0.172;0.133;0.063;0.06;0.372	B;B;B;P;B;B;B;B;B	0.45913	0.041;0.138;0.098;0.497;0.031;0.041;0.041;0.033;0.053	T	0.52411	-0.8579	10	0.66056	D	0.02	-8.3946	19.2492	0.93917	0.0:0.0:1.0:0.0	.	346;370;210;472;370;328;299;210;367	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	L	370;210;370;328;346;346;299;240;472	ENSP00000346440:S370L;ENSP00000409447:S210L;ENSP00000348374:S370L;ENSP00000439656:S328L;ENSP00000445202:S346L;ENSP00000440731:S346L;ENSP00000441562:S299L;ENSP00000439827:S240L;ENSP00000381382:S472L	ENSP00000346440:S370L	S	-	2	0	TCF4	51075581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.182000	0.94881	2.840000	0.97914	0.655000	0.94253	TCA		PASS	0.418	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		36	51	36	51	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59972682	59972682	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:59972682A>C	ENST00000398130.2	+	29	3798	c.3566A>C	c.(3565-3567)gAt>gCt	p.D1189A	KIAA1468_ENST00000256858.6_Missense_Mutation_p.D1223A	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1189								p.D1189A(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGAGTGAAGATACAAAGACC	0.328																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(3565-3567)GAT>GCT		hypothetical protein LOC57614							133.0	134.0	133.0					18																	59972682		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59972682A>C	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3566A>C	18.37:g.59972682A>C	ENSP00000381198:p.Asp1189Ala					KIAA1468_uc010xel.1_Missense_Mutation_p.D1189A|KIAA1468_uc002lim.2_Missense_Mutation_p.D867A	p.D1189A	NM_020854	NP_065905	Q9P260	K1468_HUMAN			29	3781	+		Colorectal(73;0.186)	1189						Missense_Mutation	SNP	ENST00000398130.2	37	c.3566A>C	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526561	0.64860	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.75371	-0.3341	8	.	.	.	-14.097	15.771	0.78167	1.0:0.0:0.0:0.0	.	1223;1189	Q9P260-2;Q9P260	.;K1468_HUMAN	A	1189;1223	.	.	D	+	2	0	KIAA1468	58123662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.126000	0.65437	0.460000	0.39030	GAT		PASS	0.328	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		20	98	20	98	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72632562	72632562	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:72632562G>T	ENST00000299687.5	+	7	5342	c.5342G>T	c.(5341-5343)gGg>gTg	p.G1781V	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1781V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G1781V(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGTGACTACGGGACCAACGTC	0.493																																						uc002llw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5341-5343)GGG>GTG		zinc finger protein 407 isoform 1							83.0	82.0	83.0					18																	72632562		1986	4175	6161	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72632562G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5342G>T	18.37:g.72632562G>T	ENSP00000299687:p.Gly1781Val					ZNF407_uc010dqu.1_Missense_Mutation_p.G1781V	p.G1781V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	5399	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1781			C2H2-type 22.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5342G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749563	0.69533	.	.	ENSG00000215421	ENST00000299687	T	0.10192	2.9	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000015	T	0.26412	0.0645	L	0.33485	1.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.967;0.98	T	0.02774	-1.1112	10	0.56958	D	0.05	.	18.1016	0.89507	0.0:0.0:1.0:0.0	.	1781;1781	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	V	1781	ENSP00000299687:G1781V	ENSP00000299687:G1781V	G	+	2	0	ZNF407	70761550	1.000000	0.71417	0.008000	0.14137	0.899000	0.52679	4.164000	0.58190	-2.638000	0.00430	0.655000	0.94253	GGG		PASS	0.493	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	35	4	35	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76756945	76756945	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:76756945C>A	ENST00000537592.2	+	3	3526	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	SALL3_ENST00000575389.2_Missense_Mutation_p.L1104M|SALL3_ENST00000536229.3_Missense_Mutation_p.L971M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1176					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1176M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCGCCGCCTGTCTGTGGA	0.617																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3526-3528)CTG>ATG		sal-like 3							29.0	32.0	31.0					18																	76756945		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756945C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3526C>A	18.37:g.76756945C>A	ENSP00000441823:p.Leu1176Met					SALL3_uc010dra.2_Missense_Mutation_p.L711M	p.L1176M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3526	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1176					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3526C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854988	0.32791	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11604	2.76	4.79	4.79	0.61399	.	0.000000	0.47093	D	0.000241	T	0.29093	0.0723	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00956	-1.1501	10	0.72032	D	0.01	-41.4095	12.6614	0.56815	0.0:0.92:0.0:0.08	.	836;1176	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	1176;1104;836	ENSP00000441823:L1176M	ENSP00000299466:L1176M	L	+	1	2	SALL3	74857933	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.875000	0.63072	2.351000	0.79841	0.561000	0.74099	CTG		PASS	0.617	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	15	6	15	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76757113	76757113	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr18:76757113G>A	ENST00000537592.2	+	3	3694	c.3694G>A	c.(3694-3696)Gtc>Atc	p.V1232I	SALL3_ENST00000575389.2_Missense_Mutation_p.V1160I|SALL3_ENST00000536229.3_Missense_Mutation_p.V1027I	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1232					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1232I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGATCTCCGTCATCCAGAA	0.622																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3694-3696)GTC>ATC		sal-like 3							110.0	101.0	104.0					18																	76757113		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757113G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3694G>A	18.37:g.76757113G>A	ENSP00000441823:p.Val1232Ile					SALL3_uc010dra.2_Missense_Mutation_p.V767I	p.V1232I	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3694	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1232					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3694G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960666	0.53400	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.57436	0.4	5.39	5.39	0.77823	.	0.000000	0.51477	D	0.000100	T	0.77532	0.4144	M	0.87900	2.915	0.80722	D	1	P;D	0.89917	0.911;1.0	B;D	0.76575	0.346;0.988	T	0.81437	-0.0933	10	0.72032	D	0.01	-66.6793	19.1739	0.93594	0.0:0.0:1.0:0.0	.	892;1232	F5GXY4;Q9BXA9	.;SALL3_HUMAN	I	1232;1160;892	ENSP00000441823:V1232I	ENSP00000299466:V1232I	V	+	1	0	SALL3	74858101	1.000000	0.71417	0.951000	0.38953	0.890000	0.51754	9.787000	0.99055	2.526000	0.85167	0.561000	0.74099	GTC		PASS	0.622	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		6	71	6	71	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1828009	1828009	+	Missense_Mutation	SNP	C	C	A	rs143118600		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:1828009C>A	ENST00000170168.4	-	2	873	c.779G>T	c.(778-780)cGg>cTg	p.R260L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	260						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.R260L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGAGCCCCGGGGCCGCTT	0.652																																						uc002lua.3																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)CGG>CTG		transcription elongation factor B polypeptide 3							18.0	25.0	22.0					19																	1828009		2197	4298	6495	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828009C>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.779G>T	19.37:g.1828009C>A	ENSP00000170168:p.Arg260Leu					REXO1_uc010dsr.1_Missense_Mutation_p.R214L	p.R260L	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	874	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	260					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.779G>T	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199185	0.38806	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.15017	2.46	4.13	3.1	0.35709	.	0.836680	0.10316	N	0.689336	T	0.31638	0.0803	M	0.74258	2.255	0.09310	N	1	D;P	0.57571	0.98;0.919	P;B	0.51487	0.671;0.442	T	0.12142	-1.0559	10	0.62326	D	0.03	-28.4863	10.8815	0.46942	0.0:0.9079:0.0:0.0921	.	214;260	F5H016;Q8N1G1	.;REXO1_HUMAN	L	260;214	ENSP00000170168:R260L	ENSP00000170168:R260L	R	-	2	0	REXO1	1779009	0.009000	0.17119	0.788000	0.31933	0.017000	0.09413	1.682000	0.37628	0.955000	0.37878	0.561000	0.74099	CGG		PASS	0.652	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		4	9	4	9	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7125485	7125485	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:7125485T>C	ENST00000302850.5	-	17	3209	c.3067A>G	c.(3067-3069)Atc>Gtc	p.I1023V	INSR_ENST00000341500.5_Missense_Mutation_p.I1011V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1023	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> F. {ECO:0000269|PubMed:8890729}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.I1023V(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGGAGGGTGATCTTCTCTCGA	0.577																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12	GRCh37	CM962642	INSR	M		c.(3067-3069)ATC>GTC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						118.0	95.0	103.0					19																	7125485		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7125485T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3067A>G	19.37:g.7125485T>C	ENSP00000303830:p.Ile1023Val					INSR_uc002mge.1_Missense_Mutation_p.I1011V	p.I1023V	NM_000208	NP_000199	P06213	INSR_HUMAN			17	3176	-			1023		I -> F.	Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3067A>G	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488756	0.84962	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89050	-2.46;-2.46	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000268	D	0.88058	0.6335	L	0.43923	1.385	0.80722	D	1	P;P	0.47034	0.865;0.889	P;P	0.49085	0.543;0.6	D	0.88536	0.3106	10	0.54805	T	0.06	.	12.8032	0.57598	0.0:0.0:0.0:1.0	.	1011;1023	P06213-2;P06213	.;INSR_HUMAN	V	1023;1011	ENSP00000303830:I1023V;ENSP00000342838:I1011V	ENSP00000303830:I1023V	I	-	1	0	INSR	7076485	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.805000	0.69143	2.131000	0.65755	0.533000	0.62120	ATC		PASS	0.577	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	32	13	32	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7675433	7675433	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:7675433G>A	ENST00000160298.4	+	6	933	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A305T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	278	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.A305T(2)|p.A278T(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGATTTCTGTGCCTCTCGCCT	0.632																																						uc002mgv.3																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(832-834)GCC>ACC		NEZHA isoform 2							124.0	140.0	135.0					19																	7675433		2127	4228	6355	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7675433G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.832G>A	19.37:g.7675433G>A	ENSP00000160298:p.Ala278Thr					KIAA1543_uc002mgu.3_Missense_Mutation_p.A305T	p.A278T	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			6	933	+			278			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.832G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	10.97	1.501312	0.26861	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14144	2.53;2.54	5.3	5.3	0.74995	Calponin homology domain (2);	0.056762	0.64402	D	0.000002	T	0.19446	0.0467	L	0.41236	1.265	0.29034	N	0.885524	P;D	0.56035	0.877;0.974	P;P	0.50659	0.472;0.647	T	0.03077	-1.1075	10	0.27785	T	0.31	-18.4571	16.4273	0.83818	0.0:0.0:1.0:0.0	.	278;305	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	T	305;278	ENSP00000416797:A305T;ENSP00000160298:A278T	ENSP00000160298:A278T	A	+	1	0	KIAA1543	7581433	0.885000	0.30320	0.998000	0.56505	0.373000	0.29922	2.564000	0.45931	2.468000	0.83385	0.643000	0.83706	GCC		PASS	0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		16	54	16	54	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065831	9065831	+	Silent	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:9065831T>A	ENST00000397910.4	-	3	21818	c.21615A>T	c.(21613-21615)acA>acT	p.T7205T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7207	Ser-rich.|Thr-rich.				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.T7205T(2)|p.T2838T(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						TGGCTTTGGATGTCTCTGAGT	0.488																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21613-21615)ACA>ACT		mucin 16							226.0	215.0	218.0					19																	9065831		2086	4220	6306	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065831T>A	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.21615A>T	19.37:g.9065831T>A							p.T7205T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21819	-			7207			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21615A>T	CCDS54212.1																																																																																				PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	78	22	78	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071159	9071159	+	Silent	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:9071159A>T	ENST00000397910.4	-	3	16490	c.16287T>A	c.(16285-16287)acT>acA	p.T5429T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5431	Thr-rich.				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.T5429T(2)|p.T1062T(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						CAGACCCGGAAGTCCCTACAT	0.527																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16285-16287)ACT>ACA		mucin 16							353.0	336.0	342.0					19																	9071159		2099	4224	6323	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071159A>T	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.16287T>A	19.37:g.9071159A>T							p.T5429T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16491	-			5431			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16287T>A	CCDS54212.1																																																																																				PASS	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		50	173	50	173	---	---	---	---
OR7G3	390883	broad.mit.edu	37	19	9237355	9237355	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:9237355G>T	ENST00000305444.2	-	1	271	c.272C>A	c.(271-273)tCc>tAc	p.S91Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S91Y(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTAATTGATGGATTGAGCCTG	0.483																																						uc010xkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)TCC>TAC		olfactory receptor, family 7, subfamily G,							155.0	131.0	139.0					19																	9237355		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237355G>T		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.272C>A	19.37:g.9237355G>T	ENSP00000302867:p.Ser91Tyr						p.S91Y	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			1	272	-			91			Extracellular (Potential).		Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.272C>A	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	6.647	0.487895	0.12641	.	.	ENSG00000170920	ENST00000305444	T	0.00605	6.27	3.96	-4.75	0.03239	GPCR, rhodopsin-like superfamily (1);	0.611757	0.13358	U	0.393842	T	0.00524	0.0017	M	0.80847	2.515	0.09310	N	1	P	0.42248	0.774	B	0.32211	0.142	T	0.42949	-0.9421	10	0.26408	T	0.33	.	1.1312	0.01746	0.3173:0.2549:0.2974:0.1303	.	91	Q8NG95	OR7G3_HUMAN	Y	91	ENSP00000302867:S91Y	ENSP00000302867:S91Y	S	-	2	0	OR7G3	9098355	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.402000	0.00483	-0.789000	0.04498	-0.272000	0.10252	TCC		PASS	0.483	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			30	53	30	53	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10251824	10251824	+	Missense_Mutation	SNP	G	G	T	rs534263445	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:10251824G>T	ENST00000340748.4	-	30	3538	c.3303C>A	c.(3301-3303)aaC>aaA	p.N1101K	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.N1117K|DNMT1_ENST00000540357.1_Missense_Mutation_p.N1101K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1101					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.N1101K(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TACGGGCATGGTTGGGAGGAT	0.468																																						uc002mng.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3301-3303)AAC>AAA		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						182.0	170.0	174.0					19																	10251824		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251824G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3303C>A	19.37:g.10251824G>T	ENSP00000345739:p.Asn1101Lys					DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.N25K|DNMT1_uc010xlc.1_Missense_Mutation_p.N1117K|DNMT1_uc002mnh.2_Missense_Mutation_p.N996K|DNMT1_uc010xld.1_Missense_Mutation_p.N1101K	p.N1101K	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		30	3483	-			1101					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3303C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559782	0.45590	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.22743	1.94;1.94;1.94	5.38	-1.73	0.08081	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	M	0.73598	2.24	0.44816	D	0.997823	P;P;B	0.36959	0.575;0.575;0.439	B;B;B	0.39876	0.312;0.219;0.165	T	0.15694	-1.0428	10	0.16896	T	0.51	.	10.2715	0.43485	0.5041:0.0:0.4959:0.0	.	1101;1117;1101	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	K	1117;1101;1101;969	ENSP00000352516:N1117K;ENSP00000440457:N1101K;ENSP00000345739:N1101K	ENSP00000345739:N1101K	N	-	3	2	DNMT1	10112824	1.000000	0.71417	0.756000	0.31282	0.970000	0.65996	2.156000	0.42310	0.021000	0.15133	-0.136000	0.14681	AAC		PASS	0.468	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		11	69	11	69	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10477140	10477140	+	Silent	SNP	G	G	T	rs147934502		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:10477140G>T	ENST00000525621.1	-	6	1063	c.582C>A	c.(580-582)ctC>ctA	p.L194L	TYK2_ENST00000529370.1_Silent_p.L194L|TYK2_ENST00000524462.1_Silent_p.L9L|TYK2_ENST00000264818.6_Silent_p.L194L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	194	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L194L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGCGGAGAGCGAGGTGACAGA	0.597																																						uc002moc.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(580-582)CTC>CTA		tyrosine kinase 2							123.0	112.0	116.0					19																	10477140		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10477140G>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.582C>A	19.37:g.10477140G>T						TYK2_uc010dxe.2_Silent_p.L9L|TYK2_uc002mod.2_Silent_p.L194L	p.L194L	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		6	960	-			194			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.582C>A	CCDS12236.1																																																																																				PASS	0.597	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			4	70	4	70	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15484801	15484801	+	Missense_Mutation	SNP	G	G	C	rs369396055		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:15484801G>C	ENST00000269701.2	-	4	227	c.167C>G	c.(166-168)gCc>gGc	p.A56G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	56					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A56G(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CTCCCACGAGGCTGGGCCGTA	0.622																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(166-168)GCC>GGC		A-kinase anchor protein 8							44.0	49.0	47.0					19																	15484801		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15484801G>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.167C>G	19.37:g.15484801G>C	ENSP00000269701:p.Ala56Gly					AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron	p.A56G	NM_005858	NP_005849	O43823	AKAP8_HUMAN			4	228	-			56						Missense_Mutation	SNP	ENST00000269701.2	37	c.167C>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138959	0.37728	.	.	ENSG00000105127	ENST00000269701	T	0.57273	0.41	5.33	4.27	0.50696	.	0.372050	0.23118	N	0.051729	T	0.44953	0.1318	L	0.40543	1.245	0.80722	D	1	B	0.32573	0.376	B	0.32149	0.141	T	0.47674	-0.9099	10	0.72032	D	0.01	-8.9099	13.1265	0.59358	0.0:0.1614:0.8386:0.0	.	56	O43823	AKAP8_HUMAN	G	56	ENSP00000269701:A56G	ENSP00000269701:A56G	A	-	2	0	AKAP8	15345801	0.923000	0.31300	0.961000	0.40146	0.306000	0.27790	4.548000	0.60718	1.220000	0.43490	0.650000	0.86243	GCC		PASS	0.622	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		8	69	8	69	---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18186641	18186641	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:18186641C>A	ENST00000600835.2	-	8	916	c.618G>T	c.(616-618)caG>caT	p.Q206H	IL12RB1_ENST00000593993.2_Missense_Mutation_p.Q206H|IL12RB1_ENST00000322153.7_Missense_Mutation_p.Q206H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	206	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.Q206H(2)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCTGGAATTCCTGGGCCACAT	0.592																																						uc002nhw.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(616-618)CAG>CAT		interleukin 12 receptor, beta 1 isoform 1							58.0	63.0	62.0					19																	18186641		2203	4300	6503	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18186641C>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.618G>T	19.37:g.18186641C>A	ENSP00000470788:p.Gln206His					IL12RB1_uc010xqb.1_Missense_Mutation_p.Q206H|IL12RB1_uc002nhx.1_Missense_Mutation_p.Q246H|IL12RB1_uc002nhy.2_Missense_Mutation_p.Q206H	p.Q206H	NM_005535	NP_005526	P42701	I12R1_HUMAN			7	682	-			206			Extracellular (Potential).|Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.618G>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932791	0.34096	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.85411	-1.48;-1.98	4.49	0.707	0.18139	Immunoglobulin-like fold (1);	1.095130	0.07139	N	0.846964	D	0.85678	0.5752	M	0.65975	2.015	0.09310	N	0.999995	P;D;P	0.64830	0.865;0.994;0.787	P;P;P	0.56865	0.763;0.808;0.584	T	0.70270	-0.4918	10	0.16420	T	0.52	-8.7482	1.4694	0.02412	0.2807:0.4181:0.1745:0.1266	.	206;206;206	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	H	206	ENSP00000403103:Q206H;ENSP00000314425:Q206H	ENSP00000314425:Q206H	Q	-	3	2	IL12RB1	18047641	0.918000	0.31147	0.132000	0.22025	0.040000	0.13550	0.141000	0.16076	0.290000	0.22444	0.543000	0.68304	CAG		PASS	0.592	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			4	38	4	38	---	---	---	---
CERS1	10715	broad.mit.edu	37	19	18995020	18995020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:18995020C>A	ENST00000427170.2	-	3	537	c.466G>T	c.(466-468)Gga>Tga	p.G156*	CERS1_ENST00000542296.2_Nonsense_Mutation_p.G58*|CERS1_ENST00000429504.2_Nonsense_Mutation_p.G156*|GDF1_ENST00000247005.6_5'UTR|AC005197.2_ENST00000597769.1_RNA	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	156	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)	p.G156*(2)		endometrium(3)|lung(2)	5						TAGAAGCTTCCCTGGAGCAGG	0.607																																						uc002nki.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(466-468)GGA>TGA		LAG1 homolog, ceramide synthase 1 isoform 1							74.0	89.0	84.0					19																	18995020		2143	4260	6403	SO:0001587	stop_gained	2657				growth	extracellular space	cytokine activity|growth factor activity	g.chr19:18995020C>A	AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.466G>T	19.37:g.18995020C>A	ENSP00000402697:p.Gly156*					LASS1_uc002nkj.2_Nonsense_Mutation_p.G156*|LASS1_uc010ebx.2_Nonsense_Mutation_p.G58*	p.G156*	NM_021267	NP_067090	P27539	GDF1_HUMAN			3	538	-			Error:Variant_position_missing_in_P27539_after_alignment						Nonsense_Mutation	SNP	ENST00000427170.2	37	c.466G>T	CCDS46020.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586287	0.86851	.	.	ENSG00000223802	ENST00000427170;ENST00000429504;ENST00000542296	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.1711	0.48571	0.1846:0.8154:0.0:0.0	.	.	.	.	X	156;156;58	.	ENSP00000402697:G156X	G	-	1	0	CERS1	18856020	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	2.319000	0.43788	1.843000	0.53566	0.313000	0.20887	GGA		PASS	0.607	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	17	4	17	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19338799	19338800	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:19338799_19338800GG>CT	ENST00000252575.6	+	8	2469_2470	c.2370_2371GG>CT	c.(2368-2373)ctGGat>ctCTat	p.D791Y	NCAN_ENST00000538881.1_Missense_Mutation_p.D242Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	791					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L804L(2)|p.D805Y(2)|p.L790L(2)|p.D791Y(2)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCAAAGGGCTGGATGCAAGTTC	0.579																																						uc002nlz.2																			8	Substitution - Missense(4)|Substitution - coding silent(4)		lung(8)	ovary(4)	4						c.(2368-2370)CTG>CTC|c.(2371-2373)GAT>TAT		chondroitin sulfate proteoglycan 3 precursor																																				SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338799G>C|g.chr19:19338800G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		Exception_encountered	19.37:g.19338799_19338800delinsCT	ENSP00000252575:p.Asp791Tyr					NCAN_uc010ecc.1_Silent_p.L354L|NCAN_uc010ecc.1_Missense_Mutation_p.D355Y	p.L790L|p.D791Y	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2469|2470	+			790|791					Q9UPK6	Silent|Missense_Mutation	SNP	ENST00000252575.6	37	c.2370G>C|c.2371G>T	CCDS12397.1																																																																																				PASS	0.579	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		46|44	23	44	23	---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20003536	20003536	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:20003536C>A	ENST00000589717.1	+	4	1572	c.1480C>A	c.(1480-1482)Ctt>Att	p.L494I	ZNF253_ENST00000355650.4_Missense_Mutation_p.L418I|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	494					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L466I(1)|p.L494I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTCCTCCACTTTTAATTAG	0.343																																						uc002noj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1480-1482)CTT>ATT		zinc finger protein 253							59.0	68.0	65.0					19																	20003536		2060	4233	6293	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20003536C>A	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1480C>A	19.37:g.20003536C>A	ENSP00000468720:p.Leu494Ile					ZNF253_uc002nok.2_Missense_Mutation_p.L418I|ZNF253_uc002nol.2_RNA	p.L494I	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1572	+			494					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.1480C>A	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	0.667	-0.803486	0.02841	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.819	-1.64	0.08318	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.25987	0.065	T	0.32508	-0.9904	7	.	.	.	.	2.9567	0.05878	0.4888:0.5111:0.0:0.0	.	494	O75346	ZN253_HUMAN	I	494	.	.	L	+	1	0	ZNF253	19864536	0.000000	0.05858	0.293000	0.24932	0.291000	0.27294	-5.035000	0.00158	0.191000	0.20236	0.194000	0.17425	CTT		PASS	0.343	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		9	69	9	69	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21990988	21990988	+	Silent	SNP	A	A	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:21990988A>T	ENST00000354959.4	-	4	2020	c.1851T>A	c.(1849-1851)acT>acA	p.T617T	ZNF43_ENST00000595461.1_Silent_p.T611T|ZNF43_ENST00000598381.1_Silent_p.T611T|ZNF43_ENST00000594012.1_Silent_p.T611T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	617					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.T617T(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTTCCTCCAGTATGAATTT	0.338																																						uc002nqj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1849-1851)ACT>ACA		zinc finger protein 43							49.0	51.0	50.0					19																	21990988		2203	4296	6499	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990988A>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1851T>A	19.37:g.21990988A>T						ZNF43_uc010ecv.2_Silent_p.T611T|ZNF43_uc002nql.2_Silent_p.T611T|ZNF43_uc002nqm.2_Silent_p.T611T|ZNF43_uc002nqk.2_Silent_p.T547T	p.T617T	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1981	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	617					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1851T>A	CCDS12413.2																																																																																				PASS	0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		5	78	5	78	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154213	22154213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:22154213C>T	ENST00000397126.4	-	4	3771	c.3623G>A	c.(3622-3624)tGg>tAg	p.W1208*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.W1080L(2)|p.W1080*(2)|p.W1208L(1)|p.W1208*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTGAGGGCCACTTATAGGC	0.393																																						uc002nqp.2																			6	Substitution - Nonsense(3)|Substitution - Missense(3)		lung(6)	ovary(5)|skin(2)	7						c.(3238-3240)TGG>TAG		zinc finger protein 208							35.0	38.0	37.0					19																	22154213		2105	4239	6344	SO:0001587	stop_gained	7757							g.chr19:22154213C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3623G>A	19.37:g.22154213C>T	ENSP00000380315:p.Trp1208*					ZNF208_uc002nqo.1_Intron	p.W1080*	NM_007153	NP_009084					6	3388	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.3239G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	37	6.591283	0.97688	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	3.22	-4.51	0.03483	.	.	.	.	.	.	.	.	.	.	.	0.39645	D	0.97037	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.6795	0.12727	0.2982:0.4893:0.0:0.2125	.	.	.	.	X	1208;1080	.	ENSP00000380315:W1208X	W	-	2	0	ZNF208	21946053	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.457000	0.21875	-0.850000	0.04152	0.298000	0.19748	TGG		PASS	0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		82	60	82	60	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22362957	22362957	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:22362957G>T	ENST00000397121.2	-	3	1879	c.1562C>A	c.(1561-1563)aCt>aAt	p.T521N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	521					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.T521N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTATGTTCAGTAAGGATCGA	0.398																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1561-1563)ACT>AAT		zinc finger protein 676							61.0	65.0	64.0					19																	22362957		2149	4268	6417	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362957G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1562C>A	19.37:g.22362957G>T	ENSP00000380310:p.Thr521Asn						p.T521N	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1880	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	521			C2H2-type 13.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1562C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.809	-0.247403	0.05867	.	.	ENSG00000196109	ENST00000397121	T	0.07327	3.2	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	N	0.21324	0.655	0.09310	N	1	B	0.32918	0.39	B	0.30401	0.115	T	0.38929	-0.9638	9	0.44086	T	0.13	.	2.9445	0.05841	0.0:0.2939:0.412:0.294	.	521	Q8N7Q3	ZN676_HUMAN	N	521	ENSP00000380310:T521N	ENSP00000380310:T521N	T	-	2	0	ZNF676	22154797	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-1.152000	0.03172	0.181000	0.19994	0.184000	0.17185	ACT		PASS	0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	184	8	184	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23542365	23542365	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:23542365C>G	ENST00000300619.7	-	4	3621	c.3416G>C	c.(3415-3417)tGt>tCt	p.C1139S	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.C1107S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1139					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C1139S(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTTGCCACATTTTTCACA	0.413																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3415-3417)TGT>TCT		zinc finger protein 91							56.0	64.0	61.0					19																	23542365		2170	4278	6448	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542365C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3416G>C	19.37:g.23542365C>G	ENSP00000300619:p.Cys1139Ser					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.C1107S	p.C1139S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	3529	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1139			C2H2-type 36.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3416G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200375	0.38905	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	D;D	0.85861	-2.04;-2.04	0.687	0.687	0.18020	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92974	0.7764	H	0.94964	3.605	0.32120	N	0.588093	D;D	0.89917	0.998;1.0	D;D	0.74674	0.928;0.984	D	0.90685	0.4608	9	0.72032	D	0.01	.	8.8628	0.35267	0.0:1.0:0.0:0.0	.	1107;1139	Q05481-2;Q05481	.;ZNF91_HUMAN	S	1139;1107	ENSP00000300619:C1139S;ENSP00000380272:C1107S	ENSP00000300619:C1139S	C	-	2	0	ZNF91	23334205	1.000000	0.71417	0.051000	0.19133	0.401000	0.30781	2.727000	0.47311	0.645000	0.30675	0.196000	0.17591	TGT		PASS	0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		15	29	15	29	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935497	30935497	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:30935497A>G	ENST00000355537.3	+	2	1175	c.1028A>G	c.(1027-1029)aAc>aGc	p.N343S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	343					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.N343S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGTCGGCCAACGAGTTCCGC	0.647																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1027-1029)AAC>AGC		zinc finger protein 536							88.0	100.0	96.0					19																	30935497		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935497A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1028A>G	19.37:g.30935497A>G	ENSP00000347730:p.Asn343Ser					ZNF536_uc010edd.1_Missense_Mutation_p.N343S	p.N343S	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1166	+	Esophageal squamous(110;0.0834)		343					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1028A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	0.307	-0.970177	0.02232	.	.	ENSG00000198597	ENST00000355537	T	0.08102	3.13	5.59	5.59	0.84812	.	0.097811	0.64402	D	0.000002	T	0.08088	0.0202	L	0.38175	1.15	0.36252	D	0.853947	B;B	0.18461	0.01;0.028	B;B	0.16289	0.005;0.015	T	0.12041	-1.0563	10	0.51188	T	0.08	-29.3657	10.15	0.42786	0.9253:0.0:0.0747:0.0	.	343;343	A7E228;O15090	.;ZN536_HUMAN	S	343	ENSP00000347730:N343S	ENSP00000347730:N343S	N	+	2	0	ZNF536	35627337	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	3.538000	0.53597	2.125000	0.65367	0.402000	0.26972	AAC		PASS	0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	101	11	101	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935825	30935825	+	Silent	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:30935825C>G	ENST00000355537.3	+	2	1503	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	452					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L452L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCAGCCAGCTCTATGGCAAGG	0.657																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1354-1356)CTC>CTG		zinc finger protein 536							26.0	29.0	28.0					19																	30935825		2202	4295	6497	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935825C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1356C>G	19.37:g.30935825C>G						ZNF536_uc010edd.1_Silent_p.L452L	p.L452L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1494	+	Esophageal squamous(110;0.0834)		452					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1356C>G	CCDS32984.1																																																																																				PASS	0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	21	5	21	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039661	31039661	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:31039661C>T	ENST00000355537.3	+	4	3282	c.3135C>T	c.(3133-3135)gcC>gcT	p.A1045A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1045					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A1045A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGACCAAGCCCGGGAGGCGA	0.537																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3133-3135)GCC>GCT		zinc finger protein 536							81.0	74.0	76.0					19																	31039661		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039661C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3135C>T	19.37:g.31039661C>T						ZNF536_uc010edd.1_Silent_p.A1045A	p.A1045A	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3273	+	Esophageal squamous(110;0.0834)		1045					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3135C>T	CCDS32984.1																																																																																				PASS	0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		15	44	15	44	---	---	---	---
FXYD1	5348	broad.mit.edu	37	19	35630999	35630999	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:35630999C>A	ENST00000588081.1	+	1	74	c.16C>A	c.(16-18)Cac>Aac	p.H6N	FXYD1_ENST00000588607.1_Missense_Mutation_p.H6N|FXYD1_ENST00000588715.1_Missense_Mutation_p.H6N|CTD-2527I21.4_ENST00000592174.1_RNA|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000589209.1_Missense_Mutation_p.H6N|FXYD1_ENST00000455515.2_Missense_Mutation_p.H6N|FXYD1_ENST00000351325.4_Missense_Mutation_p.H6N			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	6					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.H6N(1)		lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCTCTTGGCCACATCTTGGT	0.612																																						uc002nyc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CAC>AAC		phospholemman precursor							163.0	116.0	132.0					19																	35630999		2203	4300	6503	SO:0001583	missense	5348				muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35630999C>A		CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.16C>A	19.37:g.35630999C>A	ENSP00000467727:p.His6Asn					LGI4_uc002nxy.1_Intron|FXYD1_uc002nyb.1_RNA|FXYD1_uc002nyd.2_Missense_Mutation_p.H6N	p.H6N	NM_021902	NP_068702	O00168	PLM_HUMAN	Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	87	+	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		6					A8K196	Missense_Mutation	SNP	ENST00000588081.1	37	c.16C>A	CCDS12445.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365216	0.24684	.	.	ENSG00000221857	ENST00000351325;ENST00000455515	T;T	0.63255	-0.03;-0.03	4.13	1.89	0.25635	.	0.364321	0.22087	N	0.064805	T	0.46964	0.1420	.	.	.	0.80722	D	1	B	0.22003	0.063	B	0.14578	0.011	T	0.37033	-0.9723	9	0.51188	T	0.08	-9.3753	5.6614	0.17670	0.0:0.6897:0.1999:0.1104	.	6	O00168	PLM_HUMAN	N	6	ENSP00000343314:H6N;ENSP00000393611:H6N	ENSP00000343314:H6N	H	+	1	0	FXYD1	40322839	0.002000	0.14202	0.060000	0.19600	0.870000	0.49936	0.926000	0.28804	0.479000	0.27511	0.579000	0.79373	CAC		PASS	0.612	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1	NM_021902		24	26	24	26	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36218350	36218350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:36218350G>T	ENST00000222270.7	+	16	4129	c.4129G>T	c.(4129-4131)Gag>Tag	p.E1377*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.E1377*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1377					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E1379*(1)									TGAAGACTACGAGATCCTTTC	0.622																																						uc010eei.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4129-4131)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 4							103.0	105.0	104.0					19																	36218350		1972	4143	6115	SO:0001587	stop_gained	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36218350G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4129G>T	19.37:g.36218350G>T	ENSP00000222270:p.Glu1377*						p.E1377*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	4129	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1377			PHD-type 3.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.4129G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	43	10.188351	0.99355	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.29	5.29	0.74685	.	0.000000	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.8622	0.88784	0.0:0.0:1.0:0.0	.	.	.	.	X	1377	.	ENSP00000222270:E1377X	E	+	1	0	AD000671.1	40910190	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	8.600000	0.90860	2.759000	0.94783	0.549000	0.68633	GAG		PASS	0.622	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	211	6	211	---	---	---	---
TYROBP	7305	broad.mit.edu	37	19	36398473	36398473	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:36398473C>A	ENST00000262629.4	-	3	170	c.104G>T	c.(103-105)tGc>tTc	p.C35F	TYROBP_ENST00000424586.3_Missense_Mutation_p.C24F|TYROBP_ENST00000589517.1_Missense_Mutation_p.C35F|TYROBP_ENST00000585901.2_Missense_Mutation_p.C35F|TYROBP_ENST00000544690.2_Missense_Mutation_p.C24F	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	35					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.C35F(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACCGTAGAGCAACTGCAATC	0.642																																						uc002ocm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TGC>TTC		TYRO protein tyrosine kinase binding protein							38.0	38.0	38.0					19																	36398473		2203	4300	6503	SO:0001583	missense	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36398473C>A	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.104G>T	19.37:g.36398473C>A	ENSP00000262629:p.Cys35Phe					TYROBP_uc002ocn.2_Missense_Mutation_p.C35F	p.C35F	NM_003332	NP_003323	O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	160	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		35			Extracellular (Potential).		A8K2X0|F5H389|Q6FGA5|Q9UMT3	Missense_Mutation	SNP	ENST00000262629.4	37	c.104G>T	CCDS12482.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860527	0.51482	.	.	ENSG00000011600	ENST00000262629;ENST00000424586;ENST00000544690	D;D	0.86432	-2.12;-2.12	5.15	4.07	0.47477	.	0.000000	0.56097	D	0.000022	D	0.92394	0.7586	M	0.77103	2.36	0.23598	N	0.997324	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.85034	0.0919	10	0.87932	D	0	-18.8599	11.8052	0.52150	0.0:0.8244:0.1756:0.0	.	35;35	O43914-2;O43914	.;TYOBP_HUMAN	F	35;35;24	ENSP00000262629:C35F;ENSP00000445332:C24F	ENSP00000262629:C35F	C	-	2	0	TYROBP	41090313	0.891000	0.30450	0.135000	0.22099	0.061000	0.15899	4.077000	0.57598	2.391000	0.81399	0.591000	0.81541	TGC		PASS	0.642	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			10	23	10	23	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37130589	37130589	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:37130589C>G	ENST00000588268.1	-	6	885	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	ZNF461_ENST00000360357.4_Missense_Mutation_p.E197Q|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	220					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.E220Q(1)|p.E93Q(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATTCAGAAAGTTCT	0.299																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(658-660)GAA>CAA		gonadotropin inducible transcription repressor							65.0	65.0	65.0					19																	37130589		1844	4096	5940	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130589C>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.658G>C	19.37:g.37130589C>G	ENSP00000467931:p.Glu220Gln					ZNF461_uc002oen.2_Missense_Mutation_p.E189Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E197Q	p.E220Q	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	886	-	Esophageal squamous(110;0.198)		220					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.658G>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	8.866	0.948095	0.18356	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605	T	0.42900	0.96	3.73	1.54	0.23209	.	.	.	.	.	T	0.25344	0.0616	L	0.31476	0.935	0.09310	N	1	B;B;B	0.33073	0.089;0.396;0.396	B;B;B	0.26517	0.07;0.07;0.07	T	0.15665	-1.0429	9	0.56958	D	0.05	.	4.6409	0.12548	0.1743:0.6216:0.0:0.2042	.	197;142;220	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	Q	220;197;93	ENSP00000353515:E197Q	ENSP00000353515:E197Q	E	-	1	0	ZNF461	41822429	0.000000	0.05858	0.102000	0.21198	0.678000	0.39670	-1.510000	0.02262	0.342000	0.23796	0.591000	0.81541	GAA		PASS	0.299	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		29	42	29	42	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37149309	37149309	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:37149309C>A	ENST00000588268.1	-	3	255	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	ZNF461_ENST00000360357.4_Missense_Mutation_p.D10Y	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D10Y(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATAGCCACATCTCTGAACATC	0.363																																						uc002oem.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GAT>TAT		gonadotropin inducible transcription repressor							50.0	47.0	48.0					19																	37149309		2099	4258	6357	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37149309C>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.28G>T	19.37:g.37149309C>A	ENSP00000467931:p.Asp10Tyr					ZNF461_uc002oen.2_5'UTR|ZNF461_uc010xtj.1_Missense_Mutation_p.D10Y	p.D10Y	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	256	-	Esophageal squamous(110;0.198)		10			KRAB.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.28G>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968035	0.53507	.	.	ENSG00000197808	ENST00000396893;ENST00000360357	T;T	0.12039	2.72;2.72	3.35	3.35	0.38373	Krueppel-associated box (4);	.	.	.	.	T	0.56277	0.1974	H	0.99752	4.75	0.27820	N	0.941828	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61332	-0.7084	9	0.87932	D	0	.	10.3658	0.44024	0.0:1.0:0.0:0.0	.	10;10	B4DRP8;Q8TAF7	.;ZN461_HUMAN	Y	10	ENSP00000380102:D10Y;ENSP00000353515:D10Y	ENSP00000353515:D10Y	D	-	1	0	ZNF461	41841149	0.947000	0.32204	1.000000	0.80357	0.987000	0.75469	1.024000	0.30077	1.865000	0.54081	0.585000	0.79938	GAT		PASS	0.363	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		6	35	6	35	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37643905	37643905	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:37643905T>A	ENST00000356958.4	-	5	1154	c.896A>T	c.(895-897)gAg>gTg	p.E299V	ZNF585A_ENST00000392157.2_Missense_Mutation_p.E244V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E244V|ZNF585A_ENST00000355533.2_Missense_Mutation_p.E244V|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	299					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.E244V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTACTGCACTCATATGGTTT	0.438																																						uc002ofo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(895-897)GAG>GTG		zinc finger protein 585A							260.0	236.0	244.0					19																	37643905		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643905T>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.896A>T	19.37:g.37643905T>A	ENSP00000349440:p.Glu299Val					ZNF585A_uc002ofm.1_Missense_Mutation_p.E244V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E244V	p.E299V	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1127	-			299			C2H2-type 6.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.896A>T		.	.	.	.	.	.	.	.	.	.	T	7.511	0.654580	0.14580	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.21361	3.17;3.17;3.17;2.01	3.28	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.022260	0.07874	N	0.968393	T	0.11410	0.0278	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.32079	-0.9920	10	0.56958	D	0.05	.	7.6211	0.28185	0.0:0.0:0.4286:0.5714	.	299	Q6P3V2	Z585A_HUMAN	V	299;244;244;244	ENSP00000349440:E299V;ENSP00000292841:E244V;ENSP00000375998:E244V;ENSP00000347724:E244V	ENSP00000292841:E244V	E	-	2	0	ZNF585A	42335745	0.000000	0.05858	0.050000	0.19076	0.009000	0.06853	-0.676000	0.05221	0.414000	0.25790	0.459000	0.35465	GAG		PASS	0.438	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		120	99	120	99	---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52443504	52443504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:52443504G>T	ENST00000293471.6	+	4	737	c.58G>T	c.(58-60)Gag>Tag	p.E20*	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E20*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTTCACTTGGGAGGAGTGGCA	0.498																																						uc002pxz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(58-60)GAG>TAG		zinc finger protein 613 isoform 1							128.0	124.0	125.0					19																	52443504		2203	4300	6503	SO:0001587	stop_gained	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443504G>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.58G>T	19.37:g.52443504G>T	ENSP00000293471:p.Glu20*					ZNF613_uc002pya.1_5'UTR	p.E20*	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	4	481	+		all_neural(266;0.117)	20			KRAB.		Q96SS9	Nonsense_Mutation	SNP	ENST00000293471.6	37	c.58G>T	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	39	7.851626	0.98525	.	.	ENSG00000176024	ENST00000293471	.	.	.	3.32	3.32	0.38043	.	0.000000	0.36482	N	0.002575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.0854	0.53693	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000293471:E20X	E	+	1	0	ZNF613	57135316	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	2.105000	0.41825	1.879000	0.54435	0.650000	0.86243	GAG		PASS	0.498	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		6	116	6	116	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53989949	53989949	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:53989949C>T	ENST00000396403.4	+	3	207	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ZNF813_ENST00000396421.4_Missense_Mutation_p.P27S	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P27S(2)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGCCTGGACCCTGCTCAGAG	0.483																																						uc002qbu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(79-81)CCT>TCT		zinc finger protein 813							58.0	65.0	63.0					19																	53989949		2195	4259	6454	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53989949C>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.79C>T	19.37:g.53989949C>T	ENSP00000379684:p.Pro27Ser					ZNF813_uc010eqq.1_RNA	p.P27S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	3	207	+			27			KRAB.			Missense_Mutation	SNP	ENST00000396403.4	37	c.79C>T	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.910117	0.33721	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	T;T;T	0.02280	4.36;4.36;4.36	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.03095	0.0091	N	0.25426	0.745	0.19775	N	0.999955	P	0.40534	0.72	P	0.48524	0.58	T	0.49133	-0.8971	9	0.44086	T	0.13	.	7.1914	0.25828	0.0:1.0:0.0:0.0	.	27	Q6ZN06	ZN813_HUMAN	S	27	ENSP00000379684:P27S;ENSP00000418289:P27S;ENSP00000379699:P27S	ENSP00000379684:P27S	P	+	1	0	ZNF813	58681761	0.000000	0.05858	0.969000	0.41365	0.852000	0.48524	-1.558000	0.02164	0.549000	0.28973	0.388000	0.25769	CCT		PASS	0.483	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		13	190	13	190	---	---	---	---
MIR526B	574468	broad.mit.edu	37	19	54198504	54198504	+	RNA	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:54198504T>C	ENST00000384848.1	+	0	83				MIR519B_ENST00000385090.1_RNA|MIR525_ENST00000384978.1_RNA	NR_030190.1				microRNA 526b																		CTTTCTGTTGTCTGAAAGAAA	0.418																																						hsa-mir-519b|MI0003151																			0					0															139.0	130.0	133.0					19																	54198504		1568	3582	5150			574469							g.chr19:54198504T>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207580	ENSG00000207580		"""ncRNAs / Micro RNAs"""	32100	non-coding RNA	RNA, micro				MIRN526B			Standard	NR_030190		Approved	hsa-mir-526b	uc021uzt.1				19.37:g.54198504T>C						MIR525_hsa-mir-525|MI0003152_5'Flank										+									RNA	SNP	ENST00000384848.1	37	c.38T>C																																																																																					PASS	0.418	MIR526B-201	KNOWN	basic	miRNA	miRNA		NR_030190		128	124	128	124	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54742916	54742916	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:54742916C>A	ENST00000396365.2	-	8	1398	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.M436I|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	453					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.M453I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAAGCCTGCCATGCCCATGC	0.572																																						uc002qeu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1357-1359)ATG>ATT		leukocyte immunoglobulin-like receptor,							119.0	108.0	112.0					19																	54742916		2176	4299	6475	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54742916C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1359G>T	19.37:g.54742916C>A	ENSP00000379651:p.Met453Ile					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.M297I	p.M453I	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1483	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		453			Helical; (Potential).			Missense_Mutation	SNP	ENST00000396365.2	37	c.1359G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	6.024	0.372865	0.11409	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00485	7.17;7.07	2.59	-1.11	0.09840	.	2.657010	0.02674	U	0.108924	T	0.00328	0.0010	N	0.25332	0.735	0.09310	N	0.999999	B	0.14805	0.011	B	0.01281	0.0	T	0.44065	-0.9352	10	0.33940	T	0.23	.	2.744	0.05262	0.0:0.4148:0.2542:0.331	.	453	Q6PI73	LIRA6_HUMAN	I	453;436	ENSP00000379651:M453I;ENSP00000245621:M436I	ENSP00000245621:M436I	M	-	3	0	LILRA6	59434728	0.031000	0.19500	0.002000	0.10522	0.119000	0.20118	0.373000	0.20484	-0.001000	0.14495	0.174000	0.16983	ATG		PASS	0.572	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		6	97	6	97	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54848965	54848965	+	Missense_Mutation	SNP	C	C	A	rs543578213		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:54848965C>A	ENST00000291759.4	-	5	714	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	220					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V220L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTCCTAGACACGCCTGGAGGG	0.597																																						uc002qfj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(658-660)GTG>TTG		leukocyte immunoglobulin-like receptor subfamily							23.0	26.0	25.0					19																	54848965		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848965C>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.658G>T	19.37:g.54848965C>A	ENSP00000291759:p.Val220Leu					LILRA4_uc002qfi.2_Missense_Mutation_p.V154L	p.V220L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	715	-	Ovarian(34;0.19)		220			Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.658G>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	6.626	0.483926	0.12581	.	.	ENSG00000239961	ENST00000291759	T	0.00487	7.05	2.4	-0.475	0.12104	Immunoglobulin-like fold (1);	2.233710	0.02402	N	0.080729	T	0.00356	0.0011	N	0.25890	0.77	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.46442	-0.9191	10	0.23891	T	0.37	.	8.6898	0.34260	0.0:0.3889:0.6111:0.0	.	220	P59901	LIRA4_HUMAN	L	220	ENSP00000291759:V220L	ENSP00000291759:V220L	V	-	1	0	LILRA4	59540777	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-1.847000	0.01675	0.004000	0.14682	0.455000	0.32223	GTG		PASS	0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		9	11	9	11	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086465	55086465	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:55086465C>G	ENST00000251377.3	+	5	753	c.620C>G	c.(619-621)tCt>tGt	p.S207C	LILRA2_ENST00000251376.3_Missense_Mutation_p.S207C|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S195C|LILRA2_ENST00000391738.3_Missense_Mutation_p.S207C|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	207	Ig-like C2-type 2.				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.S207C(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)		TATGTGTGGTCTCTACCCAGT	0.587																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TCT>TGT		leukocyte immunoglobulin-like receptor,							156.0	152.0	153.0					19																	55086465		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086465C>G	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.620C>G	19.37:g.55086465C>G	ENSP00000251377:p.Ser207Cys					LILRA2_uc010ern.2_Missense_Mutation_p.S207C|LILRA2_uc002qgf.2_Missense_Mutation_p.S207C|LILRA2_uc010yfe.1_Missense_Mutation_p.S207C|LILRA2_uc010yff.1_Missense_Mutation_p.S195C|LILRA2_uc010ero.2_Missense_Mutation_p.S195C|LILRA2_uc010yfg.1_Missense_Mutation_p.S207C	p.S207C	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	709	+			207			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.620C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731513	0.30684	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.01203	5.18;5.18;5.18;5.18;5.18	2.8	0.562	0.17290	Immunoglobulin-like fold (1);	0.415737	0.17845	N	0.160060	T	0.10937	0.0267	H	0.99336	4.52	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.996;1.0	T	0.11203	-1.0597	9	.	.	.	.	4.9832	0.14176	0.0:0.694:0.0:0.306	.	207;195;207;207	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	C	207;207;207;207;195	ENSP00000388131:S207C;ENSP00000251377:S207C;ENSP00000375618:S207C;ENSP00000251376:S207C;ENSP00000375617:S195C	.	S	+	2	0	LILRA2	59778277	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	0.721000	0.25911	0.080000	0.16959	-0.498000	0.04607	TCT		PASS	0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			97	73	97	73	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369120	56369120	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:56369120C>A	ENST00000301295.6	+	3	783	c.361C>A	c.(361-363)Cta>Ata	p.L121I	NLRP4_ENST00000587891.1_Missense_Mutation_p.L46I|NLRP4_ENST00000346986.5_Missense_Mutation_p.L121I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	121					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.L121L(1)|p.L121I(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)		TGAGATTCACCTATACTTTGA	0.473																																						uc002qmd.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(361-363)CTA>ATA		NLR family, pyrin domain containing 4							133.0	124.0	127.0					19																	56369120		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369120C>A	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.361C>A	19.37:g.56369120C>A	ENSP00000301295:p.Leu121Ile					NLRP4_uc002qmf.2_Missense_Mutation_p.L46I|NLRP4_uc010etf.2_5'UTR	p.L121I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	783	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	121					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.361C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	8.885	0.952481	0.18431	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.81499	-1.5;-1.5	3.62	0.325	0.15903	.	.	.	.	.	T	0.57695	0.2071	N	0.08118	0	0.09310	N	1	B;B	0.30793	0.295;0.093	B;B	0.31101	0.124;0.043	T	0.48281	-0.9049	9	0.33940	T	0.23	.	3.7606	0.08602	0.2408:0.2218:0.5374:0.0	.	46;121	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	I	121	ENSP00000301295:L121I;ENSP00000344787:L121I	ENSP00000301295:L121I	L	+	1	2	NLRP4	61060932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	0.162000	0.19483	-0.165000	0.13383	CTA		PASS	0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	163	7	163	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327637	57327637	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:57327637T>C	ENST00000326441.9	-	10	2536	c.2173A>G	c.(2173-2175)Agt>Ggt	p.S725G	PEG3_ENST00000593695.1_Missense_Mutation_p.S599G|PEG3_ENST00000598410.1_Missense_Mutation_p.S601G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S725G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	725					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S725G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATGGCCCACTATGAATGACA	0.433																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2173-2175)AGT>GGT		paternally expressed 3 isoform 1							99.0	93.0	95.0					19																	57327637		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327637T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2173A>G	19.37:g.57327637T>C	ENSP00000326581:p.Ser725Gly					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S696G|PEG3_uc002qnv.2_Missense_Mutation_p.S725G|PEG3_uc002qnw.2_Missense_Mutation_p.S601G|PEG3_uc002qnx.2_Missense_Mutation_p.S599G|PEG3_uc010etr.2_Missense_Mutation_p.S725G	p.S725G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2524	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	725					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2173A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	6.781	0.513071	0.12944	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.16324	2.35;2.35	3.68	2.66	0.31614	.	0.413776	0.20789	N	0.085644	T	0.10937	0.0267	L	0.27975	0.815	.	.	.	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.07233	-1.0783	9	0.41790	T	0.15	-11.5285	7.474	0.27365	0.0:0.1079:0.0:0.8921	.	601;725;660	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	725	ENSP00000326581:S725G;ENSP00000403051:S725G	ENSP00000326581:S725G	S	-	1	0	ZIM2	62019449	0.000000	0.05858	0.003000	0.11579	0.329000	0.28539	0.241000	0.18065	0.779000	0.33543	0.477000	0.44152	AGT		PASS	0.433	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			31	74	31	74	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	855022	855022	+	Missense_Mutation	SNP	C	C	A	rs552667997		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:855022C>A	ENST00000381922.3	-	8	1358	c.1256G>T	c.(1255-1257)cGc>cTc	p.R419L	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	419	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R419L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGCTCTGGCGCCCTGCTGA	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1255-1257)CGC>CTC		angiopoietin 4 precursor							94.0	76.0	82.0					20																	855022		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:855022C>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1256G>T	20.37:g.855022C>A	ENSP00000371347:p.Arg419Leu					ANGPT4_uc010zpn.1_Intron	p.R419L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			8	1359	-			419			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1256G>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590792	0.13812	.	.	ENSG00000101280	ENST00000381922	T	0.20881	2.04	5.25	-9.24	0.00669	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.684340	0.02624	N	0.103583	T	0.18800	0.0451	M	0.74647	2.275	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.36601	-0.9741	10	0.62326	D	0.03	.	0.9584	0.01390	0.1743:0.2169:0.2594:0.3494	.	419	Q9Y264	ANGP4_HUMAN	L	419	ENSP00000371347:R419L	ENSP00000371347:R419L	R	-	2	0	ANGPT4	803022	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.433000	0.06948	-1.386000	0.02098	-0.123000	0.14984	CGC		PASS	0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		25	31	25	31	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5283148	5283148	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:5283148C>A	ENST00000217270.3	-	2	692	c.693G>T	c.(691-693)gaG>gaT	p.E231D	PROKR2_ENST00000546004.1_Missense_Mutation_p.E231D	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	231					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.E231D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGCCCACGAACTCGACACCAA	0.547										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(691-693)GAG>GAT		prokineticin receptor 2							120.0	109.0	113.0					20																	5283148		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283148C>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.693G>T	20.37:g.5283148C>A	ENSP00000217270:p.Glu231Asp	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.E231D|PROKR2_uc010zqy.1_Missense_Mutation_p.E231D	p.E231D	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	693	-			231			Helical; Name=5; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.693G>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186470	0.38609	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71934	-0.61;-0.61	5.16	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.80982	2.52	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	T	0.80953	-0.1152	10	0.54805	T	0.06	.	7.7392	0.28831	0.0:0.7344:0.0:0.2656	.	231	Q8NFJ6	PKR2_HUMAN	D	231	ENSP00000440790:E231D;ENSP00000217270:E231D	ENSP00000217270:E231D	E	-	3	2	PROKR2	5231148	1.000000	0.71417	0.978000	0.43139	0.074000	0.17049	1.478000	0.35442	1.193000	0.43086	-0.150000	0.13652	GAG		PASS	0.547	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		31	34	31	34	---	---	---	---
FERMT1	55612	broad.mit.edu	37	20	6078203	6078203	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:6078203C>T	ENST00000217289.4	-	7	1713	c.925G>A	c.(925-927)Gag>Aag	p.E309K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E52K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	309	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)		p.E309K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATTTCTTCCTCTGTGCAATCA	0.418																																						uc002wmr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(925-927)GAG>AAG		kindlin-1							141.0	132.0	135.0					20																	6078203		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6078203C>T	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.925G>A	20.37:g.6078203C>T	ENSP00000217289:p.Glu309Lys					FERMT1_uc010gbt.2_Missense_Mutation_p.E52K|FERMT1_uc002wms.2_Missense_Mutation_p.E309K|FERMT1_uc002wmt.2_Missense_Mutation_p.E52K	p.E309K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN			7	1714	-			309			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.925G>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	36	5.772220	0.96922	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.81247	-1.47;-1.47	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;0.978;1.0	D;D;D	0.97110	1.0;0.931;0.997	D	0.91781	0.5435	10	0.51188	T	0.08	-6.0424	19.3067	0.94165	0.0:1.0:0.0:0.0	.	309;309;309	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	K	309;52;309	ENSP00000217289:E309K;ENSP00000441063:E52K	ENSP00000217289:E309K	E	-	1	0	FERMT1	6026203	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.468000	0.80943	2.673000	0.90976	0.555000	0.69702	GAG		PASS	0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		17	63	17	63	---	---	---	---
RRBP1	6238	broad.mit.edu	37	20	17641085	17641085	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:17641085A>C	ENST00000377813.1	-	3	371	c.68T>G	c.(67-69)aTt>aGt	p.I23S	RRBP1_ENST00000246043.4_Missense_Mutation_p.I23S|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.I23S|RRBP1_ENST00000360807.4_Missense_Mutation_p.I23S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	23					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.I23S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAAGATGCCAATGGCAGAAAC	0.473																																						uc010zrq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(67-69)ATT>AGT		SubName: Full=RRBP1 protein; Flags: Fragment;							89.0	82.0	85.0					20																	17641085		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17641085A>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.68T>G	20.37:g.17641085A>C	ENSP00000367044:p.Ile23Ser					RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.I23S|RRBP1_uc002wpw.1_Missense_Mutation_p.I23S|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.I23S	p.I23S			Q9P2E9	RRBP1_HUMAN			3	422	-			23			Helical; (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.68T>G		.	.	.	.	.	.	.	.	.	.	A	21.7	4.192529	0.78902	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T	0.37411	1.2;1.55;1.2;1.55	4.54	4.54	0.55810	.	0.000000	0.32430	N	0.006107	T	0.42268	0.1195	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.46275	-0.9203	10	0.87932	D	0	-11.3206	13.3362	0.60518	1.0:0.0:0.0:0.0	.	23	Q9P2E9-3	.	S	23	ENSP00000354045:I23S;ENSP00000367044:I23S;ENSP00000367038:I23S;ENSP00000246043:I23S	ENSP00000246043:I23S	I	-	2	0	RRBP1	17589085	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.239000	0.95389	1.821000	0.53095	0.533000	0.62120	ATT		PASS	0.473	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		31	47	31	47	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20610174	20610174	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:20610174C>T	ENST00000202677.7	-	10	1073	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	356					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E356K(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGTCCTGCTCCGTGGGCCCA	0.547																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1066-1068)GAG>AAG		akt substrate AS250							124.0	128.0	127.0					20																	20610174		2155	4264	6419	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20610174C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1066G>A	20.37:g.20610174C>T	ENSP00000202677:p.Glu356Lys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.E60K|RALGAPA2_uc010zsg.1_5'UTR	p.E356K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			10	1209	-			356					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1066G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.271650|3.271650	0.59649|0.59649	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000432524	T|.	0.78126|.	-1.15|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.046615|.	0.85682|.	D|.	0.000000|.	T|T	0.75302|0.75302	0.3831|0.3831	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.44627|.	0.839|.	B|.	0.39379|.	0.298|.	T|T	0.75001|0.75001	-0.3471|-0.3471	10|5	0.40728|.	T|.	0.16|.	.|.	18.5223|18.5223	0.90958|0.90958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	356|.	Q2PPJ7|.	RGPA2_HUMAN|.	K|E	356|207	ENSP00000202677:E356K|.	ENSP00000202677:E356K|.	E|G	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20558174|20558174	0.941000|0.941000	0.31946|0.31946	0.457000|0.457000	0.27056|0.27056	0.017000|0.017000	0.09413|0.09413	7.293000|7.293000	0.78740|0.78740	2.364000|2.364000	0.80123|0.80123	0.555000|0.555000	0.69702|0.69702	GAG|GGA		PASS	0.547	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		32	38	32	38	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016630	23016630	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:23016630G>A	ENST00000255008.3	+	1	574	c.510G>A	c.(508-510)gtG>gtA	p.V170V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	170					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V170V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACCTGGGCGTGTGGCTGGCAT	0.697																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(508-510)GTG>GTA		somatostatin receptor 4							48.0	54.0	52.0					20																	23016630		2197	4293	6490	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016630G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.510G>A	20.37:g.23016630G>A							p.V170V	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	574	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		170			Helical; Name=4; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.510G>A	CCDS42856.1																																																																																				PASS	0.697	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			11	38	11	38	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30745749	30745749	+	Silent	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:30745749G>A	ENST00000398022.2	+	14	1717	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R	TM9SF4_ENST00000217315.5_Silent_p.R477R	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	494						integral component of membrane (GO:0016021)		p.R477R(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGAGCAGCGGTGGTACATGA	0.617																																						uc002wxj.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1480-1482)CGG>CGA		transmembrane 9 superfamily protein member 4							86.0	79.0	81.0					20																	30745749		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30745749G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1482G>A	20.37:g.30745749G>A						TM9SF4_uc010zts.1_Silent_p.R401R|TM9SF4_uc002wxk.2_Silent_p.R477R|TM9SF4_uc010gdz.2_Silent_p.R373R	p.R494R	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1717	+			494					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.1482G>A	CCDS13196.2																																																																																				PASS	0.617	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		12	49	12	49	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864878	40864878	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:40864878G>C	ENST00000373187.1	-	15	2332	c.2333C>G	c.(2332-2334)tCc>tGc	p.S778C	PTPRT_ENST00000373190.1_Missense_Mutation_p.S778C|PTPRT_ENST00000373198.4_Missense_Mutation_p.S797C|PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373193.3_Missense_Mutation_p.S778C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	778					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S797C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAAGTAATAGGAGTAGGAATA	0.388																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(2332-2334)TCC>TGC		protein tyrosine phosphatase, receptor type, T							123.0	120.0	121.0					20																	40864878		1874	4101	5975	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40864878G>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2333C>G	20.37:g.40864878G>C	ENSP00000362283:p.Ser778Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.S797C	p.S778C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			15	2517	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	778			Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2333C>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528847	0.64860	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000373198	T;T;T;T	0.37584	1.19;1.23;1.27;1.28	5.69	5.69	0.88448	.	0.067397	0.64402	D	0.000012	T	0.43634	0.1256	N	0.14661	0.345	0.80722	D	1	D;P	0.56035	0.974;0.956	D;D	0.69654	0.965;0.923	T	0.41963	-0.9479	10	0.48119	T	0.1	.	16.7383	0.85453	0.0:0.0:1.0:0.0	.	797;778	O14522-1;O14522	.;PTPRT_HUMAN	C	778;778;778;797	ENSP00000362286:S778C;ENSP00000362283:S778C;ENSP00000362289:S778C;ENSP00000362294:S797C	ENSP00000362283:S778C	S	-	2	0	PTPRT	40298292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.598000	0.67585	2.679000	0.91253	0.650000	0.86243	TCC		PASS	0.388	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			17	70	17	70	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573767	54573767	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr20:54573767G>T	ENST00000064571.2	-	3	1752	c.452C>A	c.(451-453)gCg>gAg	p.A151E		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	151	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.A151E(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTTGTCCCCCGCAAAGGCAGA	0.358																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(451-453)GCG>GAG		cerebellin 4 precursor							79.0	74.0	76.0					20																	54573767		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573767G>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.452C>A	20.37:g.54573767G>T	ENSP00000064571:p.Ala151Glu						p.A151E	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1237	-			151			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.452C>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645108	0.87859	.	.	ENSG00000054803	ENST00000064571	T	0.38401	1.14	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49495	-0.8934	10	0.34782	T	0.22	-13.7718	19.6506	0.95805	0.0:0.0:1.0:0.0	.	151	Q9NTU7	CBLN4_HUMAN	E	151	ENSP00000064571:A151E	ENSP00000064571:A151E	A	-	2	0	CBLN4	54007174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.799000	0.99117	2.640000	0.89533	0.591000	0.81541	GCG		PASS	0.358	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		25	13	25	13	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044507	33044507	+	Silent	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr21:33044507C>T	ENST00000286835.7	-	20	3031	c.2649G>A	c.(2647-2649)ccG>ccA	p.P883P	SCAF4_ENST00000434667.3_Silent_p.P868P|SCAF4_ENST00000399804.1_Silent_p.P861P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	883						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P883P(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCATCATGTGCGGTGGCATGG	0.642																																						uc002ypd.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(2647-2649)CCG>CCA		splicing factor, arginine/serine-rich 15 isoform							66.0	64.0	65.0					21																	33044507		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044507C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2649G>A	21.37:g.33044507C>T						SFRS15_uc002ype.2_Silent_p.P861P|SFRS15_uc010glu.2_Silent_p.P868P	p.P883P	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	3075	-			883					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2649G>A	CCDS33537.1																																																																																				PASS	0.642	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		25	10	25	10	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33058012	33058012	+	Missense_Mutation	SNP	C	C	A	rs369638100		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr21:33058012C>A	ENST00000286835.7	-	17	2460	c.2078G>T	c.(2077-2079)gGt>gTt	p.G693V	SCAF4_ENST00000434667.3_Missense_Mutation_p.G678V|SCAF4_ENST00000399804.1_Missense_Mutation_p.G693V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	693						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G693V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAGAGCACCAACTACAGG	0.547																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2077-2079)GGT>GTT		splicing factor, arginine/serine-rich 15 isoform							70.0	70.0	70.0					21																	33058012		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33058012C>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2078G>T	21.37:g.33058012C>A	ENSP00000286835:p.Gly693Val					SFRS15_uc002ype.2_Missense_Mutation_p.G693V|SFRS15_uc010glu.2_Missense_Mutation_p.G678V|SFRS15_uc002ypf.1_Missense_Mutation_p.G367V	p.G693V	NM_020706	NP_065757	O95104	SFR15_HUMAN			17	2504	-			693					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2078G>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652951	0.67472	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.55234	0.56;0.53;0.64	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.68952	0.3057	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.59979	-0.7352	10	0.14252	T	0.57	-12.7603	20.0661	0.97704	0.0:1.0:0.0:0.0	.	678;693;693;693	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	678;693;693	ENSP00000402377:G678V;ENSP00000286835:G693V;ENSP00000382703:G693V	ENSP00000286835:G693V	G	-	2	0	SCAF4	31979883	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.437000	0.80417	2.739000	0.93911	0.563000	0.77884	GGT		PASS	0.547	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		17	10	17	10	---	---	---	---
SON	6651	broad.mit.edu	37	21	34926741	34926741	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr21:34926741G>A	ENST00000356577.4	+	3	5679	c.5204G>A	c.(5203-5205)aGa>aAa	p.R1735K	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1735K|SON_ENST00000300278.4_Missense_Mutation_p.R1735K|SON_ENST00000290239.6_Missense_Mutation_p.R1735K	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1735					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.R1735K(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						GATTTAGTGAGACCGTTACTT	0.448																																						uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(5203-5205)AGA>AAA		SON DNA-binding protein isoform F							139.0	134.0	136.0					21																	34926741		2203	4300	6503	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.chr21:34926741G>A	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.5204G>A	21.37:g.34926741G>A	ENSP00000348984:p.Arg1735Lys					SON_uc002ysb.1_Missense_Mutation_p.R1735K|SON_uc002ysc.2_Missense_Mutation_p.R1735K|SON_uc002ysd.2_Missense_Mutation_p.R726K|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R726K	p.R1735K	NM_138927	NP_620305	P18583	SON_HUMAN			3	5253	+			1735					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5204G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.933056|2.933056	0.52866|0.52866	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.23147	.|2.73;2.7;2.12;1.92	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.48003|0.48003	0.1476|0.1476	L|L	0.56769|0.56769	1.78|1.78	0.32376|0.32376	N|N	0.555204|0.555204	.|D;D;D;D;D	.|0.61697	.|0.99;0.984;0.99;0.99;0.985	.|D;D;D;D;D	.|0.73380	.|0.98;0.956;0.98;0.98;0.97	T|T	0.56080|0.56080	-0.8038|-0.8038	5|10	.|0.59425	.|D	.|0.04	.|.	16.3331|16.3331	0.83050|0.83050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1735;1735;1416;1735;1735	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	N|K	730|1735	.|ENSP00000348984:R1735K;ENSP00000290239:R1735K;ENSP00000300278:R1735K;ENSP00000371095:R1735K	.|ENSP00000290239:R1735K	D|R	+|+	1|2	0|0	SON|SON	33848611|33848611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.739000|1.739000	0.38217|0.38217	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	GAC|AGA		PASS	0.448	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		17	80	17	80	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47571482	47571482	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr21:47571482C>G	ENST00000291670.5	-	5	669	c.626G>C	c.(625-627)gGg>gCg	p.G209A	FTCD_ENST00000397748.1_Missense_Mutation_p.G209A|FTCD_ENST00000397743.1_Missense_Mutation_p.G209A|FTCD_ENST00000359679.2_Missense_Mutation_p.G209A|FTCD_ENST00000355384.2_Missense_Mutation_p.G209A|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.G209A|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	209	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.G209A(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTGGTCCTTCCCGCGGCCCTG	0.652																																						uc002zif.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(625-627)GGG>GCG		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						59.0	64.0	62.0					21																	47571482		2203	4299	6502	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571482C>G	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.626G>C	21.37:g.47571482C>G	ENSP00000291670:p.Gly209Ala					FTCD_uc002zig.2_Missense_Mutation_p.G209A|FTCD_uc002zih.2_Missense_Mutation_p.G209A|FTCD_uc010gqf.2_Missense_Mutation_p.G209A|FTCD_uc010gqg.1_Missense_Mutation_p.G78A	p.G209A	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	670	-	Breast(49;0.214)		209			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.626G>C	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604269	0.46423	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.23	4.23	0.50019	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.061577	0.64402	U	0.000004	T	0.81365	0.4807	M	0.85859	2.78	0.54753	D	0.999981	P;P;P	0.40360	0.577;0.714;0.558	B;B;B	0.36534	0.227;0.169;0.212	T	0.80002	-0.1565	10	0.09338	T	0.73	.	13.2884	0.60255	0.0:0.8399:0.16:0.0	.	209;209;209	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	A	209	ENSP00000291670:G209A;ENSP00000380856:G209A;ENSP00000352707:G209A;ENSP00000347545:G209A;ENSP00000380854:G209A;ENSP00000380851:G209A	ENSP00000291670:G209A	G	-	2	0	FTCD	46395910	0.994000	0.37717	0.930000	0.37139	0.851000	0.48451	3.792000	0.55476	1.875000	0.54330	0.467000	0.42956	GGG		PASS	0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		11	7	11	7	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21330039	21330039	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:21330039A>G	ENST00000399167.2	+	9	1019	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	AIFM3_ENST00000335375.5_Missense_Mutation_p.Y248C|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.Y266C|AIFM3_ENST00000440238.2_Missense_Mutation_p.Y260C|AIFM3_ENST00000333607.6_Missense_Mutation_p.Y260C|AIFM3_ENST00000399163.2_Missense_Mutation_p.Y260C	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	260					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.Y260C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTCCGAGCCTATGGCATCGAG	0.627																																						uc002ztj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(778-780)TAT>TGT		apoptosis-inducing factor,							68.0	63.0	65.0					22																	21330039		2203	4300	6503	SO:0001583	missense	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21330039A>G	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.779A>G	22.37:g.21330039A>G	ENSP00000382120:p.Tyr260Cys					AIFM3_uc002ztk.2_Missense_Mutation_p.Y260C|AIFM3_uc002ztl.2_Missense_Mutation_p.Y266C|AIFM3_uc011ahx.1_Missense_Mutation_p.Y248C|AIFM3_uc002ztm.1_Missense_Mutation_p.Y72C	p.Y260C	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	997	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	260					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.779A>G	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.743100	0.49151	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;D;T;T;T;T	0.82893	0.88;0.88;-1.66;0.88;0.88;0.88;0.88	5.65	5.65	0.86999	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.061413	0.64402	D	0.000003	D	0.88321	0.6405	M	0.65320	2	0.58432	D	0.999997	D;B;B;B;B	0.89917	1.0;0.331;0.005;0.005;0.007	D;B;B;B;B	0.69142	0.962;0.209;0.012;0.012;0.021	D	0.87526	0.2449	10	0.39692	T	0.17	-0.8169	12.2683	0.54691	1.0:0.0:0.0:0.0	.	248;248;266;260;260	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	C	260;260;260;266;248;260;260	ENSP00000382120:Y260C;ENSP00000382116:Y260C;ENSP00000399657:Y260C;ENSP00000385800:Y266C;ENSP00000335369:Y248C;ENSP00000390798:Y260C;ENSP00000327671:Y260C	ENSP00000327671:Y260C	Y	+	2	0	AIFM3	19660039	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.988000	0.88194	2.154000	0.67381	0.459000	0.35465	TAT		PASS	0.627	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		8	55	8	55	---	---	---	---
GUCD1	83606	broad.mit.edu	37	22	24943946	24943946	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:24943946A>C	ENST00000407471.3	-	3	414	c.224T>G	c.(223-225)aTg>aGg	p.M75R	GUCD1_ENST00000490922.1_5'UTR|GUCD1_ENST00000402766.1_Missense_Mutation_p.M75R|GUCD1_ENST00000404664.3_Missense_Mutation_p.M131R|GUCD1_ENST00000435822.1_Missense_Mutation_p.M75R|GUCD1_ENST00000447813.2_Missense_Mutation_p.M75R	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	75								p.M75R(1)									AAAGTGGTGCATCAGGTAGGC	0.607																																						uc003aah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)ATG>AGG		chromosome 22 open reading frame 13							133.0	100.0	112.0					22																	24943946		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24943946A>C	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.224T>G	22.37:g.24943946A>C	ENSP00000386076:p.Met75Arg					C22orf13_uc003aal.2_Missense_Mutation_p.M131R|C22orf13_uc003aai.3_Missense_Mutation_p.M75R|C22orf13_uc003aaj.3_Missense_Mutation_p.M75R|C22orf13_uc003aak.3_Missense_Mutation_p.M131R	p.M75R	NM_031444	NP_113632	Q96NT3	CV013_HUMAN			3	540	-			75					B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.224T>G	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167634	0.78339	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.13	5.13	0.70059	.	0.086179	0.85682	D	0.000000	T	0.68256	0.2981	L	0.48362	1.52	0.80722	D	1	D;P;P;D;P	0.71674	0.998;0.93;0.912;0.982;0.766	D;P;P;P;P	0.66351	0.943;0.521;0.7;0.815;0.449	T	0.71764	-0.4494	9	0.87932	D	0	-50.5352	14.1183	0.65169	1.0:0.0:0.0:0.0	.	75;131;139;75;75	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	R	75;75;131;75;75;75	.	ENSP00000381297:M75R	M	-	2	0	C22orf13	23273946	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.787000	0.91830	1.937000	0.56155	0.533000	0.62120	ATG		PASS	0.607	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		32	42	32	42	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29706908	29706908	+	IGR	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:29706908G>C	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_Silent_p.G310G|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407647.2_Silent_p.G310G|GAS2L1_ENST00000407854.1_Silent_p.G310G|GAS2L1_ENST00000406549.3_Silent_p.G310G|GAS2L1_ENST00000471961.1_Silent_p.G310G|GAS2L1_ENST00000360113.2_Intron|GAS2L1_ENST00000341313.6_Silent_p.G310G	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G310G(2)		NS(1)	1						CAGTCCCTGGGAGTGAGCGCC	0.672																																						uc003afa.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(928-930)GGG>GGC		growth arrest-specific 2 like 1 isoform a							50.0	58.0	55.0					22																	29706908		2203	4300	6503	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29706908G>C	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706908G>C						GAS2L1_uc010gvm.1_Silent_p.G310G|GAS2L1_uc003afb.1_Silent_p.G310G|GAS2L1_uc003afc.1_Silent_p.G310G|GAS2L1_uc003afd.1_Silent_p.G310G|GAS2L1_uc003afe.1_Silent_p.G310G	p.G310G	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			5	1129	+			310					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.930G>C	CCDS13854.1																																																																																				PASS	0.672	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			35	37	35	37	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885319	29885319	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:29885319G>C	ENST00000310624.6	+	4	1723	c.1690G>C	c.(1690-1692)Gcc>Ccc	p.A564P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	564	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A564P(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACCGCCTGAGGCCAAGTCCCC	0.567																																						uc003afo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1690-1692)GCC>CCC		neurofilament, heavy polypeptide 200kDa							67.0	70.0	69.0					22																	29885319		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885319G>C		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1690G>C	22.37:g.29885319G>C	ENSP00000311997:p.Ala564Pro					NEFH_uc003afp.2_Intron	p.A564P	NM_021076	NP_066554	P12036	NFH_HUMAN			4	1761	+			564			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|5.|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1690G>C	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515179	0.44763	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.84070	-1.8	4.92	2.78	0.32641	.	0.813739	0.10425	N	0.676132	T	0.68467	0.3004	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.51694	-0.8673	10	0.19147	T	0.46	.	6.8271	0.23889	0.0984:0.1776:0.724:0.0	.	564	P12036	NFH_HUMAN	P	564	ENSP00000311997:A564P	ENSP00000311997:A564P	A	+	1	0	NEFH	28215319	0.877000	0.30153	0.002000	0.10522	0.011000	0.07611	0.923000	0.28757	0.449000	0.26747	0.655000	0.94253	GCC		PASS	0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		20	145	20	145	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33733695	33733695	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:33733695G>T	ENST00000354992.2	-	11	1795	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Missense_Mutation_p.D408E|LARGE_ENST00000397394.2_Missense_Mutation_p.D408E|LARGE_ENST00000452586.2_Missense_Mutation_p.D207E|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	408					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D408E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GAAGATTGCCGTCATACTCCA	0.562																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1222-1224)GAC>GAA		like-glycosyltransferase							87.0	77.0	81.0					22																	33733695		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33733695G>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1224C>A	22.37:g.33733695G>T	ENSP00000347088:p.Asp408Glu					LARGE_uc011amd.1_Missense_Mutation_p.D207E|LARGE_uc003ane.3_Missense_Mutation_p.D408E|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Missense_Mutation_p.D340E|LARGE_uc011amf.1_Missense_Mutation_p.D408E|LARGE_uc010gwq.1_RNA	p.D408E	NM_004737	NP_004728	O95461	LARGE_HUMAN			11	1803	-		Lung NSC(1;0.219)	408			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1224C>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042639	0.35989	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000397394;ENST00000452586;ENST00000437602	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.22	-9.96	0.00443	.	0.045670	0.85682	D	0.000000	T	0.40743	0.1129	M	0.81942	2.565	0.37114	D	0.900473	D;D;D	0.76494	0.999;0.996;0.998	D;D;D	0.70227	0.964;0.968;0.963	T	0.71846	-0.4469	10	0.66056	D	0.02	-18.6552	19.089	0.93219	0.6743:0.0:0.3257:0.0	.	408;207;408	B7Z2I9;E9PH73;O95461	.;.;LARGE_HUMAN	E	85;85;85;408;408;207;408	ENSP00000347088:D408E;ENSP00000380549:D408E;ENSP00000407917:D207E;ENSP00000388544:D408E	ENSP00000347088:D408E	D	-	3	2	LARGE	32063695	0.067000	0.21026	0.212000	0.23672	0.005000	0.04900	-0.484000	0.06528	-1.877000	0.01129	-0.793000	0.03317	GAC		PASS	0.562	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		15	30	15	30	---	---	---	---
L3MBTL2	83746	broad.mit.edu	37	22	41605724	41605724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:41605724G>T	ENST00000216237.5	+	2	207	c.49G>T	c.(49-51)Gag>Tag	p.E17*	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	17	Poly-Glu.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E17*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAACCAATGGAGGAAGAGGA	0.488																																						uc003azo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(49-51)GAG>TAG		l(3)mbt-like 2							175.0	178.0	177.0					22																	41605724		2203	4300	6503	SO:0001587	stop_gained	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41605724G>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.49G>T	22.37:g.41605724G>T	ENSP00000216237:p.Glu17*					L3MBTL2_uc010gyi.1_5'UTR|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	p.E17*	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			2	103	+			17			Poly-Glu.		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Nonsense_Mutation	SNP	ENST00000216237.5	37	c.49G>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734555	0.69189	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	.	.	.	4.46	3.39	0.38822	.	0.323945	0.29609	N	0.011672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	9.6714	0.40015	0.0:0.0:0.7915:0.2085	.	.	.	.	X	17;9	.	ENSP00000216237:E17X	E	+	1	0	L3MBTL2	39935670	1.000000	0.71417	0.979000	0.43373	0.938000	0.57974	6.323000	0.72891	0.940000	0.37473	0.655000	0.94253	GAG		PASS	0.488	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		6	181	6	181	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43614411	43614411	+	Missense_Mutation	SNP	C	C	A	rs139119420		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:43614411C>A	ENST00000360835.4	-	15	1867	c.1741G>T	c.(1741-1743)Gcc>Tcc	p.A581S		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	581					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.A581S(1)|p.A581T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTCTTGATGGCGGCCTGCAGG	0.607																																						uc003bdt.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(1741-1743)GCC>TCC		signal peptide, CUB domain, EGF-like 1							91.0	96.0	94.0					22																	43614411		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43614411C>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1741G>T	22.37:g.43614411C>A	ENSP00000354080:p.Ala581Ser						p.A581S	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			15	1829	-		all_neural(38;0.0414)|Ovarian(80;0.07)	581					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1741G>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	c	9.886	1.203003	0.22121	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.85339	-1.97	4.4	3.38	0.38709	.	0.271369	0.41712	D	0.000840	T	0.80879	0.4708	L	0.55834	1.745	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.75566	-0.3273	10	0.31617	T	0.26	.	12.6566	0.56791	0.0:0.9194:0.0:0.0806	.	581	Q8IWY4	SCUB1_HUMAN	S	581;211	ENSP00000354080:A581S	ENSP00000354080:A581S	A	-	1	0	SCUBE1	41944355	0.993000	0.37304	0.718000	0.30602	0.167000	0.22549	3.054000	0.49908	1.091000	0.41335	-0.220000	0.12472	GCC		PASS	0.607	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		45	72	45	72	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50682676	50682676	+	Silent	SNP	G	G	C			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr22:50682676G>C	ENST00000248846.5	-	1	317	c.213C>G	c.(211-213)ctC>ctG	p.L71L	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.L71L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	71					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.L71L(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGACAACATGAGGATCTTGT	0.517																																						uc003bkb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(211-213)CTC>CTG		tubulin, gamma complex associated protein 6							82.0	77.0	79.0					22																	50682676		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682676G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.213C>G	22.37:g.50682676G>C						TUBGCP6_uc010har.1_Silent_p.L71L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.L71L	p.L71L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	725	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	71					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.213C>G	CCDS14087.1																																																																																				PASS	0.517	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		8	77	8	77	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19025356	19025356	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:19025356G>T	ENST00000379869.3	-	20	1849	c.1686C>A	c.(1684-1686)agC>agA	p.S562R	GPR64_ENST00000360279.4_Missense_Mutation_p.S540R|GPR64_ENST00000379873.2_Missense_Mutation_p.S562R|GPR64_ENST00000379878.3_Missense_Mutation_p.S546R|GPR64_ENST00000357544.3_Missense_Mutation_p.S532R|GPR64_ENST00000356606.4_Missense_Mutation_p.S548R|GPR64_ENST00000354791.3_Missense_Mutation_p.S546R|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379876.1_Missense_Mutation_p.S538R|GPR64_ENST00000357991.3_Missense_Mutation_p.S559R	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	562					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.S559R(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCCCCACCTGGCTCGGGTTGA	0.498																																						uc004cyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1684-1686)AGC>AGA		G protein-coupled receptor 64 isoform 1							229.0	158.0	182.0					X																	19025356		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19025356G>T	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.1686C>A	X.37:g.19025356G>T	ENSP00000369198:p.Ser562Arg					GPR64_uc004cyy.2_Missense_Mutation_p.S559R|GPR64_uc004cyz.2_Missense_Mutation_p.S548R|GPR64_uc004czb.2_Missense_Mutation_p.S562R|GPR64_uc004czc.2_Missense_Mutation_p.S546R|GPR64_uc004czd.2_Missense_Mutation_p.S538R|GPR64_uc004cze.2_Missense_Mutation_p.S532R|GPR64_uc004czf.2_Missense_Mutation_p.S524R|GPR64_uc004cza.2_Missense_Mutation_p.S540R|GPR64_uc004cyw.2_Missense_Mutation_p.S546R|GPR64_uc010nfj.2_Intron	p.S562R	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			20	1850	-	Hepatocellular(33;0.183)		562			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1686C>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863789	0.51482	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.49;1.48;1.48;1.48;1.53;1.48;1.53;1.52	5.87	3.1	0.35709	.	0.179634	0.40064	N	0.001186	T	0.33556	0.0867	L	0.44542	1.39	0.33590	D	0.601012	B;B;B;B;B;B;B;B;B;B	0.33345	0.031;0.409;0.008;0.008;0.409;0.409;0.409;0.409;0.004;0.286	B;B;B;B;B;B;B;B;B;B	0.40982	0.036;0.345;0.043;0.043;0.345;0.345;0.345;0.345;0.019;0.187	T	0.47861	-0.9084	10	0.72032	D	0.01	.	7.462	0.27300	0.4321:0.0:0.5679:0.0	.	524;532;538;546;562;540;548;559;562;546	Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;GPR64_HUMAN;.	R	562;546;546;538;532;562;540;559;548	ENSP00000369202:S562R;ENSP00000369207:S546R;ENSP00000346845:S546R;ENSP00000369205:S538R;ENSP00000350152:S532R;ENSP00000369198:S562R;ENSP00000353421:S540R;ENSP00000350680:S559R;ENSP00000349015:S548R	ENSP00000346845:S546R	S	-	3	2	GPR64	18935277	0.893000	0.30496	0.877000	0.34402	0.850000	0.48378	1.235000	0.32671	0.604000	0.29930	0.594000	0.82650	AGC		PASS	0.498	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			16	10	16	10	---	---	---	---
PRDX4	10549	broad.mit.edu	37	X	23689672	23689672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:23689672G>T	ENST00000379341.4	+	2	393	c.268G>T	c.(268-270)Gga>Tga	p.G90*	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Nonsense_Mutation_p.G90*	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	90	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)	p.G90*(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTACTGGGAAGGAACAGCTGT	0.383																																						uc004dam.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(268-270)GGA>TGA		peroxiredoxin 4							166.0	143.0	151.0					X																	23689672		2203	4300	6503	SO:0001587	stop_gained	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23689672G>T	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.268G>T	X.37:g.23689672G>T	ENSP00000368646:p.Gly90*						p.G90*	NM_006406	NP_006397	Q13162	PRDX4_HUMAN			2	311	+			90			Thioredoxin.		Q6FHT3	Nonsense_Mutation	SNP	ENST00000379341.4	37	c.268G>T	CCDS14206.1	.	.	.	.	.	.	.	.	.	.	G	39	7.414087	0.98269	.	.	ENSG00000123131	ENST00000379349;ENST00000379341;ENST00000379331	.	.	.	5.22	5.22	0.72569	.	0.047540	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5779	17.5671	0.87923	0.0:0.0:1.0:0.0	.	.	.	.	X	76;90;90	.	ENSP00000368635:G90X	G	+	1	0	PRDX4	23599593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.223000	0.95203	2.175000	0.68902	0.594000	0.82650	GGA		PASS	0.383	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1	NM_006406		4	33	4	33	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212607	26212607	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:26212607C>A	ENST00000379034.1	+	2	793	c.644C>A	c.(643-645)tCc>tAc	p.S215Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	215	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S215Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGAAAGAGTCCATTTTGAAG	0.468																																						uc004dbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(643-645)TCC>TAC		melanoma antigen family B, 6							87.0	73.0	78.0					X																	26212607		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212607C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.644C>A	X.37:g.26212607C>A	ENSP00000368320:p.Ser215Tyr					MAGEB6_uc010ngc.1_5'UTR	p.S215Y	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	793	+			215			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.644C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740904	0.30865	.	.	ENSG00000176746	ENST00000379034	T	0.05025	3.51	3.1	2.22	0.28083	.	0.140599	0.48286	U	0.000188	T	0.08313	0.0207	L	0.48642	1.525	0.09310	N	1	P	0.52316	0.952	P	0.48227	0.571	T	0.15065	-1.0450	10	0.49607	T	0.09	.	6.8808	0.24173	0.2717:0.7283:0.0:0.0	.	215	Q8N7X4	MAGB6_HUMAN	Y	215	ENSP00000368320:S215Y	ENSP00000368320:S215Y	S	+	2	0	MAGEB6	26122528	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	0.058000	0.14301	0.684000	0.31448	0.594000	0.82650	TCC		PASS	0.468	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		26	32	26	32	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30260685	30260685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:30260685G>T	ENST00000378982.2	+	1	629	c.433G>T	c.(433-435)Gag>Tag	p.E145*	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	145	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E145*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AAAGTACAAGGAGCACTTCCC	0.478																																						uc004dcb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(433-435)GAG>TAG		melanoma antigen family B, 4							59.0	44.0	49.0					X																	30260685		2202	4300	6502	SO:0001587	stop_gained	4115							g.chrX:30260685G>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.433G>T	X.37:g.30260685G>T	ENSP00000368266:p.Glu145*					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.E145*	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	517	+			145			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Nonsense_Mutation	SNP	ENST00000378982.2	37	c.433G>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385748	0.61956	.	.	ENSG00000120289	ENST00000378982	.	.	.	3.43	-2.15	0.07102	.	0.409166	0.22416	U	0.060351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.008	0.01491	0.2267:0.3265:0.2792:0.1677	.	.	.	.	X	145	.	ENSP00000368266:E145X	E	+	1	0	MAGEB4	30170606	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.083000	0.03397	-0.683000	0.05190	-0.176000	0.13171	GAG		PASS	0.478	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		6	9	6	9	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	rs397514628		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		9	Whole gene deletion(6)|No detectable mRNA/protein(2)|Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1555-1557)CGA>TGA		ubiquitously transcribed tetratricopeptide							77.0	68.0	71.0					X																	44922694		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922694C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1555C>T	X.37:g.44922694C>T	ENSP00000367203:p.Arg519*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158*	p.R519*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	1930	+			519					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1555C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861176|4.861176	0.91433|0.91433	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.365679|.	0.29053|.	N|.	0.013298|.	.|T	.|0.73885	.|0.3644	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74109	.|-0.3771	.|3	0.02654|.	T|.	1|.	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	216;519;474;526;440;112|116;161	.|.	ENSP00000334340:R216X|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44807638|44807638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	4.387000|4.387000	0.59626|0.59626	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CGA|ACG		PASS	0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		26	18	26	18	---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570653	62570653	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:62570653C>T	ENST00000335144.3	-	1	565	c.46G>A	c.(46-48)Gca>Aca	p.A16T	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_5'UTR	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	16					gamete generation (GO:0007276)			p.A16T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ATCAGGTATGCGGACACGCCA	0.567																																						uc004dvf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(46-48)GCA>ACA		spindlin family, member 4							58.0	57.0	58.0					X																	62570653		2038	4167	6205	SO:0001583	missense	139886				gamete generation			g.chrX:62570653C>T	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.46G>A	X.37:g.62570653C>T	ENSP00000334163:p.Ala16Thr						p.A16T	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	566	-			16					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.46G>A	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	16.51	3.142258	0.57044	.	.	ENSG00000186767	ENST00000335144	T	0.52057	0.68	3.9	3.03	0.35002	.	0.000000	0.40728	N	0.001028	T	0.33440	0.0863	L	0.38175	1.15	0.47994	D	0.999565	D	0.54397	0.966	B	0.41440	0.357	T	0.05500	-1.0881	10	0.33940	T	0.23	-27.496	7.9367	0.29933	0.2438:0.7562:0.0:0.0	.	16	Q56A73	SPIN4_HUMAN	T	16	ENSP00000334163:A16T	ENSP00000334163:A16T	A	-	1	0	SPIN4	62487378	0.992000	0.36948	0.633000	0.29310	0.989000	0.77384	4.004000	0.57068	0.999000	0.39023	0.422000	0.28245	GCA		PASS	0.567	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		9	13	9	13	---	---	---	---
ARR3	407	broad.mit.edu	37	X	69502420	69502420	+	IGR	SNP	C	C	G	rs140771923		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:69502420C>G	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.N53K|RAB41_ENST00000374473.2_Missense_Mutation_p.N54K	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.N54K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCATGTACAACAGCTTCGGCT	0.527																																						uc004dyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(160-162)AAC>AAG		RAB41, member RAS oncogene family							92.0	67.0	75.0					X																	69502420		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502420C>G		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502420C>G						RAB41_uc010nkv.2_Missense_Mutation_p.N43K	p.N54K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN			2	162	+			54					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.162C>G	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340347	0.41498	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.80214	-1.35;-1.35;-1.35	4.22	1.4	0.22301	Small GTP-binding protein domain (1);	0.096714	0.39146	U	0.001446	T	0.76835	0.4043	L	0.39633	1.23	0.26384	N	0.976688	B;B	0.31548	0.041;0.328	B;P	0.45310	0.026;0.476	T	0.69514	-0.5125	10	0.72032	D	0.01	.	5.8317	0.18584	0.0:0.6543:0.1556:0.1901	.	53;54	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	K	3;54;53	ENSP00000421643:N3K;ENSP00000363597:N54K;ENSP00000276066:N53K	ENSP00000276066:N53K	N	+	3	2	RAB41	69419145	1.000000	0.71417	0.001000	0.08648	0.003000	0.03518	1.959000	0.40412	-0.013000	0.14199	0.600000	0.82982	AAC		PASS	0.527	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		9	4	9	4	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70464694	70464694	+	Silent	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:70464694C>A	ENST00000353904.2	-	19	3244	c.3057G>T	c.(3055-3057)ctG>ctT	p.L1019L	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Silent_p.L1007L|ZMYM3_ENST00000373988.1_Silent_p.L1021L|ZMYM3_ENST00000373984.3_Silent_p.L1021L|ZMYM3_ENST00000314425.5_Silent_p.L1019L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1019					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1019L(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGCCCTACCAGGCCACAAT	0.453																																						uc004dzh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3055-3057)CTG>CTT		zinc finger protein 261							70.0	52.0	58.0					X																	70464694		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464694C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3057G>T	X.37:g.70464694C>A						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.L1019L|ZMYM3_uc004dzj.1_Silent_p.L1007L	p.L1019L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			19	3144	-	Renal(35;0.156)		1019					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.3057G>T	CCDS14409.1																																																																																				PASS	0.453	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	18	4	18	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117959988	117959988	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:117959988T>A	ENST00000310164.2	+	4	1288	c.781T>A	c.(781-783)Tgc>Agc	p.C261S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	261					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C261S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CAGTGCTGACTGCAATGTGAT	0.557																																						uc004equ.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)TGC>AGC		zinc finger, CCHC domain containing 12							77.0	66.0	70.0					X																	117959988		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959988T>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.781T>A	X.37:g.117959988T>A	ENSP00000308921:p.Cys261Ser						p.C261S	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1254	+			261					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.781T>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103812	0.37145	.	.	ENSG00000174460	ENST00000310164	T	0.50001	0.76	3.1	3.1	0.35709	.	.	.	.	.	T	0.58793	0.2147	M	0.79123	2.44	0.31628	N	0.649398	D	0.76494	0.999	D	0.80764	0.994	T	0.60667	-0.7218	9	0.02654	T	1	-4.5079	6.9982	0.24795	0.0:0.0:0.0:1.0	.	261	Q6PEW1	ZCH12_HUMAN	S	261	ENSP00000308921:C261S	ENSP00000308921:C261S	C	+	1	0	ZCCHC12	117844016	0.230000	0.23740	0.917000	0.36280	0.455000	0.32408	0.449000	0.21744	1.456000	0.47831	0.486000	0.48141	TGC		PASS	0.557	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		18	19	18	19	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131219751	131219751	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:131219751C>A	ENST00000298542.4	-	7	678	c.503G>T	c.(502-504)aGg>aTg	p.R168M	FRMD7_ENST00000464296.1_Missense_Mutation_p.R153M|FRMD7_ENST00000370879.1_Missense_Mutation_p.R48M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	168	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R168M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTGGGCTCCTGCCACTGAA	0.502																																						uc004ewn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)AGG>ATG		FERM domain containing 7							71.0	61.0	64.0					X																	131219751		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219751C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.503G>T	X.37:g.131219751C>A	ENSP00000298542:p.Arg168Met					FRMD7_uc011muy.1_Missense_Mutation_p.R153M	p.R168M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			7	681	-	Acute lymphoblastic leukemia(192;0.000127)		168			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.503G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706050	0.30232	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	T;T;T	0.75477	-0.44;-0.94;-0.94	5.71	2.57	0.30868	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.525003	0.22127	N	0.064260	T	0.38532	0.1044	N	0.00608	-1.33	0.28815	N	0.898025	B;B	0.28258	0.205;0.171	B;B	0.28385	0.036;0.089	T	0.37979	-0.9682	10	0.23302	T	0.38	.	7.0966	0.25313	0.0:0.5376:0.0:0.4624	.	153;168	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	M	48;168;153	ENSP00000359916:R48M;ENSP00000298542:R168M;ENSP00000417996:R153M	ENSP00000298542:R168M	R	-	2	0	FRMD7	131047432	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.424000	0.34848	0.582000	0.29556	0.600000	0.82982	AGG		PASS	0.502	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		4	20	4	20	---	---	---	---
MIR892A	100126342	broad.mit.edu	37	X	145076364	145076364	+	RNA	SNP	G	G	T			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chrX:145076364G>T	ENST00000401124.1	-	0	75				MIR888_ENST00000401186.1_RNA|MIR892B_ENST00000401279.1_RNA|hsa-mir-892c_ENST00000516410.1_RNA|MIR890_ENST00000401256.1_RNA	NR_030584.1				microRNA 892a																		ACAGCTTTTTGAGTAGAGCAC	0.498																																						hsa-mir-888|MI0005537																			0					0															71.0	51.0	57.0					X																	145076364		1568	3582	5150			100126306							g.chrX:145076364G>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145076364G>T						MIR890_hsa-mir-890|MI0005533_5'Flank										-									RNA	SNP	ENST00000401124.1	37	c.15G>T																																																																																					PASS	0.498	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		12	4	12	4	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16889470	16889472	+	3'UTR	DEL	ACA	ACA	-	rs35438508		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:16889470_16889472delACA	ENST00000430580.2	-	0	5273_5275					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		accatcaatgacaacaacaaaaa	0.34																																						uc001ayw.2																			0													Homo sapiens AB5 mRNA, 3' untranslated region.																																				SO:0001624	3_prime_UTR_variant	0							g.chr1:16889470_16889472delACA	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*968TGT>-	1.37:g.16889476_16889478delACA														1		-								Q8N4E8|Q9C0H0	RNA	DEL	ENST00000430580.2	37	c.611_613delTGT																																																																																						0.340	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		4	2	4	2	---	---	---	---
LOC101927587	101927587	broad.mit.edu	37	1	84042375	84042376	+	lincRNA	INS	-	-	T	rs112376435		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:84042375_84042376insT	ENST00000417975.1	-	0	2259_2260																											cttttgtgcacttttttttttt	0.416																																						uc001diz.3																			0													Homo sapiens cDNA clone IMAGE:4815396.																																						0							g.chr1:84042375_84042376insT																													1.37:g.84042386_84042386dupT														3		-									RNA	INS	ENST00000417975.1	37	c.2260_2261insA																																																																																						0.416	RP11-475O6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000027492.1			4	2	4	2	---	---	---	---
KIF28P	100130097	broad.mit.edu	37	1	246939610	246939611	+	RNA	INS	-	-	TATT	rs3838991|rs66927148|rs528042799|rs56887415	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr1:246939610_246939611insTATT	ENST00000451123.1	-	0	1239				RP11-439E19.10_ENST00000567832.1_RNA|RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA																							GGGCATCTCTATATTTATTTTG	0.46														2380	0.47524	0.497	0.5216	5008	,	,		19239	0.4038		0.4503	False		,,,				2504	0.5123					uc001ibs.1																			0					0								Homo sapiens cDNA FLJ12763 fis, clone NT2RP2001450.																																						149134							g.chr1:246939610_246939611insTATT																													1.37:g.246939615_246939618dupTATT														1		+									RNA	INS	ENST00000451123.1	37	c.296_297insTATT																																																																																						0.460	RP11-439E19.8-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000331247.2			3	4	3	4	---	---	---	---
Unknown	0	broad.mit.edu	37	3	195438500	195438502	+	IGR	DEL	AAG	AAG	-			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr3:195438500_195438502delAAG								MIR570 (12132 upstream) : MUC20 (9250 downstream)																							GAGGAGAATAAAGAAGAGAGCCT	0.567																																						uc003fux.1																			0													Homo sapiens cDNA FLJ46488 fis, clone THYMU3026869.																																				SO:0001628	intergenic_variant	0							g.chr3:195438500_195438502delAAG																													3.37:g.195438503_195438505delAAG														3		+									RNA	DEL		37	c.2487_2489delAAG																																																																																				0		0.567									7	5	7	5	---	---	---	---
ZSWIM6	57688	broad.mit.edu	37	5	60831400	60831400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr5:60831400delC	ENST00000252744.5	+	10	2335	c.2335delC	c.(2335-2337)cctfs	p.P779fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	779					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CTCTCTCCTACCTCACGATGC	0.502																																						uc003jsr.2																			0					0						c.(2335-2337)CCTfs		zinc finger, SWIM-type containing 6							226.0	181.0	195.0					5																	60831400		692	1591	2283	SO:0001589	frameshift_variant	57688						zinc ion binding	g.chr5:60831400delC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2335delC	5.37:g.60831400delC	ENSP00000252744:p.Pro779fs						p.P779fs	NM_020928	NP_065979	Q9HCJ5	ZSWM6_HUMAN			10	2335	+			779						Frame_Shift_Del	DEL	ENST00000252744.5	37	c.2335delC	CCDS47215.1																																																																																					0.502	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928		4	2	4	2	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110461578	110461578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr8:110461578delG	ENST00000378402.5	+	40	6141	c.6037delG	c.(6037-6039)gggfs	p.G2014fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2014	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGCTTTGGTGGGGGTCAAAC	0.333										HNSCC(38;0.096)																												uc003yne.2																			0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(6037-6039)GGGfs		fibrocystin L precursor							46.0	44.0	44.0					8																	110461578		1809	4066	5875	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110461578delG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6037delG	8.37:g.110461578delG	ENSP00000367655:p.Gly2014fs	HNSCC(38;0.096)					p.G2013fs	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		40	6141	+			2013			Extracellular (Potential).|IPT/TIG 13.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.6037delG	CCDS47911.1																																																																																					0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	12	20	12	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971019	21971019	+	Frame_Shift_Del	DEL	C	C	-	rs575031539|rs387906410		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr9:21971019delC	ENST00000304494.5	-	2	609	c.339delG	c.(337-339)ctgfs	p.L113fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L62fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L62fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.A169fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L62fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.A128fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.A128fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L113fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L62fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L113fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L62fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L113fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	113					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTCCACGGGCAGACGGCCCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1365	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - coding silent(1)	p.0?(1112)|p.?(13)|p.H83fs*2(2)|p.L113L(1)|p.L113M(1)|p.A68fs*3(1)|p.L113P(1)|p.R112fs*32(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(337-339)CTGfs		cyclin-dependent kinase inhibitor 2A isoform 1							20.0	22.0	22.0					9																	21971019		2200	4298	6498	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971019delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.339delG	9.37:g.21971019delC	ENSP00000307101:p.Leu113fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.A169fs	p.L113fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	551	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	113			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.339delG	CCDS6510.1																																																																																					0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	5	7	5	---	---	---	---
IDI1	3422	broad.mit.edu	37	10	1089534	1089534	+	Intron	DEL	A	A	-			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:1089534delA	ENST00000381344.3	-	3	480				IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_Intron	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1						cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CGAGTGAAGGAAATGGTGATG	0.517																																						uc001ifw.3																			0					0						c.(478-480)GAAfs		Homo sapiens uncharacterized hypothalamus protein HT009 mRNA, complete cds.																																				SO:0001627	intron_variant	55853							g.chr10:1089534delA	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.314-201T>-	10.37:g.1089534delA						C10orf110_uc010qaf.1_RNA|C10orf110_uc001ifx.3_RNA|C10orf110_uc001ify.3_RNA|IDI1_uc001ifz.2_Intron|IDI1_uc001iga.2_Intron|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron	p.E160fs	NR_024628						4	481	+								B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Frame_Shift_Del	DEL	ENST00000381344.3	37	c.479delA	CCDS7056.1																																																																																					0.517	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		4	2	4	2	---	---	---	---
ANXA11	311	broad.mit.edu	37	10	81928846	81928847	+	Frame_Shift_Ins	INS	-	-	G	rs534734419		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr10:81928846_81928847insG	ENST00000438331.1	-	6	921_922	c.439_440insC	c.(439-441)cagfs	p.Q147fs	ANXA11_ENST00000422982.3_Frame_Shift_Ins_p.Q147fs|ANXA11_ENST00000265447.4_Frame_Shift_Ins_p.Q147fs|ANXA11_ENST00000372231.3_Frame_Shift_Ins_p.Q147fs|ANXA11_ENST00000537102.1_Frame_Shift_Ins_p.Q114fs|ANXA11_ENST00000535999.1_Frame_Shift_Ins_p.Q147fs|ANXA11_ENST00000360615.4_Frame_Shift_Ins_p.Q147fs	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	147					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CACTGGTGGCTGCCCAGGGTAG	0.698																																						uc001kbq.1																			0				ovary(1)	1						c.(439-441)CAGfs		annexin A11																																				SO:0001589	frameshift_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81928846_81928847insG	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.440dupC	10.37:g.81928847_81928847dupG	ENSP00000398610:p.Gln147fs					ANXA11_uc010qlx.1_Frame_Shift_Ins_p.Q247fs|ANXA11_uc001kbr.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbs.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbt.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc010qly.1_Frame_Shift_Ins_p.Q114fs|ANXA11_uc009xsq.1_Frame_Shift_Ins_p.Q147fs|ANXA11_uc001kbu.1_Frame_Shift_Ins_p.Q147fs	p.Q147fs	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		6	1264_1265	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		147					B4DVE7	Frame_Shift_Ins	INS	ENST00000438331.1	37	c.439_440insC	CCDS7364.1																																																																																					0.698	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		4	2	4	2	---	---	---	---
OR7E47P	26628	broad.mit.edu	37	12	52501561	52501562	+	RNA	INS	-	-	T	rs113847495	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr12:52501561_52501562insT	ENST00000546390.1	+	0	960_961				AC078864.1_ENST00000582209.1_RNA					olfactory receptor, family 7, subfamily E, member 47 pseudogene																		GTTTTGCTGTCTTTTTTTTTTC	0.436														505	0.100839	0.1233	0.0562	5008	,	,		20149	0.1667		0.0626	False		,,,				2504	0.0736					uc009zme.1																			0													Homo sapiens olfactory receptor, family 7, subfamily E, member 47 pseudogene, mRNA (cDNA clone IMAGE:5590288).																																						0							g.chr12:52501561_52501562insT	X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501571_52501571dupT														3		+									RNA	INS	ENST00000546390.1	37	c.960_961insT																																																																																						0.436	OR7E47P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000405071.1	NG_004128		4	2	4	2	---	---	---	---
NRN1L	123904	broad.mit.edu	37	16	67920066	67920068	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr16:67920066_67920068delGCT	ENST00000339176.3	+	3	501_503	c.402_404delGCT	c.(400-405)acgctg>acg	p.L135del	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_In_Frame_Del_p.C62del	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	135					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ACCAGGAGACGCTGCGGGCTACA	0.675																																						uc002euu.2																			0				central_nervous_system(1)	1						c.(400-405)ACGCTG>ACG		neuritin 1-like precursor																																				SO:0001651	inframe_deletion	123904					anchored to membrane|plasma membrane		g.chr16:67920066_67920068delGCT	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.402_404delGCT	16.37:g.67920066_67920068delGCT	ENSP00000342411:p.Leu135del					EDC4_uc002eut.1_3'UTR	p.L135del	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	3	428_430	+		Ovarian(137;0.192)	135					Q6UWH7	In_Frame_Del	DEL	ENST00000339176.3	37	c.402_404delGCT	CCDS10850.1																																																																																					0.675	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		7	9	7	9	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66122028	66122029	+	IGR	DEL	AA	AA	-	rs374673808		TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr17:66122028_66122029delAA								LINC00674 (10369 upstream) : LRRC37A16P (4361 downstream)																							TTCGTGAGCTaaaaaaaaaaaa	0.297																																						uc002jgq.2																			0					0								Homo sapiens cDNA FLJ33831 fis, clone CTONG2003937.																																				SO:0001628	intergenic_variant	651250							g.chr17:66122028_66122029delAA																													17.37:g.66122038_66122039delAA						LOC651250_uc002kit.2_RNA|LOC651250_uc002jgo.1_Intron		NR_027418						6		+									RNA	DEL		37	c.1151_1152delAA																																																																																				0		0.297									4	2	4	2	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53066664	53066665	+	Intron	INS	-	-	AGTA	rs397967166|rs72476888|rs59038224	byFrequency	TCGA-18-3411-01A-01D-0983-08	TCGA-18-3411-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a9cc303-c7fd-4f40-8933-1636dea99252	5d18da80-61b7-438b-9ad1-ac2e98d0e820	g.chr19:53066664_53066665insAGTA	ENST00000478039.1	+	2	229							Q9NV72	ZN701_HUMAN	zinc finger protein 701						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		cacatgcctgcagtatcaacta	0.475														1352	0.269968	0.4365	0.3415	5008	,	,		16045	0.0417		0.3131	False		,,,				2504	0.1851				NSCLC(89;451 1475 9611 20673 52284)	uc002pzq.2																			0					0								Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds.																																				SO:0001627	intron_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53066664_53066665insAGTA	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000478039.1:c.230-6628->AGTA	19.37:g.53066665_53066668dupAGTA										Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	4		+								A2RRM8|B9EGF2|F5GZM6|Q66K42	RNA	INS	ENST00000478039.1	37	c.3176_3177insAGTA																																																																																						0.475	ZNF701-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000463464.1	NM_018260		4	2	4	2	---	---	---	---
