#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
EXTL1	2134	broad.mit.edu	37	1	26360343	26360343	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:26360343C>G	ENST00000374280.3	+	9	2542	c.1675C>G	c.(1675-1677)Cat>Gat	p.H559D		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	559					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.H559D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTTCTACCATAGGTACAG	0.602																																						uc001blf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1675-1677)CAT>GAT		exostoses-like 1							58.0	60.0	59.0					1																	26360343		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360343C>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1675C>G	1.37:g.26360343C>G	ENSP00000363398:p.His559Asp						p.H559D	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	9	2542	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	559			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1675C>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347778	0.82022	.	.	ENSG00000158008	ENST00000374280	T	0.77489	-1.1	4.88	4.88	0.63580	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.123358	0.53938	D	0.000057	D	0.86855	0.6033	M	0.80982	2.52	0.80722	D	1	P	0.48764	0.915	P	0.58620	0.842	D	0.88072	0.2801	10	0.56958	D	0.05	-13.7858	16.954	0.86253	0.0:1.0:0.0:0.0	.	559	Q92935	EXTL1_HUMAN	D	559	ENSP00000363398:H559D	ENSP00000363398:H559D	H	+	1	0	EXTL1	26232930	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.566000	0.82347	2.527000	0.85204	0.561000	0.74099	CAT		PASS	0.602	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		38	21	38	21	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755344	36755344	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:36755344C>G	ENST00000354618.5	+	5	1948	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	THRAP3_ENST00000469141.2_Missense_Mutation_p.S575C|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	575	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S575C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGATGGACTCTTTTGATGAG	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1723-1725)TCT>TGT		thyroid hormone receptor associated protein 3							71.0	72.0	71.0					1																	36755344		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755344C>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1724C>G	1.37:g.36755344C>G	ENSP00000346634:p.Ser575Cys					THRAP3_uc001caf.3_Missense_Mutation_p.S575C|THRAP3_uc001cag.1_Missense_Mutation_p.S575C	p.S575C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1948	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	575					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1724C>G	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980075	0.53827	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.43152	1.355	0.52099	D	0.999941	D	0.89917	1.0	D	0.71414	0.973	T	0.00641	-1.1631	10	0.48119	T	0.1	-9.6763	19.3088	0.94175	0.0:1.0:0.0:0.0	.	575	Q9Y2W1	TR150_HUMAN	C	575	ENSP00000346634:S575C;ENSP00000433825:S575C	ENSP00000346634:S575C	S	+	2	0	THRAP3	36527931	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.527000	0.60573	2.813000	0.96785	0.561000	0.74099	TCT		PASS	0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		59	46	59	46	---	---	---	---
DMBX1	127343	broad.mit.edu	37	1	46976739	46976739	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:46976739C>A	ENST00000360032.3	+	3	480	c.466C>A	c.(466-468)Cag>Aag	p.Q156K	DMBX1_ENST00000371956.4_Missense_Mutation_p.Q161K	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.Q161K(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCAGATACCCAGCTGGACAC	0.637																																						uc001cpx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CAG>AAG		diencephalon/mesencephalon homeobox 1 isoform b							56.0	68.0	64.0					1																	46976739		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976739C>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.466C>A	1.37:g.46976739C>A	ENSP00000353132:p.Gln156Lys					DMBX1_uc001cpw.2_Missense_Mutation_p.Q156K	p.Q161K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			3	496	+	Acute lymphoblastic leukemia(166;0.155)		161						Missense_Mutation	SNP	ENST00000360032.3	37	c.481C>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810665	0.16537	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93247	-3.12;-3.19	4.84	4.84	0.62591	.	0.390136	0.28555	N	0.014934	D	0.86138	0.5861	L	0.34521	1.04	0.34498	D	0.705761	B;B	0.34399	0.323;0.452	B;B	0.33454	0.05;0.164	D	0.84317	0.0514	10	0.05833	T	0.94	.	10.5671	0.45179	0.0:0.9113:0.0:0.0887	.	161;156	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	K	161;156	ENSP00000361024:Q161K;ENSP00000353132:Q156K	ENSP00000353132:Q156K	Q	+	1	0	DMBX1	46749326	0.998000	0.40836	0.938000	0.37757	0.645000	0.38454	5.510000	0.67018	2.253000	0.74438	0.591000	0.81541	CAG		PASS	0.637	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			55	52	55	52	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104120396	104120396	+	Nonsense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:104120396T>A	ENST00000361355.4	+	11	1891	c.1275T>A	c.(1273-1275)taT>taA	p.Y425*	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	425					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.Y425*(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CAAACTGGTATGATAATGGGA	0.338																																						uc001duq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1273-1275)TAT>TAA		amylase, pancreatic, alpha-2B precursor							106.0	145.0	131.0					1																	104120396		1431	2481	3912	SO:0001587	stop_gained	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120396T>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1275T>A	1.37:g.104120396T>A	ENSP00000354610:p.Tyr425*					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Nonsense_Mutation_p.Y425*|AMY2B_uc001dus.1_RNA	p.Y425*	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	11	1891	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	425					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Nonsense_Mutation	SNP	ENST00000361355.4	37	c.1275T>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	T	42	9.245818	0.99113	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.82	3.89	0.44902	.	0.128283	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.3955	0.67007	0.0:0.0:0.8491:0.1509	.	.	.	.	X	425	.	ENSP00000354610:Y425X	Y	+	3	2	AMY2B	103921919	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	7.894000	0.87336	0.997000	0.38969	-0.742000	0.03525	TAT		PASS	0.338	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		35	217	35	217	---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147131642	147131642	+	Splice_Site	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:147131642C>T	ENST00000369238.6	-	3	796		c.e3-1		ACP6_ENST00000392988.2_Splice_Site	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)	p.?(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACATGCCCCCCTAAAGTAGGG	0.507																																						uc001epr.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e3-1		acid phosphatase 6, lysophosphatidic precursor							65.0	65.0	65.0					1																	147131642		2203	4300	6503	SO:0001630	splice_region_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131642C>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.349-1G>A	1.37:g.147131642C>T						ACP6_uc009wjj.1_Splice_Site_p.G74_splice	p.G117_splice	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			3	813	-	all_hematologic(923;0.0276)							Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Splice_Site	SNP	ENST00000369238.6	37	c.349_splice	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425476	0.83667	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACP6	145598266	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.015000	0.76387	2.656000	0.90262	0.655000	0.94253	.		PASS	0.507	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361	Intron	38	49	38	49	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152080826	152080826	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:152080826C>T	ENST00000368804.1	-	2	4866	c.4867G>A	c.(4867-4869)Gaa>Aaa	p.E1623K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1623	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1623K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCGTCTTCGCGGAATTTT	0.597																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4867-4869)GAA>AAA		trichohyalin							71.0	71.0	71.0					1																	152080826		1922	4137	6059	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080826C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4867G>A	1.37:g.152080826C>T	ENSP00000357794:p.Glu1623Lys					TCHH_uc009wne.1_Missense_Mutation_p.E1623K	p.E1623K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4867	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1623			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4867G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848698	0.32699	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	4.27	0.961	0.19638	.	.	.	.	.	T	0.02012	0.0063	M	0.69358	2.11	0.09310	N	1	D	0.53745	0.962	B	0.39876	0.312	T	0.43829	-0.9367	9	0.13108	T	0.6	-1.2476	7.1495	0.25601	0.1695:0.3845:0.446:0.0	.	1623	Q07283	TRHY_HUMAN	K	1623	ENSP00000357794:E1623K	ENSP00000357794:E1623K	E	-	1	0	TCHH	150347450	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	0.557000	0.23454	0.011000	0.14865	0.467000	0.42956	GAA		PASS	0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		10	189	10	189	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325922	152325922	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:152325922T>C	ENST00000388718.5	-	3	4412	c.4340A>G	c.(4339-4341)cAt>cGt	p.H1447R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1447					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1447R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTTGGCCATGAGTTTGTTC	0.522																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4339-4341)CAT>CGT		filaggrin family member 2							370.0	332.0	345.0					1																	152325922		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325922T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4340A>G	1.37:g.152325922T>C	ENSP00000373370:p.His1447Arg					uc001ezv.2_Intron	p.H1447R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4413	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1447					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4340A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.243977	0.22796	.	.	ENSG00000143520	ENST00000388718	T	0.08458	3.09	3.69	1.25	0.21368	.	.	.	.	.	T	0.01870	0.0059	L	0.46741	1.465	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48163	-0.9059	9	0.13470	T	0.59	-0.9117	5.9011	0.18967	0.0:0.2383:0.0:0.7617	.	1447	Q5D862	FILA2_HUMAN	R	1447	ENSP00000373370:H1447R	ENSP00000373370:H1447R	H	-	2	0	FLG2	150592546	0.105000	0.21958	0.000000	0.03702	0.001000	0.01503	0.853000	0.27777	0.135000	0.18707	0.246000	0.17985	CAT		PASS	0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		262	434	262	434	---	---	---	---
PYGO2	90780	broad.mit.edu	37	1	154931905	154931905	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:154931905C>A	ENST00000368457.2	-	3	742	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C	PYGO2_ENST00000368456.1_Missense_Mutation_p.G154C|PYGO2_ENST00000483463.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	191	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)	p.G191C(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCATGGGACCAAATCCCCCC	0.592																																					NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(571-573)GGT>TGT		pygopus homolog 2							58.0	63.0	61.0					1																	154931905		2203	4300	6503	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154931905C>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.571G>T	1.37:g.154931905C>A	ENSP00000357442:p.Gly191Cys						p.G191C	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	777	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		191			Pro-rich.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.571G>T	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884994	0.51908	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.49720	0.77;0.79	5.05	5.05	0.67936	.	0.324009	0.29438	N	0.012145	T	0.37544	0.1007	N	0.14661	0.345	0.35851	D	0.826738	D	0.76494	0.999	P	0.58454	0.839	T	0.46233	-0.9206	10	0.66056	D	0.02	-6.5717	15.4214	0.75015	0.0:1.0:0.0:0.0	.	191	Q9BRQ0	PYGO2_HUMAN	C	191;154	ENSP00000357442:G191C;ENSP00000357441:G154C	ENSP00000357441:G154C	G	-	1	0	PYGO2	153198529	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.627000	0.54252	2.628000	0.89032	0.462000	0.41574	GGT		PASS	0.592	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		20	119	20	119	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158590100	158590101	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:158590100_158590101CC>AA	ENST00000368147.4	-	44	6456_6457	c.6276_6277GG>TT	c.(6274-6279)ctGGct>ctTTct	p.A2093S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2093					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.A2093S(2)|p.L2092L(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)					TGAGCCCTAGCCAGGGAGGCCA	0.495																																						uc001fst.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6277-6279)GCT>TCT|c.(6274-6276)CTG>CTT		spectrin, alpha, erythrocytic 1																																				SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590100C>A|g.chr1:158590101C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6276_6277delinsAA	1.37:g.158590100_158590101delinsAA	ENSP00000357129:p.Ala2093Ser						p.A2093S|p.L2092L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6476|6475	-	all_hematologic(112;0.0378)		2093|2092			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation|Silent	SNP	ENST00000368147.4	37	c.6277G>T|c.6276G>T	CCDS41423.1																																																																																				PASS	0.495	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		59	77|75	59	75	---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179528818	179528818	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:179528818T>G	ENST00000367615.4	-	4	598	c.530A>C	c.(529-531)cAt>cCt	p.H177P	NPHS2_ENST00000367616.4_Missense_Mutation_p.H177P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	177					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.H177P(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTTACCTCATGAAAAGGTAT	0.393																																						uc001gmq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CAT>CCT		podocin							54.0	48.0	50.0					1																	179528818		2203	4298	6501	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179528818T>G	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.530A>C	1.37:g.179528818T>G	ENSP00000356587:p.His177Pro					NPHS2_uc009wxi.2_Missense_Mutation_p.H177P	p.H177P	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			4	615	-			177			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.530A>C	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157349	0.57259	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.92752	-3.1;-3.1	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.953	D	0.94721	0.7901	10	0.87932	D	0	-13.4649	14.3172	0.66460	0.0:0.0:0.0:1.0	.	177;177	Q9NP85-2;Q9NP85	.;PODO_HUMAN	P	177	ENSP00000356587:H177P;ENSP00000356588:H177P	ENSP00000356587:H177P	H	-	2	0	NPHS2	177795441	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.941000	0.70195	2.065000	0.61736	0.459000	0.35465	CAT		PASS	0.393	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			5	18	5	18	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183086559	183086559	+	Silent	SNP	C	C	A	rs150392886	byFrequency	TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:183086559C>A	ENST00000258341.4	+	9	1926	c.1669C>A	c.(1669-1671)Cgg>Agg	p.R557R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	557	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R557R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTACTTTCCTCGGTACTTCAT	0.517																																						uc001gpy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(1669-1671)CGG>AGG		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						131.0	110.0	117.0					1																	183086559		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086559C>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1669C>A	1.37:g.183086559C>A							p.R557R	NM_002293	NP_002284	P11047	LAMC1_HUMAN			9	1926	+			557			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1669C>A	CCDS1351.1																																																																																				PASS	0.517	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	76	3	76	---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200017366	200017366	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:200017366C>A	ENST00000367362.3	+	5	776	c.530C>A	c.(529-531)gCc>gAc	p.A177D	NR5A2_ENST00000236914.3_Missense_Mutation_p.A131D|NR5A2_ENST00000544748.1_Missense_Mutation_p.A105D	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	177					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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 transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A177D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGAGACAGGGCCCTGAAGCAA	0.537																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(529-531)GCC>GAC		nuclear receptor subfamily 5, group A, member 2							121.0	116.0	118.0					1																	200017366		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017366C>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.530C>A	1.37:g.200017366C>A	ENSP00000356331:p.Ala177Asp					NR5A2_uc001gvc.2_Missense_Mutation_p.A131D|NR5A2_uc009wzh.2_Missense_Mutation_p.A137D|NR5A2_uc010pph.1_Missense_Mutation_p.A105D	p.A177D	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	736	+	Prostate(682;0.19)		177			FTZ-F1 box.		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.530C>A	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.036386|5.036386	0.93630|0.93630	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.94687|.	-3.44;-3.49;-3.48|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78916|0.78916	0.4359|0.4359	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;P|.	0.58620|.	0.983;0.891|.	D;P|.	0.64144|.	0.922;0.536|.	T|T	0.77227|0.77227	-0.2665|-0.2665	9|5	.|.	.|.	.|.	.|.	20.3316|20.3316	0.98722|0.98722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	131;177|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	D|T	177;131;105;97|98	ENSP00000356331:A177D;ENSP00000236914:A131D;ENSP00000439116:A105D|.	.|.	A|P	+|+	2|1	0|0	NR5A2|NR5A2	198283989|198283989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.725000|7.725000	0.84808|0.84808	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GCC|CCC		PASS	0.537	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			87	126	87	126	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204199696	204199696	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:204199696C>T	ENST00000272203.3	-	18	2744	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.V830M	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	810								p.V810M(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCAGGAAACACAGCACTCTTG	0.572																																						uc001hau.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2428-2430)GTG>ATG		phosphoinositol 3-phosphate-binding protein-3							37.0	30.0	33.0					1																	204199696		2203	4299	6502	SO:0001583	missense	22874							g.chr1:204199696C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2428G>A	1.37:g.204199696C>T	ENSP00000272203:p.Val810Met						p.V810M	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		18	2745	-	all_cancers(21;0.0222)|Breast(84;0.179)		810					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2428G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801451	0.31869	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.16743	2.32;2.79	5.24	2.26	0.28386	.	0.209202	0.40222	N	0.001153	T	0.14270	0.0345	L	0.52759	1.655	0.40051	D	0.975775	P	0.34462	0.454	B	0.36030	0.216	T	0.07009	-1.0795	10	0.62326	D	0.03	-6.3423	3.4925	0.07642	0.1292:0.5777:0.1423:0.1508	.	810	Q9Y2H5	PKHA6_HUMAN	M	810;830	ENSP00000272203:V810M;ENSP00000402046:V830M	ENSP00000272203:V810M	V	-	1	0	PLEKHA6	202466319	0.985000	0.35326	0.076000	0.20297	0.083000	0.17756	2.636000	0.46545	0.564000	0.29238	0.462000	0.41574	GTG		PASS	0.572	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		11	11	11	11	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243328002	243328002	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:243328002C>A	ENST00000366542.1	-	13	3311	c.3260G>T	c.(3259-3261)aGt>aTt	p.S1087I	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.S989I|CEP170_ENST00000366544.1_Missense_Mutation_p.S989I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1087	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S1087I(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTTGATTTACTAGATGAACC	0.488																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3259-3261)AGT>ATT		centrosomal protein 170kDa isoform alpha							62.0	59.0	60.0					1																	243328002		1930	4124	6054	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328002C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3260G>T	1.37:g.243328002C>A	ENSP00000355500:p.Ser1087Ile					CEP170_uc001hzt.2_Missense_Mutation_p.S989I|CEP170_uc001hzu.2_Missense_Mutation_p.S989I|CEP170_uc001hzv.1_Missense_Mutation_p.S465I	p.S1087I	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3668	-	all_neural(11;0.101)	all_cancers(173;0.003)	1087			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3260G>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.411022|2.411022	0.42817|0.42817	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008|ENST00000336415	T;T;T|.	0.52983|.	0.77;0.75;0.64|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.221234|.	0.53938|.	D|.	0.000053|.	T|T	0.54062|0.54062	0.1835|0.1835	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.986;0.986;0.991|.	D;P;P;P|.	0.66196|.	0.942;0.663;0.744;0.774|.	T|T	0.50466|0.50466	-0.8825|-0.8825	10|5	0.66056|.	D|.	0.02|.	-11.0681|-11.0681	17.378|17.378	0.87398|0.87398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1050;989;989;1087|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	I|L	1087;989;989;48|1051	ENSP00000355500:S1087I;ENSP00000355502:S989I;ENSP00000355501:S989I|.	ENSP00000355500:S1087I|.	S|V	-|-	2|1	0|0	CEP170|CEP170	241394625|241394625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	2.594000|2.594000	0.46189|0.46189	2.318000|2.318000	0.78349|0.78349	0.555000|0.555000	0.69702|0.69702	AGT|GTA		PASS	0.488	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		40	82	40	82	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247751962	247751962	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:247751962T>A	ENST00000320065.1	+	1	301	c.301T>A	c.(301-303)Ttg>Atg	p.L101M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L101M(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGTGGCTGTTTGGTTCACCT	0.552																																						uc010pyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)TTG>ATG		olfactory receptor, family 2, subfamily G,							221.0	175.0	190.0					1																	247751962		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751962T>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.301T>A	1.37:g.247751962T>A	ENSP00000326349:p.Leu101Met						p.L101M	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	301	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		101			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.301T>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.945245	0.00479	.	.	ENSG00000177489	ENST00000320065	T	0.01388	4.95	4.29	0.956	0.19608	GPCR, rhodopsin-like superfamily (1);	0.621539	0.11959	U	0.512943	T	0.00936	0.0031	N	0.10837	0.055	0.09310	N	1	B	0.21753	0.06	B	0.26094	0.066	T	0.48854	-0.8998	10	0.44086	T	0.13	.	2.5015	0.04635	0.2905:0.0:0.3279:0.3816	.	101	Q8NGZ5	OR2G2_HUMAN	M	101	ENSP00000326349:L101M	ENSP00000326349:L101M	L	+	1	2	OR2G2	245818585	0.000000	0.05858	0.064000	0.19789	0.007000	0.05969	-2.837000	0.00740	0.079000	0.16929	-0.187000	0.12897	TTG		PASS	0.552	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			89	191	89	191	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652640	1652640	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:1652640A>G	ENST00000252804.4	-	17	2962	c.2912T>C	c.(2911-2913)tTc>tCc	p.F971S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	971					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F971S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGGCCAGGAAGCAGGGGAT	0.697																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2911-2913)TTC>TCC		peroxidasin precursor							16.0	17.0	17.0					2																	1652640		2093	4192	6285	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652640A>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2912T>C	2.37:g.1652640A>G	ENSP00000252804:p.Phe971Ser						p.F971S	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2976	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	971					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2912T>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453156	0.84209	.	.	ENSG00000130508	ENST00000252804	T	0.75477	-0.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90544	0.4504	10	0.87932	D	0	-42.0064	15.3791	0.74637	1.0:0.0:0.0:0.0	.	971	Q92626	PXDN_HUMAN	S	971	ENSP00000252804:F971S	ENSP00000252804:F971S	F	-	2	0	PXDN	1631647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.034000	0.60081	0.456000	0.33151	TTC		PASS	0.697	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		3	18	3	18	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11337440	11337440	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:11337440A>G	ENST00000315872.6	-	27	3762	c.3314T>C	c.(3313-3315)cTg>cCg	p.L1105P	ROCK2_ENST00000401753.1_Missense_Mutation_p.L862P	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1105					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.L1105P(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTCATCTGCAGTTCAATTCG	0.393																																						uc002rbd.1																			2	Substitution - Missense(2)		lung(2)	stomach(2)|skin(2)	4						c.(3313-3315)CTG>CCG		Rho-associated, coiled-coil containing protein							123.0	113.0	116.0					2																	11337440		1933	4139	6072	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337440A>G	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3314T>C	2.37:g.11337440A>G	ENSP00000317985:p.Leu1105Pro						p.L1105P	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3763	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1105			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3314T>C	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376741	0.82682	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.69561	-0.41;0.61	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.81588	0.4854	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83755	0.0211	10	0.72032	D	0.01	.	16.0084	0.80380	1.0:0.0:0.0:0.0	.	1105	O75116	ROCK2_HUMAN	P	1105;862;463	ENSP00000317985:L1105P;ENSP00000385509:L862P	ENSP00000317985:L1105P	L	-	2	0	ROCK2	11254891	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.327000	0.96396	2.180000	0.69256	0.460000	0.39030	CTG		PASS	0.393	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			6	183	6	183	---	---	---	---
PKDCC	91461	broad.mit.edu	37	2	42281206	42281206	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:42281206C>A	ENST00000294964.5	+	3	973	c.793C>A	c.(793-795)Cac>Aac	p.H265N		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic									p.H265N(1)|p.H122N(1)		breast(2)|kidney(1)|lung(5)	8						CCTCCTCCACCACCTGGCCCA	0.627																																						uc002rsg.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(793-795)CAC>AAC		protein kinase-like protein SgK493							63.0	67.0	66.0					2																	42281206		2203	4300	6503	SO:0001583	missense	91461				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	g.chr2:42281206C>A		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.793C>A	2.37:g.42281206C>A	ENSP00000294964:p.His265Asn						p.H265N	NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN			3	972	+			265			Protein kinase.			Missense_Mutation	SNP	ENST00000294964.5	37	c.793C>A	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619123	0.66787	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.08	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154508	0.64402	D	0.000014	T	0.48295	0.1492	L	0.52126	1.63	0.36667	D	0.8783	P	0.48911	0.917	P	0.45577	0.486	T	0.58736	-0.7584	9	0.87932	D	0	-22.2406	7.0828	0.25241	0.0:0.7247:0.0:0.2753	.	265	Q504Y2	PKDCC_HUMAN	N	265	.	ENSP00000294964:H265N	H	+	1	0	PKDCC	42134710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.674000	0.61612	1.110000	0.41699	0.561000	0.74099	CAC		PASS	0.627	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			9	130	9	130	---	---	---	---
ANXA4	307	broad.mit.edu	37	2	70015273	70015273	+	Splice_Site	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:70015273G>T	ENST00000394295.4	+	3	345	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C	ANXA4_ENST00000409920.1_Splice_Site_p.G33C|ANXA4_ENST00000536030.1_Intron	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	31					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.G33C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAAAGGGCTCGGTATGTGTCC	0.547																																						uc002sfr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GGC>TGC		annexin IV							106.0	93.0	98.0					2																	70015273		2203	4300	6503	SO:0001630	splice_region_variant	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70015273G>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.97+1G>T	2.37:g.70015273G>T						ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.G33C|ANXA4_uc010yqo.1_Intron	p.G33C	NM_001153	NP_001144	P09525	ANXA4_HUMAN			3	324	+			31			Annexin 1.		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.97G>T	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618154	0.66787	.	.	ENSG00000196975	ENST00000409920;ENST00000394295	T;T	0.08807	3.05;3.05	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69888	-0.5023	10	0.87932	D	0	.	15.4962	0.75653	0.0:0.0:1.0:0.0	.	33;33	Q6P452;Q6LES2	.;.	C	33	ENSP00000386756:G33C;ENSP00000377833:G33C	ENSP00000377833:G33C	G	+	1	0	ANXA4	69868777	1.000000	0.71417	0.948000	0.38648	0.512000	0.34134	4.791000	0.62460	2.744000	0.94065	0.561000	0.74099	GGC		PASS	0.547	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153	Missense_Mutation	35	76	35	76	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303202	73303202	+	Silent	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:73303202G>C	ENST00000258098.6	-	4	1917	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	559					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L559L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGACTGTTTTGAGCTTCTCCA	0.632																																						uc002siu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1675-1677)CTC>CTG		RAB11 family interacting protein 5 (class I)							140.0	143.0	142.0					2																	73303202		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303202G>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1677C>G	2.37:g.73303202G>C						RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.L481L	p.L559L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			4	1918	-			559					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.1677C>G	CCDS1923.1																																																																																				PASS	0.632	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		204	315	204	315	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73718019	73718019	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:73718019A>G	ENST00000264448.6	+	10	9041	c.8930A>G	c.(8929-8931)gAc>gGc	p.D2977G	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2935G|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2977					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D2977G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTGTAGATGACCAAATGAAT	0.403																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(8935-8937)GAC>GGC		Alstrom syndrome 1							128.0	121.0	123.0					2																	73718019		1884	4110	5994	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718019A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8930A>G	2.37:g.73718019A>G	ENSP00000264448:p.Asp2977Gly					ALMS1_uc002sjf.1_Missense_Mutation_p.D2935G|ALMS1_uc002sjg.2_Missense_Mutation_p.D2365G|ALMS1_uc002sjh.1_Missense_Mutation_p.D2365G	p.D2979G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9047	+			2977					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8936A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	0.265	-0.996934	0.02145	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06294	3.32;3.32	4.03	0.136	0.14780	.	0.646058	0.14575	N	0.311218	T	0.02610	0.0079	N	0.11427	0.14	0.23010	N	0.998434	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.47636	-0.9102	10	0.13108	T	0.6	.	4.3386	0.11099	0.4665:0.4161:0.1175:0.0	.	2977;2935;2977	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	2935;2977	ENSP00000386627:D2935G;ENSP00000264448:D2977G	ENSP00000264448:D2977G	D	+	2	0	ALMS1	73571527	0.778000	0.28640	0.305000	0.25099	0.057000	0.15508	0.462000	0.21956	0.026000	0.15269	0.528000	0.53228	GAC		PASS	0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		111	213	111	213	---	---	---	---
TXNDC9	10190	broad.mit.edu	37	2	99938551	99938551	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:99938551G>T	ENST00000264255.3	-	4	685	c.430C>A	c.(430-432)Ccc>Acc	p.P144T	TXNDC9_ENST00000409434.1_Missense_Mutation_p.P144T|C2orf15_ENST00000465095.1_Intron|TXNDC9_ENST00000434323.1_3'UTR	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	144	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)		p.P144T(1)		lung(1)	1						GCTAGTGTGGGAATGACTTTG	0.393																																						uc002szz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)CCC>ACC		thioredoxin domain containing 9							156.0	148.0	151.0					2																	99938551		2203	4300	6503	SO:0001583	missense	10190				cell redox homeostasis		protein binding	g.chr2:99938551G>T	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.430C>A	2.37:g.99938551G>T	ENSP00000264255:p.Pro144Thr					MRPL30_uc002szl.1_Intron|TXNDC9_uc010yvp.1_Missense_Mutation_p.P161T|TXNDC9_uc002taa.1_Missense_Mutation_p.P144T	p.P144T	NM_005783	NP_005774	O14530	TXND9_HUMAN			4	621	-			144			Thioredoxin.		B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Missense_Mutation	SNP	ENST00000264255.3	37	c.430C>A	CCDS2044.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778559	0.90195	.	.	ENSG00000115514	ENST00000540776;ENST00000264255;ENST00000409434	T;T	0.78246	-1.16;-1.16	5.36	5.36	0.76844	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96202	0.9146	9	.	.	.	-8.5668	19.445	0.94843	0.0:0.0:1.0:0.0	.	161;144	B7Z7A4;O14530	.;TXND9_HUMAN	T	161;144;144	ENSP00000264255:P144T;ENSP00000387275:P144T	.	P	-	1	0	TXNDC9	99304983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.388000	0.97237	2.668000	0.90789	0.549000	0.68633	CCC		PASS	0.393	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		96	228	96	228	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100915388	100915388	+	Silent	SNP	C	C	G	rs114518866		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:100915388C>G	ENST00000393437.3	-	7	2025	c.1386G>C	c.(1384-1386)acG>acC	p.T462T	LONRF2_ENST00000409647.1_Silent_p.T219T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	462							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.T462T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTCCACAGGGCGTAGTGACAG	0.448																																						uc002tal.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1384-1386)ACG>ACC		LON peptidase N-terminal domain and ring finger							133.0	139.0	137.0					2																	100915388		2203	4300	6503	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100915388C>G	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1386G>C	2.37:g.100915388C>G						LONRF2_uc010yvs.1_RNA	p.T462T	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			7	2026	-			462			RING-type.|TPR 6.		B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.1386G>C	CCDS2046.2																																																																																				PASS	0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		44	127	44	127	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832979	130832979	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:130832979T>C	ENST00000409914.2	-	17	2465	c.2066A>G	c.(2065-2067)aAt>aGt	p.N689S	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.N689S	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	689					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N689S(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTTAAAAGATTATCATTCCT	0.433																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(2065-2067)AAT>AGT		prostate, ovary, testis expressed protein on							43.0	44.0	44.0					2																	130832979		2165	4275	6440	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832979T>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2066A>G	2.37:g.130832979T>C	ENSP00000386786:p.Asn689Ser						p.N689S	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2466	-			689			Potential.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2066A>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.520	0.464138	0.12402	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.13538	2.58;2.58	0.993	-1.99	0.07457	.	.	.	.	.	T	0.05318	0.0141	N	0.05230	-0.09	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.35051	-0.9804	9	0.87932	D	0	.	2.1625	0.03828	0.0:0.261:0.3261:0.4129	.	689	A5A3E0	POTEF_HUMAN	S	689	ENSP00000350052:N689S;ENSP00000386786:N689S	ENSP00000350052:N689S	N	-	2	0	POTEF	130549449	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.018000	0.13422	-0.798000	0.04444	0.155000	0.16302	AAT		PASS	0.433	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		46	42	46	42	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155098615	155098615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:155098615G>A	ENST00000392825.3	+	5	951	c.384G>A	c.(382-384)tgG>tgA	p.W128*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.W128*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	128	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.W128*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGAAGCTTGGAGCACTCTCC	0.398																																						uc002tyr.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(382-384)TGG>TGA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							126.0	115.0	118.0					2																	155098615		2203	4300	6503	SO:0001587	stop_gained	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098615G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.384G>A	2.37:g.155098615G>A	ENSP00000376570:p.Trp128*					GALNT13_uc002tyt.3_Nonsense_Mutation_p.W128*|GALNT13_uc010foc.1_5'UTR	p.W128*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			5	951	+			128			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Nonsense_Mutation	SNP	ENST00000392825.3	37	c.384G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	43	10.129467	0.99343	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1371	0.89623	0.0:0.0:1.0:0.0	.	.	.	.	X	128	.	ENSP00000376570:W128X	W	+	3	0	GALNT13	154806861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.621000	0.88768	0.579000	0.79373	TGG		PASS	0.398	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		55	55	55	55	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163059394	163059394	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:163059394G>A	ENST00000188790.4	-	14	1418	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	FAP_ENST00000443424.1_Missense_Mutation_p.T379I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.T404I(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						TGAATCCTGTGTTACTCTGAA	0.368																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1210-1212)ACA>ATA		fibroblast activation protein, alpha subunit							152.0	137.0	142.0					2																	163059394		2203	4300	6503	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.chr2:163059394G>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.1211C>T	2.37:g.163059394G>A	ENSP00000188790:p.Thr404Ile					FAP_uc010zct.1_Missense_Mutation_p.T379I|FAP_uc010fpd.2_Intron	p.T404I	NM_004460	NP_004451	Q12884	SEPR_HUMAN			14	1419	-			404			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1211C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334391	0.81801	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96011	-3.88;1.5	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.045911	0.85682	D	0.000000	D	0.97742	0.9259	M	0.80183	2.485	0.80722	D	1	P;D	0.65815	0.621;0.995	P;D	0.65573	0.593;0.936	D	0.97905	1.0305	10	0.87932	D	0	-19.8122	20.3011	0.98612	0.0:0.0:1.0:0.0	.	379;404	B4DLR2;Q12884	.;SEPR_HUMAN	I	404;379	ENSP00000188790:T404I;ENSP00000411391:T379I	ENSP00000188790:T404I	T	-	2	0	FAP	162767640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.250000	0.78287	2.804000	0.96469	0.650000	0.86243	ACA		PASS	0.368	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			43	167	43	167	---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175436644	175436644	+	Missense_Mutation	SNP	T	T	C	rs146135868		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:175436644T>C	ENST00000392547.2	-	5	988	c.889A>G	c.(889-891)Act>Gct	p.T297A	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.T297A|WIPF1_ENST00000359761.3_Missense_Mutation_p.T297A|WIPF1_ENST00000392546.2_Missense_Mutation_p.T297A|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409415.3_Missense_Mutation_p.T297A|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.T297A	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	297	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.T297A(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGCCGCGGAGTGGAAGGCACT	0.682																																						uc002uiy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(889-891)ACT>GCT		WAS/WASL interacting protein family, member 1							28.0	33.0	31.0					2																	175436644		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436644T>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.889A>G	2.37:g.175436644T>C	ENSP00000376330:p.Thr297Ala					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T297A|WIPF1_uc010fqt.1_Missense_Mutation_p.T297A|WIPF1_uc002ujc.1_Missense_Mutation_p.T297A|WIPF1_uc002uiz.2_Missense_Mutation_p.T297A|WIPF1_uc002ujb.1_Missense_Mutation_p.T297A|WIPF1_uc010zep.1_Missense_Mutation_p.T297A	p.T297A	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	1221	-			297			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.889A>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	T	2.137	-0.397687	0.04899	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.42513	1.54;1.54;1.54;1.54;0.97;0.98	4.38	4.38	0.52667	.	0.447865	0.22637	N	0.057520	T	0.26268	0.0641	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.10450	0.005;0.004;0.005;0.002	T	0.05402	-1.0887	10	0.06891	T	0.86	.	9.5804	0.39484	0.1569:0.0:0.0:0.8431	.	297;297;297;297	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	A	297	ENSP00000376330:T297A;ENSP00000272746:T297A;ENSP00000352802:T297A;ENSP00000376329:T297A;ENSP00000386431:T297A;ENSP00000387150:T297A	ENSP00000272746:T297A	T	-	1	0	WIPF1	175144890	1.000000	0.71417	0.997000	0.53966	0.142000	0.21351	0.970000	0.29383	1.616000	0.50265	0.352000	0.21897	ACT		PASS	0.682	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		21	11	21	11	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					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.L30F(5)		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)			CTTACTCCAAGATCTATATCT	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		5	Substitution - Missense(5)		lung(3)|oesophagus(1)|skin(1)	central_nervous_system(1)	1						c.(88-90)CTT>TTT		nuclear factor erythroid 2-like 2 isoform 1							68.0	61.0	63.0					2																	178098957		1842	4101	5943	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.chr2:178098957G>A		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.88C>T	2.37:g.178098957G>A	ENSP00000380252:p.Leu30Phe	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F	p.L30F	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	643	-			30					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.88C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298628	0.81025	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	F	14;30;14;14;14;14;14	ENSP00000380253:L14F;ENSP00000380252:L30F;ENSP00000411575:L14F;ENSP00000391590:L14F;ENSP00000400073:L14F;ENSP00000412191:L14F;ENSP00000410015:L14F	ENSP00000380252:L30F	L	-	1	0	NFE2L2	177807203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CTT		PASS	0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		40	30	40	30	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179489294	179489294	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:179489294T>C	ENST00000591111.1	-	192	40014	c.39790A>G	c.(39790-39792)Agg>Ggg	p.R13264G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R14905G|TTN_ENST00000342175.6_Missense_Mutation_p.R6032G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5965G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5840G|TTN_ENST00000342992.6_Missense_Mutation_p.R12337G			Q8WZ42	TITIN_HUMAN	titin	13264	Ig-like 88.				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.R12337G(2)|p.R6032G(1)|p.R5965G(1)|p.R5840G(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)			TTTCTGACCCTGCCATCAGCA	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	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.(37009-37011)AGG>GGG		titin isoform N2-A							121.0	119.0	119.0					2																	179489294		1893	4097	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489294T>C	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.39790A>G	2.37:g.179489294T>C	ENSP00000465570:p.Arg13264Gly					TTN_uc010zfh.1_Missense_Mutation_p.R6032G|TTN_uc010zfi.1_Missense_Mutation_p.R5965G|TTN_uc010zfj.1_Missense_Mutation_p.R5840G	p.R12337G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		191	37233	-			13264					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.37009A>G		.	.	.	.	.	.	.	.	.	.	T	12.42	1.933207	0.34096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49898	0.1584	N	0.16037	0.36	0.35461	D	0.796506	P;P;P;P	0.36354	0.549;0.549;0.549;0.549	B;B;B;B	0.37091	0.241;0.241;0.241;0.129	T	0.64744	-0.6335	9	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	5840;5965;6032;13264	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12337;5840;6032;5965;5840	ENSP00000343764:R12337G;ENSP00000434586:R5840G;ENSP00000340554:R6032G;ENSP00000352154:R5965G	ENSP00000340554:R6032G	R	-	1	2	TTN	179197539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.529000	0.53532	2.323000	0.78572	0.528000	0.53228	AGG		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	43	63	43	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179579804	179579804	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:179579804C>A	ENST00000591111.1	-	88	25382	c.25158G>T	c.(25156-25158)ctG>ctT	p.L8386L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.L8703L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L7459L			Q8WZ42	TITIN_HUMAN	titin	12560	Ig-like 66.				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.L7459L(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)			CATCGACATTCAGGATGTGGA	0.448																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22375-22377)CTG>CTT		titin isoform N2-A							280.0	272.0	275.0					2																	179579804		1968	4155	6123	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579804C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25158G>T	2.37:g.179579804C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L4120L	p.L7459L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22601	-			8386					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.22377G>T																																																																																					PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		207	99	207	99	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200298128	200298128	+	Silent	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:200298128A>G	ENST00000417098.1	-	3	1095	c.279T>C	c.(277-279)ttT>ttC	p.F93F	SATB2_ENST00000428695.1_Silent_p.F93F|SATB2_ENST00000457245.1_Silent_p.F93F|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Silent_p.F93F	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	93					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.F93F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGCTGGCTAAAAAGCACAT	0.547																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(277-279)TTT>TTC		SATB homeobox 2							112.0	109.0	110.0					2																	200298128		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298128A>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.279T>C	2.37:g.200298128A>G						SATB2_uc010fsq.1_Silent_p.F93F|SATB2_uc002uuz.1_Silent_p.F93F|SATB2_uc002uva.1_Silent_p.F93F	p.F93F	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			3	1096	-			93					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.279T>C	CCDS2327.1																																																																																				PASS	0.547	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		3	119	3	119	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220405116	220405116	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr2:220405116C>T	ENST00000243776.6	-	4	1565	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	CHPF_ENST00000535926.1_Silent_p.P277P	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	439					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.P439P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCGCAAGGCCGGGTGGTAGC	0.647																																						uc002vmc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)CCG>CCA		chondroitin polymerizing factor							32.0	37.0	35.0					2																	220405116		2195	4279	6474	SO:0001819	synonymous_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220405116C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1317G>A	2.37:g.220405116C>T						CHPF_uc010zlh.1_Silent_p.P277P	p.P439P	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1544	-		Renal(207;0.0183)	439			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	c.1317G>A	CCDS2443.1																																																																																				PASS	0.647	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		15	9	15	9	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39176662	39176663	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:39176662_39176663CC>AA	ENST00000431162.2	+	22	3096_3097	c.2962_2963CC>AA	c.(2962-2964)CCa>AAa	p.P988K	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.P940K|TTC21A_ENST00000301819.6_Missense_Mutation_p.P989K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	988								p.P989T(1)|p.P989Q(1)|p.P989K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAGAAAGCGCCAGGTAATTCT	0.515																																						uc003cjc.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2962-2964)CCA>ACA|c.(2962-2964)CCA>CAA		tetratricopeptide repeat domain 21A isoform 2																																				SO:0001583	missense	199223						binding	g.chr3:39176662C>A|g.chr3:39176663C>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	Exception_encountered	3.37:g.39176662_39176663delinsAA	ENSP00000398211:p.Pro988Lys					TTC21A_uc003cje.2_Missense_Mutation_p.P989T|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.P940T|TTC21A_uc003cjf.2_Missense_Mutation_p.P109T|TTC21A_uc003cje.2_Missense_Mutation_p.P989Q|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.P940Q|TTC21A_uc003cjf.2_Missense_Mutation_p.P109Q	p.P988T|p.P988Q	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	22	3139|3140	+			988			TPR 15.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.2962C>A|c.2963C>A	CCDS46800.1																																																																																				PASS	0.515	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		61|58	27	58	27	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39229489	39229489	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:39229489A>G	ENST00000340369.3	-	2	1676	c.1448T>C	c.(1447-1449)gTg>gCg	p.V483A	XIRP1_ENST00000396251.1_Missense_Mutation_p.V483A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	483					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.V483A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CATGGCATACACTGGGGACCC	0.577																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(1447-1449)GTG>GCG		xin actin-binding repeat containing 1							104.0	106.0	106.0					3																	39229489		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39229489A>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1448T>C	3.37:g.39229489A>G	ENSP00000343140:p.Val483Ala					XIRP1_uc003cji.2_Missense_Mutation_p.V483A|XIRP1_uc003cjj.2_Intron	p.V483A	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1669	-			483					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.1448T>C	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714418	0.48622	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05649	3.41;3.79	5.17	5.17	0.71159	.	0.250374	0.32068	N	0.006635	T	0.10937	0.0267	M	0.68317	2.08	0.80722	D	1	P;P	0.44006	0.824;0.666	B;B	0.41202	0.35;0.302	T	0.01334	-1.1382	10	0.72032	D	0.01	.	13.2778	0.60198	1.0:0.0:0.0:0.0	.	483;483	Q702N8;Q702N8-2	XIRP1_HUMAN;.	A	483	ENSP00000379550:V483A;ENSP00000343140:V483A	ENSP00000343140:V483A	V	-	2	0	XIRP1	39204493	0.965000	0.33210	0.984000	0.44739	0.932000	0.56968	7.084000	0.76866	2.089000	0.63090	0.533000	0.62120	GTG		PASS	0.577	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		17	193	17	193	---	---	---	---
TCAIM	285343	broad.mit.edu	37	3	44438258	44438258	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:44438258C>G	ENST00000342649.4	+	8	1244	c.817C>G	c.(817-819)Cgt>Ggt	p.R273G	TCAIM_ENST00000417237.1_Missense_Mutation_p.R273G	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	273						mitochondrion (GO:0005739)		p.R273G(1)									ATTTACAGACCGTTCTGGCAT	0.408																																						uc010him.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(817-819)CGT>GGT		hypothetical protein LOC285343 isoform 1							135.0	124.0	128.0					3																	44438258		2203	4300	6503	SO:0001583	missense	285343					mitochondrion		g.chr3:44438258C>G		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.817C>G	3.37:g.44438258C>G	ENSP00000341539:p.Arg273Gly					C3orf23_uc003cnd.3_Missense_Mutation_p.R273G|C3orf23_uc003cne.3_Missense_Mutation_p.R129G	p.R273G	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	8	1062	+			273					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.817C>G	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916919	0.52546	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.46819	0.86;0.86	5.6	3.8	0.43715	.	0.255107	0.43747	D	0.000534	T	0.45696	0.1355	L	0.51422	1.61	0.34877	D	0.744156	D	0.57257	0.979	P	0.48166	0.569	T	0.56147	-0.8027	10	0.33940	T	0.23	.	9.6854	0.40096	0.0:0.6626:0.267:0.0703	.	273	Q8N3R3	CC023_HUMAN	G	273	ENSP00000402581:R273G;ENSP00000341539:R273G	ENSP00000341539:R273G	R	+	1	0	C3orf23	44413262	1.000000	0.71417	0.930000	0.37139	0.684000	0.39900	2.565000	0.45939	0.718000	0.32166	0.655000	0.94253	CGT		PASS	0.408	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		7	104	7	104	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48607725	48607725	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:48607725C>T	ENST00000328333.8	-	97	7530	c.7423G>A	c.(7423-7425)Ggg>Agg	p.G2475R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2443R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2475	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2475R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGGCTCCCCACGCTCGCCT	0.607																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7423-7425)GGG>AGG		alpha 1 type VII collagen precursor							82.0	90.0	87.0					3																	48607725		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48607725C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7423G>A	3.37:g.48607725C>T	ENSP00000332371:p.Gly2475Arg						p.G2475R	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	97	7424	-			2475			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7423G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.272594	0.23221	.	.	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.99353	-5.77;-5.77;-5.53	4.89	4.89	0.63831	.	0.000000	0.46442	D	0.000296	D	0.99667	0.9876	H	0.98629	4.285	0.47374	D	0.999409	D	0.89917	1.0	D	0.97110	1.0	D	0.97323	0.9945	10	0.87932	D	0	.	14.7827	0.69779	0.0:1.0:0.0:0.0	.	2475	Q02388	CO7A1_HUMAN	R	2475;2443;140	ENSP00000332371:G2475R;ENSP00000412569:G2443R;ENSP00000391608:G140R	ENSP00000332371:G2475R	G	-	1	0	COL7A1	48582729	1.000000	0.71417	0.994000	0.49952	0.101000	0.19017	3.983000	0.56916	2.261000	0.74972	0.563000	0.77884	GGG		PASS	0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		65	39	65	39	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62357315	62357315	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:62357315G>C	ENST00000283268.3	-	3	1174	c.880C>G	c.(880-882)Cgc>Ggc	p.R294G	FEZF2_ENST00000486811.1_Missense_Mutation_p.R294G|FEZF2_ENST00000475839.1_Missense_Mutation_p.R294G|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	294					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.R294G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCATGTGGCGGGTGAGATTA	0.597																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(880-882)CGC>GGC		FEZ family zinc finger 2							65.0	66.0	66.0					3																	62357315		2203	4300	6503	SO:0001583	missense	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357315G>C	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.880C>G	3.37:g.62357315G>C	ENSP00000283268:p.Arg294Gly					FEZF2_uc003dli.2_Missense_Mutation_p.R294G	p.R294G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	1087	-		Lung SC(41;0.0262)	294			C2H2-type 1.		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.880C>G	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706445	0.68615	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.07216	3.21;3.21;3.21	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00282	-1.1850	10	0.66056	D	0.02	-30.8067	18.5871	0.91194	0.0:0.0:1.0:0.0	.	294	Q8TBJ5	FEZF2_HUMAN	G	294	ENSP00000418589:R294G;ENSP00000283268:R294G;ENSP00000418804:R294G	ENSP00000283268:R294G	R	-	1	0	FEZF2	62332355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.444000	0.73452	2.639000	0.89480	0.561000	0.74099	CGC		PASS	0.597	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		54	29	54	29	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113379185	113379185	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:113379185C>G	ENST00000478658.1	-	5	1361	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q448H			Q68DE3	K2018_HUMAN	KIAA2018	448						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Q448H(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGATGGTGTCTGGCTTAAGG	0.438																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1342-1344)CAG>CAC		hypothetical protein LOC205717							67.0	71.0	69.0					3																	113379185		2009	4179	6188	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379185C>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1344G>C	3.37:g.113379185C>G	ENSP00000420721:p.Gln448His					KIAA2018_uc003eal.2_Missense_Mutation_p.Q392H	p.Q448H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	1755	-			448					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1344G>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415675	0.42817	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.20200	2.09;2.09	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	L	0.32530	0.975	0.47737	D	0.999506	P	0.35050	0.482	B	0.30029	0.11	T	0.09618	-1.0666	10	0.41790	T	0.15	-6.2042	5.6757	0.17747	0.1409:0.6435:0.0:0.2156	.	448	Q68DE3	K2018_HUMAN	H	448	ENSP00000320794:Q448H;ENSP00000420721:Q448H	ENSP00000320794:Q448H	Q	-	3	2	KIAA2018	114861875	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.837000	0.27558	1.346000	0.45694	0.557000	0.71058	CAG		PASS	0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		65	195	65	195	---	---	---	---
GTF2E1	2960	broad.mit.edu	37	3	120469462	120469462	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:120469462G>A	ENST00000283875.5	+	2	156	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	21	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.V21V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CCAAGTATGTGATCCGGGGAT	0.463																																						uc003edz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(61-63)GTG>GTA		general transcription factor IIE, polypeptide 1,							136.0	125.0	128.0					3																	120469462		2203	4300	6503	SO:0001819	synonymous_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469462G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.63G>A	3.37:g.120469462G>A						GTF2E1_uc003edy.2_Silent_p.V21V	p.V21V	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	177	+			21			HTH TFE/IIEalpha-type.		Q16103	Silent	SNP	ENST00000283875.5	37	c.63G>A	CCDS3002.1																																																																																				PASS	0.463	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		208	144	208	144	---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125271293	125271293	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:125271293C>A	ENST00000296220.5	-	9	1675	c.1386G>T	c.(1384-1386)aaG>aaT	p.K462N		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	462					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.K462N(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTTTTGGCATCTTCCAGGAAC	0.453																																						uc003eic.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(1384-1386)AAG>AAT		oxysterol binding protein-like 11							109.0	98.0	102.0					3																	125271293		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271293C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1386G>T	3.37:g.125271293C>A	ENSP00000296220:p.Lys462Asn						p.K462N	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			9	2123	-			462					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1386G>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	9.142	1.014129	0.19277	.	.	ENSG00000144909	ENST00000296220	T	0.29397	1.57	4.74	1.84	0.25277	.	0.261017	0.43416	D	0.000562	T	0.09730	0.0239	N	0.01705	-0.755	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.33548	-0.9864	10	0.14656	T	0.56	-12.6394	7.8817	0.29627	0.0:0.7195:0.1322:0.1483	.	462	Q9BXB4	OSB11_HUMAN	N	462	ENSP00000296220:K462N	ENSP00000296220:K462N	K	-	3	2	OSBPL11	126753983	0.264000	0.24093	0.934000	0.37439	0.947000	0.59692	0.355000	0.20163	0.615000	0.30124	0.591000	0.81541	AAG		PASS	0.453	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		69	187	69	187	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379841	127379841	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:127379841G>T	ENST00000342480.6	+	3	1009	c.970G>T	c.(970-972)Gat>Tat	p.D324Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	324					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.D324Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCCAGATGAAGATCCCCTTGG	0.587																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(970-972)GAT>TAT		podocalyxin-like 2 precursor							77.0	63.0	68.0					3																	127379841		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379841G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.970G>T	3.37:g.127379841G>T	ENSP00000345359:p.Asp324Tyr						p.D324Y	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	994	+			324			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.970G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	7.999	0.754917	0.15846	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.23552	1.9	4.67	2.87	0.33458	.	0.725031	0.13144	N	0.410456	T	0.22244	0.0536	L	0.27053	0.805	0.09310	N	1	P	0.38922	0.651	B	0.43360	0.417	T	0.11966	-1.0566	10	0.59425	D	0.04	-3.8748	8.7191	0.34430	0.1825:0.0:0.8175:0.0	.	324	Q9NZ53	PDXL2_HUMAN	Y	324	ENSP00000345359:D324Y	ENSP00000304498:D324Y	D	+	1	0	PODXL2	128862531	0.573000	0.26676	0.003000	0.11579	0.094000	0.18550	0.918000	0.28678	0.519000	0.28406	-0.320000	0.08662	GAT		PASS	0.587	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		16	224	16	224	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130685990	130685990	+	Splice_Site	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:130685990T>G	ENST00000510168.1	+	15	1674	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	ATP2C1_ENST00000508532.1_Splice_Site_p.V375G|ATP2C1_ENST00000507488.2_Splice_Site_p.V359G|ATP2C1_ENST00000422190.2_Splice_Site_p.V375G|ATP2C1_ENST00000393221.4_Splice_Site_p.V409G|ATP2C1_ENST00000504381.1_Splice_Site_p.V320G|ATP2C1_ENST00000428331.2_Splice_Site_p.V375G|ATP2C1_ENST00000505330.1_Splice_Site_p.V359G|ATP2C1_ENST00000513801.1_Splice_Site_p.V359G|ATP2C1_ENST00000328560.8_Splice_Site_p.V375G|ATP2C1_ENST00000533801.2_Splice_Site_p.V370G|ATP2C1_ENST00000359644.3_Splice_Site_p.V375G|ATP2C1_ENST00000504948.1_Splice_Site_p.V359G			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	375					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V375G(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATCTTTAGGTTACTGGAGTT	0.358									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1123-1125)GTT>GGT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						219.0	218.0	218.0					3																	130685990		2203	4300	6503	SO:0001630	splice_region_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130685990T>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1123-1T>G	3.37:g.130685990T>G						ATP2C1_uc011blg.1_Missense_Mutation_p.V409G|ATP2C1_uc011blh.1_Missense_Mutation_p.V370G|ATP2C1_uc011bli.1_Missense_Mutation_p.V409G|ATP2C1_uc003enk.2_Missense_Mutation_p.V359G|ATP2C1_uc003enm.2_Missense_Mutation_p.V375G|ATP2C1_uc003enn.2_Missense_Mutation_p.V359G|ATP2C1_uc003eno.2_Missense_Mutation_p.V375G|ATP2C1_uc003enp.2_Missense_Mutation_p.V375G|ATP2C1_uc003enq.2_Missense_Mutation_p.V375G|ATP2C1_uc003enr.2_Missense_Mutation_p.V375G|ATP2C1_uc003ens.2_Missense_Mutation_p.V375G|ATP2C1_uc003ent.2_Missense_Mutation_p.V375G|ATP2C1_uc003enu.2_Missense_Mutation_p.V53G	p.V375G	NM_014382	NP_055197	P98194	AT2C1_HUMAN			15	1346	+			375			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1124T>G	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.408811|4.408811	0.83340|0.83340	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.94046	.|-3.22;-3.28;-3.23;-3.25;-3.31;-3.23;-3.23;-3.22;-3.23;-3.34;-3.23;-3.24;-3.23;-1.92	5.4|5.4	5.4|5.4	0.78164|0.78164	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96796|0.96796	0.8954|0.8954	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|D;D;B;D;B;D;D	.|0.69078	.|0.996;0.996;0.128;0.996;0.262;0.996;0.997	.|D;D;B;D;B;D;D	.|0.72075	.|0.958;0.961;0.25;0.958;0.25;0.958;0.976	D|D	0.97499|0.97499	1.0059|1.0059	5|10	.|0.87932	.|D	.|0	.|.	15.4335|15.4335	0.75125|0.75125	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|409;370;409;375;409;375;375	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	V|G	329|359;320;359;409;370;375;375;359;359;375;375;375;375;374;114	.|ENSP00000423774:V359G;ENSP00000425320:V320G;ENSP00000421326:V359G;ENSP00000376914:V409G;ENSP00000432956:V370G;ENSP00000427461:V375G;ENSP00000424783:V375G;ENSP00000423330:V359G;ENSP00000422872:V359G;ENSP00000329664:V375G;ENSP00000395809:V375G;ENSP00000352665:V375G;ENSP00000402677:V375G;ENSP00000422890:V114G	.|ENSP00000329664:V375G	L|V	+|+	1|2	2|0	ATP2C1|ATP2C1	132168680|132168680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	7.698000|7.698000	0.84413|0.84413	2.051000|2.051000	0.60960|0.60960	0.477000|0.477000	0.44152|0.44152	TTA|GTT		PASS	0.358	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	Missense_Mutation	185	488	185	488	---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155571667	155571667	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:155571667C>T	ENST00000392845.3	-	1	500	c.120G>A	c.(118-120)ttG>ttA	p.L40L	SLC33A1_ENST00000359479.3_Silent_p.L40L|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	40					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.L40L(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCGCTGAGTCCAAATGACTGT	0.602																																						uc003fan.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(118-120)TTG>TTA		acetyl-coenzyme A transporter							34.0	38.0	37.0					3																	155571667		2203	4300	6503	SO:0001819	synonymous_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571667C>T	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.120G>A	3.37:g.155571667C>T						SLC33A1_uc003fao.1_Silent_p.L40L	p.L40L	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	501	-			40			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	c.120G>A	CCDS3173.1																																																																																				PASS	0.602	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		22	154	22	154	---	---	---	---
GMPS	8833	broad.mit.edu	37	3	155654155	155654155	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:155654155G>T	ENST00000496455.2	+	15	2171	c.1836G>T	c.(1834-1836)ccG>ccT	p.P612P	GMPS_ENST00000295920.7_Silent_p.P513P	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	612					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.P612P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCCAGATGCCGGTGATTTTGA	0.413			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1834-1836)CCG>CCT		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						106.0	98.0	100.0					3																	155654155		1877	4110	5987	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155654155G>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1836G>T	3.37:g.155654155G>T						GMPS_uc011bom.1_Silent_p.P513P	p.P612P	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2171	+			612					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.1836G>T	CCDS46941.1																																																																																				PASS	0.413	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			87	225	87	225	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	156979090	156979090	+	Missense_Mutation	SNP	G	G	A	rs377432189		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:156979090G>A	ENST00000362010.2	-	14	2642	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R779C|VEPH1_ENST00000543418.1_Missense_Mutation_p.R734C|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.R734C	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	779	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)		p.R779C(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CGGTCCCTGCGTTTCTTGGCC	0.488																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(2335-2337)CGC>TGC		ventricular zone expressed PH domain homolog 1							75.0	80.0	78.0					3																	156979090		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:156979090G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2335C>T	3.37:g.156979090G>A	ENSP00000354919:p.Arg779Cys					VEPH1_uc003fbk.1_Missense_Mutation_p.R779C|VEPH1_uc010hvu.1_Missense_Mutation_p.R734C	p.R779C	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2652	-			779			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.2335C>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582472	0.86748	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.75938	2.67;-0.98;2.67;-0.98	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	D	0.88546	0.3113	10	0.87932	D	0	-1.7539	18.6938	0.91593	0.0:0.0:1.0:0.0	.	734;779	Q14D04-2;Q14D04	.;MELT_HUMAN	C	734;779;734;779	ENSP00000376578:R734C;ENSP00000354919:R779C;ENSP00000446258:R734C;ENSP00000376577:R779C	ENSP00000354919:R779C	R	-	1	0	VEPH1	158461784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.605000	0.82844	2.408000	0.81797	0.655000	0.94253	CGC		PASS	0.488	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		8	271	8	271	---	---	---	---
MLF1	4291	broad.mit.edu	37	3	158317959	158317959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:158317959G>T	ENST00000355893.5	+	5	703	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	MLF1_ENST00000359117.5_Nonsense_Mutation_p.E164*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.E179*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.E164*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.E164*|MLF1_ENST00000469452.1_Nonsense_Mutation_p.E121*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.E220*|MLF1_ENST00000471745.1_Nonsense_Mutation_p.E179*|MLF1_ENST00000497004.1_3'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	189					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.E189*(1)|p.E220*(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAATATGAATGAAAGTAAGTT	0.299			T	NPM1	AML																																	uc003fcb.2				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		2	Substitution - Nonsense(2)		lung(2)		0						c.(565-567)GAA>TAA		myeloid leukemia factor 1 isoform 1							59.0	65.0	63.0					3																	158317959		2203	4300	6503	SO:0001587	stop_gained	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158317959G>T	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.565G>T	3.37:g.158317959G>T	ENSP00000348157:p.Glu189*					MLF1_uc003fbz.2_Nonsense_Mutation_p.E164*|MLF1_uc003fca.2_Nonsense_Mutation_p.E164*|MLF1_uc003fbx.2_Nonsense_Mutation_p.E179*|MLF1_uc003fcc.2_Nonsense_Mutation_p.E220*|MLF1_uc003fby.2_Nonsense_Mutation_p.E115*|MLF1_uc010hvx.2_Nonsense_Mutation_p.E121*	p.E189*	NM_022443	NP_071888	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		5	702	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	189					E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Nonsense_Mutation	SNP	ENST00000355893.5	37	c.565G>T	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732616	0.96856	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	.	.	.	6.06	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.8153	16.6315	0.85035	0.0:0.0:0.869:0.131	.	.	.	.	X	115;189;164;164;144;179;121;164;179;220;204	.	ENSP00000348157:E189X	E	+	1	0	MLF1	159800653	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	9.307000	0.96226	1.523000	0.49018	0.650000	0.86243	GAA		PASS	0.299	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		86	66	86	66	---	---	---	---
TNFSF10	8743	broad.mit.edu	37	3	172227050	172227050	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:172227050G>A	ENST00000241261.2	-	4	497	c.375C>T	c.(373-375)caC>caT	p.H125H	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.H125H(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCCCAGTTATGTGAGCTGCTA	0.398																																						uc003fid.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(1)	5						c.(373-375)CAC>CAT		tumor necrosis factor (ligand) superfamily,							112.0	106.0	108.0					3																	172227050		2203	4300	6503	SO:0001819	synonymous_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227050G>A	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.375C>T	3.37:g.172227050G>A						TNFSF10_uc003fie.2_Intron	p.H125H	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	470	-	Ovarian(172;0.00197)|Breast(254;0.158)		125			Extracellular (Potential).		A1Y9B3	Silent	SNP	ENST00000241261.2	37	c.375C>T	CCDS3219.1																																																																																				PASS	0.398	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			15	233	15	233	---	---	---	---
PARL	55486	broad.mit.edu	37	3	183585724	183585724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr3:183585724C>A	ENST00000317096.4	-	2	310	c.250G>T	c.(250-252)Gaa>Taa	p.E84*	PARL_ENST00000435888.1_Nonsense_Mutation_p.E84*|PARL_ENST00000311101.5_Nonsense_Mutation_p.E84*	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	84					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.E84*(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTGTTTCTTCCACAGGAGGA	0.433																																						uc003fmd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(250-252)GAA>TAA		presenilin associated, rhomboid-like isoform 1							123.0	116.0	118.0					3																	183585724		2203	4300	6503	SO:0001587	stop_gained	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183585724C>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.250G>T	3.37:g.183585724C>A	ENSP00000325421:p.Glu84*					PARL_uc003fme.2_Nonsense_Mutation_p.E84*	p.E84*	NM_018622	NP_061092	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	309	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		84			Mitochondrial matrix (Potential).		Q96CQ4|Q9BTJ6|Q9P1E3	Nonsense_Mutation	SNP	ENST00000317096.4	37	c.250G>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.813999|4.813999	0.90790|0.90790	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888|ENST00000449306	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.056601|.	0.64402|.	D|.	0.000001|.	.|T	.|0.62998	.|0.2474	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68830	.|-0.5305	.|3	0.20519|.	T|.	0.43|.	-14.0773|-14.0773	12.7524|12.7524	0.57316|0.57316	0.0:0.8351:0.1649:0.0|0.0:0.8351:0.1649:0.0	.|.	.|.	.|.	.|.	X|V	84|44	.|.	ENSP00000310676:E84X|.	E|G	-|-	1|2	0|0	PARL|PARL	185068418|185068418	0.739000|0.739000	0.28196|0.28196	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	1.116000|1.116000	0.31221|0.31221	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.433	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		98	247	98	247	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25665869	25665869	+	Missense_Mutation	SNP	G	G	T	rs369523420	byFrequency	TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:25665869G>T	ENST00000382051.3	+	4	346	c.296G>T	c.(295-297)gGg>gTg	p.G99V	SLC34A2_ENST00000503434.1_Missense_Mutation_p.G98V|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G98V	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	99					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.G99V(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)				CAAGGGATTGGGAGATTGATT	0.473			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.(295-297)GGG>GTG		solute carrier family 34 (sodium phosphate),							164.0	157.0	160.0					4																	25665869		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.chr4:25665869G>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.296G>T	4.37:g.25665869G>T	ENSP00000371483:p.Gly99Val					SLC34A2_uc003grs.2_Missense_Mutation_p.G98V|SLC34A2_uc010iev.2_Missense_Mutation_p.G98V	p.G99V	NM_006424	NP_006415	O95436	NPT2B_HUMAN			4	377	+		Breast(46;0.0503)	99			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.296G>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	3.354	-0.131932	0.06753	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	T;T;T;T;T	0.55052	0.54;1.81;1.82;1.81;0.58	5.89	4.0	0.46444	.	0.381500	0.28219	N	0.016144	T	0.33962	0.0881	N	0.20401	0.57	0.58432	D	0.999997	B;B	0.25441	0.126;0.077	B;B	0.23419	0.046;0.021	T	0.09796	-1.0658	10	0.08599	T	0.76	-24.5559	14.1187	0.65172	0.0:0.0:0.6673:0.3327	.	98;99	O95436-2;O95436	.;NPT2B_HUMAN	V	98;98;99;98;99	ENSP00000423038:G98V;ENSP00000425501:G98V;ENSP00000371483:G99V;ENSP00000423021:G98V;ENSP00000424266:G99V	ENSP00000371483:G99V	G	+	2	0	SLC34A2	25274967	0.007000	0.16637	0.973000	0.42090	0.509000	0.34042	0.313000	0.19415	2.793000	0.96121	0.655000	0.94253	GGG		PASS	0.473	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		19	175	19	175	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483565	26483565	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:26483565G>C	ENST00000295589.3	-	5	1176	c.982C>G	c.(982-984)Ccc>Gcc	p.P328A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	328					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.P328A(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTGAAGATGGGCATCCAGCAC	0.612																																						uc003gse.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(1)	4						c.(982-984)CCC>GCC		cholecystokinin A receptor	Ceruletide(DB00403)						120.0	103.0	109.0					4																	26483565		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483565G>C	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.982C>G	4.37:g.26483565G>C	ENSP00000295589:p.Pro328Ala						p.P328A	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	1135	-		Breast(46;0.0503)	328			Helical; Name=6; (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.982C>G	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830539	0.91036	.	.	ENSG00000163394	ENST00000295589	T	0.80214	-1.35	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96567	0.9420	10	0.87932	D	0	.	18.622	0.91324	0.0:0.0:1.0:0.0	.	328	P32238	CCKAR_HUMAN	A	328	ENSP00000295589:P328A	ENSP00000295589:P328A	P	-	1	0	CCKAR	26092663	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.404000	0.81709	0.462000	0.41574	CCC		PASS	0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			11	126	11	126	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450422	44450422	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:44450422G>A	ENST00000360029.3	-	1	402	c.119C>T	c.(118-120)tCg>tTg	p.S40L	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	40					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.S40L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGGAAGGGCGAGGGTGCGCA	0.677										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(118-120)TCG>TTG		potassium channel tetramerisation domain							18.0	15.0	16.0					4																	44450422		2093	4122	6215	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450422G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.119C>T	4.37:g.44450422G>A	ENSP00000353129:p.Ser40Leu	HNSCC(17;0.042)					p.S40L	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	403	-			40					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.119C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358089	0.24598	.	.	ENSG00000183783	ENST00000360029	T	0.39592	1.07	4.01	4.01	0.46588	.	0.317119	0.26334	N	0.024975	T	0.24160	0.0585	N	0.19112	0.55	0.31390	N	0.677936	B	0.28801	0.223	B	0.11329	0.006	T	0.19095	-1.0316	10	0.41790	T	0.15	.	8.9734	0.35921	0.0:0.0:0.7787:0.2213	.	40	Q6ZWB6	KCTD8_HUMAN	L	40	ENSP00000353129:S40L	ENSP00000353129:S40L	S	-	2	0	KCTD8	44145179	0.993000	0.37304	0.957000	0.39632	0.448000	0.32197	0.923000	0.28757	2.050000	0.60909	0.467000	0.42956	TCG		PASS	0.677	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			14	8	14	8	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52942956	52942956	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:52942956G>A	ENST00000295213.4	+	7	1144	c.770G>A	c.(769-771)aGc>aAc	p.S257N	SPATA18_ENST00000419395.2_Missense_Mutation_p.S225N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	257	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.S257N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCCTCCAGGAGCCGGTCTCCC	0.587																																						uc003gzl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(769-771)AGC>AAC		spermatogenesis associated 18 homolog							32.0	36.0	34.0					4																	52942956		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52942956G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.770G>A	4.37:g.52942956G>A	ENSP00000295213:p.Ser257Asn					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.S225N|SPATA18_uc003gzk.1_Missense_Mutation_p.S257N	p.S257N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1048	+			257			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.770G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930562	0.52866	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.22743	1.94;4.24	3.59	2.75	0.32379	.	0.365474	0.36002	N	0.002850	T	0.28034	0.0691	L	0.48362	1.52	0.47698	D	0.999493	D;D;P	0.61697	0.99;0.99;0.886	P;P;P	0.55455	0.776;0.776;0.544	T	0.01800	-1.1271	10	0.29301	T	0.29	-0.3439	10.6818	0.45819	0.0:0.0:0.8077:0.1923	.	225;257;257	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	257;225	ENSP00000295213:S257N;ENSP00000415309:S225N	ENSP00000295213:S257N	S	+	2	0	SPATA18	52637713	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	4.454000	0.60068	1.082000	0.41137	0.313000	0.20887	AGC		PASS	0.587	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		16	61	16	61	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56890686	56890686	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:56890686A>T	ENST00000257287.4	+	25	3464	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1114					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.M1114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AATCCAAGAGATGCGTCGACA	0.388																																						uc003hbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3340-3342)ATG>TTG		centrosome protein 4							221.0	207.0	212.0					4																	56890686		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890686A>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3340A>T	4.37:g.56890686A>T	ENSP00000257287:p.Met1114Leu					CEP135_uc003hbj.2_Missense_Mutation_p.M820L	p.M1114L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			25	3574	+	Glioma(25;0.08)|all_neural(26;0.101)		1114			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3340A>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	3.865	-0.029068	0.07589	.	.	ENSG00000174799	ENST00000257287	T	0.11930	2.73	5.65	4.44	0.53790	.	0.079666	0.85682	N	0.000000	T	0.07279	0.0184	N	0.21617	0.685	0.37230	D	0.905637	B	0.02656	0.0	B	0.09377	0.004	T	0.18618	-1.0331	10	0.02654	T	1	.	8.248	0.31700	0.7292:0.1385:0.0:0.1323	.	1114	Q66GS9	CP135_HUMAN	L	1114	ENSP00000257287:M1114L	ENSP00000257287:M1114L	M	+	1	0	CEP135	56585443	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.990000	0.49401	0.936000	0.37367	0.528000	0.53228	ATG		PASS	0.388	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		80	360	80	360	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70146679	70146679	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:70146679T>G	ENST00000335568.5	+	1	463	c.461T>G	c.(460-462)tTt>tGt	p.F154C	UGT2B28_ENST00000511240.1_Missense_Mutation_p.F154C	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	154					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F154C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGCTTTTTTTCCTTGTGGT	0.388																																						uc003hej.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)TTT>TGT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						103.0	113.0	110.0					4																	70146679		2037	4235	6272	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146679T>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.461T>G	4.37:g.70146679T>G	ENSP00000334276:p.Phe154Cys					UGT2B28_uc010ihr.2_Missense_Mutation_p.F154C	p.F154C	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			1	463	+			154					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.461T>G	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.323	-0.960783	0.02249	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.62232	0.04;0.04	2.18	-4.36	0.03645	.	1.510010	0.04541	U	0.388225	T	0.66336	0.2779	M	0.62016	1.91	0.09310	N	1	P;B	0.50617	0.937;0.003	P;B	0.54346	0.749;0.021	T	0.62426	-0.6857	10	0.38643	T	0.18	.	5.8798	0.18848	0.0:0.3028:0.2224:0.4748	.	154;154	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	C	154	ENSP00000334276:F154C;ENSP00000427399:F154C	ENSP00000334276:F154C	F	+	2	0	UGT2B28	70181268	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.103000	0.01341	-2.343000	0.00623	-1.386000	0.01163	TTT		PASS	0.388	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	190	5	190	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113524783	113524783	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:113524783G>A	ENST00000505019.1	-	10	2998	c.2873C>T	c.(2872-2874)tCa>tTa	p.S958L	C4orf21_ENST00000309071.5_Missense_Mutation_p.S958L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		958						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S958L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCCTAGCTGTGAGCTGTGTCC	0.408																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2872-2874)TCA>TTA		prematurely terminated mRNA decay factor-like							198.0	157.0	171.0					4																	113524783		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113524783G>A																												ENST00000505019.1:c.2873C>T	4.37:g.113524783G>A	ENSP00000424737:p.Ser958Leu					C4orf21_uc003iaw.2_Missense_Mutation_p.S958L	p.S958L	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3084	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2873C>T		.	.	.	.	.	.	.	.	.	.	G	5.194	0.221279	0.09863	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.84944	-1.92;1.8	5.38	3.62	0.41486	.	0.718284	0.12043	N	0.504898	T	0.75561	0.3866	L	0.42245	1.32	0.29487	N	0.855932	P;B	0.41673	0.759;0.053	B;B	0.32342	0.144;0.046	T	0.65557	-0.6139	10	0.32370	T	0.25	-1.0454	8.3994	0.32576	0.186:0.0:0.814:0.0	.	958;958	Q86YA3;G5EA02	CD021_HUMAN;.	L	958	ENSP00000424737:S958L;ENSP00000309095:S958L	ENSP00000309095:S958L	S	-	2	0	C4orf21	113744232	0.971000	0.33674	0.026000	0.17262	0.079000	0.17450	1.243000	0.32767	0.613000	0.30089	0.555000	0.69702	TCA		PASS	0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			48	76	48	76	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113524786	113524786	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:113524786C>T	ENST00000505019.1	-	10	2995	c.2870G>A	c.(2869-2871)aGc>aAc	p.S957N	C4orf21_ENST00000309071.5_Missense_Mutation_p.S957N	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		957						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S957N(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGCTGTGAGCTGTGTCCTCT	0.408																																						uc003iau.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2869-2871)AGC>AAC		prematurely terminated mRNA decay factor-like							200.0	159.0	173.0					4																	113524786		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113524786C>T																												ENST00000505019.1:c.2870G>A	4.37:g.113524786C>T	ENSP00000424737:p.Ser957Asn					C4orf21_uc003iaw.2_Missense_Mutation_p.S957N	p.S957N	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3081	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2870G>A		.	.	.	.	.	.	.	.	.	.	C	9.112	1.006695	0.19199	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.84442	-1.85;1.49	5.38	1.66	0.24008	.	0.807473	0.11286	N	0.579817	T	0.80529	0.4640	M	0.62723	1.935	0.23640	N	0.997228	B;B	0.21821	0.061;0.037	B;B	0.18561	0.022;0.012	T	0.69124	-0.5228	10	0.62326	D	0.03	0.5413	4.8142	0.13358	0.1488:0.6091:0.0:0.2421	.	957;957	Q86YA3;G5EA02	CD021_HUMAN;.	N	957	ENSP00000424737:S957N;ENSP00000309095:S957N	ENSP00000309095:S957N	S	-	2	0	C4orf21	113744235	0.120000	0.22244	0.006000	0.13384	0.038000	0.13279	0.167000	0.16602	-0.008000	0.14320	-0.266000	0.10368	AGC		PASS	0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			48	77	48	77	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071539	134071539	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:134071539G>A	ENST00000264360.5	+	1	1070	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E82K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AATAGACCGCGAACAAATCTG	0.562																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(244-246)GAA>AAA		protocadherin 10 isoform 1 precursor							68.0	75.0	73.0					4																	134071539		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071539G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.244G>A	4.37:g.134071539G>A	ENSP00000264360:p.Glu82Lys					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E82K	p.E82K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1070	+			82			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.244G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043151	0.75732	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.49720	0.77	4.66	4.66	0.58398	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.45606	D	0.000347	T	0.80221	0.4583	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.87947	0.2721	10	0.87932	D	0	.	17.3261	0.87248	0.0:0.0:1.0:0.0	.	82;82	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	82	ENSP00000264360:E82K	ENSP00000264360:E82K	E	+	1	0	PCDH10	134290989	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.657000	0.98554	2.403000	0.81681	0.555000	0.69702	GAA		PASS	0.562	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		29	91	29	91	---	---	---	---
CCRN4L	25819	broad.mit.edu	37	4	139966421	139966421	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:139966421C>T	ENST00000280614.2	+	3	1282	c.1089C>T	c.(1087-1089)acC>acT	p.T363T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	363					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T363T(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CATACACTACCTGGAAGATCC	0.517																																					Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1087-1089)ACC>ACT		CCR4 carbon catabolite repression 4-like							99.0	93.0	95.0					4																	139966421		2203	4300	6503	SO:0001819	synonymous_variant	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966421C>T	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1089C>T	4.37:g.139966421C>T							p.T363T	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN			3	1282	+	all_hematologic(180;0.162)		363					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	c.1089C>T	CCDS3743.1																																																																																				PASS	0.517	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		37	80	37	80	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141543385	141543385	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:141543385C>A	ENST00000442267.2	-	21	3839	c.3765G>T	c.(3763-3765)tcG>tcT	p.S1255S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1255							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S1255S(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTCACTGGCCGAGGTGAGGG	0.572																																						uc010ioj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3763-3765)TCG>TCT		TBC1 domain family, member 9 (with GRAM domain)							68.0	68.0	68.0					4																	141543385		1901	4123	6024	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543385C>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3765G>T	4.37:g.141543385C>A							p.S1255S	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	4037	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1255					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3765G>T	CCDS47136.1																																																																																				PASS	0.572	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		4	109	4	109	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247367	153247367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:153247367G>A	ENST00000281708.4	-	10	2664	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R361*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R303*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R399*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		18	Substitution - Nonsense(9)|Substitution - coding silent(5)|Substitution - Missense(3)|Unknown(1)	p.R479Q(31)|p.R479L(6)|p.R479G(3)	lung(10)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1435-1437)CGA>TGA		F-box and WD repeat domain containing 7 isoform							83.0	78.0	79.0					4																	153247367		2203	4299	6502	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247367G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1435C>T	4.37:g.153247367G>A	ENSP00000281708:p.Arg479*					FBXW7_uc011cii.1_Nonsense_Mutation_p.R479*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R479*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R303*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R399*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R361*	p.R479*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1584	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479			WD 3.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1435C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	38	6.707523	0.97780	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7081	15.6805	0.77364	0.0:0.0:0.8491:0.1508	.	.	.	.	X	479;361;399;303	.	ENSP00000263981:R399X	R	-	1	2	FBXW7	153466817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.541000	0.73865	1.492000	0.48499	0.650000	0.86243	CGA		PASS	0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			32	58	32	58	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164272519	164272519	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:164272519G>T	ENST00000515560.1	+	4	2616	c.1094G>T	c.(1093-1095)aGt>aTt	p.S365I	NPY5R_ENST00000338566.3_Missense_Mutation_p.S365I|NPY5R_ENST00000506953.1_Missense_Mutation_p.S365I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	365					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|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.S365I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGATCTCGAAGTGTTTTCTAC	0.353																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(1093-1095)AGT>ATT		neuropeptide Y receptor Y5							122.0	116.0	118.0					4																	164272519		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272519G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1094G>T	4.37:g.164272519G>T	ENSP00000423917:p.Ser365Ile						p.S365I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1276	+	all_hematologic(180;0.166)	Prostate(90;0.109)	365			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1094G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443395	0.43429	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37915	1.17;1.17;1.17	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.325852	0.25642	N	0.029268	T	0.37625	0.1010	L	0.46157	1.445	0.26632	N	0.97245	P	0.46142	0.873	P	0.45998	0.5	T	0.32534	-0.9903	10	0.62326	D	0.03	.	12.5668	0.56314	0.0827:0.0:0.9173:0.0	.	365	Q15761	NPY5R_HUMAN	I	365	ENSP00000339377:S365I;ENSP00000423917:S365I;ENSP00000423474:S365I	ENSP00000339377:S365I	S	+	2	0	NPY5R	164491969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.017000	0.49615	2.428000	0.82296	0.460000	0.39030	AGT		PASS	0.353	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		45	100	45	100	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177032751	177032751	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:177032751T>A	ENST00000280190.4	+	3	248	c.92T>A	c.(91-93)gTg>gAg	p.V31E	WDR17_ENST00000507824.2_Missense_Mutation_p.V31E|WDR17_ENST00000508596.1_Missense_Mutation_p.V7E|WDR17_ENST00000393643.2_Missense_Mutation_p.V7E			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	31								p.V31E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTAAGGCAAGTGGGATTGCTG	0.408																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(91-93)GTG>GAG		WD repeat domain 17 isoform 1							139.0	128.0	132.0					4																	177032751		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032751T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.92T>A	4.37:g.177032751T>A	ENSP00000280190:p.Val31Glu					WDR17_uc003iuk.2_Missense_Mutation_p.V7E|WDR17_uc003ium.3_Missense_Mutation_p.V7E|WDR17_uc003iul.1_Missense_Mutation_p.V7E	p.V31E	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	3	248	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	31					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.92T>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673879	0.88445	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.60171	0.25;0.28;0.21	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.63943	0.2554	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.996;0.959;0.996	T	0.62058	-0.6934	10	0.30078	T	0.28	-20.6106	15.3798	0.74645	0.0:0.0:0.0:1.0	.	7;31;31	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	E	7;7;31;7;31	ENSP00000422763:V7E;ENSP00000377258:V7E;ENSP00000280190:V31E	ENSP00000280190:V31E	V	+	2	0	WDR17	177269745	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.371000	0.79600	2.087000	0.62958	0.383000	0.25322	GTG		PASS	0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			33	66	33	66	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177098633	177098633	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:177098633A>T	ENST00000280190.4	+	30	3833	c.3677A>T	c.(3676-3678)gAc>gTc	p.D1226V	WDR17_ENST00000507824.2_Missense_Mutation_p.D1201V|WDR17_ENST00000508596.1_Missense_Mutation_p.D1187V|WDR17_ENST00000393643.2_Missense_Mutation_p.D1202V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1226								p.D1226V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCATTAGAAGACTCTCCGTAT	0.299																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3676-3678)GAC>GTC		WD repeat domain 17 isoform 1							69.0	78.0	75.0					4																	177098633		2202	4297	6499	SO:0001583	missense	116966							g.chr4:177098633A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3677A>T	4.37:g.177098633A>T	ENSP00000280190:p.Asp1226Val					WDR17_uc003iuk.2_Missense_Mutation_p.D1202V|WDR17_uc003ium.3_Missense_Mutation_p.D1187V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.D437V	p.D1226V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	30	3833	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1226					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3677A>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.50|15.50	2.852326|2.852326	0.51270|0.51270	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.51071|.	0.72;0.72;0.72|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.862899|.	0.10196|.	N|.	0.704022|.	T|T	0.68146|0.68146	0.2969|0.2969	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28552|.	0.215;0.0;0.001|.	B;B;B|.	0.20767|.	0.031;0.001;0.002|.	T|T	0.65780|0.65780	-0.6085|-0.6085	10|5	0.56958|.	D|.	0.05|.	-2.8875|-2.8875	15.7293|15.7293	0.77790|0.77790	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1202;1187;1226|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	V|S	1187;1202;1226;1202|460	ENSP00000422763:D1187V;ENSP00000377258:D1202V;ENSP00000280190:D1226V|.	ENSP00000280190:D1226V|.	D|R	+|+	2|3	0|2	WDR17|WDR17	177335627|177335627	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.837000|0.837000	0.47467|0.47467	7.273000|7.273000	0.78527|0.78527	2.364000|2.364000	0.80123|0.80123	0.524000|0.524000	0.50904|0.50904	GAC|AGA		PASS	0.299	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			29	138	29	138	---	---	---	---
SPATA4	132851	broad.mit.edu	37	4	177113789	177113789	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr4:177113789T>C	ENST00000280191.2	-	4	785	c.677A>G	c.(676-678)aAa>aGa	p.K226R	SPATA4_ENST00000515234.1_Missense_Mutation_p.K53R	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	226						cytoplasm (GO:0005737)		p.K226R(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TGGATTCAATTTTCTGCCTAA	0.398																																						uc003iuo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)AAA>AGA		spermatogenesis associated 4							66.0	70.0	69.0					4																	177113789		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113789T>C	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.677A>G	4.37:g.177113789T>C	ENSP00000280191:p.Lys226Arg						p.K226R	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	4	786	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	226					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.677A>G	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557538	0.45590	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.47177	0.85	5.38	5.38	0.77491	.	0.531478	0.19944	N	0.102586	T	0.48223	0.1488	L	0.54323	1.7	0.26401	N	0.976423	P	0.49559	0.925	P	0.46885	0.53	T	0.43278	-0.9401	10	0.22706	T	0.39	-18.4149	13.1965	0.59740	0.0:0.0:0.0:1.0	.	226	Q8NEY3	SPAT4_HUMAN	R	226;53	ENSP00000280191:K226R	ENSP00000280191:K226R	K	-	2	0	SPATA4	177350783	0.935000	0.31712	0.713000	0.30519	0.549000	0.35272	1.221000	0.32503	2.156000	0.67533	0.460000	0.39030	AAA		PASS	0.398	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		28	57	28	57	---	---	---	---
NKD2	85409	broad.mit.edu	37	5	1038076	1038076	+	Missense_Mutation	SNP	G	G	C	rs375289481		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:1038076G>C	ENST00000296849.5	+	10	1173	c.944G>C	c.(943-945)cGg>cCg	p.R315P	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	315	Interaction with TGFA.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.R315P(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCTGCTGCCCGGGCCCTGGAC	0.701																																						uc003jbt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(943-945)CGG>CCG		naked cuticle homolog 2		G	PRO/ARG	0,4342		0,0,2171	12.0	12.0	12.0		944	2.8	0.1	5		12	1,8467		0,1,4233	no	missense	NKD2	NM_033120.2	103	0,1,6404	CC,CG,GG		0.0118,0.0,0.0078	probably-damaging	315/452	1038076	1,12809	2171	4234	6405	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038076G>C	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.944G>C	5.37:g.1038076G>C	ENSP00000296849:p.Arg315Pro					NKD2_uc010itf.1_3'UTR	p.R315P	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	949	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		315			Interaction with TGFA.		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.944G>C	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461210	0.26248	0.0	1.18E-4	ENSG00000145506	ENST00000296849	T	0.49139	0.79	3.73	2.84	0.33178	.	0.000000	0.56097	D	0.000030	T	0.59197	0.2176	L	0.60455	1.87	0.27975	N	0.936254	D	0.89917	1.0	D	0.85130	0.997	T	0.51593	-0.8686	10	0.72032	D	0.01	-6.8593	6.7989	0.23740	0.1368:0.0:0.8632:0.0	.	315	Q969F2	NKD2_HUMAN	P	315	ENSP00000296849:R315P	ENSP00000296849:R315P	R	+	2	0	NKD2	1091076	0.196000	0.23350	0.063000	0.19743	0.060000	0.15804	1.986000	0.40677	0.550000	0.28991	0.305000	0.20034	CGG		PASS	0.701	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		12	21	12	21	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3601130	3601130	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:3601130C>G	ENST00000302006.3	+	4	1471	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	473					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.I473M(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCGCGGATCCTAGCAGCCC	0.627																																						uc003jde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1417-1419)ATC>ATG		iroquois homeobox protein 1							50.0	55.0	53.0					5																	3601130		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601130C>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1419C>G	5.37:g.3601130C>G	ENSP00000305244:p.Ile473Met						p.I473M	NM_024337	NP_077313	P78414	IRX1_HUMAN			4	1471	+			473					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1419C>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531242	0.45073	.	.	ENSG00000170549	ENST00000302006	T	0.61742	0.08	4.77	3.76	0.43208	.	0.066378	0.64402	U	0.000016	T	0.56352	0.1979	L	0.54323	1.7	0.36595	D	0.874312	D	0.54964	0.969	P	0.53490	0.727	T	0.66304	-0.5957	10	0.72032	D	0.01	.	1.8726	0.03211	0.3344:0.4336:0.0:0.232	.	473	P78414	IRX1_HUMAN	M	473	ENSP00000305244:I473M	ENSP00000305244:I473M	I	+	3	3	IRX1	3654130	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.963000	0.29293	2.190000	0.69967	0.655000	0.94253	ATC		PASS	0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		42	111	42	111	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7706904	7706904	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:7706904T>C	ENST00000338316.4	+	8	1246	c.1157T>C	c.(1156-1158)gTg>gCg	p.V386A	ADCY2_ENST00000537121.1_Missense_Mutation_p.V206A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	386					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V386A(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGCGTGGGCGTGCATTCTGGG	0.473																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1156-1158)GTG>GCG		adenylate cyclase 2							293.0	256.0	268.0					5																	7706904		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706904T>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1157T>C	5.37:g.7706904T>C	ENSP00000342952:p.Val386Ala					ADCY2_uc011cmo.1_Missense_Mutation_p.V206A	p.V386A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			8	1224	+			386			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1157T>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673206	0.88445	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84223	-1.82;-1.82	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.89601	3.045	0.49798	D	0.999828	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.976	D	0.94838	0.8002	10	0.87932	D	0	.	15.2605	0.73617	0.0:0.0:0.0:1.0	.	206;386	B7Z2C1;Q08462	.;ADCY2_HUMAN	A	386;237;206	ENSP00000342952:V386A;ENSP00000444803:V206A	ENSP00000342952:V386A	V	+	2	0	ADCY2	7759904	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.817000	0.86213	2.008000	0.58898	0.533000	0.62120	GTG		PASS	0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		81	300	81	300	---	---	---	---
C6	729	broad.mit.edu	37	5	41181646	41181646	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:41181646C>A	ENST00000263413.3	-	7	1006	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D248Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	248	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.D248Y(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCAAGTCATCTTCTGCAGTT	0.348																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(742-744)GAT>TAT		complement component 6 precursor							45.0	44.0	45.0					5																	41181646		2202	4300	6502	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181646C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.742G>T	5.37:g.41181646C>A	ENSP00000263413:p.Asp248Tyr					C6_uc003jml.1_Missense_Mutation_p.D248Y	p.D248Y	NM_000065	NP_000056	P13671	CO6_HUMAN			7	952	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	248			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.742G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120970	0.77436	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61158	0.13;0.13	5.96	5.96	0.96718	Membrane attack complex component/perforin (MACPF) domain (1);	0.149212	0.64402	D	0.000010	T	0.80276	0.4593	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80801	-0.1220	10	0.56958	D	0.05	-18.4087	20.4192	0.99033	0.0:1.0:0.0:0.0	.	248	P13671	CO6_HUMAN	Y	248	ENSP00000338861:D248Y;ENSP00000263413:D248Y	ENSP00000263413:D248Y	D	-	1	0	C6	41217403	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.171000	0.64996	2.831000	0.97527	0.650000	0.86243	GAT		PASS	0.348	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			34	109	34	109	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42719278	42719278	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:42719278C>G	ENST00000230882.4	+	10	1859	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E	GHR_ENST00000357703.3_Missense_Mutation_p.Q535E|GHR_ENST00000537449.1_Missense_Mutation_p.Q370E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	557					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.Q557E(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATCACACATACAGCCAAGCTT	0.483																																						uc003jmt.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(1669-1671)CAG>GAG		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						122.0	100.0	108.0					5																	42719278		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42719278C>G		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1669C>G	5.37:g.42719278C>G	ENSP00000230882:p.Gln557Glu					GHR_uc011cpq.1_Missense_Mutation_p.Q370E	p.Q557E	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1712	+		Myeloproliferative disorder(839;0.00878)	557			Cytoplasmic (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1669C>G	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.793951	0.00077	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.32515	1.45;1.45;1.45	6.08	2.29	0.28610	.	0.657451	0.17515	N	0.171448	T	0.06280	0.0162	N	0.00155	-1.965	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.35599	-0.9782	10	0.26408	T	0.33	-0.888	6.3108	0.21164	0.1999:0.2504:0.5498:0.0	.	557	P10912	GHR_HUMAN	E	557;535;370	ENSP00000230882:Q557E;ENSP00000350335:Q535E;ENSP00000442206:Q370E	ENSP00000230882:Q557E	Q	+	1	0	GHR	42755035	1.000000	0.71417	0.120000	0.21714	0.192000	0.23643	3.089000	0.50183	0.139000	0.18822	-0.203000	0.12734	CAG		PASS	0.483	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		59	42	59	42	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262556	45262556	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:45262556C>A	ENST00000303230.4	-	8	2197	c.2140G>T	c.(2140-2142)Gct>Tct	p.A714S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	714					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A714S(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAAGTTCGAGCGGCCAGAGGG	0.652																																						uc003jok.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2140-2142)GCT>TCT		hyperpolarization activated cyclic							46.0	45.0	45.0					5																	45262556		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262556C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2140G>T	5.37:g.45262556C>A	ENSP00000307342:p.Ala714Ser						p.A714S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2165	-			714			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2140G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	4.807	0.150099	0.09185	.	.	ENSG00000164588	ENST00000303230	T	0.79352	-1.26	5.52	-4.99	0.03010	.	0.663225	0.13859	N	0.357771	T	0.47173	0.1431	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48445	-0.9035	10	0.06494	T	0.89	.	8.2412	0.31660	0.2645:0.5814:0.0:0.154	.	714	O60741	HCN1_HUMAN	S	714	ENSP00000307342:A714S	ENSP00000307342:A714S	A	-	1	0	HCN1	45298313	0.004000	0.15560	0.389000	0.26208	0.792000	0.44763	-0.112000	0.10791	-0.830000	0.04262	-1.261000	0.01458	GCT		PASS	0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		38	38	38	38	---	---	---	---
DIMT1	27292	broad.mit.edu	37	5	61690317	61690317	+	Silent	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:61690317T>A	ENST00000199320.4	-	7	724	c.564A>T	c.(562-564)ctA>ctT	p.L188L	DIMT1_ENST00000506390.1_Silent_p.L188L|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	188						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.L188L(1)									TTACTTTCATTAGATGGTCCA	0.433																																						uc003jta.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(562-564)CTA>CTT		dimethyladenosine transferase							100.0	100.0	100.0					5																	61690317		2203	4300	6503	SO:0001819	synonymous_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61690317T>A	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.564A>T	5.37:g.61690317T>A						DIMT1L_uc011cqq.1_Silent_p.L188L	p.L188L	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN		Lung(70;0.122)	7	693	-		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)	188					O76025|Q9BU77|Q9UES1	Silent	SNP	ENST00000199320.4	37	c.564A>T	CCDS3981.1																																																																																				PASS	0.433	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		63	34	63	34	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475948	140475948	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:140475948C>T	ENST00000194155.4	+	1	1722	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A525V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTACGAGGCCCTGCAGGCG	0.716																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1573-1575)GCC>GTC		protocadherin beta 2 precursor							75.0	83.0	80.0					5																	140475948		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475948C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1574C>T	5.37:g.140475948C>T	ENSP00000194155:p.Ala525Val					PCDHB2_uc003lim.1_Missense_Mutation_p.A186V	p.A525V	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1712	+			525			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1574C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743412	0.49151	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	4.5	2.65	0.31530	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.16790	0.44	0.24807	N	0.992665	B	0.32040	0.353	B	0.33690	0.168	T	0.44390	-0.9331	9	0.52906	T	0.07	.	6.4011	0.21638	0.4932:0.4158:0.0:0.091	.	525	Q9Y5E7	PCDB2_HUMAN	V	525	ENSP00000194155:A525V	ENSP00000194155:A525V	A	+	2	0	PCDHB2	140456132	0.000000	0.05858	0.993000	0.49108	0.986000	0.74619	0.614000	0.24314	0.993000	0.38866	0.556000	0.70494	GCC		PASS	0.716	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		79	37	79	37	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594268	140594268	+	Silent	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:140594268A>G	ENST00000341948.4	+	1	760	c.573A>G	c.(571-573)aaA>aaG	p.K191K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K191K(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGCAGGAAATACCCAGAGC	0.517																																						uc003lja.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(571-573)AAA>AAG		protocadherin beta 13 precursor							36.0	41.0	39.0					5																	140594268		2202	4280	6482	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594268A>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.573A>G	5.37:g.140594268A>G							p.K191K	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	760	+			191			Cadherin 2.|Extracellular (Potential).		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.573A>G	CCDS4255.1																																																																																				PASS	0.517	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		45	34	45	34	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755620	140755620	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:140755620C>A	ENST00000517434.1	+	1	1970	c.1970C>A	c.(1969-1971)aCt>aAt	p.T657N	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T657N(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCGCCACTGTCACGCTC	0.701																																						uc003ljy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1969-1971)ACT>AAT		protocadherin gamma subfamily A, 6 isoform 1							22.0	30.0	27.0					5																	140755620		2181	4263	6444	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755620C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1970C>A	5.37:g.140755620C>A	ENSP00000429601:p.Thr657Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T657N	p.T657N	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1970	+			657			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1970C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.463892	0.63513	.	.	ENSG00000253731	ENST00000517434	T	0.56275	0.47	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	0.000000	0.31834	U	0.006983	T	0.71239	0.3316	M	0.72118	2.19	0.37029	D	0.896609	D;D	0.67145	0.996;0.988	D;D	0.66602	0.945;0.919	T	0.78038	-0.2360	10	0.87932	D	0	.	18.4316	0.90627	0.0:1.0:0.0:0.0	.	657;657	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	N	657	ENSP00000429601:T657N	ENSP00000429601:T657N	T	+	2	0	PCDHGA6	140735804	0.992000	0.36948	0.793000	0.32043	0.539000	0.34962	3.661000	0.54503	2.658000	0.90341	0.563000	0.77884	ACT		PASS	0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		21	8	21	8	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169502994	169502994	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:169502994T>A	ENST00000256935.8	+	47	4852	c.4772T>A	c.(4771-4773)gTg>gAg	p.V1591E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V1083E|DOCK2_ENST00000540750.1_Missense_Mutation_p.V652E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1591	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V1591E(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGAAAAGGGTGTCAGATAAC	0.517																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(4771-4773)GTG>GAG		dedicator of cytokinesis 2							164.0	164.0	164.0					5																	169502994		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169502994T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4772T>A	5.37:g.169502994T>A	ENSP00000256935:p.Val1591Glu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V1083E|DOCK2_uc003mah.2_Missense_Mutation_p.V147E	p.V1591E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4852	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1591			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4772T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595524	0.66219	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.18810	2.19;2.19;2.19	5.18	5.18	0.71444	Cytochrome c domain (1);	0.065079	0.64402	D	0.000010	T	0.44222	0.1283	M	0.81497	2.545	0.52099	D	0.999946	D;B;P	0.58620	0.983;0.138;0.926	P;B;P	0.57425	0.82;0.307;0.669	T	0.48514	-0.9029	10	0.59425	D	0.04	.	15.3853	0.74695	0.0:0.0:0.0:1.0	.	1083;147;1591	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	E	1591;1083;652	ENSP00000256935:V1591E;ENSP00000429283:V1083E;ENSP00000438827:V652E	ENSP00000256935:V1591E	V	+	2	0	DOCK2	169435572	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	6.168000	0.71908	2.100000	0.63781	0.529000	0.55759	GTG		PASS	0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		144	71	144	71	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524724	51524725	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:51524724_51524725CA>AG	ENST00000371117.3	-	61	10474_10475	c.10199_10200TG>CT	c.(10198-10200)aTG>aCT	p.M3400T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3400					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.M3400T(2)|p.M3400I(1)		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)					TGAATCCTTGCATCAGAAATTG	0.342																																						uc003pah.1																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10198-10200)ATG>ATT|c.(10198-10200)ATG>ACG		fibrocystin isoform 1																																				SO:0001583	missense	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.chr6:51524724C>A|g.chr6:51524725A>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.10199_10200delinsAG	6.37:g.51524724_51524725delinsAG	ENSP00000360158:p.Met3400Thr						p.M3400I|p.M3400T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10476|10475	-	Lung NSC(77;0.0605)		3400			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10200G>T|c.10199T>C	CCDS4935.1																																																																																				PASS	0.342	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		38	29	38	29	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76580384	76580384	+	Silent	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:76580384G>C	ENST00000369977.3	+	19	2104	c.1965G>C	c.(1963-1965)ctG>ctC	p.L655L	MYO6_ENST00000369985.4_Silent_p.L655L|MYO6_ENST00000369975.1_Silent_p.L655L|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Silent_p.L655L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	655	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.L655L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATTTGCTTCTGGATAAACTTC	0.318																																						uc003pih.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(1963-1965)CTG>CTC		myosin VI							87.0	84.0	85.0					6																	76580384		2202	4296	6498	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76580384G>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1965G>C	6.37:g.76580384G>C						MYO6_uc003pig.1_Silent_p.L655L|MYO6_uc003pii.1_Silent_p.L655L	p.L655L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	19	2244	+		all_hematologic(105;0.189)	655			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.1965G>C	CCDS34487.1																																																																																				PASS	0.318	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		28	29	28	29	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112537599	112537599	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:112537599G>C	ENST00000230538.7	-	3	664	c.267C>G	c.(265-267)aaC>aaG	p.N89K	LAMA4_ENST00000522006.1_Missense_Mutation_p.N89K|LAMA4_ENST00000431543.2_Missense_Mutation_p.N89K|LAMA4_ENST00000389463.4_Missense_Mutation_p.N89K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N89K|LAMA4_ENST00000524032.1_5'UTR|RP1-142L7.9_ENST00000603682.1_lincRNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	89	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.N89K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAAACACTCGTTGGAATTGC	0.458																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(265-267)AAC>AAG		laminin, alpha 4 isoform 1 precursor							126.0	103.0	111.0					6																	112537599		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112537599G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.267C>G	6.37:g.112537599G>C	ENSP00000230538:p.Asn89Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.N89K|LAMA4_uc003pvt.2_Missense_Mutation_p.N89K|LAMA4_uc003pvw.2_Missense_Mutation_p.N89K	p.N89K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	3	576	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	89			Laminin EGF-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.267C>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834882	0.16820	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639;ENST00000519932;ENST00000431543	T;T;T;T;T;D;D	0.97404	-0.03;-0.03;-0.03;-0.03;-0.03;-4.37;-4.37	5.84	-7.24	0.01475	EGF-like, laminin (3);	0.393325	0.29948	N	0.010784	D	0.88819	0.6540	L	0.48877	1.53	0.43688	D	0.996133	B;B;B	0.25390	0.09;0.125;0.082	B;B;B	0.32289	0.04;0.143;0.041	T	0.69844	-0.5035	10	0.66056	D	0.02	.	4.8776	0.13664	0.5481:0.1781:0.1834:0.0903	.	89;89;89	Q6LET9;Q16363;Q16363-2	.;LAMA4_HUMAN;.	K	89	ENSP00000230538:N89K;ENSP00000429488:N89K;ENSP00000374114:N89K;ENSP00000416470:N89K;ENSP00000430336:N89K;ENSP00000428583:N89K;ENSP00000412136:N89K	ENSP00000230538:N89K	N	-	3	2	LAMA4	112644292	0.039000	0.19947	0.001000	0.08648	0.031000	0.12232	-0.957000	0.03861	-1.502000	0.01814	-0.757000	0.03467	AAC		PASS	0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		53	78	53	78	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121481233	121481233	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:121481233G>C	ENST00000398212.2	-	24	2745	c.2696C>G	c.(2695-2697)cCt>cGt	p.P899R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P940R|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	899					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P899R(1)									CATTGGCCAAGGATATGGATT	0.308																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2695-2697)CCT>CGT		hypothetical protein LOC221322							111.0	104.0	106.0					6																	121481233		1820	4083	5903	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121481233G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2696C>G	6.37:g.121481233G>C	ENSP00000381270:p.Pro899Arg					C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.P459R	p.P899R	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	24	2764	-			899					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2696C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414295	0.62511	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28666	1.6;1.6	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.54423	-0.8296	10	0.72032	D	0.01	.	18.7188	0.91686	0.0:0.0:1.0:0.0	.	940;899	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	940;899	ENSP00000275159:P940R;ENSP00000381270:P899R	ENSP00000275159:P940R	P	-	2	0	C6orf170	121522932	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.567000	0.67378	2.479000	0.83701	0.460000	0.39030	CCT		PASS	0.308	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		38	142	38	142	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				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.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333																																						uc010khc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(766-768)GTT>TTT		G protein-coupled receptor 126 alpha 1							82.0	83.0	83.0					6																	142691627		1819	4070	5889	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691627G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.766G>T	6.37:g.142691627G>T	ENSP00000230173:p.Val256Phe					GPR126_uc010khd.2_Missense_Mutation_p.V256F|GPR126_uc010khe.2_Missense_Mutation_p.V256F|GPR126_uc010khf.2_Missense_Mutation_p.V256F|GPR126_uc003qix.2_Missense_Mutation_p.V256F	p.V256F	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1177	+	Breast(32;0.176)		256			Pentaxin.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.766G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967816	0.18659	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.5	-1.11	0.09840	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.263410	0.05402	N	0.540829	T	0.33527	0.0866	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.41393	0.483;0.483;0.704;0.748	B;B;B;B	0.40410	0.22;0.22;0.22;0.328	T	0.36504	-0.9745	10	0.72032	D	0.01	.	6.3406	0.21321	0.4253:0.1184:0.4563:0.0	.	256;256;256;256	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	F	256	ENSP00000230173:V256F;ENSP00000356580:V256F;ENSP00000296932:V256F;ENSP00000356581:V256F	ENSP00000230173:V256F	V	+	1	0	GPR126	142733320	0.001000	0.12720	0.001000	0.08648	0.283000	0.27025	0.199000	0.17237	0.015000	0.14971	-0.145000	0.13849	GTT		PASS	0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			4	137	4	137	---	---	---	---
RAET1G	353091	broad.mit.edu	37	6	150239492	150239492	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:150239492G>T	ENST00000367360.2	-	4	727	c.660C>A	c.(658-660)gcC>gcA	p.A220A	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.A220A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CCCTGGGTTGGGCTGTGCCTG	0.587																																						uc010kii.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)GCC>GCA		retinoic acid early transcript 1G precursor							224.0	209.0	214.0					6																	150239492		2203	4300	6503	SO:0001819	synonymous_variant	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150239492G>T	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.660C>A	6.37:g.150239492G>T						uc003qni.1_Intron|RAET1G_uc003qnm.2_Intron	p.A220A	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	4	728	-		Ovarian(120;0.0907)	220			Extracellular (Potential).			Silent	SNP	ENST00000367360.2	37	c.660C>A	CCDS43514.1																																																																																				PASS	0.587	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			25	69	25	69	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151331065	151331065	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:151331065G>A	ENST00000367321.3	+	21	2510	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	746	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.A746T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AACGGTGCGAGCTCTGAAGAT	0.478																																						uc003qob.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2236-2238)GCT>ACT		methylenetetrahydrofolate dehydrogenase (NADP+							89.0	86.0	87.0					6																	151331065		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151331065G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2236G>A	6.37:g.151331065G>A	ENSP00000356290:p.Ala746Thr					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.A747T|MTHFD1L_uc003qoc.2_Missense_Mutation_p.A694T	p.A746T	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	21	2504	+		Ovarian(120;0.128)	746			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2236G>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429251	0.96131	.	.	ENSG00000120254	ENST00000367321	T	0.37411	1.2	4.43	4.43	0.53597	Formate-tetrahydrofolate ligase, FTHFS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.82362	-0.0495	10	0.62326	D	0.03	.	17.0632	0.86553	0.0:0.0:1.0:0.0	.	747;501;746	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	T	746	ENSP00000356290:A746T	ENSP00000356290:A746T	A	+	1	0	MTHFD1L	151372758	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.813000	0.99286	2.010000	0.58986	0.650000	0.86243	GCT		PASS	0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		8	114	8	114	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152163791	152163792	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:152163791_152163792AG>TA	ENST00000206249.3	+	2	874_875	c.512_513AG>TA	c.(511-513)aAG>aTA	p.K171I	ESR1_ENST00000338799.5_Missense_Mutation_p.K171I|ESR1_ENST00000456483.2_Missense_Mutation_p.K171I|ESR1_ENST00000440973.1_Missense_Mutation_p.K171I|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_5'UTR|ESR1_ENST00000443427.1_Missense_Mutation_p.K171I	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	171	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K171I(1)|p.K171K(1)|p.K171M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACCAATGACAAGGGAAGTATGG	0.47																																						uc003qom.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(511-513)AAG>ATG|c.(511-513)AAG>AAA		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)																																			SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152163791A>T|g.chr6:152163792G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	Exception_encountered	6.37:g.152163791_152163792delinsTA	ENSP00000206249:p.Lys171Ile					ESR1_uc010kin.2_Missense_Mutation_p.K171M|ESR1_uc010kio.2_Missense_Mutation_p.K171M|ESR1_uc010kip.2_Missense_Mutation_p.K171M|ESR1_uc003qon.3_Missense_Mutation_p.K171M|ESR1_uc003qoo.3_Missense_Mutation_p.K171M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Translation_Start_Site|ESR1_uc011eew.1_Missense_Mutation_p.R3W|ESR1_uc010kin.2_Silent_p.K171K|ESR1_uc010kio.2_Silent_p.K171K|ESR1_uc010kip.2_Silent_p.K171K|ESR1_uc003qon.3_Silent_p.K171K|ESR1_uc003qoo.3_Silent_p.K171K|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_5'UTR|ESR1_uc011eew.1_Missense_Mutation_p.R3K	p.K171M|p.K171K	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	882|883	+		Ovarian(120;0.0448)	171			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation|Silent	SNP	ENST00000206249.3	37	c.512A>T|c.513G>A	CCDS5234.1																																																																																				PASS	0.470	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			36|34	37	34	37	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152674504	152674504	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:152674504G>A	ENST00000367255.5	-	69	11748	c.11147C>T	c.(11146-11148)tCc>tTc	p.S3716F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S3687F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3701F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3701F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3716F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3716					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.S3716F(2)|p.S3701F(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)		ATCAGAATAGGAACTGAGGGA	0.368										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.(11146-11148)TCC>TTC		spectrin repeat containing, nuclear envelope 1							137.0	138.0	138.0					6																	152674504		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.chr6:152674504G>A	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.11147C>T	6.37:g.152674504G>A	ENSP00000356224:p.Ser3716Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S3701F|SYNE1_uc003qou.3_Missense_Mutation_p.S3716F|SYNE1_uc010kja.1_Missense_Mutation_p.S421F	p.S3716F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11749	-		Ovarian(120;0.0955)	3716			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.11147C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056272	0.36277	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55588	0.6;0.63;0.51;0.63;1.3	5.74	2.97	0.34412	.	0.602237	0.15763	N	0.245819	T	0.37237	0.0996	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.52316	0.952;0.952;0.952;0.94	P;P;P;P	0.48840	0.472;0.472;0.472;0.592	T	0.19063	-1.0317	10	0.62326	D	0.03	.	8.975	0.35930	0.1335:0.1231:0.7434:0.0	.	3716;3716;3716;3701	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	3716;3701;3716;3701;3687	ENSP00000356224:S3716F;ENSP00000396024:S3701F;ENSP00000265368:S3716F;ENSP00000390975:S3701F;ENSP00000341887:S3687F	ENSP00000265368:S3716F	S	-	2	0	SYNE1	152716197	1.000000	0.71417	0.415000	0.26534	0.677000	0.39632	3.664000	0.54525	0.340000	0.23745	0.650000	0.86243	TCC		PASS	0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		50	178	50	178	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155153569	155153569	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:155153569C>T	ENST00000367178.3	+	20	3432	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	SCAF8_ENST00000417268.1_Silent_p.I952I|SCAF8_ENST00000367186.4_Silent_p.I1018I|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	952	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.I952I(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AACGGGGAATCCCACCCCCAT	0.498																																						uc003qqa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2854-2856)ATC>ATT		RNA-binding motif protein 16							139.0	150.0	146.0					6																	155153569		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153569C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2856C>T	6.37:g.155153569C>T						TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Silent_p.I1018I|RBM16_uc011efk.1_Silent_p.I997I|RBM16_uc003qpz.2_Silent_p.I952I|RBM16_uc010kji.2_Intron	p.I952I	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	3088	+		Ovarian(120;0.196)	952			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.2856C>T	CCDS5247.1																																																																																				PASS	0.498	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		164	234	164	234	---	---	---	---
WDR27	253769	broad.mit.edu	37	6	170058390	170058390	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr6:170058390C>G	ENST00000448612.1	-	13	1493	c.1384G>C	c.(1384-1386)Gct>Cct	p.A462P	WDR27_ENST00000423258.1_Missense_Mutation_p.A335P|WDR27_ENST00000333572.6_Missense_Mutation_p.A462P|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	432						nucleus (GO:0005634)		p.A462P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGTTCACTAGCAGCCTTGGTA	0.512																																						uc003qwx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1384-1386)GCT>CCT		RecName: Full=WD repeat-containing protein 27;							84.0	84.0	84.0					6																	170058390		2087	4218	6305	SO:0001583	missense	253769							g.chr6:170058390C>G	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1384G>C	6.37:g.170058390C>G	ENSP00000416289:p.Ala462Pro					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.A462P|WDR27_uc003qwy.2_Missense_Mutation_p.A335P|WDR27_uc003qwz.1_Missense_Mutation_p.A195P	p.A462P			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	13	1904	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	432					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1384G>C	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646820	0.47258	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.25085	1.86;2.14;1.82	4.56	2.65	0.31530	.	0.727939	0.12206	N	0.489752	T	0.19446	0.0467	L	0.52573	1.65	0.09310	N	0.999998	D;D;D;B	0.71674	0.996;0.994;0.998;0.125	P;P;P;B	0.60541	0.823;0.832;0.876;0.067	T	0.07966	-1.0745	10	0.26408	T	0.33	-3.7567	7.4917	0.27466	0.1905:0.6254:0.1841:0.0	.	462;432;335;462	F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.;WDR27_HUMAN;.;.	P	462;462;335	ENSP00000416289:A462P;ENSP00000330265:A462P;ENSP00000397869:A335P	ENSP00000330265:A462P	A	-	1	0	WDR27	169800315	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.457000	0.21875	0.396000	0.25283	0.563000	0.77884	GCT		PASS	0.512	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		2	10	2	10	---	---	---	---
HEATR2	54919	broad.mit.edu	37	7	796505	796505	+	Silent	SNP	C	C	A	rs141887568		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:796505C>A	ENST00000297440.6	+	6	1364	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	HEATR2_ENST00000313147.5_Silent_p.P448P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	448						cytoplasm (GO:0005737)		p.P448P(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAAGACGCCCTCTGCCTCCG	0.627																																						uc010krz.1																			2	Substitution - coding silent(2)	p.P448P(1)	lung(1)|skin(1)	skin(1)	1						c.(1342-1344)CCC>CCA		HEAT repeat containing 2							82.0	84.0	83.0					7																	796505		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:796505C>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1344C>A	7.37:g.796505C>A						HEATR2_uc003siz.2_Silent_p.P316P	p.P448P	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1364	+		Ovarian(82;0.0112)	448					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1344C>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	1.137	-0.650608	0.03506	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.49	3.26	0.37387	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.23585	N	0.997359	.	.	.	.	.	.	T	0.18461	-1.0336	4	.	.	.	-65.3042	7.6956	0.28592	0.2529:0.625:0.0:0.1222	.	.	.	.	I	250	.	.	L	+	1	0	HEATR2	763031	0.918000	0.31147	0.979000	0.43373	0.044000	0.14063	0.857000	0.27831	1.246000	0.43901	0.655000	0.94253	CTC		PASS	0.627	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		67	107	67	107	---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4947205	4947205	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:4947205A>G	ENST00000404774.3	-	7	829	c.635T>C	c.(634-636)cTg>cCg	p.L212P	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.L188P	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	212						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.L212P(1)|p.L188P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCCGGTCACCAGCTCCCAGAT	0.602																																						uc003sno.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(634-636)CTG>CCG		monocyte to macrophage							68.0	72.0	71.0					7																	4947205		2009	4166	6175	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947205A>G	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.635T>C	7.37:g.4947205A>G	ENSP00000384690:p.Leu212Pro					MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.L188P|MMD2_uc010ksq.2_3'UTR	p.L212P	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	831	-		Ovarian(82;0.0175)	212			Helical; (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.635T>C	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532662	0.85812	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	T;T	0.36878	1.23;1.23	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000014	T	0.70535	0.3235	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.79921	-0.1599	10	0.87932	D	0	-10.1068	15.0227	0.71643	1.0:0.0:0.0:0.0	.	212;188	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	P	212;188	ENSP00000384690:L212P;ENSP00000384141:L188P	ENSP00000384141:L188P	L	-	2	0	MMD2	4913731	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.173000	0.94815	2.144000	0.66660	0.529000	0.55759	CTG		PASS	0.602	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		43	99	43	99	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255532	70255532	+	Silent	SNP	C	C	T	rs141714268		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:70255532C>T	ENST00000342771.4	+	19	3651	c.3330C>T	c.(3328-3330)taC>taT	p.Y1110Y	AUTS2_ENST00000406775.2_Silent_p.Y1086Y	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1110								p.Y1110Y(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCGGCTGTACGAAGCCGACC	0.652																																						uc003tvw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3328-3330)TAC>TAT		autism susceptibility candidate 2 isoform 1		C	,	0,4402		0,0,2201	11.0	13.0	12.0		3258,3330	3.1	0.8	7	dbSNP_134	12	4,8590		0,4,4293	no	coding-synonymous,coding-synonymous	AUTS2	NM_001127231.1,NM_015570.2	,	0,4,6494	TT,TC,CC		0.0465,0.0,0.0308	,	1086/1236,1110/1260	70255532	4,12992	2201	4297	6498	SO:0001819	synonymous_variant	26053							g.chr7:70255532C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3330C>T	7.37:g.70255532C>T						AUTS2_uc003tvx.3_Silent_p.Y1086Y|AUTS2_uc011keg.1_Silent_p.Y562Y	p.Y1110Y	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4073	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1110					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3330C>T	CCDS5539.1																																																																																				PASS	0.652	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			6	9	6	9	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70597840	70597840	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:70597840G>T	ENST00000333538.5	+	1	686	c.52G>T	c.(52-54)Gta>Tta	p.V18L		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	18					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V18L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTGATCGCGGTAGCCGGCTT	0.677																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(52-54)GTA>TTA		UDP-GalNAc:polypeptide							55.0	50.0	52.0					7																	70597840		2200	4300	6500	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597840G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.52G>T	7.37:g.70597840G>T	ENSP00000329654:p.Val18Leu						p.V18L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			1	52	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	18			Helical; Signal-anchor for type II membrane protein; (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.52G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112532	0.56398	.	.	ENSG00000185274	ENST00000333538	T	0.53857	0.6	4.85	4.85	0.62838	.	0.781295	0.11197	N	0.589258	T	0.38825	0.1055	N	0.19112	0.55	0.44241	D	0.997089	B	0.26195	0.144	B	0.15870	0.014	T	0.15009	-1.0452	10	0.15066	T	0.55	.	17.1215	0.86702	0.0:0.0:1.0:0.0	.	18	Q6IS24	GLTL3_HUMAN	L	18	ENSP00000329654:V18L	ENSP00000329654:V18L	V	+	1	0	WBSCR17	70235776	1.000000	0.71417	0.984000	0.44739	0.922000	0.55478	5.836000	0.69375	2.512000	0.84698	0.563000	0.77884	GTA		PASS	0.677	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		29	32	29	32	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70885948	70885948	+	Silent	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:70885948C>G	ENST00000333538.5	+	5	1453	c.819C>G	c.(817-819)ccC>ccG	p.P273P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	273					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P273P(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGATCCTCCCCTCCATTGACA	0.542																																						uc003tvy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(817-819)CCC>CCG		UDP-GalNAc:polypeptide							200.0	185.0	190.0					7																	70885948		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885948C>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.819C>G	7.37:g.70885948C>G						WBSCR17_uc003tvz.2_5'UTR	p.P273P	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	819	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	273			Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.819C>G	CCDS5540.1																																																																																				PASS	0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		118	265	118	265	---	---	---	---
CROT	54677	broad.mit.edu	37	7	87005147	87005147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:87005147C>T	ENST00000331536.3	+	9	939	c.754C>T	c.(754-756)Cga>Tga	p.R252*	CROT_ENST00000442291.1_Nonsense_Mutation_p.R252*|CROT_ENST00000419147.2_Nonsense_Mutation_p.R280*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	252					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.R252*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCTTTAGGCACGAGAATATCT	0.353																																						uc003uit.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(754-756)CGA>TGA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						81.0	80.0	80.0					7																	87005147		2203	4300	6503	SO:0001587	stop_gained	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87005147C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.754C>T	7.37:g.87005147C>T	ENSP00000331981:p.Arg252*					CROT_uc003uiu.2_Nonsense_Mutation_p.R280*	p.R252*	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			9	999	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		252					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Nonsense_Mutation	SNP	ENST00000331536.3	37	c.754C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703901	0.88924	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	.	.	.	5.48	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.53	14.3576	0.66748	0.5102:0.4898:0.0:0.0	.	.	.	.	X	280;252;252	.	ENSP00000331981:R252X	R	+	1	2	CROT	86843083	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	1.205000	0.32308	0.706000	0.31912	0.655000	0.94253	CGA		PASS	0.353	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		7	173	7	173	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89937162	89937162	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:89937162G>T	ENST00000389297.4	+	21	2795	c.2544G>T	c.(2542-2544)acG>acT	p.T848T	C7orf63_ENST00000497910.1_Silent_p.T830T|C7orf63_ENST00000316089.8_Silent_p.T802T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		848								p.T848T(1)|p.T802T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACGCTAAAACGTTAAAGGTAG	0.343																																						uc010lep.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2542-2544)ACG>ACT		hypothetical protein LOC79846 isoform 1							60.0	59.0	59.0					7																	89937162		1839	4088	5927	SO:0001819	synonymous_variant	79846						binding	g.chr7:89937162G>T																												ENST00000389297.4:c.2544G>T	7.37:g.89937162G>T						C7orf63_uc011khj.1_Silent_p.T830T|C7orf63_uc011khk.1_Silent_p.T364T	p.T848T	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			21	2795	+			848					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Silent	SNP	ENST00000389297.4	37	c.2544G>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	8.370	0.835074	0.16820	.	.	ENSG00000105792	ENST00000412839;ENST00000445156	.	.	.	5.17	-0.719	0.11201	.	.	.	.	.	T	0.52933	0.1765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-4.8426	7.2021	0.25887	0.5653:0.0:0.0935:0.3412	.	.	.	.	F	77;35	.	.	V	+	1	0	C7orf63	89775098	0.481000	0.25941	0.995000	0.50966	0.944000	0.59088	0.036000	0.13819	-0.317000	0.08677	-0.300000	0.09419	GTT		PASS	0.343	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			12	28	12	28	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650141	96650141	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:96650141C>G	ENST00000222598.4	-	3	1250	c.777G>C	c.(775-777)tgG>tgC	p.W259C	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	259					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)	p.W259C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CACTTGTGTACCAGGATGCAG	0.647																																						uc003uon.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)TGG>TGC		distal-less homeobox 5							65.0	62.0	63.0					7																	96650141		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650141C>G		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.777G>C	7.37:g.96650141C>G	ENSP00000222598:p.Trp259Cys						p.W259C	NM_005221	NP_005212	P56178	DLX5_HUMAN			3	985	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		259					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.777G>C	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960534	0.74016	.	.	ENSG00000105880	ENST00000222598	D	0.90261	-2.64	5.81	5.81	0.92471	.	0.120309	0.64402	D	0.000011	D	0.94598	0.8259	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	P	0.55667	0.781	D	0.94654	0.7842	10	0.72032	D	0.01	-3.2179	20.0826	0.97783	0.0:1.0:0.0:0.0	.	259	P56178	DLX5_HUMAN	C	259	ENSP00000222598:W259C	ENSP00000222598:W259C	W	-	3	0	DLX5	96488077	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.841000	0.69409	2.746000	0.94184	0.655000	0.94253	TGG		PASS	0.647	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			39	80	39	80	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99695279	99695279	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:99695279C>A	ENST00000303887.5	-	9	1720	c.1075G>T	c.(1075-1077)Gtc>Ttc	p.V359F	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.V183F	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.V359F(1)|p.V183F(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACACCCCCGACTAGCAGGAGC	0.507																																						uc003usw.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1075-1077)GTC>TTC		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						254.0	257.0	256.0					7																	99695279		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695279C>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1075G>T	7.37:g.99695279C>A	ENSP00000307288:p.Val359Phe					MCM7_uc003usv.1_Missense_Mutation_p.V183F|MCM7_uc003usx.1_Missense_Mutation_p.V183F	p.V359F	NM_005916	NP_005907	P33993	MCM7_HUMAN			9	1585	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		359			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1075G>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282442	0.95489	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.05447	3.44;3.44	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.28504	0.86	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25745	-1.0123	10	0.15066	T	0.55	-12.1899	16.0986	0.81148	0.0:1.0:0.0:0.0	.	359	P33993	MCM7_HUMAN	F	359;296;252;183	ENSP00000307288:V359F;ENSP00000346171:V183F	ENSP00000307288:V359F	V	-	1	0	MCM7	99533215	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.658000	0.46733	2.664000	0.90586	0.655000	0.94253	GTC		PASS	0.507	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			230	357	230	357	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100403230	100403230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:100403230C>T	ENST00000358173.3	-	15	3039	c.2571G>A	c.(2569-2571)tgG>tgA	p.W857*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.W857*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W857*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTCTTTCTGCCAACAGTCCA	0.637																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2569-2571)TGG>TGA		EPH receptor B4 precursor							68.0	77.0	74.0					7																	100403230		2203	4300	6503	SO:0001587	stop_gained	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403230C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2571G>A	7.37:g.100403230C>T	ENSP00000350896:p.Trp857*					EPHB4_uc003uwm.1_Nonsense_Mutation_p.W764*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W857*	p.W857*	NM_004444	NP_004435	P54760	EPHB4_HUMAN			15	3062	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		857			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	c.2571G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	44	10.882434	0.99483	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.95	4.95	0.65309	.	0.000000	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6516	0.77099	0.0:1.0:0.0:0.0	.	.	.	.	X	857	.	ENSP00000350896:W857X	W	-	3	0	EPHB4	100241166	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.792000	0.85828	2.303000	0.77524	0.462000	0.41574	TGG		PASS	0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		10	266	10	266	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100607832	100607832	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:100607832C>A	ENST00000319509.7	+	5	1979	c.1979C>A	c.(1978-1980)aCc>aAc	p.T660N	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2325	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.T660N(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGGTGAAGACCACGCTGAAG	0.647																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							98.0	87.0	91.0					7																	100607832		876	1991	2867	SO:0001583	missense	0							g.chr7:100607832C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1979C>A	7.37:g.100607832C>A	ENSP00000324834:p.Thr660Asn					uc003uxl.1_Missense_Mutation_p.T560N|uc003uxm.1_RNA|uc003uxn.1_RNA|uc010lhn.1_5'Flank								4		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.2363C>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.851260	0.32699	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.33865	1.39;1.39	2.96	-2.13	0.07144	SEA (3);	.	.	.	.	T	0.37865	0.1019	L	0.40543	1.245	0.22541	N	0.999003	D	0.58268	0.982	P	0.62014	0.897	T	0.41161	-0.9524	8	0.48119	T	0.1	-0.1156	2.456	0.04530	0.402:0.3297:0.0:0.2683	.	2325	Q02505	MUC3A_HUMAN	N	660;150	ENSP00000324834:T660N;ENSP00000406404:T150N	ENSP00000324834:T660N	T	+	2	0	MUC3A	100394552	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.294000	0.01144	-0.230000	0.09840	0.514000	0.50259	ACC		PASS	0.647	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		7	155	7	155	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112579794	112579794	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:112579794C>A	ENST00000297145.4	-	1	177	c.12G>T	c.(10-12)ggG>ggT	p.G4G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	4							rRNA (adenine) methyltransferase activity (GO:0016433)	p.G4G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GGCCGCCGGCCCCTGGCTCCA	0.731																																						uc003vgo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(10-12)GGG>GGT		hypothetical protein LOC154743							8.0	10.0	10.0					7																	112579794		1769	3971	5740	SO:0001819	synonymous_variant	154743							g.chr7:112579794C>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.12G>T	7.37:g.112579794C>A						C7orf60_uc011kms.1_Silent_p.G4G	p.G4G	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			1	139	-			4					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.12G>T	CCDS43634.1																																																																																				PASS	0.731	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		4	10	4	10	---	---	---	---
AKR1B15	441282	broad.mit.edu	37	7	134253073	134253073	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:134253073G>T	ENST00000457545.2	+	4	574	c.314G>T	c.(313-315)aGc>aTc	p.S105I	AKR1B15_ENST00000423958.1_Missense_Mutation_p.S77I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	105							oxidoreductase activity (GO:0016491)	p.S77I(2)|p.S105I(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TTCATCGTCAGCAAGGTGCAC	0.527																																						uc011kpr.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(313-315)AGC>ATC		aldo-keto reductase family 1, member B15							174.0	174.0	174.0					7																	134253073		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134253073G>T		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.314G>T	7.37:g.134253073G>T	ENSP00000389289:p.Ser105Ile					AKR1B15_uc003vrt.2_Missense_Mutation_p.S77I|AKR1B15_uc011kps.1_Missense_Mutation_p.S77I	p.S105I	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			4	613	+			105					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.314G>T	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	14.36	2.511507	0.44660	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.23552	1.9;1.9	2.72	2.72	0.32119	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.59945	0.2231	H	0.96301	3.8	0.80722	D	1	D;D;D	0.71674	0.984;0.998;0.977	D;D;D	0.71656	0.935;0.974;0.934	T	0.71823	-0.4476	9	0.72032	D	0.01	.	11.2294	0.48903	0.0:0.0:1.0:0.0	.	77;105;77	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	I	105;77	ENSP00000389289:S105I;ENSP00000397009:S77I	ENSP00000397009:S77I	S	+	2	0	AKR1B15	133903613	1.000000	0.71417	0.894000	0.35097	0.104000	0.19210	3.445000	0.52921	1.516000	0.48900	0.508000	0.49915	AGC		PASS	0.527	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			8	244	8	244	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135309982	135309982	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:135309982C>G	ENST00000285968.6	+	32	4576	c.4550C>G	c.(4549-4551)tCt>tGt	p.S1517C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1517					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1517C(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGTATCTTTCTAACAGTGGC	0.448																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4549-4551)TCT>TGT		nucleoporin 205kDa							150.0	135.0	140.0					7																	135309982		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135309982C>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4550C>G	7.37:g.135309982C>G	ENSP00000285968:p.Ser1517Cys					NUP205_uc003vsx.2_RNA	p.S1517C	NM_015135	NP_055950	Q92621	NU205_HUMAN			32	4581	+			1517					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4550C>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595507	0.28445	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	5.7	4.81	0.61882	.	0.047315	0.85682	D	0.000000	T	0.22513	0.0543	N	0.16368	0.405	0.80722	D	1	B	0.12013	0.005	B	0.18561	0.022	T	0.02093	-1.1215	10	0.37606	T	0.19	-31.2893	16.5657	0.84588	0.0:0.8694:0.1306:0.0	.	1517	Q92621	NU205_HUMAN	C	1517	ENSP00000285968:S1517C	ENSP00000285968:S1517C	S	+	2	0	NUP205	134960522	1.000000	0.71417	0.410000	0.26471	0.993000	0.82548	5.060000	0.64312	1.364000	0.46038	0.563000	0.77884	TCT		PASS	0.448	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			10	246	10	246	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141036	143141036	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:143141036A>T	ENST00000332690.1	+	1	491	c.491A>T	c.(490-492)cAc>cTc	p.H164L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	164					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H164L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATAGGCAACCACAGAATGTAT	0.448																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(490-492)CAC>CTC		taste receptor, type 2, member 60							149.0	148.0	148.0					7																	143141036		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141036A>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.491A>T	7.37:g.143141036A>T	ENSP00000327724:p.His164Leu					uc003wda.2_Intron	p.H164L	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	491	+	Melanoma(164;0.172)		164			Extracellular (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.491A>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270930	0.40194	.	.	ENSG00000185899	ENST00000332690	T	0.35789	1.29	5.1	1.42	0.22433	.	1.849100	0.03002	U	0.148327	T	0.39436	0.1078	L	0.55990	1.75	0.09310	N	1	P	0.45827	0.867	P	0.45071	0.468	T	0.18745	-1.0327	10	0.31617	T	0.26	.	6.7465	0.23464	0.7232:0.0:0.2768:0.0	.	164	P59551	T2R60_HUMAN	L	164	ENSP00000327724:H164L	ENSP00000327724:H164L	H	+	2	0	TAS2R60	142851158	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	0.598000	0.24074	0.088000	0.17205	0.482000	0.46254	CAC		PASS	0.448	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			108	215	108	215	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144062298	144062298	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:144062298G>A	ENST00000056217.5	+	2	2710	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	846					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D846N(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					ACCCATCATAGACCCTCCCAC	0.597																																						uc003wel.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2536-2538)GAC>AAC		rho guanine nucleotide exchange factor 5							15.0	20.0	18.0					7																	144062298		1794	3622	5416	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062298G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2536G>A	7.37:g.144062298G>A	ENSP00000056217:p.Asp846Asn					ARHGEF5_uc003wek.2_Missense_Mutation_p.D846N|ARHGEF5_uc003wem.2_5'Flank	p.D846N	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	2654	+	Melanoma(164;0.14)		846					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2536G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	g	3.090	-0.187118	0.06299	.	.	ENSG00000050327	ENST00000056217	T	0.75821	-0.97	4.27	0.435	0.16544	.	0.638257	0.12417	N	0.470731	T	0.58409	0.2120	L	0.34521	1.04	0.09310	N	0.999999	B	0.12013	0.005	B	0.10450	0.005	T	0.50224	-0.8853	10	0.66056	D	0.02	-3.6834	3.3717	0.07223	0.2917:0.0:0.5255:0.1827	.	846	Q12774	ARHG5_HUMAN	N	846	ENSP00000056217:D846N	ENSP00000056217:D846N	D	+	1	0	ARHGEF5	143693231	0.071000	0.21146	0.000000	0.03702	0.039000	0.13416	0.580000	0.23803	-0.100000	0.12241	-0.226000	0.12346	GAC		PASS	0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		17	36	17	36	---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155090172	155090172	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr7:155090172G>T	ENST00000340368.4	+	2	388	c.177G>T	c.(175-177)gcG>gcT	p.A59A	AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000342407.5_Silent_p.A59A|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	59					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.A59A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGACCCCGCGCCCAGGGGCC	0.721																																						uc003wly.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GCG>GCT		insulin induced gene 1 isoform 1							10.0	11.0	11.0					7																	155090172		2119	4164	6283	SO:0001819	synonymous_variant	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155090172G>T		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.177G>T	7.37:g.155090172G>T						INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Silent_p.A59A	p.A59A	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	388	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	59			Cytoplasmic.		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	ENST00000340368.4	37	c.177G>T	CCDS5938.1																																																																																				PASS	0.721	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		8	8	8	8	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1808301	1808301	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:1808301C>T	ENST00000398564.1	+	4	504	c.504C>T	c.(502-504)ccC>ccT	p.P168P	ARHGEF10_ENST00000349830.3_Silent_p.P144P|ARHGEF10_ENST00000262112.6_Silent_p.P168P|ARHGEF10_ENST00000398560.1_Silent_p.P168P|ARHGEF10_ENST00000520359.1_Silent_p.P144P|ARHGEF10_ENST00000518288.1_Silent_p.P168P			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	168					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P168P(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCCTGCTGCCCGCCTACTCCA	0.652																																						uc003wpr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(430-432)CCC>CCT		Rho guanine nucleotide exchange factor 10							101.0	88.0	93.0					8																	1808301		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808301C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.504C>T	8.37:g.1808301C>T						ARHGEF10_uc003wpq.1_Silent_p.P168P|ARHGEF10_uc003wps.2_Silent_p.P144P|ARHGEF10_uc003wpt.2_Silent_p.P58P|ARHGEF10_uc010lrd.1_Silent_p.P58P|ARHGEF10_uc003wpu.2_Silent_p.P58P	p.P144P	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	4	610	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	168					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.432C>T																																																																																					PASS	0.652	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				27	81	27	81	---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22861981	22861981	+	Missense_Mutation	SNP	G	G	A	rs144645186		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:22861981G>A	ENST00000251822.6	+	2	571	c.34G>A	c.(34-36)Gta>Ata	p.V12I	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.V19I|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.V34I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	12	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.V12I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AAGGCCAAACGTAGAGACCAT	0.597											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		20764	0.0		0.0	False		,,,				2504	0.0					uc003xcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(34-36)GTA>ATA		Rho-related BTB domain containing 2 isoform 3		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	134.0	101.0	112.0		100,55,34	4.7	1.0	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RHOBTB2	NM_001160036.1,NM_001160037.1,NM_015178.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	34/750,19/735,12/728	22861981	1,13005	2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22861981G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.34G>A	8.37:g.22861981G>A	ENSP00000251822:p.Val12Ile		OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	759	RHOBTB2_uc003xcp.2_Missense_Mutation_p.V34I|RHOBTB2_uc011kzp.1_Missense_Mutation_p.V19I	p.V12I	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	2	571	+		Prostate(55;0.0513)|Breast(100;0.214)	12			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.34G>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878784	0.91740	0.0	1.16E-4	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.33485	1.01	0.53005	D	0.99996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.03306	-1.1050	10	0.37606	T	0.19	.	16.4336	0.83861	0.0:0.0:1.0:0.0	.	19;12;34	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	I	34;34;19;12	ENSP00000427926:V34I;ENSP00000430785:V34I;ENSP00000429141:V19I;ENSP00000251822:V12I	ENSP00000251822:V12I	V	+	1	0	RHOBTB2	22917926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.644000	0.98468	2.456000	0.83038	0.561000	0.74099	GTA		PASS	0.597	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			26	83	26	83	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37756795	37756795	+	Silent	SNP	G	G	T	rs78017237	byFrequency	TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:37756795G>T	ENST00000330843.4	-	1	177	c.165C>A	c.(163-165)tcC>tcA	p.S55S	RAB11FIP1_ENST00000287263.4_Silent_p.S55S|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	55	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.S55S(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTCCGACACGGAGGTGGCGT	0.751																																						uc003xkm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(163-165)TCC>TCA		RAB11 family interacting protein 1 isoform 3							12.0	14.0	13.0					8																	37756795		2189	4278	6467	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37756795G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.165C>A	8.37:g.37756795G>T						RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Silent_p.S55S	p.S55S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		1	209	-		Lung NSC(58;0.118)|all_lung(54;0.195)	55			C2.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.165C>A	CCDS34882.1																																																																																				PASS	0.751	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		9	23	9	23	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53074075	53074075	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:53074075G>T	ENST00000276480.7	-	14	2137	c.1454C>A	c.(1453-1455)tCt>tAt	p.S485Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	485					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.S485Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCTCTGGGAGAGGTGATGGC	0.423																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1453-1455)TCT>TAT		suppression of tumorigenicity 18							158.0	148.0	151.0					8																	53074075		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53074075G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1454C>A	8.37:g.53074075G>T	ENSP00000276480:p.Ser485Tyr					ST18_uc011ldq.1_Missense_Mutation_p.S132Y|ST18_uc011ldr.1_Missense_Mutation_p.S450Y|ST18_uc011lds.1_Missense_Mutation_p.S390Y|ST18_uc003xra.2_Missense_Mutation_p.S485Y|ST18_uc003xrb.2_Missense_Mutation_p.S485Y	p.S485Y	NM_014682	NP_055497	O60284	ST18_HUMAN			9	1610	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	485					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1454C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053794	0.75960	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.50277	0.75;0.75	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.318772	0.36665	N	0.002479	T	0.54515	0.1863	M	0.65975	2.015	0.42510	D	0.99296	P;P	0.43885	0.82;0.517	P;B	0.47299	0.543;0.323	T	0.56673	-0.7940	10	0.49607	T	0.09	-2.9676	13.9763	0.64275	0.0729:0.0:0.9271:0.0	.	485;485	E5RHS3;O60284	.;ST18_HUMAN	Y	485	ENSP00000276480:S485Y;ENSP00000428521:S485Y	ENSP00000276480:S485Y	S	-	2	0	ST18	53236628	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.902000	0.63266	2.724000	0.93272	0.558000	0.71614	TCT		PASS	0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			60	124	60	124	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537321	55537321	+	Silent	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:55537321T>G	ENST00000220676.1	+	4	1027	c.879T>G	c.(877-879)tcT>tcG	p.S293S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	293					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S293S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGACTATTCTTTTGTTCCTG	0.303																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(877-879)TCT>TCG		retinitis pigmentosa RP1 protein							62.0	67.0	65.0					8																	55537321		2203	4297	6500	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537321T>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.879T>G	8.37:g.55537321T>G						RP1_uc011ldy.1_Intron	p.S293S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1027	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	293						Silent	SNP	ENST00000220676.1	37	c.879T>G	CCDS6160.1																																																																																				PASS	0.303	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	165	9	165	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72968009	72968009	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:72968009G>T	ENST00000262209.4	-	11	1483	c.1276C>A	c.(1276-1278)Cct>Act	p.P426T	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	426					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.P426T(1)		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)	ACAGAACCAGGGCCCCCCTGT	0.408																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1276-1278)CCT>ACT		ankyrin-like protein 1	Menthol(DB00825)						37.0	37.0	37.0					8																	72968009		2200	4279	6479	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72968009G>T	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.1276C>A	8.37:g.72968009G>T	ENSP00000262209:p.Pro426Thr						p.P426T	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1451	-			426			ANK 10.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1276C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552677	0.27739	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64438	-0.1;-0.1	5.1	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.202147	0.52532	D	0.000078	T	0.52757	0.1754	N	0.11313	0.125	0.28419	N	0.917809	P	0.36535	0.557	P	0.47118	0.538	T	0.49986	-0.8880	10	0.23302	T	0.38	-12.6418	16.6015	0.84817	0.0:0.1959:0.8041:0.0	.	426	O75762	TRPA1_HUMAN	T	278;426	ENSP00000428151:P278T;ENSP00000262209:P426T	ENSP00000262209:P426T	P	-	1	0	TRPA1	73130563	0.992000	0.36948	0.876000	0.34364	0.674000	0.39518	2.132000	0.42083	2.521000	0.84997	0.650000	0.86243	CCT		PASS	0.408	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		46	70	46	70	---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76463627	76463627	+	Silent	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:76463627A>T	ENST00000354370.1	+	5	516	c.246A>T	c.(244-246)gtA>gtT	p.V82V	HNF4G_ENST00000396423.2_Silent_p.V119V			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	82					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V119V(1)|p.V82V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCCTAGCTGTACAAAATGAAC	0.378																																						uc003yaq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(244-246)GTA>GTT		hepatocyte nuclear factor 4, gamma							112.0	90.0	97.0					8																	76463627		2203	4300	6503	SO:0001819	synonymous_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76463627A>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.246A>T	8.37:g.76463627A>T						HNF4G_uc003yar.2_Silent_p.V119V	p.V82V	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	516	+	Breast(64;0.0448)		82			Nuclear receptor.		Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37	c.246A>T																																																																																					PASS	0.378	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		35	49	35	49	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101117606	101117606	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:101117606T>A	ENST00000360863.6	-	2	244	c.50A>T	c.(49-51)gAa>gTa	p.E17V	RGS22_ENST00000523437.1_Missense_Mutation_p.E17V|RGS22_ENST00000523287.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	17					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E17V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTTACAAATTCTTCTTCTGT	0.328																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(49-51)GAA>GTA		regulator of G-protein signaling 22							94.0	98.0	97.0					8																	101117606		1823	4075	5898	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101117606T>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.50A>T	8.37:g.101117606T>A	ENSP00000354109:p.Glu17Val					RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.E17V|RGS22_uc010mbo.1_RNA	p.E17V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		2	245	-			17					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.50A>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	t	12.77	2.038578	0.35989	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	T;T	0.63744	-0.06;-0.06	4.96	-1.37	0.09056	.	1.402410	0.04637	N	0.404745	T	0.55529	0.1926	L	0.44542	1.39	0.19945	N	0.999945	B;B	0.27498	0.18;0.18	B;B	0.29440	0.102;0.102	T	0.53114	-0.8484	10	0.66056	D	0.02	.	9.5037	0.39033	0.0:0.6274:0.0:0.3726	.	17;17	A8K944;Q8NE09	.;RGS22_HUMAN	V	17	ENSP00000354109:E17V;ENSP00000428212:E17V	ENSP00000354109:E17V	E	-	2	0	RGS22	101186782	0.034000	0.19679	0.715000	0.30552	0.964000	0.63967	-0.200000	0.09478	-0.147000	0.11254	0.529000	0.55759	GAA		PASS	0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		5	193	5	193	---	---	---	---
EIF3H	8667	broad.mit.edu	37	8	117671117	117671117	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:117671117C>A	ENST00000276682.4	-	5	1200	c.434G>T	c.(433-435)cGg>cTg	p.R145L	EIF3H_ENST00000521861.1_Missense_Mutation_p.R131L					eukaryotic translation initiation factor 3, subunit H									p.R131L(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CAGGAGTGCCCGGGTAACGAA	0.428																																						uc003yoa.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(391-393)CGG>CTG		eukaryotic translation initiation factor 3,							153.0	139.0	144.0					8																	117671117		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117671117C>A	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.434G>T	8.37:g.117671117C>A	ENSP00000276682:p.Arg145Leu					EIF3H_uc003yob.2_Missense_Mutation_p.R145L|EIF3H_uc011lhz.1_Missense_Mutation_p.R131L	p.R131L	NM_003756	NP_003747	O15372	EIF3H_HUMAN			3	418	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		131			MPN.			Missense_Mutation	SNP	ENST00000276682.4	37	c.392G>T		.	.	.	.	.	.	.	.	.	.	C	13.83	2.353399	0.41700	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995;ENST00000522453	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	.	0.107846	0.64402	D	0.000004	T	0.37019	0.0988	N	0.11284	0.12	0.80722	D	1	B;B;B	0.17667	0.023;0.014;0.014	B;B;B	0.20384	0.029;0.013;0.013	T	0.13953	-1.0490	10	0.19590	T	0.45	-19.4207	19.5916	0.95514	0.0:1.0:0.0:0.0	.	131;145;131	B4DJN9;B3KS98;O15372	.;.;EIF3H_HUMAN	L	131;145;99;147;155	ENSP00000429931:R131L;ENSP00000276682:R145L;ENSP00000428195:R99L;ENSP00000428669:R147L;ENSP00000428885:R155L	ENSP00000276682:R145L	R	-	2	0	EIF3H	117740298	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGG		PASS	0.428	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		75	99	75	99	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133144497	133144497	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:133144497A>T	ENST00000388996.4	-	14	2234	c.1814T>A	c.(1813-1815)gTa>gAa	p.V605E	KCNQ3_ENST00000521134.1_Missense_Mutation_p.V485E|KCNQ3_ENST00000519445.1_Missense_Mutation_p.V593E	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	605					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V605E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGTCTGGCTACATATGGTTC	0.398																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1813-1815)GTA>GAA		potassium voltage-gated channel KQT-like protein							141.0	132.0	135.0					8																	133144497		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133144497A>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1814T>A	8.37:g.133144497A>T	ENSP00000373648:p.Val605Glu					KCNQ3_uc010mdt.2_Missense_Mutation_p.V593E	p.V605E	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		14	2039	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		605					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1814T>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629710	0.46944	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99129	-5.46;-5.41;-5.32	5.77	3.4	0.38934	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.644994	0.15371	N	0.265844	D	0.96691	0.8920	L	0.36672	1.1	0.32346	N	0.559049	B;B	0.21381	0.055;0.055	B;B	0.27170	0.077;0.077	D	0.95732	0.8775	10	0.33141	T	0.24	-0.0051	7.9877	0.30222	0.7773:0.0:0.2227:0.0	.	593;605	E7ET42;O43525	.;KCNQ3_HUMAN	E	605;485;593;582;484	ENSP00000373648:V605E;ENSP00000429799:V485E;ENSP00000428790:V593E	ENSP00000373648:V605E	V	-	2	0	KCNQ3	133213679	1.000000	0.71417	0.817000	0.32601	0.966000	0.64601	3.659000	0.54489	0.538000	0.28769	0.533000	0.62120	GTA		PASS	0.398	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		39	81	39	81	---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	140744269	140744269	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:140744269G>A	ENST00000438773.2	-	22	3365	c.3232C>T	c.(3232-3234)Cac>Tac	p.H1078Y	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.H1176Y|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.H1069Y|TRAPPC9_ENST00000522504.1_5'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1078					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.H1176Y(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACGGTGTCGTGCAGGTCGTAG	0.657																																						uc003yvj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3232-3234)CAC>TAC		trafficking protein particle complex 9 isoform							128.0	108.0	115.0					8																	140744269		2200	4300	6500	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140744269G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3232C>T	8.37:g.140744269G>A	ENSP00000405060:p.His1078Tyr					TRAPPC9_uc003yvh.2_Missense_Mutation_p.H1176Y	p.H1078Y	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			22	3366	-			1078					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.3232C>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.162706|2.162706	0.38217|0.38217	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	4.27|4.27	3.39|3.39	0.38822|0.38822	.|.	.|0.929213	.|0.09118	.|N	.|0.846091	T|T	0.32133|0.32133	0.0819|0.0819	N|N	0.08118|0.08118	0|0	0.30509|0.30509	N|N	0.769574|0.769574	.|B;B	.|0.23735	.|0.013;0.09	.|B;B	.|0.28709	.|0.06;0.093	T|T	0.37150|0.37150	-0.9718|-0.9718	5|9	.|0.62326	.|D	.|0.03	.|.	11.2919|11.2919	0.49256|0.49256	0.0887:0.0:0.9113:0.0|0.0887:0.0:0.9113:0.0	.|.	.|1078;1176	.|Q96Q05;Q96Q05-2	.|TPPC9_HUMAN;.	V|Y	921|1176;1069;1078	.|.	.|ENSP00000373978:H1069Y	A|H	-|-	2|1	0|0	TRAPPC9|TRAPPC9	140813451|140813451	1.000000|1.000000	0.71417|0.71417	0.764000|0.764000	0.31436|0.31436	0.606000|0.606000	0.37113|0.37113	5.309000|5.309000	0.65774|0.65774	1.133000|1.133000	0.42147|0.42147	0.650000|0.650000	0.86243|0.86243	GCA|CAC		PASS	0.657	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		12	10	12	10	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144995111	144995111	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr8:144995111T>G	ENST00000322810.4	-	32	9458	c.9289A>C	c.(9289-9291)Atc>Ctc	p.I3097L	PLEC_ENST00000357649.2_Missense_Mutation_p.I2964L|PLEC_ENST00000436759.2_Missense_Mutation_p.I2987L|PLEC_ENST00000398774.2_Missense_Mutation_p.I2928L|PLEC_ENST00000356346.3_Missense_Mutation_p.I2946L|PLEC_ENST00000345136.3_Missense_Mutation_p.I2960L|PLEC_ENST00000354958.2_Missense_Mutation_p.I2938L|PLEC_ENST00000354589.3_Missense_Mutation_p.I2960L|PLEC_ENST00000527096.1_Missense_Mutation_p.I2983L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3097	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.I2987L(1)|p.I2960L(1)|p.I3097L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCACCGTGATGATGATCTTG	0.622																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9289-9291)ATC>CTC		plectin isoform 1							30.0	34.0	33.0					8																	144995111		2081	4209	6290	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995111T>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9289A>C	8.37:g.144995111T>G	ENSP00000323856:p.Ile3097Leu					PLEC_uc003zab.1_Missense_Mutation_p.I2960L|PLEC_uc003zac.1_Missense_Mutation_p.I2964L|PLEC_uc003zad.2_Missense_Mutation_p.I2960L|PLEC_uc003zae.1_Missense_Mutation_p.I2928L|PLEC_uc003zag.1_Missense_Mutation_p.I2938L|PLEC_uc003zah.2_Missense_Mutation_p.I2946L|PLEC_uc003zaj.2_Missense_Mutation_p.I2987L	p.I3097L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9459	-			3097			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9289A>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057076	0.36277	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75589	-0.91;-0.91;-0.95;-0.95;-0.93;-0.91;-0.91;-0.91;-0.91	4.82	3.66	0.41972	.	0.000000	0.64402	U	0.000006	T	0.71273	0.3320	L	0.55834	1.745	0.46356	D	0.999002	P;P;P;P;P;P;P;P	0.52316	0.952;0.952;0.952;0.921;0.952;0.952;0.952;0.952	P;P;P;B;P;P;P;P	0.49301	0.606;0.606;0.606;0.401;0.606;0.606;0.606;0.606	T	0.65874	-0.6062	10	0.15499	T	0.54	.	9.6899	0.40123	0.0:0.0854:0.0:0.9146	.	2987;2946;2938;3097;2928;2960;2964;2960	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	2960;2964;2960;2928;3097;2938;2946;2987;2983	ENSP00000344848:I2960L;ENSP00000350277:I2964L;ENSP00000346602:I2960L;ENSP00000381756:I2928L;ENSP00000323856:I3097L;ENSP00000347044:I2938L;ENSP00000348702:I2946L;ENSP00000388180:I2987L;ENSP00000434583:I2983L	ENSP00000323856:I3097L	I	-	1	0	PLEC	145067099	1.000000	0.71417	0.984000	0.44739	0.802000	0.45316	6.166000	0.71896	0.806000	0.34183	0.368000	0.22195	ATC		PASS	0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	81	9	81	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						uc003zjr.2																			4	Substitution - Missense(4)		lung(2)|endometrium(1)|kidney(1)	ovary(3)	3						c.(2950-2952)ATA>CTA		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu					RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	p.I984L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2961	-		Acute lymphoblastic leukemia(23;0.158)	984			HEAT 7.		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		PASS	0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		3	109	3	109	---	---	---	---
MURC	347273	broad.mit.edu	37	9	103348698	103348698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:103348698G>T	ENST00000307584.5	+	2	1125	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	354					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.E354*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGAGGATGATGAATCTCTTTT	0.398																																						uc004bba.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1060-1062)GAA>TAA		muscle-related coiled-coil protein							47.0	52.0	50.0					9																	103348698		2198	4295	6493	SO:0001587	stop_gained	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348698G>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.1060G>T	9.37:g.103348698G>T	ENSP00000418668:p.Glu354*						p.E354*	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	1150	+		Acute lymphoblastic leukemia(62;0.0461)	354					B1PRL3|B4DT88	Nonsense_Mutation	SNP	ENST00000307584.5	37	c.1060G>T	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	36	5.932586	0.97116	.	.	ENSG00000170681	ENST00000307584	.	.	.	5.28	5.28	0.74379	.	0.862074	0.09452	U	0.800338	.	.	.	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.156	16.7664	0.85525	0.0:0.0:1.0:0.0	.	.	.	.	X	354	.	ENSP00000418668:E354X	E	+	1	0	MURC	102388519	0.996000	0.38824	0.995000	0.50966	0.989000	0.77384	4.633000	0.61318	2.630000	0.89119	0.555000	0.69702	GAA		PASS	0.398	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		23	91	23	91	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116769663	116769663	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:116769663A>G	ENST00000374126.5	+	7	683	c.584A>G	c.(583-585)aAg>aGg	p.K195R	ZNF618_ENST00000288466.7_Missense_Mutation_p.K163R			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	195					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.K163R(1)|p.K173R(1)|p.K195R(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ATCTGCGGGAAGAAGTACAAA	0.532																																						uc004bid.2																			3	Substitution - Missense(3)		lung(3)		0						c.(583-585)AAG>AGG		zinc finger protein 618							81.0	82.0	81.0					9																	116769663		2006	4161	6167	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116769663A>G	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.584A>G	9.37:g.116769663A>G	ENSP00000363241:p.Lys195Arg					ZNF618_uc004bib.1_Missense_Mutation_p.K163R|ZNF618_uc004bic.2_Missense_Mutation_p.K163R|ZNF618_uc011lxi.1_Missense_Mutation_p.K163R|ZNF618_uc011lxj.1_Missense_Mutation_p.K163R	p.K195R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			7	683	+			195			C2H2-type 2.		B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.584A>G		.	.	.	.	.	.	.	.	.	.	A	27.7	4.858293	0.91433	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.58101	1.795	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.992;0.999;0.959;0.998	D;D;D;P;D	0.87578	0.995;0.987;0.998;0.897;0.994	T	0.59231	-0.7493	10	0.87932	D	0	-32.7928	14.1679	0.65490	1.0:0.0:0.0:0.0	.	163;163;195;163;163	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	R	195;163;163;163	ENSP00000363241:K195R;ENSP00000288466:K163R;ENSP00000395400:K163R;ENSP00000363239:K163R	ENSP00000288466:K163R	K	+	2	0	ZNF618	115809484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.444000	0.90323	2.243000	0.73865	0.533000	0.62120	AAG		PASS	0.532	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		28	28	28	28	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117139707	117139707	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:117139707C>T	ENST00000307564.4	-	3	541	c.380G>A	c.(379-381)gGg>gAg	p.G127E	AKNA_ENST00000374075.5_Missense_Mutation_p.G46E|AKNA_ENST00000223791.3_5'Flank|AKNA_ENST00000312033.3_Missense_Mutation_p.G127E|AKNA_ENST00000374088.3_Missense_Mutation_p.G127E	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	127					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G127E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCGAGGGTCCCATCTGGCTC	0.607																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(379-381)GGG>GAG		AT-hook transcription factor							43.0	43.0	43.0					9																	117139707		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117139707C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.380G>A	9.37:g.117139707C>T	ENSP00000303769:p.Gly127Glu					AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.G46E|AKNA_uc004bir.3_Missense_Mutation_p.G127E|AKNA_uc004bis.3_Missense_Mutation_p.G127E|AKNA_uc010mve.2_Missense_Mutation_p.G8E|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.G127E|AKNA_uc004biw.1_Missense_Mutation_p.G127E	p.G127E	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			2	515	-			127					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.380G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060088	0.01950	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.24350	3.08;3.08;3.07;1.86	4.54	-0.0154	0.13976	.	0.617438	0.13645	N	0.372690	T	0.06371	0.0164	N	0.02539	-0.55	0.24497	N	0.994276	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.002	T	0.36553	-0.9743	10	0.02654	T	1	-6.8743	2.5022	0.04636	0.2259:0.3649:0.0:0.4092	.	127;127;46	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	E	127;127;46;127;127	ENSP00000303769:G127E;ENSP00000363201:G127E;ENSP00000363188:G46E;ENSP00000309222:G127E	ENSP00000303769:G127E	G	-	2	0	AKNA	116179528	0.000000	0.05858	0.007000	0.13788	0.089000	0.18198	0.105000	0.15333	0.145000	0.18977	0.456000	0.33151	GGG		PASS	0.607	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		59	49	59	49	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117188587	117188587	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:117188587T>C	ENST00000362057.3	-	4	1238	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374059.3_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	357	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.K357R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCGACGTCCTTCACTGTCAG	0.592																																						uc004biz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1069-1071)AAG>AGG		CASK-interacting protein CIP98 isoform 1							89.0	76.0	81.0					9																	117188587		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188587T>C	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1070A>G	9.37:g.117188587T>C	ENSP00000354623:p.Lys357Arg					DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.K357R	p.K357R	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			4	1719	-			357			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1070A>G	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040062	0.35989	.	.	ENSG00000095397	ENST00000362057	T	0.16324	2.35	5.05	5.05	0.67936	PDZ/DHR/GLGF (2);	0.049803	0.85682	D	0.000000	T	0.09512	0.0234	N	0.10782	0.045	0.80722	D	1	B;B	0.18013	0.007;0.025	B;B	0.31290	0.072;0.127	T	0.22173	-1.0224	10	0.10636	T	0.68	-30.3675	9.3458	0.38107	0.0:0.0805:0.0:0.9195	.	357;357	B9EGE6;Q9P202	.;WHRN_HUMAN	R	357	ENSP00000354623:K357R	ENSP00000354623:K357R	K	-	2	0	DFNB31	116228408	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.749000	0.55150	1.913000	0.55393	0.459000	0.35465	AAG		PASS	0.592	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		17	68	17	68	---	---	---	---
NEK6	10783	broad.mit.edu	37	9	127088623	127088623	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:127088623G>C	ENST00000320246.5	+	6	565	c.420G>C	c.(418-420)caG>caC	p.Q140H	NEK6_ENST00000545174.1_Missense_Mutation_p.Q140H|NEK6_ENST00000539416.1_Missense_Mutation_p.Q165H|NEK6_ENST00000394199.2_Missense_Mutation_p.Q174H|NEK6_ENST00000373600.3_Missense_Mutation_p.Q174H|NEK6_ENST00000373603.1_Missense_Mutation_p.Q140H|NEK6_ENST00000540326.1_Missense_Mutation_p.Q158H|NEK6_ENST00000546191.1_Missense_Mutation_p.Q140H	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.Q133H(1)|p.Q174H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TTAAGAAGCAGAAGCGGCTCA	0.602																																					NSCLC(122;934 1785 18647 44295 45571)	uc004bog.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(418-420)CAG>CAC		NIMA-related kinase 6 isoform 2							83.0	78.0	80.0					9																	127088623		2203	4300	6503	SO:0001583	missense	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127088623G>C	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.420G>C	9.37:g.127088623G>C	ENSP00000319734:p.Gln140His					NEK6_uc004bof.2_Missense_Mutation_p.Q158H|NEK6_uc004boh.2_Missense_Mutation_p.Q174H|NEK6_uc010mwj.2_Missense_Mutation_p.Q93H|NEK6_uc010mwk.2_Missense_Mutation_p.Q140H|NEK6_uc004boi.2_Missense_Mutation_p.Q140H	p.Q140H	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN			6	569	+			140			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	c.420G>C	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094761	0.56075	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.99	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056646	0.64402	D	0.000001	T	0.54498	0.1862	N	0.21282	0.65	0.54753	D	0.999986	B;B;B;B	0.12013	0.004;0.004;0.005;0.004	B;B;B;B	0.17722	0.019;0.012;0.014;0.012	T	0.51608	-0.8684	10	0.51188	T	0.08	.	14.5245	0.67878	0.0699:0.0:0.9301:0.0	.	165;174;140;158	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	H	140;158;174;140;72;140;140;72;140;140;174;174;140;140;165;140	ENSP00000362705:Q140H;ENSP00000441469:Q158H;ENSP00000362702:Q174H;ENSP00000319734:Q140H;ENSP00000442636:Q140H;ENSP00000389517:Q140H;ENSP00000405215:Q72H;ENSP00000362698:Q140H;ENSP00000403087:Q140H;ENSP00000399847:Q174H;ENSP00000377749:Q174H;ENSP00000441426:Q140H;ENSP00000411401:Q140H;ENSP00000439651:Q165H;ENSP00000403414:Q140H	ENSP00000319734:Q140H	Q	+	3	2	NEK6	126128444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	1.540000	0.49301	0.655000	0.94253	CAG		PASS	0.602	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		46	41	46	41	---	---	---	---
FCN2	2220	broad.mit.edu	37	9	137774436	137774436	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:137774436G>T	ENST00000291744.6	+	2	175	c.165G>T	c.(163-165)ctG>ctT	p.L55L	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	55	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.L55L(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTCCGGGGCTGCCTGGGGCCC	0.607																																						uc004cfg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(163-165)CTG>CTT		ficolin 2 isoform a precursor							61.0	69.0	67.0					9																	137774436		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137774436G>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.165G>T	9.37:g.137774436G>T						FCN2_uc004cfh.1_Intron	p.L55L	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	2	175	+		Myeloproliferative disorder(178;0.0333)	55			Collagen-like.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.165G>T	CCDS6983.1																																																																																				PASS	0.607	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		35	149	35	149	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139909524	139909524	+	Silent	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr9:139909524T>A	ENST00000371605.3	-	24	3867	c.3720A>T	c.(3718-3720)ccA>ccT	p.P1240P	ABCA2_ENST00000265662.5_Silent_p.P1241P|ABCA2_ENST00000341511.6_Silent_p.P1241P			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1240					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.P1241P(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGCCCGACCTGGGGGGCTGG	0.662																																						uc011mem.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3718-3720)CCA>CCT		ATP-binding cassette, sub-family A, member 2							27.0	34.0	32.0					9																	139909524		1913	4112	6025	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139909524T>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3720A>T	9.37:g.139909524T>A						ABCA2_uc011mel.1_Silent_p.P1241P|ABCA2_uc004ckl.1_Silent_p.P1171P|ABCA2_uc004ckm.1_Silent_p.P1271P|ABCA2_uc004ckn.1_RNA	p.P1240P	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	24	3868	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1240					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.3720A>T																																																																																					PASS	0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		33	68	33	68	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11504618	11504618	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:11504618G>A	ENST00000609104.1	-	15	2703	c.2309C>T	c.(2308-2310)gCa>gTa	p.A770V	USP6NL_ENST00000277575.5_Missense_Mutation_p.A787V|USP6NL_ENST00000379237.2_Missense_Mutation_p.A793V	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	770					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A787V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTGAAAGGGTGCGAGTTGAAA	0.493																																						uc001ikt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2308-2310)GCA>GTA		USP6 N-terminal like isoform 1							186.0	192.0	190.0					10																	11504618		1958	4163	6121	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11504618G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2309C>T	10.37:g.11504618G>A	ENSP00000476462:p.Ala770Val					USP6NL_uc001iks.1_Missense_Mutation_p.A787V	p.A770V	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2630	-			770					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.2309C>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.888818	0.00527	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03772	3.81;3.81	5.83	-2.85	0.05734	.	1.021630	0.07794	N	0.955452	T	0.02047	0.0064	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.46843	-0.9162	10	0.07325	T	0.83	.	2.5149	0.04666	0.3252:0.2531:0.3198:0.1019	.	770;787	Q92738;Q92738-2	US6NL_HUMAN;.	V	770;787;770	ENSP00000277575:A787V;ENSP00000368539:A770V	ENSP00000277575:A787V	A	-	2	0	USP6NL	11544624	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.022000	0.13511	-0.827000	0.04278	-0.895000	0.02911	GCA		PASS	0.493	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		141	84	141	84	---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15154953	15154953	+	Missense_Mutation	SNP	C	C	T	rs201047504		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:15154953C>T	ENST00000378165.4	-	10	1260	c.1180G>A	c.(1180-1182)Ggt>Agt	p.G394S	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.G381S|NMT2_ENST00000378150.1_Missense_Mutation_p.G381S|NMT2_ENST00000540259.1_Missense_Mutation_p.G206S	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	394					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.G394S(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GTCAGTTTACCGTTGGGGCTC	0.512																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1180-1182)GGT>AGT		N-myristoyltransferase 2							153.0	150.0	151.0					10																	15154953		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15154953C>T	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1180G>A	10.37:g.15154953C>T	ENSP00000367407:p.Gly394Ser					NMT2_uc001ioa.1_Missense_Mutation_p.G381S|NMT2_uc009xjo.1_Missense_Mutation_p.G394S|NMT2_uc010qbz.1_Missense_Mutation_p.G206S	p.G394S	NM_004808	NP_004799	O60551	NMT2_HUMAN			10	1264	-			394					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.1180G>A	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167142	0.57476	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.47528	0.84	5.74	5.74	0.90152	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.095052	0.64402	D	0.000001	T	0.57095	0.2030	M	0.79926	2.475	0.80722	D	1	P;P;P	0.44281	0.731;0.831;0.731	B;B;B	0.41466	0.358;0.229;0.229	T	0.63616	-0.6597	10	0.54805	T	0.06	-20.1679	19.9332	0.97128	0.0:1.0:0.0:0.0	.	394;381;394	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	S	394;381;425;206;381	ENSP00000367407:G394S	ENSP00000367385:G425S	G	-	1	0	NMT2	15194959	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	7.380000	0.79704	2.702000	0.92279	0.655000	0.94253	GGT		PASS	0.512	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		27	126	27	126	---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27459555	27459555	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:27459555C>G	ENST00000375940.4	+	8	1724	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	MASTL_ENST00000375946.4_Missense_Mutation_p.S556C|MASTL_ENST00000342386.6_Missense_Mutation_p.S556C|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.S556C(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTCTATGTTCTGATGATGAT	0.328																																						uc001itm.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(1666-1668)TCT>TGT		microtubule associated serine/threonine							59.0	62.0	61.0					10																	27459555		2203	4298	6501	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459555C>G	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1667C>G	10.37:g.27459555C>G	ENSP00000365107:p.Ser556Cys					MASTL_uc001itl.2_Missense_Mutation_p.S556C|MASTL_uc009xkw.1_Missense_Mutation_p.S556C|MASTL_uc009xkx.1_RNA	p.S556C	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	2306	+			556			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1667C>G	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565541	0.27915	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.24350	1.86;1.86;1.86	5.58	3.61	0.41365	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.389786	0.29806	N	0.011153	T	0.25269	0.0614	M	0.65975	2.015	0.29206	N	0.874881	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.14023	0.01;0.004;0.006	T	0.22556	-1.0213	10	0.62326	D	0.03	-1.4928	6.1527	0.20320	0.0:0.6751:0.1528:0.1721	.	556;556;556	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	C	556	ENSP00000365113:S556C;ENSP00000343446:S556C;ENSP00000365107:S556C	ENSP00000343446:S556C	S	+	2	0	MASTL	27499561	0.422000	0.25473	0.940000	0.37924	0.935000	0.57460	0.457000	0.21875	0.610000	0.30035	0.591000	0.81541	TCT		PASS	0.328	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		4	138	4	138	---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35929155	35929155	+	Missense_Mutation	SNP	C	C	A	rs377031138		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:35929155C>A	ENST00000374694.1	-	1	1207	c.1203G>T	c.(1201-1203)ttG>ttT	p.L401F	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	401					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L401F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTAGACCAGCAAGAAGACCA	0.672																																						uc001iyz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)TTG>TTT		frizzled 8 precursor							53.0	53.0	53.0					10																	35929155		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929155C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1203G>T	10.37:g.35929155C>A	ENSP00000363826:p.Leu401Phe						p.L401F	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	1208	-			401			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000374694.1	37	c.1203G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595634	0.28445	.	.	ENSG00000177283	ENST00000374694	D	0.85339	-1.97	3.77	2.83	0.33086	GPCR, family 2-like (1);	0.123969	0.34133	U	0.004225	D	0.91526	0.7324	M	0.82923	2.615	0.49213	D	0.999768	D	0.60575	0.988	D	0.69824	0.966	D	0.91596	0.5291	10	0.54805	T	0.06	.	12.8132	0.57651	0.0:0.8266:0.1734:0.0	.	401	Q9H461	FZD8_HUMAN	F	401	ENSP00000363826:L401F	ENSP00000363826:L401F	L	-	3	2	FZD8	35969161	1.000000	0.71417	0.967000	0.41034	0.040000	0.13550	0.536000	0.23129	0.878000	0.35920	0.281000	0.19383	TTG		PASS	0.672	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		23	25	23	25	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508589	37508589	+	Missense_Mutation	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:37508589G>C	ENST00000602533.1	+	34	3880	c.3781G>C	c.(3781-3783)Gag>Cag	p.E1261Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1261Q|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1380Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1317					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1261Q(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAACAGCAGGAGTCTCTAGA	0.368																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3781-3783)GAG>CAG		ankyrin repeat domain 30A							67.0	58.0	61.0					10																	37508589		1889	4104	5993	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508589G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3781G>C	10.37:g.37508589G>C	ENSP00000473551:p.Glu1261Gln						p.E1261Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3880	+			1317			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3781G>C		.	.	.	.	.	.	.	.	.	.	g	3.565	-0.088775	0.07097	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.20463	2.07;2.07	2.95	2.03	0.26663	.	.	.	.	.	T	0.31199	0.0789	L	0.52823	1.66	0.09310	N	1	D	0.69078	0.997	P	0.57101	0.813	T	0.08146	-1.0736	9	0.59425	D	0.04	.	7.4227	0.27081	0.1376:0.0:0.8624:0.0	.	1317	Q9BXX3	AN30A_HUMAN	Q	1261;1380	ENSP00000354432:E1261Q;ENSP00000363792:E1380Q	ENSP00000354432:E1261Q	E	+	1	0	ANKRD30A	37548595	1.000000	0.71417	0.003000	0.11579	0.005000	0.04900	3.116000	0.50399	0.434000	0.26340	0.471000	0.43371	GAG		PASS	0.368	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	45	4	45	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50960229	50960229	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:50960229C>T	ENST00000374103.4	-	5	629	c.544G>A	c.(544-546)Ggg>Agg	p.G182R	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.G125R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	182					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G182R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCAGAGCCCCCAATGAAGGTG	0.607																																						uc001jie.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(544-546)GGG>AGG		oxoglutarate dehydrogenase-like isoform a							56.0	56.0	56.0					10																	50960229		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50960229C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.544G>A	10.37:g.50960229C>T	ENSP00000363216:p.Gly182Arg					OGDHL_uc009xog.2_Missense_Mutation_p.G209R|OGDHL_uc010qgt.1_Missense_Mutation_p.G125R|OGDHL_uc010qgu.1_5'UTR|OGDHL_uc009xoh.2_5'UTR	p.G182R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			5	686	-			182					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.544G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322259	0.81580	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.06371	3.31;3.32	5.55	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.01390	-1.1367	10	0.44086	T	0.13	.	14.4885	0.67634	0.0:0.9292:0.0:0.0708	.	125;182	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	R	182;125	ENSP00000363216:G182R;ENSP00000401356:G125R	ENSP00000363216:G182R	G	-	1	0	OGDHL	50630235	1.000000	0.71417	0.900000	0.35374	0.987000	0.75469	7.487000	0.81328	1.351000	0.45789	0.591000	0.81541	GGG		PASS	0.607	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		20	13	20	13	---	---	---	---
MYOZ1	58529	broad.mit.edu	37	10	75393825	75393825	+	Splice_Site	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:75393825T>A	ENST00000359322.4	-	5	867		c.e5-2		RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1									p.?(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCTGGTCTCCTGGTAGCCATG	0.488																																						uc001jur.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e5-1		myozenin 1							37.0	35.0	35.0					10																	75393825		2203	4300	6503	SO:0001630	splice_region_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75393825T>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.503-2A>T	10.37:g.75393825T>A							p.G168_splice	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			5	868	-	Prostate(51;0.0112)								Splice_Site	SNP	ENST00000359322.4	37	c.503_splice	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427245	0.83667	.	.	ENSG00000177791	ENST00000359322	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYOZ1	75063831	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.057000	0.57455	2.371000	0.80710	0.533000	0.62120	.		PASS	0.488	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		Intron	3	31	3	31	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97919827	97919827	+	RNA	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:97919827A>G	ENST00000534948.1	+	0	4605							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.T1250A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TAGAAAAAAGACTTCCAAAAA	0.338																																						uc001klp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3748-3750)ACT>GCT		zinc finger protein 518							33.0	35.0	34.0					10																	97919827		1789	4046	5835			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919827A>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919827A>G						ZNF518A_uc001klo.1_Missense_Mutation_p.T720A|ZNF518A_uc001klq.2_Missense_Mutation_p.T1250A|ZNF518A_uc001klr.2_Missense_Mutation_p.T1250A	p.T1250A	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	4605	+		Colorectal(252;0.0815)	1250					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3748A>G																																																																																					PASS	0.338	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		5	69	5	69	---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118969568	118969568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:118969568G>T	ENST00000334549.1	+	3	913	c.913G>T	c.(913-915)Gag>Tag	p.E305*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	305					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.E305*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCTTCTGGGAGACACAGTT	0.488																																						uc010qsr.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(913-915)GAG>TAG		potassium channel, subfamily K, member 18							273.0	231.0	245.0					10																	118969568		2203	4300	6503	SO:0001587	stop_gained	338567					integral to membrane|plasma membrane		g.chr10:118969568G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.913G>T	10.37:g.118969568G>T	ENSP00000334650:p.Glu305*						p.E305*	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	913	+		Colorectal(252;0.19)	305					Q5SQQ8	Nonsense_Mutation	SNP	ENST00000334549.1	37	c.913G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245599	0.80024	.	.	ENSG00000186795	ENST00000334549	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5658	0.95391	0.0:0.0:1.0:0.0	.	.	.	.	X	305	.	ENSP00000334650:E305X	E	+	1	0	KCNK18	118959558	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.455000	0.97625	2.704000	0.92352	0.655000	0.94253	GAG		PASS	0.488	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		7	244	7	244	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124390004	124390004	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr10:124390004G>A	ENST00000338354.3	+	45	5742	c.5636G>A	c.(5635-5637)aGc>aAc	p.S1879N	DMBT1_ENST00000359586.6_Missense_Mutation_p.S599N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1251N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1251N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1869N|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1879N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1869N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1879					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.S1879N(2)|p.S2008N(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCTTCCCAAGCGGTAAGTGC	0.463																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(5635-5637)AGC>AAC		deleted in malignant brain tumors 1 isoform b							55.0	51.0	52.0					10																	124390004		1898	4125	6023	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390004G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5636G>A	10.37:g.124390004G>A	ENSP00000342210:p.Ser1879Asn					DMBT1_uc001lgl.1_Missense_Mutation_p.S1869N|DMBT1_uc001lgm.1_Missense_Mutation_p.S1251N|DMBT1_uc009xzz.1_Missense_Mutation_p.S1879N|DMBT1_uc010qtx.1_Missense_Mutation_p.S599N|DMBT1_uc009yab.1_Missense_Mutation_p.S582N|DMBT1_uc009yac.1_Missense_Mutation_p.S173N	p.S1879N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			45	5742	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1879					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5636G>A		.	.	.	.	.	.	.	.	.	.	G	8.373	0.835684	0.16820	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.25085	1.86;1.85;1.82;1.86;1.85;1.82;1.85	4.03	1.03	0.20045	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.24198	0.0586	N	0.21448	0.665	0.09310	N	1	B;D;P;D;P;D;B	0.60575	0.08;0.988;0.557;0.975;0.905;0.978;0.069	B;P;B;P;B;P;B	0.61070	0.037;0.836;0.152;0.883;0.291;0.882;0.053	T	0.15321	-1.0441	9	0.17832	T	0.49	.	3.8973	0.09144	0.4111:0.1804:0.4085:0.0	.	599;1859;1128;2008;1251;1869;1879	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	1879;2008;1879;1879;1879;1879;1251;1869;1251;1251;1879;1869;1251;25;599	ENSP00000342210:S1879N;ENSP00000343175:S1869N;ENSP00000327747:S1251N;ENSP00000357905:S1879N;ENSP00000357951:S1869N;ENSP00000357952:S1251N;ENSP00000352593:S599N	ENSP00000331522:S1251N	S	+	2	0	DMBT1	124379994	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-1.020000	0.03618	0.270000	0.21984	0.655000	0.94253	AGC		PASS	0.463	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		10	47	10	47	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	674723	674723	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:674723G>A	ENST00000382409.3	-	10	1800	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	DEAF1_ENST00000338675.6_Missense_Mutation_p.P350L|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	439	Interaction with LMO4. {ECO:0000250}.|Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P439L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GACCAACGCGGGAGGTGCCGC	0.562																																						uc001lqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)CCC>CTC		deformed epidermal autoregulatory factor 1							62.0	68.0	66.0					11																	674723		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:674723G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1316C>T	11.37:g.674723G>A	ENSP00000371846:p.Pro439Leu					DEAF1_uc009ycf.1_RNA	p.P439L	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	10	2009	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	439			Pro-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1316C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649863	0.29336	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.67865	-0.29	3.85	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	L	0.46157	1.445	0.58432	D	0.999998	P	0.34462	0.454	B	0.26614	0.071	T	0.65109	-0.6248	10	0.59425	D	0.04	-26.6303	15.0925	0.72207	0.0:0.0:1.0:0.0	.	439	O75398	DEAF1_HUMAN	L	439;350;425;362	ENSP00000371846:P439L	ENSP00000341902:P350L	P	-	2	0	DEAF1	664723	1.000000	0.71417	0.202000	0.23494	0.016000	0.09150	6.100000	0.71473	2.158000	0.67659	0.561000	0.74099	CCC		PASS	0.562	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		88	133	88	133	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264922	1264922	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:1264922C>A	ENST00000529681.1	+	31	6870	c.6812C>A	c.(6811-6813)aCc>aAc	p.T2271N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2274N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2271	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2271N(1)|p.T2274N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGGGACGACCACCCCGGGC	0.682																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(8725-8727)ACC>AAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							120.0	155.0	143.0					11																	1264922		2152	4231	6383	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264922C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6812C>A	11.37:g.1264922C>A	ENSP00000436812:p.Thr2271Asn					MUC5B_uc001ltb.2_Missense_Mutation_p.T2274N	p.T2909N	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	8852	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2271			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8726C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	9.645	1.140085	0.21205	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.24151	1.87;2.19	2.01	2.01	0.26516	.	.	.	.	.	T	0.37705	0.1013	L	0.53249	1.67	0.22954	N	0.998517	D;D	0.62365	0.991;0.991	P;P	0.58013	0.831;0.831	T	0.10064	-1.0646	9	0.87932	D	0	.	9.4411	0.38668	0.0:0.8798:0.0:0.1202	.	2909;2274	A7Y9J9;E9PBJ0	.;.	N	2271;2274;2272;2286	ENSP00000436812:T2271N;ENSP00000415793:T2274N	ENSP00000343037:T2272N	T	+	2	0	MUC5B	1221498	0.000000	0.05858	0.002000	0.10522	0.067000	0.16453	0.449000	0.21744	1.470000	0.48102	0.305000	0.20034	ACC		PASS	0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	196	34	196	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267380	1267380	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:1267380C>A	ENST00000529681.1	+	31	9328	c.9270C>A	c.(9268-9270)acC>acA	p.T3090T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3093T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3090	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3069T(1)|p.T3090T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCATGGCCACCATGTCCACAA	0.612																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(11017-11019)ACC>ACA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							140.0	168.0	159.0					11																	1267380		2118	4210	6328	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267380C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9270C>A	11.37:g.1267380C>A						MUC5B_uc001ltb.2_Silent_p.T3093T	p.T3673T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11145	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3090	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11019C>A	CCDS44515.2																																																																																				PASS	0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		37	56	37	56	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	3877612	3877612	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:3877612G>A	ENST00000300737.4	+	1	681	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AC090587.4_ENST00000430222.1_RNA|MIR4687_ENST00000583618.1_RNA|STIM1_ENST00000527651.1_Missense_Mutation_p.A38T|AC090587.5_ENST00000415809.1_RNA	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	38					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.A38T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CAGCTCGGGGGCCAACTCTGA	0.637																																						uc001lyv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(112-114)GCC>ACC		stromal interaction molecule 1 precursor							75.0	77.0	76.0					11																	3877612		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:3877612G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.112G>A	11.37:g.3877612G>A	ENSP00000300737:p.Ala38Thr					STIM1_uc009yef.2_Missense_Mutation_p.A38T	p.A38T	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	1	680	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	38			Extracellular (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.112G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.262995	0.10294	.	.	ENSG00000167323	ENST00000300737;ENST00000527651	T;T	0.77877	-0.1;-1.13	4.49	2.61	0.31194	.	0.337042	0.29522	N	0.011911	T	0.55401	0.1918	N	0.22421	0.69	0.27755	N	0.944029	B;B	0.14438	0.0;0.01	B;B	0.12837	0.001;0.008	T	0.41324	-0.9515	10	0.02654	T	1	.	6.2157	0.20653	0.1017:0.1875:0.7107:0.0	.	38;38	E9PQJ4;Q13586	.;STIM1_HUMAN	T	38	ENSP00000300737:A38T;ENSP00000436208:A38T	ENSP00000300737:A38T	A	+	1	0	STIM1	3834188	0.811000	0.29063	0.203000	0.23512	0.516000	0.34256	0.282000	0.18829	0.523000	0.28482	-0.226000	0.12346	GCC		PASS	0.637	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		6	144	6	144	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6646574	6646574	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:6646574G>A	ENST00000299441.3	-	19	7412	c.7001C>T	c.(7000-7002)aCg>aTg	p.T2334M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2334	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2334M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGGCCCCGTGAGGGAGAC	0.612																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(7000-7002)ACG>ATG		dachsous 1 precursor							66.0	65.0	65.0					11																	6646574		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646574G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7001C>T	11.37:g.6646574G>A	ENSP00000299441:p.Thr2334Met						p.T2334M	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	19	7411	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2334			Cadherin 22.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7001C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277059	0.40294	.	.	ENSG00000166341	ENST00000299441	T	0.55588	0.51	4.95	1.98	0.26296	Cadherin (4);Cadherin-like (1);	0.154096	0.30193	N	0.010194	T	0.45074	0.1324	L	0.58302	1.8	0.45415	D	0.998391	B	0.24317	0.101	B	0.22601	0.04	T	0.32534	-0.9903	10	0.48119	T	0.1	.	8.3527	0.32312	0.2669:0.0:0.7331:0.0	.	2334	Q96JQ0	PCD16_HUMAN	M	2334	ENSP00000299441:T2334M	ENSP00000299441:T2334M	T	-	2	0	DCHS1	6603150	0.998000	0.40836	0.907000	0.35723	0.993000	0.82548	2.628000	0.46477	0.240000	0.21263	0.655000	0.94253	ACG		PASS	0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		23	39	23	39	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867073	6867073	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:6867073C>A	ENST00000299454.4	+	1	191	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	OR10A5_ENST00000379831.2_Missense_Mutation_p.P58T			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	54					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P54T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTAGCTGACCCCATGCTACA	0.453																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(160-162)CCC>ACC		olfactory receptor, family 10, subfamily A,							195.0	190.0	192.0					11																	6867073		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867073C>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.160C>A	11.37:g.6867073C>A	ENSP00000299454:p.Pro54Thr						p.P54T	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	160	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	54			Cytoplasmic (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.160C>A	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	5.502	0.277625	0.10403	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.03982	3.74;3.74	3.3	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.128586	0.36066	N	0.002820	T	0.06554	0.0168	L	0.57130	1.785	0.09310	N	1	B	0.26512	0.151	B	0.32090	0.14	T	0.24083	-1.0170	10	0.66056	D	0.02	.	7.271	0.26256	0.0:0.7674:0.0:0.2326	.	54	Q9H207	O10A5_HUMAN	T	54;58	ENSP00000299454:P54T;ENSP00000369159:P58T	ENSP00000299454:P54T	P	+	1	0	OR10A5	6823649	0.000000	0.05858	0.038000	0.18304	0.392000	0.30506	-0.459000	0.06728	0.409000	0.25649	0.591000	0.81541	CCC		PASS	0.453	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		157	335	157	335	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48510836	48510836	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:48510836C>A	ENST00000446524.1	+	1	568	c.492C>A	c.(490-492)ctC>ctA	p.L164L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L164L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTTATGGGCTCCCATTCTGTG	0.448																																						uc010rhx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)CTC>CTA		olfactory receptor, family 4, subfamily A,							143.0	135.0	138.0					11																	48510836		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510836C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.492C>A	11.37:g.48510836C>A							p.L164L	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	492	+			164			Extracellular (Potential).			Silent	SNP	ENST00000446524.1	37	c.492C>A	CCDS31490.1																																																																																				PASS	0.448	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		153	226	153	226	---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70260667	70260667	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:70260667A>G	ENST00000301843.8	+	6	517	c.311A>G	c.(310-312)tAt>tGt	p.Y104C	CTTN_ENST00000346329.3_Missense_Mutation_p.Y104C|CTTN_ENST00000376561.3_Missense_Mutation_p.Y104C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	104					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.Y104C(3)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGCCACGAATATCAGTCGAAA	0.547																																						uc001opv.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(310-312)TAT>TGT		cortactin isoform a							154.0	132.0	140.0					11																	70260667		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70260667A>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.311A>G	11.37:g.70260667A>G	ENSP00000301843:p.Tyr104Cys					CTTN_uc001opu.2_Missense_Mutation_p.Y104C|CTTN_uc001opw.3_Missense_Mutation_p.Y104C	p.Y104C	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	6	517	+			104			Cortactin 1.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.311A>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.314476|4.314476	0.81358|0.81358	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000415461|ENST00000346329;ENST00000301843;ENST00000376561	.|T;T;T	.|0.54479	.|0.68;0.58;0.57	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75606|0.75606	0.3872|0.3872	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.999	T|T	0.80432|0.80432	-0.1385|-0.1385	5|10	.|0.87932	.|D	.|0	-34.8434|-34.8434	15.5188|15.5188	0.75846|0.75846	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|104;104;104	.|Q96H99;Q14247;Q8N707	.|.;SRC8_HUMAN;.	V|C	86|104	.|ENSP00000317189:Y104C;ENSP00000301843:Y104C;ENSP00000365745:Y104C	.|ENSP00000301843:Y104C	I|Y	+|+	1|2	0|0	CTTN|CTTN	69938315|69938315	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.848000|0.848000	0.48234|0.48234	8.931000|8.931000	0.92884|0.92884	2.078000|2.078000	0.62432|0.62432	0.533000|0.533000	0.62120|0.62120	ATC|TAT		PASS	0.547	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		34	92	34	92	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73753101	73753101	+	Silent	SNP	G	G	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:73753101G>C	ENST00000334126.7	-	29	5884	c.5658C>G	c.(5656-5658)ctC>ctG	p.L1886L	C2CD3_ENST00000313663.7_Silent_p.L1886L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1886					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.L1886L(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)					AGCCTCACCTGAGAGAAGTCA	0.488																																						uc001ouu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(5656-5658)CTC>CTG		C2 calcium-dependent domain containing 3							163.0	141.0	149.0					11																	73753101		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73753101G>C	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.5658C>G	11.37:g.73753101G>C						C2CD3_uc001out.2_RNA	p.L1886L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			29	5885	-	Breast(11;4.16e-06)		1886					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.5658C>G		.	.	.	.	.	.	.	.	.	.	G	12.60	1.987715	0.35036	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.82	3.9	0.45041	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60120	-0.7325	4	.	.	.	-12.7207	12.5843	0.56408	0.0:0.1274:0.7399:0.1327	.	.	.	.	E	120	.	.	Q	-	1	0	C2CD3	73430749	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.791000	0.38744	0.753000	0.32945	0.585000	0.79938	CAG		PASS	0.488	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		3	108	3	108	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76922973	76922973	+	Silent	SNP	C	C	T	rs397516329		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:76922973C>T	ENST00000409709.3	+	46	6617	c.6345C>T	c.(6343-6345)ttC>ttT	p.F2115F	MYO7A_ENST00000458637.2_Silent_p.F2077F|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.F2066F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2115	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.F2115F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCCTTCTTCGAGGTGAAGG	0.557																																						uc001oyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(6343-6345)TTC>TTT		myosin VIIA isoform 1							45.0	46.0	45.0					11																	76922973		2181	4270	6451	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76922973C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6345C>T	11.37:g.76922973C>T						MYO7A_uc001oyc.2_Silent_p.F2077F|MYO7A_uc001oye.2_RNA	p.F2115F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			46	6617	+			2115			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.6345C>T	CCDS53683.1																																																																																				PASS	0.557	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		3	58	3	58	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107299903	107299903	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:107299903T>A	ENST00000282251.5	-	8	1082	c.1055A>T	c.(1054-1056)aAc>aTc	p.N352I	CWF19L2_ENST00000433523.1_Missense_Mutation_p.N352I	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	352							catalytic activity (GO:0003824)	p.N198I(1)|p.N352I(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTGCCTTGGGTTAGATTCTCT	0.358																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1054-1056)AAC>ATC		CWF19-like 2, cell cycle control							102.0	106.0	104.0					11																	107299903		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107299903T>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1055A>T	11.37:g.107299903T>A	ENSP00000282251:p.Asn352Ile					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.N352I	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1085	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	352					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1055A>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	2.173	-0.389458	0.04932	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.22945	1.93;1.93	5.26	-6.93	0.01638	.	1.436390	0.03557	N	0.226483	T	0.18045	0.0433	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.19614	-1.0300	10	0.37606	T	0.19	-5.0E-4	4.3197	0.11011	0.1011:0.4325:0.2152:0.2512	.	352	Q2TBE0	C19L2_HUMAN	I	352	ENSP00000282251:N352I;ENSP00000387533:N352I	ENSP00000282251:N352I	N	-	2	0	CWF19L2	106805113	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.315000	0.08081	-1.334000	0.02244	0.482000	0.46254	AAC		PASS	0.358	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		59	117	59	117	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120998686	120998686	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:120998686C>A	ENST00000392793.1	+	9	2271	c.2000C>A	c.(1999-2001)gCc>gAc	p.A667D	TECTA_ENST00000264037.2_Missense_Mutation_p.A667D			O75443	TECTA_HUMAN	tectorin alpha	667					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A667D(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTTCTGGGCCACGGCCAAC	0.642																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1999-2001)GCC>GAC		tectorin alpha precursor							86.0	72.0	77.0					11																	120998686		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998686C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2000C>A	11.37:g.120998686C>A	ENSP00000376543:p.Ala667Asp						p.A667D	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2000	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	667						Missense_Mutation	SNP	ENST00000392793.1	37	c.2000C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586185	0.86851	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.37	5.37	0.77165	.	0.055462	0.64402	D	0.000001	T	0.16041	0.0386	L	0.50333	1.59	0.45662	D	0.998585	D	0.56287	0.975	P	0.56514	0.8	T	0.04495	-1.0947	10	0.19590	T	0.45	.	19.4701	0.94959	0.0:1.0:0.0:0.0	.	667	O75443	TECTA_HUMAN	D	667	ENSP00000376543:A667D;ENSP00000264037:A667D	ENSP00000264037:A667D	A	+	2	0	TECTA	120503896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.740000	0.62087	2.681000	0.91329	0.655000	0.94253	GCC		PASS	0.642	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	98	5	98	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676802	123676802	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:123676802C>T	ENST00000309154.2	-	1	293	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E86K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTTTTCTCTTCTCCTAGGAGG	0.433																																						uc010rzz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(256-258)GAA>AAA		olfactory receptor, family 6, subfamily M,							103.0	94.0	97.0					11																	123676802		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676802C>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.256G>A	11.37:g.123676802C>T	ENSP00000311038:p.Glu86Lys						p.E86K	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	256	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	86			Extracellular (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.256G>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	2.043	-0.419641	0.04734	.	.	ENSG00000196099	ENST00000309154	T	0.01335	5.0	3.76	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.780907	0.10387	U	0.680892	T	0.01156	0.0038	N	0.12502	0.225	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.48375	-0.9041	10	0.37606	T	0.19	.	8.8672	0.35294	0.0:0.8867:0.0:0.1133	.	86	Q8NGM8	OR6M1_HUMAN	K	86	ENSP00000311038:E86K	ENSP00000311038:E86K	E	-	1	0	OR6M1	123182012	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.150000	0.10189	0.773000	0.33404	0.655000	0.94253	GAA		PASS	0.433	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		13	139	13	139	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416829	416829	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:416829G>A	ENST00000399788.2	-	23	4083	c.3721C>T	c.(3721-3723)Cct>Tct	p.P1241S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1241S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1241					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1241S(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTCCTTCAGGCAACCGTACG	0.532			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(3721-3723)CCT>TCT		retinoblastoma binding protein 2 isoform 1							77.0	77.0	77.0					12																	416829		1936	4134	6070	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416829G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3721C>T	12.37:g.416829G>A	ENSP00000382688:p.Pro1241Ser					KDM5A_uc001qie.1_Missense_Mutation_p.P1241S	p.P1241S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			23	4084	-			1241					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3721C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830000	0.91036	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01084	5.36;5.36	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.07234	0.0183	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.97110	0.78;1.0	T	0.01899	-1.1251	10	0.87932	D	0	-15.9881	20.0973	0.97856	0.0:0.0:1.0:0.0	.	1241;1241	P29375;P29375-2	KDM5A_HUMAN;.	S	1241	ENSP00000382688:P1241S;ENSP00000372265:P1241S	ENSP00000372265:P1241S	P	-	1	0	KDM5A	287090	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.768000	0.98965	2.830000	0.97506	0.585000	0.79938	CCT		PASS	0.532	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		91	105	91	105	---	---	---	---
PRH2	5555	broad.mit.edu	37	12	11082904	11082904	+	Splice_Site	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:11082904G>A	ENST00000396400.3	+	2	138		c.e2+1		PRH2_ENST00000381847.3_Splice_Site|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2							extracellular space (GO:0005615)		p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						GTAATATCAGGTAAATCCCAA	0.383																																						uc009zhr.2																			1	Unknown(1)		lung(1)		0						c.e2+1		proline-rich protein HaeIII subfamily 2							163.0	156.0	159.0					12																	11082904		2203	4300	6503	SO:0001630	splice_region_variant	5555					extracellular space	protein binding	g.chr12:11082904G>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.100+1G>A	12.37:g.11082904G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Splice_Site_p.D34_splice|PRH2_uc001qzi.3_Splice_Site_p.D34_splice	p.D34_splice	NM_001110213	NP_001103683	P02810	PRPC_HUMAN			2	138	+								A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Splice_Site	SNP	ENST00000396400.3	37	c.100_splice	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	G	2.179	-0.387959	0.04932	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	.	.	.	0.427	0.427	0.16489	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	PRH2	10974171	0.024000	0.19004	0.056000	0.19401	0.067000	0.16453	0.153000	0.16323	0.460000	0.27045	0.194000	0.17425	.		PASS	0.383	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213	Intron	69	132	69	132	---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53473103	53473103	+	Silent	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:53473103C>G	ENST00000301463.4	-	1	101	c.15G>C	c.(13-15)cgG>cgC	p.R5R	SPRYD3_ENST00000547837.1_Silent_p.R5R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	5								p.R5R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACCGGGGCCGCCGCGTCCTCC	0.716																																						uc001sbt.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(13-15)CGG>CGC		SPRY domain containing 3							9.0	12.0	11.0					12																	53473103		2162	4251	6413	SO:0001819	synonymous_variant	84926							g.chr12:53473103C>G	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.15G>C	12.37:g.53473103C>G						SPRYD3_uc010snw.1_5'UTR	p.R5R	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			1	36	-			5					B9EG99|Q96SK5	Silent	SNP	ENST00000301463.4	37	c.15G>C	CCDS8845.1																																																																																				PASS	0.716	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		10	4	10	4	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54912482	54912482	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:54912482C>A	ENST00000293373.6	+	14	1465	c.1386C>A	c.(1384-1386)ttC>ttA	p.F462L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.F412L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	462					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.F462L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTCCTCATTCGTCAGTATCC	0.473																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1384-1386)TTC>TTA		NCK-associated protein 1-like							223.0	188.0	200.0					12																	54912482		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54912482C>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1386C>A	12.37:g.54912482C>A	ENSP00000293373:p.Phe462Leu					NCKAP1L_uc010sox.1_Missense_Mutation_p.F4L|NCKAP1L_uc010soy.1_Missense_Mutation_p.F412L	p.F462L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			14	1465	+			462					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1386C>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348047	0.61183	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.26223	1.75;1.75	5.77	-1.55	0.08558	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.41824	1.3	0.45676	D	0.998594	D	0.76494	0.999	D	0.80764	0.994	T	0.02477	-1.1153	10	0.27082	T	0.32	-21.0496	11.3722	0.49707	0.0:0.3043:0.0:0.6957	.	462	P55160	NCKPL_HUMAN	L	462;412	ENSP00000293373:F462L;ENSP00000445596:F412L	ENSP00000293373:F462L	F	+	3	2	NCKAP1L	53198749	0.063000	0.20901	0.994000	0.49952	0.846000	0.48090	-0.828000	0.04419	-0.172000	0.10779	-0.258000	0.10820	TTC		PASS	0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		89	75	89	75	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77220766	77220766	+	Missense_Mutation	SNP	G	G	C	rs561106660	byFrequency	TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:77220766G>C	ENST00000426126.2	+	9	1625	c.976G>C	c.(976-978)Gat>Cat	p.D326H	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.D326H	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	326					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.D326H(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCTAAATATTGATTCTTGGCT	0.338													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15946	0.0		0.0	False		,,,				2504	0.001					uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)GAT>CAT		huntingtin interacting protein 14							184.0	178.0	179.0					12																	77220766		1827	4081	5908	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77220766G>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.976G>C	12.37:g.77220766G>C	ENSP00000403397:p.Asp326His					ZDHHC17_uc001syj.2_RNA	p.D326H	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			9	1139	+			326			Helical; (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.976G>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446149	0.96187	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.32753	1.44;1.44	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.46157	1.445	0.80722	D	1	D	0.59767	0.986	P	0.52856	0.711	T	0.16100	-1.0414	10	0.51188	T	0.08	-14.7117	19.8863	0.96913	0.0:0.0:1.0:0.0	.	326	Q8IUH5	ZDH17_HUMAN	H	326	ENSP00000403397:D326H;ENSP00000334868:D326H	ENSP00000334868:D326H	D	+	1	0	ZDHHC17	75744897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.688000	0.91661	0.650000	0.86243	GAT		PASS	0.338	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		10	170	10	170	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85257356	85257356	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:85257356C>A	ENST00000266682.5	-	11	2221	c.1680G>T	c.(1678-1680)atG>atT	p.M560I	SLC6A15_ENST00000309283.7_Missense_Mutation_p.M268I|SLC6A15_ENST00000552192.1_Missense_Mutation_p.M453I	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	560					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.M560I(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAAAGCCCAGCATATCTTTTA	0.289																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1678-1680)ATG>ATT		solute carrier family 6, member 15 isoform 1							44.0	48.0	47.0					12																	85257356		2202	4295	6497	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85257356C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1680G>T	12.37:g.85257356C>A	ENSP00000266682:p.Met560Ile					SLC6A15_uc010sul.1_Missense_Mutation_p.M453I|SLC6A15_uc001szw.1_Missense_Mutation_p.M268I	p.M560I	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			11	2173	-			560					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1680G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564682	0.86439	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000552192;ENST00000548267	T;T;T	0.77489	-1.1;-1.1;-1.1	5.55	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	M	0.89534	3.04	0.80722	D	1	D;D	0.69078	0.964;0.997	P;D	0.70227	0.841;0.968	D	0.91614	0.5305	10	0.87932	D	0	.	15.8295	0.78741	0.1363:0.8637:0.0:0.0	.	268;560	F8WJN6;Q9H2J7	.;S6A15_HUMAN	I	268;560;453;38	ENSP00000311645:M268I;ENSP00000266682:M560I;ENSP00000450145:M453I	ENSP00000266682:M560I	M	-	3	0	SLC6A15	83781487	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.672000	0.68102	2.608000	0.88229	0.585000	0.79938	ATG		PASS	0.289	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		91	74	91	74	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042517	100042517	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:100042517G>A	ENST00000324341.1	+	1	987	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	189								p.G189R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TATCCTAGCTGGGAACACATT	0.512																																						uc001tgn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GGG>AGG		hypothetical protein LOC196472							50.0	38.0	42.0					12																	100042517		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042517G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.565G>A	12.37:g.100042517G>A	ENSP00000315247:p.Gly189Arg					ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.G189R	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	987	+			189					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.565G>A	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802887	0.50315	.	.	ENSG00000180219	ENST00000324341	T	0.10005	2.92	4.63	0.238	0.15480	.	0.315582	0.22947	N	0.053708	T	0.10508	0.0257	N	0.24115	0.695	0.09310	N	1	D	0.58970	0.984	P	0.57283	0.817	T	0.17077	-1.0381	9	.	.	.	-3.6255	3.367	0.07207	0.0972:0.3121:0.4305:0.1602	.	189	Q8NEG0	FA71C_HUMAN	R	189	ENSP00000315247:G189R	.	G	+	1	0	FAM71C	98566648	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.212000	0.17497	-0.062000	0.13088	0.555000	0.69702	GGG		PASS	0.512	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		15	40	15	40	---	---	---	---
TCHP	84260	broad.mit.edu	37	12	110340868	110340868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:110340868C>T	ENST00000312777.5	+	2	251	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.Q13*	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding									p.Q13*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTGGTGCAGCCAGCAGCGCCT	0.607																																						uc001tpn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(37-39)CAG>TAG		trichoplein							56.0	58.0	57.0					12																	110340868		2203	4300	6503	SO:0001587	stop_gained	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110340868C>T	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.37C>T	12.37:g.110340868C>T	ENSP00000324404:p.Gln13*					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Nonsense_Mutation_p.Q13*	p.Q13*	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			2	190	+			13			Potential.			Nonsense_Mutation	SNP	ENST00000312777.5	37	c.37C>T	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448615	0.84101	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777;ENST00000536408	.	.	.	4.81	1.56	0.23342	.	0.128668	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.5738	6.9659	0.24623	0.1512:0.6674:0.0:0.1814	.	.	.	.	X	13	.	ENSP00000324404:Q13X	Q	+	1	0	TCHP	108825251	1.000000	0.71417	0.785000	0.31869	0.035000	0.12851	2.311000	0.43717	0.480000	0.27534	0.449000	0.29647	CAG		PASS	0.607	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		20	89	20	89	---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123444664	123444664	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr12:123444664T>A	ENST00000542678.1	-	2	2957	c.119A>T	c.(118-120)cAc>cTc	p.H40L	ABCB9_ENST00000392439.3_Missense_Mutation_p.H40L|ABCB9_ENST00000540285.1_Missense_Mutation_p.H40L|ABCB9_ENST00000280560.8_Missense_Mutation_p.H40L|ABCB9_ENST00000442028.2_Missense_Mutation_p.H40L|ABCB9_ENST00000344275.7_Missense_Mutation_p.H40L|ABCB9_ENST00000346530.5_Missense_Mutation_p.H40L|ABCB9_ENST00000442833.2_Missense_Mutation_p.H40L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	40					peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.H40L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GATGTTGAAGTGGCGGATGTC	0.597																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CAC>CTC		ATP-binding cassette, sub-family B (MDR/TAP),							78.0	69.0	72.0					12																	123444664		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123444664T>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.119A>T	12.37:g.123444664T>A	ENSP00000440288:p.His40Leu					ABCB9_uc009zxr.2_Missense_Mutation_p.H40L|ABCB9_uc001udo.3_Missense_Mutation_p.H40L|ABCB9_uc010taj.1_Missense_Mutation_p.H40L|ABCB9_uc001udp.2_Missense_Mutation_p.H40L|ABCB9_uc001udq.2_5'UTR|ABCB9_uc001udr.2_Missense_Mutation_p.H40L	p.H40L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	2	429	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		40					B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.119A>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854244	0.51270	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000539502;ENST00000543935	D;D;D;D;D;D	0.89123	-2.18;-2.47;-2.36;-2.18;-2.18;-2.16	5.53	5.53	0.82687	.	0.340727	0.29417	N	0.012218	D	0.84234	0.5427	L	0.29908	0.895	0.37032	D	0.896736	B;P;B;B;B	0.42409	0.259;0.779;0.099;0.014;0.031	B;B;B;B;B	0.41036	0.034;0.346;0.047;0.02;0.021	D	0.87855	0.2660	10	0.56958	D	0.05	-30.8851	14.2406	0.65954	0.0:0.0:0.0:1.0	.	40;40;40;40;40	B4E2J0;F5GX63;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	L	40	ENSP00000280560:H40L;ENSP00000441734:H40L;ENSP00000280559:H40L;ENSP00000376234:H40L;ENSP00000440288:H40L;ENSP00000394898:H40L	ENSP00000280560:H40L	H	-	2	0	ABCB9	122010617	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.471000	0.53107	2.124000	0.65301	0.459000	0.35465	CAC		PASS	0.597	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		24	106	24	106	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26343289	26343289	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr13:26343289G>T	ENST00000381655.2	+	26	2632	c.2490G>T	c.(2488-2490)caG>caT	p.Q830H	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.Q790H	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	790					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.Q830H(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)		GGATGATCCAGACAGCCCACG	0.592																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2488-2490)CAG>CAT		ATPase, aminophospholipid transporter-like,							99.0	108.0	105.0					13																	26343289		2160	4248	6408	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.chr13:26343289G>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.2490G>T	13.37:g.26343289G>T	ENSP00000371070:p.Gln830His					ATP8A2_uc010tdi.1_Missense_Mutation_p.Q790H|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.Q380H	p.Q830H	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2632	+		Breast(139;0.0201)|Lung SC(185;0.0225)	790			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2490G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696996	0.68386	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.83591	-1.74;-1.74	6.17	3.52	0.40303	HAD-like domain (2);	0.246510	0.41194	N	0.000922	D	0.93648	0.7971	H	0.98089	4.145	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	D	0.93023	0.6442	10	0.87932	D	0	.	9.9081	0.41388	0.1246:0.1153:0.76:0.0	.	790;610;790	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	H	830;790;610	ENSP00000371070:Q830H;ENSP00000255283:Q790H	ENSP00000255283:Q790H	Q	+	3	2	ATP8A2	25241289	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	3.013000	0.49582	0.482000	0.27582	-0.176000	0.13171	CAG		PASS	0.592	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		5	185	5	185	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704002	33704002	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr13:33704002G>T	ENST00000336934.5	-	5	928	c.812C>A	c.(811-813)gCc>gAc	p.A271D	STARD13_ENST00000399365.3_Missense_Mutation_p.A153D|STARD13_ENST00000255486.4_Missense_Mutation_p.A263D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	271					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.A271D(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCTCCCGTGGGCTCCCTTCCC	0.577																																						uc001uuw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(811-813)GCC>GAC		StAR-related lipid transfer (START) domain							85.0	80.0	82.0					13																	33704002		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704002G>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.812C>A	13.37:g.33704002G>T	ENSP00000338785:p.Ala271Asp					STARD13_uc001uuu.2_Missense_Mutation_p.A263D|STARD13_uc001uuv.2_Missense_Mutation_p.A153D|STARD13_uc001uux.2_Missense_Mutation_p.A236D|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.A256D	p.A271D	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	938	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	271					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.812C>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827102	0.16749	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.05996	3.37;3.36;3.37	6.07	2.32	0.28847	.	0.387197	0.30473	N	0.009546	T	0.06735	0.0172	L	0.40543	1.245	0.20196	N	0.999927	B;B;B;B	0.29552	0.248;0.12;0.073;0.169	B;B;B;B	0.32211	0.142;0.062;0.017;0.062	T	0.24941	-1.0146	10	0.62326	D	0.03	.	9.8227	0.40891	0.2055:0.1192:0.6753:0.0	.	263;236;271;263	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	D	153;263;271;263	ENSP00000382300:A153D;ENSP00000255486:A263D;ENSP00000338785:A271D	ENSP00000255486:A263D	A	-	2	0	STARD13	32602002	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	1.233000	0.32648	0.149000	0.19098	0.655000	0.94253	GCC		PASS	0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		73	134	73	134	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60566683	60566683	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr13:60566683G>A	ENST00000400324.4	-	10	1269	c.1049C>T	c.(1048-1050)aCa>aTa	p.T350I	DIAPH3_ENST00000400319.1_Missense_Mutation_p.T280I|DIAPH3_ENST00000400320.1_Missense_Mutation_p.T304I|DIAPH3_ENST00000377908.2_Missense_Mutation_p.T339I|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.T350I|DIAPH3_ENST00000267215.4_Missense_Mutation_p.T350I	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	350	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T350I(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATCAGGAGATGTAACCAGGGC	0.403																																						uc001vht.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1048-1050)ACA>ATA		diaphanous homolog 3 isoform a							67.0	62.0	63.0					13																	60566683		1901	4134	6035	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60566683G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1049C>T	13.37:g.60566683G>A	ENSP00000383178:p.Thr350Ile					DIAPH3_uc001vhu.2_Missense_Mutation_p.T87I|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.T339I|DIAPH3_uc010aed.1_Missense_Mutation_p.T304I|DIAPH3_uc010aee.1_Missense_Mutation_p.T280I	p.T350I	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	10	1268	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	350			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1049C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670510	0.88348	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.8	5.8	0.92144	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	L	0.53561	1.675	0.50171	D	0.999855	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.996	D	0.90113	0.4193	10	0.87932	D	0	.	20.0465	0.97608	0.0:0.0:1.0:0.0	.	280;304;339;87;350	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	I	350;350;339;304;280;339;280;304;350;87;350	ENSP00000383178:T350I;ENSP00000383184:T350I;ENSP00000367141:T339I;ENSP00000383173:T280I;ENSP00000383174:T304I;ENSP00000267215:T350I	ENSP00000267214:T87I	T	-	2	0	DIAPH3	59464684	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.735000	0.93741	0.557000	0.71058	ACA		PASS	0.403	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	67	9	67	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612368	20612368	+	Silent	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:20612368A>T	ENST00000333629.1	+	1	474	c.474A>T	c.(472-474)gtA>gtT	p.V158V	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V158V(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATTCCATTGTACAAGTAGCCC	0.488																																						uc010tla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)GTA>GTT		olfactory receptor, family 4, subfamily N,							138.0	133.0	135.0					14																	20612368		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612368A>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.474A>T	14.37:g.20612368A>T							p.V158V	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	474	+	all_cancers(95;0.00108)		158			Helical; Name=4; (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.474A>T	CCDS32031.1																																																																																				PASS	0.488	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			115	262	115	262	---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20665821	20665821	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:20665821A>G	ENST00000357366.3	+	1	327	c.327A>G	c.(325-327)atA>atG	p.I109M		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I109M(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTGGAGATATGTTATGTCA	0.522																																						uc010tlb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(325-327)ATA>ATG		olfactory receptor, family 11, subfamily G,							98.0	80.0	86.0					14																	20665821		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665821A>G		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.327A>G	14.37:g.20665821A>G	ENSP00000349930:p.Ile109Met						p.I109M	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	327	+	all_cancers(95;0.00108)		109			Helical; Name=2; (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.327A>G	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	N	20.6	4.017941	0.75275	.	.	ENSG00000196832	ENST00000357366	D	0.89875	-2.58	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000461	D	0.87370	0.6160	L	0.60904	1.88	0.23978	N	0.996282	P	0.51933	0.949	P	0.46885	0.53	T	0.80625	-0.1299	10	0.51188	T	0.08	.	8.2942	0.31976	0.1605:0.5499:0.2896:0.0	.	109	Q8NGC1	O11G2_HUMAN	M	109	ENSP00000349930:I109M	ENSP00000349930:I109M	I	+	3	3	OR11G2	19735661	0.507000	0.26146	1.000000	0.80357	0.934000	0.57294	0.402000	0.20965	1.195000	0.43115	-0.127000	0.14921	ATA		PASS	0.522	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			44	94	44	94	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360032	21360032	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:21360032C>A	ENST00000304639.3	+	2	245	c.187C>A	c.(187-189)Cgt>Agt	p.R63S		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	63	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.R63S(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TTATCGATGGCGTTGCAAAAA	0.438																																						uc001vyj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)CGT>AGT		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						123.0	126.0	125.0					14																	21360032		2191	4300	6491	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360032C>A	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.187C>A	14.37:g.21360032C>A	ENSP00000302324:p.Arg63Ser						p.R63S	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	241	+	all_cancers(95;0.00453)		63					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.187C>A	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	c	9.890	1.204005	0.22205	.	.	ENSG00000169397	ENST00000304639	T	0.73258	-0.73	2.44	-4.89	0.03103	Ribonuclease A, domain (4);	3.170440	0.02219	U	0.063891	T	0.67135	0.2861	L	0.58583	1.82	0.09310	N	1	P	0.42961	0.795	P	0.46825	0.528	T	0.60777	-0.7196	10	0.59425	D	0.04	.	0.189	0.00132	0.2813:0.2204:0.151:0.3473	.	63	P12724	ECP_HUMAN	S	63	ENSP00000302324:R63S	ENSP00000302324:R63S	R	+	1	0	RNASE3	20429872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.539000	0.00937	-2.243000	0.00707	-0.652000	0.03908	CGT		PASS	0.438	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		126	145	126	145	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21960829	21960829	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:21960829G>A	ENST00000405508.1	+	8	1330	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	TOX4_ENST00000448790.2_Missense_Mutation_p.A329T|TOX4_ENST00000262709.3_Missense_Mutation_p.A352T			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	352						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A352T(2)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATCCTATGTGGCAAACCAGGC	0.488																																						uc001waz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1054-1056)GCA>ACA		epidermal Langerhans cell protein LCP1							111.0	115.0	114.0					14																	21960829		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960829G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1054G>A	14.37:g.21960829G>A	ENSP00000385102:p.Ala352Thr					TOX4_uc001way.2_Missense_Mutation_p.A222T|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.A329T|TOX4_uc010tlv.1_Missense_Mutation_p.A222T	p.A352T	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	7	1157	+	all_cancers(95;0.000465)		352					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1054G>A	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	5.164	0.215867	0.09810	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12569	2.67;2.67;2.67	4.89	3.99	0.46301	.	0.340046	0.31041	N	0.008361	T	0.06050	0.0157	N	0.08118	0	0.35077	D	0.763013	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	10	0.17832	T	0.49	.	8.4183	0.32685	0.0874:0.1601:0.7525:0.0	.	329;352	B4DPY8;O94842	.;TOX4_HUMAN	T	352;352;329;280	ENSP00000385102:A352T;ENSP00000262709:A352T;ENSP00000393080:A329T	ENSP00000262709:A352T	A	+	1	0	TOX4	21030669	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	0.765000	0.26546	2.703000	0.92315	0.555000	0.69702	GCA		PASS	0.488	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		5	326	5	326	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23342656	23342656	+	Splice_Site	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:23342656G>T	ENST00000359591.4	+	3	906		c.e3+1		LRP10_ENST00000546834.1_Splice_Site	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10						endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TCACCATCAGGTGAGAAGCAG	0.547																																						uc001whd.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e3+1		low density lipoprotein receptor-related protein							48.0	46.0	47.0					14																	23342656		2203	4300	6503	SO:0001630	splice_region_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23342656G>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.215+1G>T	14.37:g.23342656G>T						LRP10_uc001whe.2_5'Flank	p.R72_splice	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	3	768	+	all_cancers(95;4.69e-05)							A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Splice_Site	SNP	ENST00000359591.4	37	c.215_splice	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901401	0.52227	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2885	0.90121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRP10	22412496	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	7.376000	0.79658	2.608000	0.88229	0.563000	0.77884	.		PASS	0.547	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		Intron	36	75	36	75	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24524479	24524479	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:24524479C>A	ENST00000342740.5	+	8	719	c.565C>A	c.(565-567)Cgg>Agg	p.R189R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	189						cytoplasm (GO:0005737)		p.R189R(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGAAGATAACCGGGAGTTCAA	0.552																																						uc001wlj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(565-567)CGG>AGG		leucine rich repeat containing 16B							166.0	163.0	164.0					14																	24524479		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24524479C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.565C>A	14.37:g.24524479C>A							p.R189R	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	8	722	+			189					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.565C>A	CCDS32054.1																																																																																				PASS	0.552	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		42	315	42	315	---	---	---	---
CCDC175	729665	broad.mit.edu	37	14	59970688	59970688	+	IGR	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:59970688G>T	ENST00000537690.2	-	0	2616				JKAMP_ENST00000261247.9_Missense_Mutation_p.L278F|JKAMP_ENST00000554271.1_Missense_Mutation_p.L292F|JKAMP_ENST00000356057.5_Missense_Mutation_p.L286F|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.L272F	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175									p.L288F(1)|p.L286F(1)									AGCAAGATTTGCCCCTTTTGG	0.418																																						uc001xei.3																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(874-876)TTG>TTT		JNK1-associated membrane protein isoform 2							138.0	130.0	132.0					14																	59970688		1831	4082	5913	SO:0001628	intergenic_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59970688G>T		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970688G>T						JKAMP_uc001xef.3_Missense_Mutation_p.L278F|JKAMP_uc001xeh.3_Missense_Mutation_p.L272F|JKAMP_uc001xeg.3_Missense_Mutation_p.L286F|JKAMP_uc010try.1_Missense_Mutation_p.L215F|JKAMP_uc001xej.3_Missense_Mutation_p.L215F	p.L292F	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN			7	1378	+			293			Helical; (Potential).		G3V5J7	Missense_Mutation	SNP	ENST00000537690.2	37	c.876G>T	CCDS53898.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065399	0.36470	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000356057	.	.	.	5.62	-3.47	0.04753	.	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	L	0.57536	1.79	0.58432	D	0.999996	D;D;D;D;D	0.65815	0.995;0.994;0.994;0.994;0.994	D;P;P;P;P	0.66497	0.944;0.906;0.906;0.906;0.906	T	0.64807	-0.6320	9	0.11485	T	0.65	-22.6702	11.856	0.52437	0.2186:0.1096:0.6718:0.0	.	293;292;272;286;278	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	F	278;272;292;286	.	ENSP00000261247:L278F	L	+	3	2	JKAMP	59040441	0.997000	0.39634	0.948000	0.38648	0.977000	0.68977	0.327000	0.19663	-0.395000	0.07715	-0.136000	0.14681	TTG		PASS	0.418	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399		75	132	75	132	---	---	---	---
PSEN1	5663	broad.mit.edu	37	14	73659524	73659524	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:73659524C>T	ENST00000324501.5	+	7	993	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	PSEN1_ENST00000406768.1_Missense_Mutation_p.L149F|PSEN1_ENST00000394164.1_Missense_Mutation_p.L237F|PSEN1_ENST00000261970.3_Missense_Mutation_p.L241F|PSEN1_ENST00000357710.4_Missense_Mutation_p.L237F|PSEN1_ENST00000557511.1_Missense_Mutation_p.L241F|PSEN1_ENST00000344094.3_Missense_Mutation_p.L241F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	241					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.L241F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TATCAAGTACCTCCCTGAATG	0.468																																						uc001xnr.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(721-723)CTC>TTC		presenilin 1 isoform I-467							198.0	179.0	185.0					14																	73659524		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73659524C>T	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.721C>T	14.37:g.73659524C>T	ENSP00000326366:p.Leu241Phe					PSEN1_uc001xnv.2_Missense_Mutation_p.L237F|PSEN1_uc010ark.2_Missense_Mutation_p.L237F|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA	p.L241F	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	7	1005	+			241			Helical; (Potential).		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.721C>T	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182514	0.94885	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99745	-6.61;-6.61;-6.61;-6.61;-6.61;-6.61;-6.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.945;1.0	D	0.98054	1.0389	10	0.87932	D	0	-15.6705	19.824	0.96608	0.0:1.0:0.0:0.0	.	237;241	P49768-2;P49768	.;PSN1_HUMAN	F	241;237;241;241;237;241;149	ENSP00000326366:L241F;ENSP00000350342:L237F;ENSP00000261970:L241F;ENSP00000339523:L241F;ENSP00000377719:L237F;ENSP00000451429:L241F;ENSP00000385948:L149F	ENSP00000261970:L241F	L	+	1	0	PSEN1	72729277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.699000	0.92147	0.591000	0.81541	CTC		PASS	0.468	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			155	182	155	182	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74874667	74874667	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:74874667T>C	ENST00000554823.1	-	2	504	c.443A>G	c.(442-444)gAa>gGa	p.E148G	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.E148G			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	148					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E148G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTCTTCACTTTCACTCTCCGT	0.552																																						uc001xpx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GAA>GGA		transmembrane protein 90A							106.0	112.0	110.0					14																	74874667		2203	4300	6503	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874667T>C		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.443A>G	14.37:g.74874667T>C	ENSP00000450439:p.Glu148Gly						p.E148G	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	3	691	-			148						Missense_Mutation	SNP	ENST00000554823.1	37	c.443A>G	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839688	0.71488	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.96168	-3.93;-3.93	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97358	0.9968	10	0.87932	D	0	1.4246	15.1086	0.72338	0.0:0.0:0.0:1.0	.	148	A6NDD5	SYN1L_HUMAN	G	148	ENSP00000331474:E148G;ENSP00000450439:E148G	ENSP00000331474:E148G	E	-	2	0	SYNDIG1L	73944420	1.000000	0.71417	0.981000	0.43875	0.421000	0.31385	7.868000	0.87116	2.146000	0.66826	0.533000	0.62120	GAA		PASS	0.552	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		7	76	7	76	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	78710064	78710064	+	IGR	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:78710064G>T								RNA5SP388 (65800 upstream) : RP11-332E19.2 (35850 downstream)																							CTGTGAAAATGGTGGGATCTG	0.587																																						uc001xum.1																			0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10								Homo sapiens mRNA for KIAA0743 protein, partial cds.							104.0	97.0	99.0					14																	78710064		876	1991	2867	SO:0001628	intergenic_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:78710064G>T																													14.37:g.78710064G>T										Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	2		+		Renal(4;0.00876)							RNA	SNP		37	c.1421G>T		.	.	.	.	.	.	.	.	.	.	G	26.9	4.781245	0.90282	.	.	ENSG00000021645	ENST00000330071;ENST00000332068	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	T	0.77294	0.4109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73949	-0.3821	4	.	.	.	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	C	210	.	.	G	+	1	0	NRXN3	77779817	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GGT	0	PASS	0.587									45	124	45	124	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92922946	92922946	+	Missense_Mutation	SNP	G	G	A	rs138624260		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:92922946G>A	ENST00000532405.1	+	12	1475	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	SLC24A4_ENST00000298877.1_Missense_Mutation_p.V400M|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V381M|SLC24A4_ENST00000531433.1_Missense_Mutation_p.V398M|SLC24A4_ENST00000393265.2_Missense_Mutation_p.V353M			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	417					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V400M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCCTTCTCCGTGCCGGGTGA	0.622											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	1	0.000199681	0.0	0.0014	5008	,	,		16919	0.0		0.0	False		,,,				2504	0.0				NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1198-1200)GTG>ATG		solute carrier family 24 member 4 isoform 1		A	MET/VAL,MET/VAL,MET/VAL	3,4401		0,3,2199	21.0	24.0	23.0		1249,1192,1057	-5.6	0.3	14	dbSNP_134	23	0,8594		0,0,4297	no	missense,missense,missense	SLC24A4	NM_153646.3,NM_153647.3,NM_153648.3	21,21,21	0,3,6496	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	417/623,398/604,353/559	92922946	3,12995	2202	4297	6499	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92922946G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1249G>A	14.37:g.92922946G>A	ENSP00000431840:p.Val417Met		OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1293	SLC24A4_uc001yai.2_Missense_Mutation_p.V353M|SLC24A4_uc010twm.1_Missense_Mutation_p.V398M|SLC24A4_uc001yaj.2_Missense_Mutation_p.V381M|SLC24A4_uc010auj.2_Missense_Mutation_p.V289M|SLC24A4_uc010twn.1_Missense_Mutation_p.V173M|SLC24A4_uc001yan.2_Missense_Mutation_p.V111M	p.V400M	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	12	1222	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	417			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1198G>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.870|4.870	0.161636|0.161636	0.09287|0.09287	6.81E-4|6.81E-4	0.0|0.0	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	.|T;T;T;T;T	.|0.69175	.|-0.37;0.04;0.05;-0.36;-0.38	4.68|4.68	-5.56|-5.56	0.02529|0.02529	.|.	.|1.101510	.|0.06709	.|N	.|0.772724	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.11255|0.11255	0.115|0.115	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17038	.|0.006;0.02;0.003	.|B;B;B	.|0.13407	.|0.009;0.003;0.002	T|T	0.20140|0.20140	-1.0284|-1.0284	5|10	.|0.33141	.|T	.|0.24	.|.	6.4623|6.4623	0.21964|0.21964	0.5369:0.2276:0.2356:0.0|0.5369:0.2276:0.2356:0.0	.|.	.|398;353;417	.|Q8NFF2-3;Q8NFF2-2;Q8NFF2	.|.;.;NCKX4_HUMAN	H|M	282|353;398;417;400;381;269	.|ENSP00000376948:V353M;ENSP00000433302:V398M;ENSP00000431840:V417M;ENSP00000298877:V400M;ENSP00000337789:V381M	.|ENSP00000298877:V400M	R|V	+|+	2|1	0|0	SLC24A4|SLC24A4	91992699|91992699	0.104000|0.104000	0.21937|0.21937	0.330000|0.330000	0.25442|0.25442	0.023000|0.023000	0.10783|0.10783	-0.703000|-0.703000	0.05063|0.05063	-1.729000|-1.729000	0.01364|0.01364	-1.390000|-1.390000	0.01156|0.01156	CGT|GTG		PASS	0.622	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		27	47	27	47	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105406002	105406002	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr14:105406002G>T	ENST00000333244.5	-	7	15905	c.15786C>A	c.(15784-15786)agC>agA	p.S5262R	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S260R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5262						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S5262R(1)|p.S232R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGATGATTTGCTCTCAGAAG	0.502																																						uc010axc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(15784-15786)AGC>AGA		AHNAK nucleoprotein 2							146.0	156.0	153.0					14																	105406002		2055	4206	6261	SO:0001583	missense	113146					nucleus		g.chr14:105406002G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15786C>A	14.37:g.105406002G>T	ENSP00000353114:p.Ser5262Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.S5162R	p.S5262R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15906	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5262					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15786C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	2.200	-0.383324	0.04966	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03124	4.04;5.37	4.89	-5.4	0.02656	.	0.788437	0.10392	N	0.680248	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47611	-0.9104	10	0.15952	T	0.53	.	4.7059	0.12849	0.3257:0.0:0.282:0.3923	.	5262	Q8IVF2	AHNK2_HUMAN	R	260;5262	ENSP00000450998:S260R;ENSP00000353114:S5262R	ENSP00000353114:S5262R	S	-	3	2	AHNAK2	104477047	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.793000	0.04589	-0.967000	0.03582	-0.983000	0.02560	AGC		PASS	0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		153	291	153	291	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25940142	25940142	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:25940142C>T	ENST00000356865.6	-	14	3023	c.2912G>A	c.(2911-2913)aGc>aAc	p.S971N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	971					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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.S971N(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCACGAGGCTGGGTCTGCG	0.602																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2911-2913)AGC>AAC		ATPase, class V, type 10A							103.0	97.0	99.0					15																	25940142		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940142C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2912G>A	15.37:g.25940142C>T	ENSP00000349325:p.Ser971Asn						p.S971N	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3018	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	971			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2912G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026663	0.54683	.	.	ENSG00000206190	ENST00000356865	D	0.82984	-1.67	5.31	5.31	0.75309	HAD-like domain (1);	0.218784	0.56097	D	0.000031	D	0.82309	0.5009	L	0.52823	1.66	0.51012	D	0.9999	B	0.20550	0.046	B	0.24848	0.056	T	0.79619	-0.1728	10	0.72032	D	0.01	-20.4012	18.9685	0.92706	0.0:1.0:0.0:0.0	.	971	O60312	AT10A_HUMAN	N	971	ENSP00000349325:S971N	ENSP00000349325:S971N	S	-	2	0	ATP10A	23491235	1.000000	0.71417	0.895000	0.35142	0.386000	0.30323	7.218000	0.77991	2.490000	0.84030	0.563000	0.77884	AGC		PASS	0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		44	87	44	87	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28377918	28377918	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:28377918C>T	ENST00000261609.7	-	80	12397	c.12289G>A	c.(12289-12291)Gct>Act	p.A4097T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.A4097T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGCCAGCAGCAACATCGACC	0.557																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(12289-12291)GCT>ACT		hect domain and RLD 2							78.0	86.0	83.0					15																	28377918		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28377918C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12289G>A	15.37:g.28377918C>T	ENSP00000261609:p.Ala4097Thr						p.A4097T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	80	12395	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4097			RCC1 15.			Missense_Mutation	SNP	ENST00000261609.7	37	c.12289G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617113	0.96649	.	.	ENSG00000128731	ENST00000261609	D	0.87809	-2.3	4.86	4.86	0.63082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.056193	0.64402	D	0.000002	D	0.93396	0.7894	M	0.77712	2.385	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94240	0.7484	10	0.87932	D	0	.	18.3848	0.90463	0.0:1.0:0.0:0.0	.	4097	O95714	HERC2_HUMAN	T	4097	ENSP00000261609:A4097T	ENSP00000261609:A4097T	A	-	1	0	HERC2	26051513	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.765000	0.85310	2.418000	0.82041	0.555000	0.69702	GCT		PASS	0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	192	7	192	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48058151	48058151	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:48058151A>G	ENST00000316364.5	+	14	1952	c.1513A>G	c.(1513-1515)Agc>Ggc	p.S505G	SEMA6D_ENST00000389433.2_Missense_Mutation_p.S505G|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S505G|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S505G|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S505G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S505G|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S505G|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S505G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S505G|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S505G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S505G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	505	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S505G(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCGTTCTCTAGCTGCATTAT	0.438																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(1513-1515)AGC>GGC		semaphorin 6D isoform 4 precursor							240.0	213.0	222.0					15																	48058151		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058151A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1513A>G	15.37:g.48058151A>G	ENSP00000324857:p.Ser505Gly					SEMA6D_uc001zvw.2_Missense_Mutation_p.S505G|SEMA6D_uc001zvy.2_Missense_Mutation_p.S505G|SEMA6D_uc001zvz.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwa.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwb.2_Missense_Mutation_p.S505G|SEMA6D_uc001zwc.2_Missense_Mutation_p.S505G	p.S505G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1873	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	505			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1513A>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	5.095	0.203219	0.09704	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.88	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.111999	0.85682	N	0.000000	T	0.15782	0.0380	N	0.21097	0.63	0.54753	D	0.999988	B;B;B;B;B	0.25609	0.13;0.001;0.005;0.002;0.13	B;B;B;B;B	0.28638	0.092;0.005;0.021;0.005;0.092	T	0.07947	-1.0746	10	0.22706	T	0.39	.	8.2919	0.31963	0.7889:0.0:0.2111:0.0	.	505;505;505;505;505	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	G	505	ENSP00000442040:S505G;ENSP00000446152:S505G;ENSP00000324857:S505G;ENSP00000374084:S505G;ENSP00000374083:S505G;ENSP00000346786:S505G;ENSP00000350770:S505G;ENSP00000374079:S505G;ENSP00000348276:S505G	ENSP00000324857:S505G	S	+	1	0	SEMA6D	45845443	1.000000	0.71417	0.993000	0.49108	0.536000	0.34869	4.504000	0.60414	1.045000	0.40225	-0.297000	0.09499	AGC		PASS	0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		73	141	73	141	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50904852	50904852	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:50904852T>C	ENST00000313478.7	-	16	2226	c.1945A>G	c.(1945-1947)Atg>Gtg	p.M649V	TRPM7_ENST00000560955.1_Missense_Mutation_p.M649V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	649					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.M649V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GCTTTAGCCATTGATTCTTCA	0.403																																						uc001zyt.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(1945-1947)ATG>GTG		transient receptor potential cation channel,							166.0	154.0	158.0					15																	50904852		1888	4119	6007	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50904852T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1945A>G	15.37:g.50904852T>C	ENSP00000320239:p.Met649Val					TRPM7_uc010bew.1_Missense_Mutation_p.M649V|TRPM7_uc001zyu.2_Missense_Mutation_p.M207V	p.M649V	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	16	2209	-			649			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1945A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011374	0.75046	.	.	ENSG00000092439	ENST00000313478	T	0.57752	0.38	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	L	0.39397	1.21	0.53688	D	0.999978	D	0.54964	0.969	D	0.63381	0.914	T	0.66085	-0.6011	10	0.72032	D	0.01	-11.0409	15.4133	0.74943	0.0:0.0:0.0:1.0	.	649	Q96QT4	TRPM7_HUMAN	V	649	ENSP00000320239:M649V	ENSP00000320239:M649V	M	-	1	0	TRPM7	48692144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.054000	0.71096	2.104000	0.64026	0.477000	0.44152	ATG		PASS	0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		74	112	74	112	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307273	54307273	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:54307273G>A	ENST00000260323.11	+	1	2173	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	UNC13C_ENST00000545554.1_Missense_Mutation_p.G725S|UNC13C_ENST00000537900.1_Missense_Mutation_p.G725S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	725					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G725S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCCATGCCCTGGCTTGGATAA	0.418																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(2173-2175)GGC>AGC		unc-13 homolog C							32.0	31.0	31.0					15																	54307273		1878	4117	5995	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307273G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2173G>A	15.37:g.54307273G>A	ENSP00000260323:p.Gly725Ser						p.G725S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2173	+			725					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2173G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771148	0.49680	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79247	-1.25;-1.25;-1.25	5.79	5.79	0.91817	.	.	.	.	.	D	0.82342	0.5016	L	0.27053	0.805	0.37254	D	0.906678	D	0.89917	1.0	D	0.87578	0.998	D	0.84100	0.0395	9	0.46703	T	0.11	.	18.6037	0.91259	0.0:0.0:1.0:0.0	.	725	Q8NB66	UN13C_HUMAN	S	725	ENSP00000260323:G725S;ENSP00000438156:G725S;ENSP00000442569:G725S	ENSP00000260323:G725S	G	+	1	0	UNC13C	52094565	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.774000	0.75012	2.737000	0.93849	0.650000	0.86243	GGC		PASS	0.418	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		22	30	22	30	---	---	---	---
RPL4	6124	broad.mit.edu	37	15	66793358	66793358	+	Silent	SNP	T	T	C	rs143921047	byFrequency	TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:66793358T>C	ENST00000307961.6	-	7	854	c.762A>G	c.(760-762)gaA>gaG	p.E254E	SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA|RPL4_ENST00000568588.1_Silent_p.E160E	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	254					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E254E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GGAAAGCACTTTCAGTCCAAA	0.423																																						uc002apv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)GAA>GAG		ribosomal protein L4							72.0	70.0	71.0					15																	66793358		2201	4299	6500	SO:0001819	synonymous_variant	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793358T>C	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.762A>G	15.37:g.66793358T>C						RPL4_uc010bhr.2_Silent_p.E160E|RPL4_uc002apw.2_Silent_p.E160E|RPL4_uc002apx.2_Silent_p.E160E|RPL4_uc010ujq.1_3'UTR	p.E254E	NM_000968	NP_000959	P36578	RL4_HUMAN			7	818	-			254					A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	ENST00000307961.6	37	c.762A>G	CCDS10218.1																																																																																				PASS	0.423	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		59	129	59	129	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058102	79058102	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:79058102T>C	ENST00000388820.4	-	19	4361	c.4151A>G	c.(4150-4152)aAc>aGc	p.N1384S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1384					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1384S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCTGTGGCTGTTGGCGGGGCT	0.692																																						uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(4150-4152)AAC>AGC		ADAM metallopeptidase with thrombospondin type 1							17.0	23.0	21.0					15																	79058102		2136	4199	6335	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058102T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4151A>G	15.37:g.79058102T>C	ENSP00000373472:p.Asn1384Ser					ADAMTS7_uc010und.1_3'UTR	p.N1384S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	4362	-			1384					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4151A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	4.588	0.109269	0.08780	.	.	ENSG00000136378	ENST00000388820	T	0.58358	0.34	3.85	1.23	0.21249	.	1.496600	0.03565	N	0.227608	T	0.37046	0.0989	L	0.32530	0.975	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.09684	-1.0663	10	0.08599	T	0.76	.	3.5771	0.07938	0.0:0.2663:0.1955:0.5382	.	1384	Q9UKP4	ATS7_HUMAN	S	1384	ENSP00000373472:N1384S	ENSP00000373472:N1384S	N	-	2	0	ADAMTS7	76845157	0.000000	0.05858	0.132000	0.22025	0.018000	0.09664	0.009000	0.13219	0.032000	0.15435	-0.444000	0.05651	AAC		PASS	0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	61	3	61	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89401084	89401084	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:89401084C>T	ENST00000561243.1	+	11	5268	c.5268C>T	c.(5266-5268)agC>agT	p.S1756S	ACAN_ENST00000559004.1_Silent_p.S1756S|ACAN_ENST00000439576.2_Silent_p.S1756S|ACAN_ENST00000352105.7_Silent_p.S1756S			P16112	PGCA_HUMAN	aggrecan	1780	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S1642S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAGCTTAGCGGGCTGTCCT	0.493																																						uc010upo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5266-5268)AGC>AGT		aggrecan isoform 2 precursor							72.0	74.0	73.0					15																	89401084		1913	4117	6030	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401084C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5268C>T	15.37:g.89401084C>T						ACAN_uc010upp.1_Silent_p.S1756S|ACAN_uc002bna.2_RNA	p.S1756S	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5642	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1756					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.5268C>T	CCDS53970.1																																																																																				PASS	0.493	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	213	8	213	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90347586	90347586	+	Silent	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr15:90347586C>T	ENST00000300060.6	-	6	1390	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	359	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.L359L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GGTAGGTCACCAGTCCCCAGT	0.627																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1075-1077)CTG>CTA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						58.0	60.0	59.0					15																	90347586		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90347586C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1077G>A	15.37:g.90347586C>T							p.L359L	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		6	1369	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		359			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.1077G>A	CCDS10356.1																																																																																				PASS	0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			65	89	65	89	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1391391	1391391	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr16:1391391A>C	ENST00000324385.5	+	8	895	c.737A>C	c.(736-738)aAg>aCg	p.K246T	BAIAP3_ENST00000397488.2_Missense_Mutation_p.K228T|BAIAP3_ENST00000397489.1_Missense_Mutation_p.K228T|BAIAP3_ENST00000562208.1_Missense_Mutation_p.K188T|BAIAP3_ENST00000568887.1_Missense_Mutation_p.K183T|BAIAP3_ENST00000421665.2_Missense_Mutation_p.K211T|BAIAP3_ENST00000426824.3_Missense_Mutation_p.K211T	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	246	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.K246T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGCTTCCGCAAGGGCAGCAAG	0.657																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(736-738)AAG>ACG		BAI1-associated protein 3							51.0	47.0	48.0					16																	1391391		2196	4295	6491	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1391391A>C	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.737A>C	16.37:g.1391391A>C	ENSP00000324510:p.Lys246Thr					BAIAP3_uc002clj.2_Missense_Mutation_p.K228T|BAIAP3_uc010uuz.1_Missense_Mutation_p.K211T|BAIAP3_uc010uva.1_Missense_Mutation_p.K183T|BAIAP3_uc010uvb.1_Missense_Mutation_p.K263T|BAIAP3_uc010uvc.1_Missense_Mutation_p.K211T	p.K246T	NM_003933	NP_003924	O94812	BAIP3_HUMAN			8	737	+		Hepatocellular(780;0.0893)	246			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.737A>C	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831830	0.50845	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.74947	-0.8;-0.8;-0.8;-0.8;-0.89	4.72	4.72	0.59763	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;1.0;1.0	T	0.79257	-0.1878	10	0.23302	T	0.38	-35.4146	12.1789	0.54202	1.0:0.0:0.0:0.0	.	211;263;188;246;228	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	T	211;228;246;228;211	ENSP00000407242:K211T;ENSP00000380625:K228T;ENSP00000324510:K246T;ENSP00000380626:K228T;ENSP00000409533:K211T	ENSP00000324510:K246T	K	+	2	0	BAIAP3	1331392	1.000000	0.71417	0.839000	0.33178	0.080000	0.17528	3.393000	0.52544	1.973000	0.57446	0.260000	0.18958	AAG		PASS	0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			50	78	50	78	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49557637	49557637	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr16:49557637G>T	ENST00000561648.1	-	7	3776	c.3723C>A	c.(3721-3723)gcC>gcA	p.A1241A	ZNF423_ENST00000562520.1_Silent_p.A1181A|ZNF423_ENST00000562871.1_Silent_p.A1181A|ZNF423_ENST00000567169.1_Silent_p.A1124A|ZNF423_ENST00000563137.2_Silent_p.A1181A|ZNF423_ENST00000262383.2_Silent_p.A1241A|ZNF423_ENST00000535559.1_Silent_p.A1124A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1241					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A1241A(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCAACTTGTTGGCCTGGACGA	0.602																																						uc002efs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3721-3723)GCC>GCA		zinc finger protein 423							138.0	96.0	110.0					16																	49557637		2199	4300	6499	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49557637G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3723C>A	16.37:g.49557637G>T						ZNF423_uc010vgn.1_Silent_p.A1124A	p.A1241A	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			8	4021	-		all_cancers(37;0.0155)	1241			C2H2-type 29.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.3723C>A	CCDS32445.1																																																																																				PASS	0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		8	54	8	54	---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3417227	3417227	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:3417227G>A	ENST00000576742.1	-	18	2678	c.2357C>T	c.(2356-2358)cCg>cTg	p.P786L	SPATA22_ENST00000541913.1_5'Flank|TRPV3_ENST00000301365.4_Missense_Mutation_p.P787L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	786					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.P786L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGAGGTTTCCGGGAATTCCTC	0.488																																						uc002fvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2356-2358)CCG>CTG		transient receptor potential cation channel,	Menthol(DB00825)						119.0	108.0	112.0					17																	3417227		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3417227G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2357C>T	17.37:g.3417227G>A	ENSP00000461518:p.Pro786Leu					SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.P770L|TRPV3_uc010vri.1_Missense_Mutation_p.P741L|TRPV3_uc010vrj.1_Missense_Mutation_p.P770L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.P771L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.P787L	p.P786L	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			18	2679	-			786			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2357C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.683558	0.29872	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000003	T	0.68348	0.2991	L	0.36672	1.1	0.80722	D	1	D;B;B;B;B;P	0.89917	1.0;0.017;0.42;0.017;0.22;0.555	D;B;B;B;B;B	0.87578	0.998;0.003;0.036;0.003;0.024;0.078	T	0.70916	-0.4742	9	0.87932	D	0	-12.0405	16.4417	0.83903	0.0:0.0:1.0:0.0	.	771;771;787;770;786;787	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8;Q8NET8-2	.;.;.;.;TRPV3_HUMAN;.	L	787;786;771	.	ENSP00000301365:P786L	P	-	2	0	TRPV3	3363977	0.996000	0.38824	0.997000	0.53966	0.016000	0.09150	2.489000	0.45285	2.640000	0.89533	0.655000	0.94253	CCG		PASS	0.488	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		69	96	69	96	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L	p.R273L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	37	23	37	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:7578469C>A	ENST00000269305.4	-	5	650	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000420246.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	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	154	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GACGCGGGTGCCGGGCGGGGG	0.607		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		98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	p.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(1)	lung(34)|stomach(8)|oesophagus(8)|skin(7)|liver(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|breast(4)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|pancreas(2)|thyroid(1)|soft_tissue(1)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(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	CM951223	TP53	M		c.(460-462)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578469		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578469C>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.461G>T	17.37:g.7578469C>A	ENSP00000269305:p.Gly154Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G154V|TP53_uc002gih.2_Missense_Mutation_p.G154V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G22V|TP53_uc010cng.1_Missense_Mutation_p.G22V|TP53_uc002gii.1_Missense_Mutation_p.G22V|TP53_uc010cnh.1_Missense_Mutation_p.G154V|TP53_uc010cni.1_Missense_Mutation_p.G154V|TP53_uc002gij.2_Missense_Mutation_p.G154V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G61V|TP53_uc002gio.2_Missense_Mutation_p.G22V|TP53_uc010vug.1_Missense_Mutation_p.G115V	p.G154V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	655	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	154		G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.461G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456171	0.43634	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.59	3.61	0.41365	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.158634	0.56097	D	0.000036	D	0.99859	0.9934	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.991;0.998;0.999;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.987;0.984;0.848;0.983;0.992;0.988;0.988	D	0.97051	0.9764	10	0.87932	D	0	-10.7989	10.689	0.45860	0.0:0.8432:0.0:0.1568	.	115;154;154;61;154;154;154	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	154;154;154;154;154;154;143;61;22;61;22;154	ENSP00000410739:G154V;ENSP00000352610:G154V;ENSP00000269305:G154V;ENSP00000398846:G154V;ENSP00000391127:G154V;ENSP00000391478:G154V;ENSP00000425104:G22V;ENSP00000423862:G61V;ENSP00000424104:G154V	ENSP00000269305:G154V	G	-	2	0	TP53	7519194	0.990000	0.36364	0.002000	0.10522	0.006000	0.05464	4.029000	0.57253	0.850000	0.35239	-0.140000	0.14226	GGC		PASS	0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	76	55	76	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9823009	9823009	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:9823009C>T	ENST00000432992.2	-	12	1312	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	GAS7_ENST00000542249.1_Missense_Mutation_p.M320I|GAS7_ENST00000585266.1_Missense_Mutation_p.M324I|GAS7_ENST00000579158.1_Missense_Mutation_p.M320I|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.M324I|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.M320I|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.M244I	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	384					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M384I(1)|p.M244I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCACACAGCGCATGAGGTCGT	0.547			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Missense(2)		lung(2)	lung(1)|pancreas(1)	2						c.(1150-1152)ATG>ATA		growth arrest-specific 7 isoform c							211.0	182.0	192.0					17																	9823009		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9823009C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1152G>A	17.37:g.9823009C>T	ENSP00000407552:p.Met384Ile					GAS7_uc010vvc.1_Missense_Mutation_p.M198I|GAS7_uc002gmh.1_Missense_Mutation_p.M244I|GAS7_uc010vvd.1_Missense_Mutation_p.M336I|GAS7_uc002gmi.2_Missense_Mutation_p.M320I|GAS7_uc002gmj.1_Missense_Mutation_p.M324I|GAS7_uc010coh.1_Missense_Mutation_p.M324I	p.M384I	NM_201433	NP_958839	O60861	GAS7_HUMAN			12	1313	-			384			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.1152G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306094	0.40795	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000542249;ENST00000541114	T	0.39997	1.05	4.69	4.69	0.59074	.	0.091659	0.64402	D	0.000001	T	0.29093	0.0723	N	0.19112	0.55	0.51767	D	0.999939	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.06391	-1.0829	9	.	.	.	-6.9958	16.5423	0.84405	0.0:1.0:0.0:0.0	.	336;324;244;384	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	I	384;324;323;244;324;33;198	ENSP00000379421:M324I	.	M	-	3	0	GAS7	9763734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.680000	0.61656	2.446000	0.82766	0.655000	0.94253	ATG		PASS	0.547	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		20	141	20	141	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10433387	10433387	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:10433387G>T	ENST00000245503.5	-	23	3086	c.2702C>A	c.(2701-2703)gCc>gAc	p.A901D	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A901D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	901					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.A901D(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						CAAGCCTTCGGCTTCCTTAAG	0.398																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2701-2703)GCC>GAC		myosin heavy chain IIa							122.0	119.0	120.0					17																	10433387		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.chr17:10433387G>T		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.2702C>A	17.37:g.10433387G>T	ENSP00000245503:p.Ala901Asp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A901D|MYH2_uc010coj.2_Intron	p.A901D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			23	2830	-			901			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2702C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476074	0.26511	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.94537	-3.45;-3.45	5.15	5.15	0.70609	.	0.000000	0.39020	U	0.001494	D	0.92192	0.7524	L	0.35854	1.095	0.36374	D	0.86151	B	0.23591	0.088	B	0.28991	0.097	D	0.91249	0.5028	10	0.51188	T	0.08	.	18.795	0.91990	0.0:0.0:1.0:0.0	.	901	Q9UKX2	MYH2_HUMAN	D	901	ENSP00000245503:A901D;ENSP00000380367:A901D	ENSP00000245503:A901D	A	-	2	0	MYH2	10374112	0.010000	0.17322	1.000000	0.80357	0.840000	0.47671	0.449000	0.21744	2.661000	0.90470	0.591000	0.81541	GCC		PASS	0.398	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		121	155	121	155	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11583141	11583141	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:11583141G>A	ENST00000262442.4	+	18	3489	c.3421G>A	c.(3421-3423)Gat>Aat	p.D1141N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1141N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1141	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D1141N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAAAGGAGATTTCCAAGG	0.423																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3421-3423)GAT>AAT		dynein, axonemal, heavy chain 9 isoform 2							156.0	153.0	154.0					17																	11583141		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11583141G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3421G>A	17.37:g.11583141G>A	ENSP00000262442:p.Asp1141Asn					DNAH9_uc010coo.2_Missense_Mutation_p.D435N	p.D1141N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	18	3489	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1141			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3421G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950958	0.53186	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.23754	1.89;1.89	5.31	5.31	0.75309	.	0.198616	0.41712	D	0.000831	T	0.41673	0.1169	M	0.80847	2.515	0.80722	D	1	B	0.30193	0.272	B	0.37508	0.252	T	0.41342	-0.9514	10	0.56958	D	0.05	.	18.9761	0.92736	0.0:0.0:1.0:0.0	.	1141	Q9NYC9	DYH9_HUMAN	N	1141	ENSP00000262442:D1141N;ENSP00000414874:D1141N	ENSP00000262442:D1141N	D	+	1	0	DNAH9	11523866	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	5.643000	0.67895	2.510000	0.84645	0.555000	0.69702	GAT		PASS	0.423	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	168	8	168	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29556400	29556400	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:29556400C>G	ENST00000358273.4	+	21	3150	c.2767C>G	c.(2767-2769)Cta>Gta	p.L923V	NF1_ENST00000356175.3_Missense_Mutation_p.L923V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	923					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L923V(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTGGTGGGTCTAGAATTGAG	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(2767-2769)CTA>GTA		neurofibromin isoform 1							112.0	112.0	112.0					17																	29556400		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556400C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2767C>G	17.37:g.29556400C>G	ENSP00000351015:p.Leu923Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L923V|NF1_uc010csn.1_Missense_Mutation_p.L783V|NF1_uc002hgi.1_5'UTR	p.L923V	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3100	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	923					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2767C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.294697	0.40594	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.89123	-2.47;-2.47;-2.47	5.5	3.53	0.40419	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.89677	0.6784	L	0.43152	1.355	0.80722	D	1	P;D;B	0.56035	0.757;0.974;0.137	B;D;B	0.70487	0.225;0.969;0.097	D	0.84991	0.0894	10	0.16896	T	0.51	.	9.2143	0.37337	0.0:0.7154:0.0:0.2846	.	923;923;923	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	V	923;923;589	ENSP00000351015:L923V;ENSP00000348498:L923V;ENSP00000389907:L589V	ENSP00000348498:L923V	L	+	1	2	NF1	26580526	0.198000	0.23374	1.000000	0.80357	0.992000	0.81027	0.330000	0.19715	0.712000	0.32039	0.555000	0.69702	CTA		PASS	0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		118	172	118	172	---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41113248	41113248	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:41113248C>G	ENST00000427569.2	-	3	327	c.292G>C	c.(292-294)Gat>Cat	p.D98H	AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D181H|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D272H|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D211H|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D272H	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	98					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)	p.D211H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGCTCCCAATCTACCCGGACC	0.557																																						uc002icc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GAT>CAT		alanyl-tRNA synthetase domain containing 1							200.0	188.0	192.0					17																	41113248		2203	4300	6503	SO:0001583	missense	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41113248C>G	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.292G>C	17.37:g.41113248C>G	ENSP00000400870:p.Asp98His					AARSD1_uc002icd.2_Missense_Mutation_p.D211H|AARSD1_uc002ice.2_Missense_Mutation_p.D181H|AARSD1_uc002icf.2_Missense_Mutation_p.D272H|AARSD1_uc010whg.1_Missense_Mutation_p.D272H|AARSD1_uc010cyu.1_Missense_Mutation_p.D98H	p.D98H	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	295	-		Breast(137;0.00499)	98					B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.292G>C	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.227625|4.227625	0.79576|0.79576	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103|ENST00000441280;ENST00000430739	T;T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39;-1.39|.	4.18|4.18	4.18|4.18	0.49190|0.49190	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87374|.	0.6161|.	H|H	0.96175|0.96175	3.78|3.78	.|.	.|.	.|.	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.992;0.997;0.997;0.997;1.0|.	D|.	0.91972|.	0.5587|.	9|.	0.87932|.	D|.	0|.	-22.3451|-22.3451	16.6939|16.6939	0.85329|0.85329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211;272;181;229;98|.	Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6|.	.;.;.;.;AASD1_HUMAN|.	H|Y	211;272;272;98;181|103	ENSP00000353355:D211H;ENSP00000386621:D272H;ENSP00000409924:D272H;ENSP00000400870:D98H;ENSP00000386254:D181H|.	ENSP00000353355:D211H|.	D|X	-|-	1|3	0|2	AARSD1|AARSD1	38366774|38366774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.653000|0.653000	0.38743|0.38743	7.476000|7.476000	0.81055|0.81055	2.157000|2.157000	0.67596|0.67596	0.542000|0.542000	0.68232|0.68232	GAT|TAG		PASS	0.557	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		175	301	175	301	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901248	51901248	+	Missense_Mutation	SNP	A	A	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:51901248A>T	ENST00000268919.4	+	1	1010	c.854A>T	c.(853-855)cAg>cTg	p.Q285L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	285	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q285L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCACCGCCCAGCCACTGGTG	0.567																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(853-855)CAG>CTG		kinesin family member 2B							88.0	77.0	81.0					17																	51901248		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901248A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.854A>T	17.37:g.51901248A>T	ENSP00000268919:p.Gln285Leu					uc010wna.1_RNA	p.Q285L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1010	+			285			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.854A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212255	0.58452	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75050	-0.9	5.52	2.9	0.33743	Kinesin, motor domain (4);	0.275691	0.25529	N	0.030045	T	0.55924	0.1951	N	0.12920	0.275	0.26715	N	0.970889	B	0.21753	0.06	B	0.25759	0.063	T	0.51212	-0.8734	10	0.66056	D	0.02	.	7.4425	0.27192	0.6929:0.0:0.3071:0.0	.	285	Q8N4N8	KIF2B_HUMAN	L	285;173	ENSP00000268919:Q285L	ENSP00000268919:Q285L	Q	+	2	0	KIF2B	49256247	0.689000	0.27690	1.000000	0.80357	0.922000	0.55478	1.086000	0.30853	0.322000	0.23283	-0.256000	0.11100	CAG		PASS	0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		38	66	38	66	---	---	---	---
TLK2	11011	broad.mit.edu	37	17	60642414	60642414	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:60642414G>A	ENST00000326270.9	+	11	1152	c.884G>A	c.(883-885)aGa>aAa	p.R295K	TLK2_ENST00000542523.1_Missense_Mutation_p.R263K|TLK2_ENST00000346027.5_Missense_Mutation_p.R295K|TLK2_ENST00000343388.7_Missense_Mutation_p.R263K|TLK2_ENST00000582809.1_Missense_Mutation_p.R146K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	295					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R295K(2)|p.R294K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GACCGCTTGAGACTGGGCCAC	0.408																																						uc010ddp.2																			3	Substitution - Missense(3)		lung(3)	stomach(1)|kidney(1)	2						c.(883-885)AGA>AAA		tousled-like kinase 2 isoform A							121.0	101.0	108.0					17																	60642414		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60642414G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.884G>A	17.37:g.60642414G>A	ENSP00000316512:p.Arg295Lys					TLK2_uc002izx.3_Missense_Mutation_p.R143K|TLK2_uc002izz.3_Missense_Mutation_p.R295K|TLK2_uc002jaa.3_Missense_Mutation_p.R263K|TLK2_uc010wpd.1_Missense_Mutation_p.R263K	p.R295K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			11	1152	+			295					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.884G>A		.	.	.	.	.	.	.	.	.	.	G	15.72	2.916122	0.52546	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.74315	-0.59;-0.67;-0.83;-0.67	4.91	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.87180	2.865	0.53005	D	0.99996	D;D;D;D	0.89917	0.996;0.969;0.969;1.0	D;D;D;D	0.85130	0.989;0.924;0.924;0.997	D	0.89291	0.3619	10	0.87932	D	0	.	13.71	0.62663	0.0:0.0:0.8447:0.1553	.	295;263;295;295	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	K	295;263;295;263	ENSP00000275780:R295K;ENSP00000340800:R263K;ENSP00000316512:R295K;ENSP00000442311:R263K	ENSP00000316512:R295K	R	+	2	0	TLK2	57996146	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.601000	0.98297	1.279000	0.44446	0.655000	0.94253	AGA		PASS	0.408	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		74	122	74	122	---	---	---	---
CD79B	974	broad.mit.edu	37	17	62007148	62007148	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:62007148G>T	ENST00000006750.3	-	4	623	c.531C>A	c.(529-531)atC>atA	p.I177I	CD79B_ENST00000392795.3_Silent_p.I178I|CD79B_ENST00000349817.2_Silent_p.I73I	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	177					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.I177I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						GCAGCAGGAAGATAGGCACGA	0.572			"""Mis, O"""		DLBCL																																	uc002jdq.1				Dom	yes		17	17q23	974	Mis|O	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		1	Substitution - coding silent(1)		lung(1)		0						c.(529-531)ATC>ATA		CD79B antigen isoform 1 precursor							111.0	81.0	91.0					17																	62007148		2203	4300	6503	SO:0001819	synonymous_variant	974				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007148G>T	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.531C>A	17.37:g.62007148G>T						CD79B_uc002jdo.1_Silent_p.I151I|CD79B_uc002jdp.1_Silent_p.I178I|CD79B_uc002jdr.1_Silent_p.I73I	p.I177I	NM_000626	NP_000617	P40259	CD79B_HUMAN			4	614	-			177			Helical; (Potential).		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.531C>A	CCDS11655.1																																																																																				PASS	0.572	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			31	43	31	43	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71281750	71281750	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:71281750C>A	ENST00000335793.3	-	2	1284	c.890G>T	c.(889-891)cGc>cTc	p.R297L	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R227L			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	297					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.R297L(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCCCATGCTGCGGGCTGAGCC	0.711																																						uc002jjn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)CGC>CTC		Cdc42 effector protein 4							18.0	22.0	20.0					17																	71281750		2203	4293	6496	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281750C>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.890G>T	17.37:g.71281750C>A	ENSP00000338258:p.Arg297Leu					CDC42EP4_uc002jjo.2_Missense_Mutation_p.R297L|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R227L	p.R297L	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1037	-			297					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.890G>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478946	0.44044	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.35236	1.36;1.32	4.91	3.87	0.44632	.	0.517234	0.16747	N	0.201198	T	0.32285	0.0824	M	0.63428	1.95	0.80722	D	1	B;B	0.25390	0.125;0.032	B;B	0.17722	0.019;0.011	T	0.12682	-1.0538	10	0.33141	T	0.24	-21.2572	8.5704	0.33565	0.1545:0.7623:0.0:0.0832	.	227;297	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	L	297;227	ENSP00000338258:R297L;ENSP00000404270:R227L	ENSP00000338258:R297L	R	-	2	0	CDC42EP4	68793345	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.118000	0.50414	2.287000	0.76781	0.484000	0.47621	CGC		PASS	0.711	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		12	36	12	36	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76989728	76989728	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr17:76989728G>T	ENST00000302345.2	-	4	1604	c.1110C>A	c.(1108-1110)gtC>gtA	p.V370V	CANT1_ENST00000392446.5_Silent_p.V370V|CANT1_ENST00000591773.1_Silent_p.V370V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	370					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)	p.V370V(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGTAGGAGGCGACTCTGCCGC	0.567			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jwn.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate		1	Substitution - coding silent(1)		lung(1)		0						c.(1108-1110)GTC>GTA		calcium activated nucleotidase 1							106.0	86.0	93.0					17																	76989728		2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989728G>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.1110C>A	17.37:g.76989728G>T			OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	CANT1_uc002jwk.2_Silent_p.V370V|CANT1_uc002jwj.2_Silent_p.V370V|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	p.V370V	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1549	-			370			Lumenal (Potential).		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.1110C>A	CCDS11760.1																																																																																				PASS	0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		47	75	47	75	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826522	13826522	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr18:13826522C>T	ENST00000324750.3	+	1	980	c.758C>T	c.(757-759)cCg>cTg	p.P253L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	253					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.P253L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCTGGGCCCCGTTCTTCCTT	0.572																																						uc010xaf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(757-759)CCG>CTG		melanocortin 5 receptor							231.0	180.0	197.0					18																	13826522		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826522C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.758C>T	18.37:g.13826522C>T	ENSP00000318077:p.Pro253Leu						p.P253L	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	758	+			253			Helical; Name=6; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.758C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042939	0.55003	.	.	ENSG00000176136	ENST00000324750	T	0.79845	-1.31	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93939	0.8060	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	17.0064	0.86394	0.0:1.0:0.0:0.0	.	253	P33032	MC5R_HUMAN	L	253	ENSP00000318077:P253L	ENSP00000318077:P253L	P	+	2	0	MC5R	13816522	1.000000	0.71417	0.875000	0.34327	0.014000	0.08584	5.721000	0.68477	2.246000	0.74042	0.305000	0.20034	CCG		PASS	0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		13	233	13	233	---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28659823	28659823	+	Silent	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr18:28659823T>C	ENST00000280904.6	-	11	2096	c.1653A>G	c.(1651-1653)gcA>gcG	p.A551A	DSC2_ENST00000251081.6_Silent_p.A551A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	551	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A551A(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTGGTCTGATGCAAGGACTG	0.368																																						uc002kwl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1651-1653)GCA>GCG		desmocollin 2 isoform Dsc2a preproprotein							181.0	178.0	179.0					18																	28659823		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28659823T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1653A>G	18.37:g.28659823T>C						DSC2_uc002kwk.3_Silent_p.A551A	p.A551A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		11	2107	-			551			Extracellular (Potential).|Cadherin 4.			Silent	SNP	ENST00000280904.6	37	c.1653A>G	CCDS11892.1																																																																																				PASS	0.368	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		113	215	113	215	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47107935	47107935	+	Missense_Mutation	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr18:47107935G>A	ENST00000261292.4	+	6	1222	c.944G>A	c.(943-945)cGt>cAt	p.R315H	LIPG_ENST00000577628.1_Missense_Mutation_p.R351H|LIPG_ENST00000427224.2_Missense_Mutation_p.R241H|LIPG_ENST00000580036.1_Missense_Mutation_p.R315H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	315					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.R315H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CGCAAGAACCGTTGTAATAGC	0.478																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(943-945)CGT>CAT		endothelial lipase precursor							112.0	114.0	114.0					18																	47107935		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107935G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.944G>A	18.37:g.47107935G>A	ENSP00000261292:p.Arg315His					LIPG_uc002ldu.1_Missense_Mutation_p.R315H|LIPG_uc010xdh.1_Missense_Mutation_p.R241H	p.R315H	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			6	1196	+			315					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.944G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608611	0.96626	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91180	-2.8;-2.8	5.79	5.79	0.91817	Lipase, N-terminal (1);	0.000000	0.56097	U	0.000023	D	0.96346	0.8808	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96368	0.9271	10	0.72032	D	0.01	-24.2973	20.0204	0.97499	0.0:0.0:1.0:0.0	.	241;315;315	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	315;241	ENSP00000261292:R315H;ENSP00000387978:R241H	ENSP00000261292:R315H	R	+	2	0	LIPG	45361933	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.869000	0.99810	2.740000	0.93945	0.561000	0.74099	CGT		PASS	0.478	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		85	118	85	118	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50278668	50278668	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr18:50278668G>A	ENST00000442544.2	+	2	952	c.336G>A	c.(334-336)gaG>gaA	p.E112E	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	112	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.E112E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCCAGATGAGGGACTTTACC	0.443																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(334-336)GAG>GAA		netrin receptor DCC precursor							144.0	133.0	136.0					18																	50278668		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278668G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.336G>A	18.37:g.50278668G>A						DCC_uc010xdr.1_5'UTR	p.E112E	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	923	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	112			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000442544.2	37	c.336G>A	CCDS11952.1																																																																																				PASS	0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		47	109	47	109	---	---	---	---
SERPINB8	5271	broad.mit.edu	37	18	61654442	61654442	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr18:61654442C>A	ENST00000397985.2	+	7	1311	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	SERPINB8_ENST00000353706.2_Missense_Mutation_p.P352H|SERPINB8_ENST00000542677.1_Missense_Mutation_p.P170H|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	352					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P352H(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCAGACCACCCTTTTCTTTTC	0.517																																						uc002ljv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1054-1056)CCT>CAT		serine (or cysteine) proteinase inhibitor, clade							97.0	96.0	97.0					18																	61654442		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654442C>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1055C>A	18.37:g.61654442C>A	ENSP00000381072:p.Pro352His					SERPINB8_uc002lju.2_Missense_Mutation_p.P352H|SERPINB8_uc010xex.1_Missense_Mutation_p.P170H	p.P352H	NM_198833	NP_942130	P50452	SPB8_HUMAN			7	1224	+		Esophageal squamous(42;0.129)	352					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.1055C>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306841	0.81247	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.97114	-4.25;-4.25;0.27	5.65	4.78	0.61160	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98638	1.0674	10	0.87932	D	0	.	13.6634	0.62380	0.0:0.927:0.0:0.073	.	352	P50452	SPB8_HUMAN	H	352;352;170	ENSP00000381072:P352H;ENSP00000331368:P352H;ENSP00000438328:P170H	ENSP00000331368:P352H	P	+	2	0	SERPINB8	59805422	1.000000	0.71417	0.976000	0.42696	0.795000	0.44927	7.574000	0.82434	1.633000	0.50488	0.655000	0.94253	CCT		PASS	0.517	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		19	229	19	229	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602326	10602326	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:10602326C>A	ENST00000171111.5	-	3	1799	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V418L|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	418					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.V418L(1)|p.V418M(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATGACCCCCACCCCGATGCGG	0.662																																						uc002moq.1																			2	Substitution - Missense(2)	p.V418M(1)	lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1252-1254)GTG>TTG		kelch-like ECH-associated protein 1							31.0	27.0	29.0					19																	10602326		2202	4300	6502	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602326C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1252G>T	19.37:g.10602326C>A	ENSP00000171111:p.Val418Leu					KEAP1_uc002mop.1_Missense_Mutation_p.V136L|KEAP1_uc002mor.1_Missense_Mutation_p.V418L	p.V418L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1408	-			418			Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1252G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183102	0.57800	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80123	-1.34;-1.34	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.055492	0.64402	D	0.000001	T	0.77498	0.4139	L	0.48174	1.505	0.53688	D	0.999977	B	0.11235	0.004	B	0.14023	0.01	T	0.73723	-0.3893	10	0.87932	D	0	.	17.1192	0.86697	0.0:1.0:0.0:0.0	.	418	Q14145	KEAP1_HUMAN	L	418	ENSP00000171111:V418L;ENSP00000377245:V418L	ENSP00000171111:V418L	V	-	1	0	KEAP1	10463326	1.000000	0.71417	0.979000	0.43373	0.939000	0.58152	5.921000	0.70028	2.662000	0.90505	0.655000	0.94253	GTG		PASS	0.662	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	28	12	28	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14273821	14273821	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:14273821G>A	ENST00000340736.6	-	6	1104	c.807C>T	c.(805-807)gaC>gaT	p.D269D	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D264D|LPHN1_ENST00000591528.1_5'UTR	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	269	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D269D(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCACCGCCAGGTCAATGTCGG	0.617																																						uc010xnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(805-807)GAC>GAT		latrophilin 1 isoform 1 precursor							115.0	75.0	89.0					19																	14273821		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273821G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.807C>T	19.37:g.14273821G>A						LPHN1_uc010xno.1_Silent_p.D264D|uc002myf.2_Intron	p.D269D	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			6	1103	-			269			Olfactomedin-like.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.807C>T	CCDS32928.1																																																																																				PASS	0.617	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		30	42	30	42	---	---	---	---
DNAJB1	3337	broad.mit.edu	37	19	14627629	14627629	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:14627629G>A	ENST00000254322.2	-	2	511	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DNAJB1_ENST00000396969.4_Silent_p.G47G	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	147					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.G147G(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		AGCGGGAGCGGCCAAAGTTCA	0.582																																						uc002myz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)GGC>GGT		DnaJ (Hsp40) homolog, subfamily B, member 1							78.0	72.0	74.0					19																	14627629		2203	4300	6503	SO:0001819	synonymous_variant	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627629G>A	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.441C>T	19.37:g.14627629G>A						DNAJB1_uc010xnr.1_Silent_p.G47G	p.G147G	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	481	-			147					B4DX52	Silent	SNP	ENST00000254322.2	37	c.441C>T	CCDS12312.1																																																																																				PASS	0.582	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		5	203	5	203	---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20278150	20278150	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:20278150C>A	ENST00000335117.8	+	1	68	c.11C>A	c.(10-12)cCc>cAc	p.P4H	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.P4H|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P4H(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCGGGACCCCTTAGAAGC	0.592																																						uc002nou.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)CCC>CAC		zinc finger protein 486							60.0	63.0	62.0					19																	20278150		2199	4299	6498	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20278150C>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.11C>A	19.37:g.20278150C>A	ENSP00000335042:p.Pro4His						p.P4H	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			1	68	+			4					Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.11C>A	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	-	0.260	-0.999968	0.02128	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.05139	3.49	0.461	-0.922	0.10468	.	.	.	.	.	T	0.03477	0.0100	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	8	0.27785	T	0.31	.	.	.	.	.	4	Q96H40	ZN486_HUMAN	H	43;4	ENSP00000335042:P4H	ENSP00000335042:P4H	P	+	2	0	ZNF486	20139150	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	-1.556000	0.02168	-1.400000	0.02061	-1.261000	0.01458	CCC		PASS	0.592	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		17	45	17	45	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936608	30936608	+	Missense_Mutation	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:30936608C>G	ENST00000355537.3	+	2	2286	c.2139C>G	c.(2137-2139)gaC>gaG	p.D713E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	713					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.D713E(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)					CCCAGGAGGACAGCCCGCACC	0.677																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2137-2139)GAC>GAG		zinc finger protein 536							17.0	20.0	19.0					19																	30936608		2170	4224	6394	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936608C>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.2139C>G	19.37:g.30936608C>G	ENSP00000347730:p.Asp713Glu					ZNF536_uc010edd.1_Missense_Mutation_p.D713E	p.D713E	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2277	+	Esophageal squamous(110;0.0834)		713					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2139C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098992	0.56183	.	.	ENSG00000198597	ENST00000355537	T	0.09163	3.01	5.78	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	N	0.24115	0.695	0.49798	D	0.999822	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.07195	-1.0785	10	0.25106	T	0.35	-48.8381	13.9343	0.64015	0.0:0.9262:0.0:0.0738	.	713;713	A7E228;O15090	.;ZN536_HUMAN	E	713	ENSP00000347730:D713E	ENSP00000347730:D713E	D	+	3	2	ZNF536	35628448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	1.397000	0.46682	0.655000	0.94253	GAC		PASS	0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	47	17	47	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34884949	34884949	+	Missense_Mutation	SNP	G	G	A	rs137853583		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:34884949G>A	ENST00000356487.5	+	12	1281	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GPI_ENST00000586425.1_Missense_Mutation_p.R347H|GPI_ENST00000415930.3_Missense_Mutation_p.R358H	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	347			R -> C (in HA-GPID; GPI Mount Scopus). {ECO:0000269|PubMed:7989588, ECO:0000269|PubMed:9446754}.|R -> H (in HA-GPID). {ECO:0000269|PubMed:8499925}.		aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.R347H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TACCTGCACCGCTTTGCTGCG	0.582																																						uc002nvg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2	GRCh37	CM930354	GPI	M	rs137853583	c.(1039-1041)CGC>CAC		glucose phosphate isomerase							72.0	65.0	67.0					19																	34884949		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884949G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1040G>A	19.37:g.34884949G>A	ENSP00000348877:p.Arg347His					GPI_uc002nvf.2_Missense_Mutation_p.R386H|GPI_uc010xrv.1_Missense_Mutation_p.R358H|GPI_uc010xrw.1_Missense_Mutation_p.R319H|GPI_uc010edl.1_Missense_Mutation_p.R347H|GPI_uc002nvi.1_Missense_Mutation_p.R10H	p.R347H	NM_000175	NP_000166	P06744	G6PI_HUMAN			12	1143	+	Esophageal squamous(110;0.162)		347		R -> H (in HA-GPID).|R -> C (in HA-GPID; GPI Mount Scopus).			B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1040G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043197	0.93685	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93712	-3.27;-3.27	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.993;0.997;0.998	D	0.97593	1.0118	10	0.87932	D	0	-18.2737	19.717	0.96124	0.0:0.0:1.0:0.0	.	319;358;320;347	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	H	358;347	ENSP00000405573:R358H;ENSP00000348877:R347H	ENSP00000348877:R347H	R	+	2	0	GPI	39576789	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.476000	0.97823	2.667000	0.90743	0.650000	0.86243	CGC		PASS	0.582	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			9	47	9	47	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36357069	36357069	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:36357069A>G	ENST00000360202.5	+	15	2000	c.1802A>G	c.(1801-1803)aAc>aGc	p.N601S	KIRREL2_ENST00000262625.7_Missense_Mutation_p.N601S|KIRREL2_ENST00000347900.6_Missense_Mutation_p.N551S|APLP1_ENST00000221891.4_5'Flank|APLP1_ENST00000537454.2_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.N566S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	601					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.N601S(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCCAACCAACGGTTACTAC	0.592																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1801-1803)AAC>AGC		kin of IRRE-like 2 isoform c							114.0	112.0	112.0					19																	36357069		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357069A>G	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1802A>G	19.37:g.36357069A>G	ENSP00000353331:p.Asn601Ser					KIRREL2_uc002obz.3_Missense_Mutation_p.N601S|KIRREL2_uc002oca.3_Missense_Mutation_p.N551S|KIRREL2_uc002occ.3_Missense_Mutation_p.N548S|KIRREL2_uc002ocd.3_Missense_Mutation_p.N563S|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	p.N601S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2014	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		601			Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1802A>G	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870121	0.72065	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.57595	0.39;0.39;0.39	4.94	4.94	0.65067	.	0.000000	0.47455	D	0.000237	T	0.56202	0.1969	N	0.19112	0.55	0.33401	D	0.577399	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.998;0.998	D;D;D;D;D	0.80764	0.985;0.994;0.97;0.987;0.987	T	0.68815	-0.5309	10	0.87932	D	0	-14.3034	11.002	0.47611	1.0:0.0:0.0:0.0	.	601;581;601;551;601	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	S	601;551;601;581;112	ENSP00000262625:N601S;ENSP00000345067:N551S;ENSP00000353331:N601S	ENSP00000262625:N601S	N	+	2	0	KIRREL2	41048909	1.000000	0.71417	0.978000	0.43139	0.877000	0.50540	6.454000	0.73493	1.839000	0.53478	0.459000	0.35465	AAC		PASS	0.592	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		82	183	82	183	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41627406	41627406	+	Silent	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:41627406C>A	ENST00000331105.2	+	5	600	c.528C>A	c.(526-528)tcC>tcA	p.S176S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	176					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S176S(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GCTCAGTGTCCAACATTATCT	0.522																																						uc002opu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)TCC>TCA		cytochrome P450, family 2, subfamily F,							167.0	158.0	161.0					19																	41627406		2177	4299	6476	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41627406C>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.528C>A	19.37:g.41627406C>A						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.S176S|CYP2F1_uc002opv.1_RNA	p.S176S	NM_000774	NP_000765	P24903	CP2F1_HUMAN			5	584	+			176					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.528C>A	CCDS12572.1																																																																																				PASS	0.522	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			70	151	70	151	---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50512642	50512642	+	Splice_Site	SNP	C	C	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:50512642C>G	ENST00000599538.1	-	4	804	c.140G>C	c.(139-141)gGc>gCc	p.G47A	VRK3_ENST00000316763.3_Splice_Site_p.G47A|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Splice_Site_p.G47A|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000593919.1_Splice_Site_p.G47A|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594092.1_Splice_Site_p.G47A|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000443401.2_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	47					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.G47A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTCTTTGAGCCTAAAGAAAG	0.498																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(139-141)GGC>GCC		vaccinia related kinase 3 isoform 1							89.0	84.0	86.0					19																	50512642		2203	4300	6503	SO:0001630	splice_region_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50512642C>G	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.140-1G>C	19.37:g.50512642C>G						VRK3_uc002prh.1_Missense_Mutation_p.G47A|VRK3_uc002pri.1_Intron|VRK3_uc010ens.2_Missense_Mutation_p.G47A|VRK3_uc010ybl.1_Intron|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Intron|VRK3_uc002prk.1_Missense_Mutation_p.G47A|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.G47A|VRK3_uc010ybn.1_Missense_Mutation_p.G47A	p.G47A	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	4	238	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	47					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.140G>C	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286506	0.40494	.	.	ENSG00000105053	ENST00000316763;ENST00000424804	T	0.27402	1.67	4.45	4.45	0.53987	.	0.407297	0.26620	N	0.023367	T	0.49167	0.1541	M	0.77820	2.39	0.33104	D	0.539601	D;P;D	0.89917	1.0;0.946;0.996	D;P;P	0.87578	0.998;0.509;0.787	T	0.52548	-0.8561	10	0.02654	T	1	.	12.9024	0.58133	0.0:1.0:0.0:0.0	.	47;47;47	E7EMG6;Q8IV63-2;Q8IV63	.;.;VRK3_HUMAN	A	47	ENSP00000324636:G47A	ENSP00000324636:G47A	G	-	2	0	VRK3	55204454	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	1.566000	0.36396	2.767000	0.95098	0.591000	0.81541	GGC		PASS	0.498	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	Missense_Mutation	66	115	66	115	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55399650	55399650	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:55399650T>A	ENST00000355524.3	+	4	648	c.638T>A	c.(637-639)cTt>cAt	p.L213H	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000353758.4_Missense_Mutation_p.L104H|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.L201H|FCAR_ENST00000469767.1_Missense_Mutation_p.L213H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	213					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L213H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GCCTTGGAGCTTGTGGTCACA	0.582																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(637-639)CTT>CAT		Fc alpha receptor isoform a precursor							70.0	62.0	64.0					19																	55399650		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399650T>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.638T>A	19.37:g.55399650T>A	ENSP00000347714:p.Leu213His					FCAR_uc002qhq.2_Missense_Mutation_p.L213H|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Missense_Mutation_p.L201H|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Missense_Mutation_p.L104H	p.L213H	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	835	+			213			Extracellular (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.638T>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264508	0.39995	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000353758;ENST00000359272	T;T;T	0.01821	4.62;4.62;4.62	2.86	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.31648	N	0.007290	T	0.11965	0.0291	M	0.93283	3.4	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.02736	-1.1117	10	0.87932	D	0	.	7.5198	0.27622	0.0:0.0:0.0:1.0	.	104;201;213;213	Q92592;Q9UEK0;P24071;P24071-4	.;.;FCAR_HUMAN;.	H	213;213;104;201	ENSP00000347714:L213H;ENSP00000338058:L104H;ENSP00000352218:L201H	ENSP00000338058:L104H	L	+	2	0	FCAR	60091462	0.067000	0.21026	0.037000	0.18230	0.013000	0.08279	1.124000	0.31320	1.539000	0.49286	0.460000	0.39030	CTT		PASS	0.582	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		18	37	18	37	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286632	57286632	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:57286632G>A	ENST00000391708.3	-	12	1550	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.T336T|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Silent_p.T336T|ZIM2_ENST00000221722.5_Silent_p.T336T|ZIM2_ENST00000593711.1_Silent_p.T336T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	336					regulation of transcription, DNA-templated (GO:0006355)|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.T336T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GCGTACTAAAGGTTCGTTTGC	0.473																																						uc002qnr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1006-1008)ACC>ACT		zinc finger, imprinted 2							162.0	144.0	150.0					19																	57286632		2203	4300	6503	SO:0001819	synonymous_variant	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286632G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1008C>T	19.37:g.57286632G>A						uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.T132T|ZIM2_uc010ygr.1_Silent_p.T132T|ZIM2_uc002qnq.2_Silent_p.T336T|ZIM2_uc010etp.2_Silent_p.T336T|ZIM2_uc010ygs.1_Silent_p.T336T	p.T336T	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1390	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	336			C2H2-type 1.		Q2M3K1	Silent	SNP	ENST00000391708.3	37	c.1008C>T	CCDS33123.1																																																																																				PASS	0.473	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			64	83	64	83	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640572	57640572	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr19:57640572G>T	ENST00000254181.4	+	4	983	c.529G>T	c.(529-531)Gta>Tta	p.V177L	USP29_ENST00000598197.1_Missense_Mutation_p.V177L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	177					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.V177L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCATCTGATGTACAGACAAA	0.368																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(529-531)GTA>TTA		ubiquitin specific peptidase 29							102.0	102.0	102.0					19																	57640572		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640572G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.529G>T	19.37:g.57640572G>T	ENSP00000254181:p.Val177Leu						p.V177L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	885	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	177						Missense_Mutation	SNP	ENST00000254181.4	37	c.529G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.558340	0.00136	.	.	ENSG00000131864	ENST00000254181	T	0.46819	0.86	2.64	0.235	0.15431	.	2.359860	0.02781	N	0.120906	T	0.19967	0.0480	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.02654	T	1	2.0153	12.832	0.57750	0.0:0.278:0.722:0.0	.	177	Q9HBJ7	UBP29_HUMAN	L	177	ENSP00000254181:V177L	ENSP00000254181:V177L	V	+	1	0	USP29	62332384	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-0.138000	0.11434	-0.187000	0.12897	GTA		PASS	0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			81	117	81	117	---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2638918	2638918	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:2638918A>G	ENST00000329276.5	+	12	2279	c.1763A>G	c.(1762-1764)cAt>cGt	p.H588R	SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	588	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.H588R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAAAAGTTCCATAAAGCATCC	0.517																																						uc002wgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1762-1764)CAT>CGT		nucleolar protein 5A							7.0	9.0	9.0					20																	2638918		2125	4230	6355	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2638918A>G	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1763A>G	20.37:g.2638918A>G	ENSP00000370589:p.His588Arg					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.H422R|NOP56_uc002wgm.1_3'UTR	p.H588R	NM_006392	NP_006383	O00567	NOP56_HUMAN			12	1816	+			588			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1763A>G	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	A	6.736	0.504635	0.12822	.	.	ENSG00000101361	ENST00000329276	T	0.56444	0.46	5.4	1.98	0.26296	.	1.427510	0.03863	N	0.274323	T	0.35653	0.0939	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.28530	T	0.3	1.8939	6.1947	0.20544	0.6882:0.0:0.3118:0.0	.	588	O00567	NOP56_HUMAN	R	588	ENSP00000370589:H588R	ENSP00000370589:H588R	H	+	2	0	NOP56	2586918	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.133000	0.10451	0.379000	0.24794	-0.288000	0.09946	CAT		PASS	0.517	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		5	10	5	10	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6022379	6022379	+	Missense_Mutation	SNP	G	G	T	rs367911236		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:6022379G>T	ENST00000378858.4	-	5	1736	c.1512C>A	c.(1510-1512)caC>caA	p.H504Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	504					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.H504H(1)|p.H504Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGGTGTGGCGTGTGTCCTCT	0.647																																						uc002wmo.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|prostate(1)	skin(3)	3						c.(1510-1512)CAC>CAA		leucine rich repeat neuronal 4 precursor							108.0	118.0	115.0					20																	6022379		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022379G>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1512C>A	20.37:g.6022379G>T	ENSP00000368135:p.His504Gln						p.H504Q	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	1736	-			504			Extracellular (Potential).		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1512C>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	1.209	-0.630115	0.03610	.	.	ENSG00000125872	ENST00000378858	T	0.53640	0.61	4.64	-2.14	0.07123	.	1.768160	0.03441	N	0.209340	T	0.16041	0.0386	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	10	0.07482	T	0.82	-0.0112	0.9266	0.01326	0.1529:0.3378:0.1558:0.3535	.	504	Q8WUT4	LRRN4_HUMAN	Q	504	ENSP00000368135:H504Q	ENSP00000368135:H504Q	H	-	3	2	LRRN4	5970379	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.142000	0.10311	-0.317000	0.08677	-1.109000	0.02080	CAC		PASS	0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		85	244	85	244	---	---	---	---
NXT1	29107	broad.mit.edu	37	20	23334882	23334882	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:23334882C>A	ENST00000254998.2	+	2	591	c.204C>A	c.(202-204)agC>agA	p.S68R	AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	68	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)		p.S68R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCCTTCCAGCGAGTTCCAAA	0.507																																						uc002wsx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(202-204)AGC>AGA		NTF2-like export factor 1							111.0	96.0	101.0					20																	23334882		2203	4300	6503	SO:0001583	missense	29107					cytoplasm|nuclear pore		g.chr20:23334882C>A	AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.204C>A	20.37:g.23334882C>A	ENSP00000254998:p.Ser68Arg						p.S68R	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN			2	591	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		68			NTF2.			Missense_Mutation	SNP	ENST00000254998.2	37	c.204C>A	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617229	0.66672	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	-2.33	0.06724	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64474	-0.6399	9	0.56958	D	0.05	.	5.8989	0.18955	0.1263:0.3865:0.0:0.4872	.	68	Q9UKK6	NXT1_HUMAN	R	68	.	ENSP00000254998:S68R	S	+	3	2	NXT1	23282882	0.890000	0.30428	0.980000	0.43619	0.982000	0.71751	-0.057000	0.11768	-0.538000	0.06281	-0.302000	0.09304	AGC		PASS	0.507	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		19	189	19	189	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24523765	24523765	+	Missense_Mutation	SNP	T	T	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:24523765T>A	ENST00000376862.3	+	2	665	c.32T>A	c.(31-33)cTg>cAg	p.L11Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	11					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.L11Q(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AAGAGCATGCTGGTGCACAGT	0.507																																						uc002wtw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)CTG>CAG		transmembrane protein 90B							93.0	89.0	91.0					20																	24523765		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523765T>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.32T>A	20.37:g.24523765T>A	ENSP00000366058:p.Leu11Gln						p.L11Q	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	665	+			11			Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.32T>A	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277656	0.59758	.	.	ENSG00000101463	ENST00000376862	D	0.93076	-3.16	5.53	5.53	0.82687	.	0.329390	0.26931	N	0.021762	D	0.95401	0.8507	L	0.57536	1.79	0.42961	D	0.994403	D	0.71674	0.998	D	0.81914	0.995	D	0.95721	0.8766	10	0.87932	D	0	-15.5576	12.0365	0.53427	0.0:0.0:0.0:1.0	.	11	Q9H7V2	SYNG1_HUMAN	Q	11	ENSP00000366058:L11Q	ENSP00000366058:L11Q	L	+	2	0	SYNDIG1	24471765	0.999000	0.42202	0.746000	0.31095	0.471000	0.32888	5.956000	0.70315	2.101000	0.63845	0.533000	0.62120	CTG		PASS	0.507	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		18	205	18	205	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25028754	25028754	+	Missense_Mutation	SNP	T	T	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:25028754T>G	ENST00000323482.4	-	2	477	c.398A>C	c.(397-399)gAt>gCt	p.D133A	ACSS1_ENST00000432802.2_Missense_Mutation_p.D133A|ACSS1_ENST00000376726.3_Missense_Mutation_p.D133A	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	133					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.D133A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCAGGCTCATCGCGCTCCCA	0.562																																						uc002wub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(397-399)GAT>GCT		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						109.0	89.0	95.0					20																	25028754		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25028754T>G		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.398A>C	20.37:g.25028754T>G	ENSP00000316924:p.Asp133Ala					ACSS1_uc002wuc.2_Missense_Mutation_p.D133A|ACSS1_uc010gdc.2_Missense_Mutation_p.D133A	p.D133A	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			2	1276	-			133					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.398A>C	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474654	0.63737	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.22336	1.96;1.96;1.96	5.39	5.39	0.77823	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.995	D;P;D	0.97110	1.0;0.895;0.936	T	0.49844	-0.8896	10	0.87932	D	0	-0.5437	11.7983	0.52112	0.0:0.0:0.0:1.0	.	133;133;133	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	A	133	ENSP00000316924:D133A;ENSP00000388793:D133A;ENSP00000365916:D133A	ENSP00000316924:D133A	D	-	2	0	ACSS1	24976754	1.000000	0.71417	0.643000	0.29450	0.250000	0.25880	6.348000	0.73009	2.041000	0.60428	0.374000	0.22700	GAT		PASS	0.562	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		25	43	25	43	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48523097	48523097	+	Missense_Mutation	SNP	A	A	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:48523097A>C	ENST00000422556.1	-	3	971	c.622T>G	c.(622-624)Tcg>Gcg	p.S208A	SPATA2_ENST00000289431.5_Missense_Mutation_p.S208A|SPATA2_ENST00000543716.1_Missense_Mutation_p.S71A	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	208					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S208A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGGCGTCCGAGCAGCCGCGC	0.652																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(622-624)TCG>GCG		spermatogenesis associated 2							36.0	34.0	34.0					20																	48523097		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523097A>C	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.622T>G	20.37:g.48523097A>C	ENSP00000416799:p.Ser208Ala					SPATA2_uc002xuw.2_Missense_Mutation_p.S208A|SPATA2_uc010zyn.1_Missense_Mutation_p.S71A	p.S208A	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	972	-	Hepatocellular(150;0.133)		208					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.622T>G	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	A	0.134	-1.110122	0.01813	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.41065	1.05;1.05;1.01	5.17	4.06	0.47325	.	0.164006	0.41396	N	0.000899	T	0.19287	0.0463	N	0.12182	0.205	0.32167	N	0.582165	B	0.06786	0.001	B	0.08055	0.003	T	0.25467	-1.0131	10	0.06099	T	0.92	-55.5893	7.5934	0.28033	0.596:0.2729:0.0:0.1311	.	208	Q9UM82	SPAT2_HUMAN	A	208;208;71	ENSP00000289431:S208A;ENSP00000416799:S208A;ENSP00000438855:S71A	ENSP00000289431:S208A	S	-	1	0	SPATA2	47956504	1.000000	0.71417	0.822000	0.32727	0.118000	0.20060	1.081000	0.30791	0.960000	0.38005	0.528000	0.53228	TCG		PASS	0.652	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		25	37	25	37	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769016	57769016	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:57769016G>T	ENST00000371030.2	+	1	2942	c.2942G>T	c.(2941-2943)gGg>gTg	p.G981V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	981							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G981V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCATTTGTTGGGTCAGGACTG	0.642																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(2941-2943)GGG>GTG		zinc finger protein 831							70.0	72.0	71.0					20																	57769016		1985	4157	6142	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769016G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2942G>T	20.37:g.57769016G>T	ENSP00000360069:p.Gly981Val						p.G981V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2942	+	all_lung(29;0.0085)		981					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2942G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600103	0.28534	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.05	-1.71	0.08133	.	1.473210	0.04282	N	0.344089	T	0.10465	0.0256	L	0.43152	1.355	0.20196	N	0.999924	D	0.58268	0.982	P	0.55824	0.785	T	0.38950	-0.9637	10	0.37606	T	0.19	-6.4562	8.7393	0.34547	0.5397:0.0:0.4603:0.0	.	981	Q5JPB2	ZN831_HUMAN	V	981	ENSP00000360069:G981V	ENSP00000360069:G981V	G	+	2	0	ZNF831	57202411	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.111000	0.10807	-0.223000	0.09943	-0.140000	0.14226	GGG		PASS	0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		61	82	61	82	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62065210	62065210	+	Missense_Mutation	SNP	T	T	C			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr20:62065210T>C	ENST00000359125.2	-	8	1244	c.1070A>G	c.(1069-1071)cAc>cGc	p.H357R	KCNQ2_ENST00000370224.1_Missense_Mutation_p.H357R|KCNQ2_ENST00000360480.3_Missense_Mutation_p.H357R|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000344462.4_Missense_Mutation_p.H357R|KCNQ2_ENST00000354587.3_Missense_Mutation_p.H357R|KCNQ2_ENST00000344425.5_Missense_Mutation_p.H357R|KCNQ2_ENST00000357249.2_Missense_Mutation_p.H357R|KCNQ2_ENST00000359689.1_Missense_Mutation_p.H357R	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	357					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.H357R(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCACGTGGAGTGCAGGTCTGT	0.622																																						uc002yey.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1069-1071)CAC>CGC		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						129.0	107.0	114.0					20																	62065210		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065210T>C	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1070A>G	20.37:g.62065210T>C	ENSP00000352035:p.His357Arg					KCNQ2_uc002yez.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfa.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfb.1_Missense_Mutation_p.H357R|KCNQ2_uc011aax.1_Missense_Mutation_p.H357R|KCNQ2_uc002yfc.1_Missense_Mutation_p.H357R	p.H357R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1247	-	all_cancers(38;1.24e-11)		357			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1070A>G	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308952	0.40895	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.99080	-5.16;-5.31;-5.31;-5.08;-5.31;-5.16;-5.14;-5.23;-5.08;-5.18;-5.4;-5.03	4.93	4.93	0.64822	.	0.151653	0.43260	D	0.000584	D	0.96867	0.8977	L	0.29908	0.895	0.39975	D	0.974842	B;B;P;P;P;P	0.43094	0.437;0.147;0.799;0.692;0.692;0.565	B;B;B;B;B;B	0.41764	0.131;0.063;0.263;0.366;0.263;0.135	D	0.97096	0.9794	10	0.25106	T	0.35	-17.9314	14.5846	0.68315	0.0:0.0:0.0:1.0	.	357;357;357;357;357;357	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	R	357	ENSP00000349789:H357R;ENSP00000352035:H357R;ENSP00000359246:H357R;ENSP00000346601:H357R;ENSP00000352718:H357R;ENSP00000399612:H357R;ENSP00000353668:H357R;ENSP00000339611:H357R;ENSP00000359244:H357R;ENSP00000359242:H357R;ENSP00000359241:H357R;ENSP00000345523:H357R	ENSP00000345523:H357R	H	-	2	0	KCNQ2	61535654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.384000	0.34396	1.869000	0.54173	0.533000	0.62120	CAC		PASS	0.622	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		57	88	57	88	---	---	---	---
SLC25A18	83733	broad.mit.edu	37	22	18065400	18065400	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr22:18065400C>T	ENST00000327451.6	+	6	809	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R91W|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	91						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.R91W(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CTTTTTCCGGCGGCTGCTCAT	0.547																																					Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)CGG>TGG		solute carrier	L-Glutamic Acid(DB00142)						46.0	40.0	42.0					22																	18065400		2203	4299	6502	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18065400C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.271C>T	22.37:g.18065400C>T	ENSP00000329033:p.Arg91Trp					SLC25A18_uc010gqx.2_Missense_Mutation_p.R91W|SLC25A18_uc002zmq.1_Missense_Mutation_p.R91W	p.R91W	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	6	765	+			91			Solcar 1.			Missense_Mutation	SNP	ENST00000327451.6	37	c.271C>T	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971761	0.53614	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.80738	-1.41;-1.41	5.18	2.95	0.34219	Mitochondrial carrier domain (2);	0.240848	0.43260	D	0.000591	T	0.70518	0.3233	L	0.51422	1.61	0.21220	N	0.99976	B	0.27264	0.173	B	0.20577	0.03	T	0.63756	-0.6565	10	0.59425	D	0.04	-25.8728	5.7912	0.18361	0.1378:0.6476:0.1344:0.0801	.	91	Q9H1K4	GHC2_HUMAN	W	91	ENSP00000329033:R91W;ENSP00000382710:R91W	ENSP00000329033:R91W	R	+	1	2	SLC25A18	16445400	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.125000	0.42016	1.307000	0.44944	0.561000	0.74099	CGG		PASS	0.547	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		5	24	5	24	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21989177	21989177	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr22:21989177G>A	ENST00000292779.3	+	4	986	c.825G>A	c.(823-825)gaG>gaA	p.E275E	CCDC116_ENST00000607942.1_Silent_p.E275E	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	275								p.E275E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TCAATAAGGAGATCAAGTCAT	0.602																																						uc002zve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(823-825)GAG>GAA		coiled-coil domain containing 116							89.0	89.0	89.0					22																	21989177		2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21989177G>A	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.825G>A	22.37:g.21989177G>A						CCDC116_uc011aih.1_Silent_p.E275E	p.E275E	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			4	918	+	Colorectal(54;0.105)		275					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.825G>A	CCDS13791.1																																																																																				PASS	0.602	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		40	232	40	232	---	---	---	---
IGLV3-12	28802	broad.mit.edu	37	22	23114943	23114943	+	RNA	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr22:23114943G>T	ENST00000390313.2	+	0	224									immunoglobulin lambda variable 3-12																		GATAGCAACCGGCCCTCAGGG	0.562																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							56.0	57.0	57.0					22																	23114943		1951	4133	6084			96610							g.chr22:23114943G>T	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114943G>T														237		+									RNA	SNP	ENST00000390313.2	37	c.11560G>T																																																																																					PASS	0.562	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		44	24	44	24	---	---	---	---
PRR14L	253143	broad.mit.edu	37	22	32108241	32108241	+	Missense_Mutation	SNP	C	C	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr22:32108241C>T	ENST00000327423.6	-	4	5773	c.5584G>A	c.(5584-5586)Ggg>Agg	p.G1862R	PRR14L_ENST00000434485.1_Missense_Mutation_p.G1862R|PRR14L_ENST00000397493.2_Missense_Mutation_p.G1862R	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1862								p.G1862W(2)|p.G1862R(2)|p.G15R(1)|p.G15W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GACCGTAACCCTTTCAGGCCC	0.532																																						uc003alp.3																			6	Substitution - Missense(6)		lung(6)		0						c.(5584-5586)GGG>AGG		hypothetical protein LOC253143							125.0	122.0	123.0					22																	32108241		2203	4300	6503	SO:0001583	missense	253143							g.chr22:32108241C>T	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5584G>A	22.37:g.32108241C>T	ENSP00000331845:p.Gly1862Arg					C22orf30_uc003alo.1_Missense_Mutation_p.G1661R|C22orf30_uc010gwj.1_Missense_Mutation_p.G1661R	p.G1862R	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN			4	5777	-			1862					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	c.5584G>A	CCDS13900.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527316|3.527316	0.64860|0.64860	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485|ENST00000330495	T;T;T|.	0.37058|.	1.22;1.22;1.22|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73953|0.73953	0.3653|0.3653	M|M	0.63843|0.63843	1.955|1.955	0.46458|0.46458	D|D	0.99905|0.99905	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.71310|0.71310	-0.4631|-0.4631	10|5	0.87932|.	D|.	0|.	-12.7823|-12.7823	18.7363|18.7363	0.91756|0.91756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1862;1862;1862|.	Q5THK1-2;Q5THK1;Q5THK1-4|.	.;PR14L_HUMAN;.|.	R|K	1862|164	ENSP00000380630:G1862R;ENSP00000331845:G1862R;ENSP00000388314:G1862R|.	ENSP00000331845:G1862R|.	G|R	-|-	1|2	0|0	PRR14L|PRR14L	30438241|30438241	1.000000|1.000000	0.71417|0.71417	0.701000|0.701000	0.30321|0.30321	0.548000|0.548000	0.35241|0.35241	3.537000|3.537000	0.53590|0.53590	2.668000|2.668000	0.90789|0.90789	0.655000|0.655000	0.94253|0.94253	GGG|AGG		PASS	0.532	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		176	103	176	103	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42018068	42018068	+	Silent	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr22:42018068A>G	ENST00000359308.4	+	1	715	c.60A>G	c.(58-60)caA>caG	p.Q20Q	XRCC6_ENST00000402580.3_Silent_p.Q20Q|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405878.1_Silent_p.Q20Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.K8R|XRCC6_ENST00000360079.3_Silent_p.Q20Q|DESI1_ENST00000263256.6_5'Flank			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	20	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).			Q -> D (in Ref. 10; AA sequence). {ECO:0000305}.	brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.Q20Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGGAAGAACAAGAAGAGAACC	0.478								Non-homologous end-joining																														uc003bao.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(58-60)CAA>CAG	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							215.0	184.0	194.0					22																	42018068		2203	4300	6503	SO:0001819	synonymous_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42018068A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.60A>G	22.37:g.42018068A>G						PPPDE2_uc003ban.1_5'Flank|PPPDE2_uc011apb.1_5'Flank|XRCC6_uc003bap.1_Silent_p.Q20Q|XRCC6_uc011apc.1_Missense_Mutation_p.K8R|XRCC6_uc003baq.1_Silent_p.Q20Q|XRCC6_uc003bar.1_Silent_p.Q20Q|XRCC6_uc003bas.1_Missense_Mutation_p.K8R	p.Q20Q	NM_001469	NP_001460	P12956	XRCC6_HUMAN			2	130	+			20	Q -> D (in Ref. 8; AA sequence).		Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.60A>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992813	0.54041	.	.	ENSG00000196419	ENST00000405506	.	.	.	5.36	-3.35	0.04928	.	.	.	.	.	T	0.26448	0.0646	.	.	.	0.29569	N	0.85008	B	0.06786	0.001	B	0.10450	0.005	T	0.29882	-0.9997	7	0.62326	D	0.03	0.7886	4.5976	0.12338	0.4093:0.0:0.3539:0.2369	.	8	B1AHC9	.	R	8	.	ENSP00000384082:K8R	K	+	2	0	XRCC6	40348014	0.571000	0.26659	0.022000	0.16811	0.201000	0.24016	-0.263000	0.08670	-0.318000	0.08665	-0.333000	0.08304	AAG		PASS	0.478	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		30	70	30	70	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3242456	3242456	+	Missense_Mutation	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:3242456G>T	ENST00000217939.6	-	5	1424	c.1270C>A	c.(1270-1272)Cag>Aag	p.Q424K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	424						extracellular vesicular exosome (GO:0070062)		p.Q424E(2)|p.Q424K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAAGAATCTGGGCTCTCACA	0.512																																						uc004crg.3																			4	Substitution - Missense(4)		lung(4)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(1270-1272)CAG>AAG		adlican precursor							101.0	92.0	95.0					X																	3242456		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242456G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1270C>A	X.37:g.3242456G>T	ENSP00000217939:p.Gln424Lys						p.Q424K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1427	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	424					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1270C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867735	0.02590	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62639	0.01	3.63	3.63	0.41609	.	0.720448	0.11566	U	0.551267	T	0.48642	0.1511	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.30937	-0.9961	10	0.23302	T	0.38	.	7.5148	0.27593	0.0:0.178:0.6359:0.1861	.	424	Q9NR99	MXRA5_HUMAN	K	424	ENSP00000217939:Q424K	ENSP00000217939:Q424K	Q	-	1	0	MXRA5	3252456	0.982000	0.34865	0.049000	0.19019	0.049000	0.14656	2.880000	0.48530	1.439000	0.47511	0.431000	0.28591	CAG		PASS	0.512	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		68	35	68	35	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31089811	31089811	+	Missense_Mutation	SNP	C	C	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:31089811C>A	ENST00000359202.3	-	1	359	c.260G>T	c.(259-261)aGg>aTg	p.R87M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	87	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.R87M(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CTCTGGCTTCCTGATATCGTG	0.602																																						uc004dcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(259-261)AGG>ATG		ferritin, heavy polypeptide-like 17							61.0	54.0	56.0					X																	31089811		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089811C>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.260G>T	X.37:g.31089811C>A	ENSP00000368207:p.Arg87Met						p.R87M	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	363	-			87			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.260G>T	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727339	0.30593	.	.	ENSG00000132446	ENST00000359202	T	0.63255	-0.03	3.46	-6.91	0.01649	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	1.482840	0.04739	N	0.422565	T	0.63105	0.2483	L	0.51422	1.61	0.09310	N	1	P	0.40230	0.708	P	0.53062	0.717	T	0.66540	-0.5898	10	0.72032	D	0.01	.	2.7526	0.05285	0.1617:0.1107:0.1946:0.5329	.	87	Q9BXU8	FHL17_HUMAN	M	87	ENSP00000368207:R87M	ENSP00000368207:R87M	R	-	2	0	FTHL17	30999732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-4.106000	0.00073	-1.050000	0.02344	AGG		PASS	0.602	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		56	25	56	25	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138680615	138680615	+	Missense_Mutation	SNP	A	A	G			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:138680615A>G	ENST00000370576.4	-	17	2088	c.1879T>C	c.(1879-1881)Tat>Cat	p.Y627H	MCF2_ENST00000520602.1_Missense_Mutation_p.Y687H|MCF2_ENST00000414978.1_Missense_Mutation_p.Y687H|MCF2_ENST00000519895.1_Missense_Mutation_p.Y703H|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.Y627H|MCF2_ENST00000370578.4_Missense_Mutation_p.Y772H|MCF2_ENST00000536274.1_Missense_Mutation_p.Y588H|MCF2_ENST00000338585.6_Missense_Mutation_p.Y643H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	627	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y627H(2)|p.Y703H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAGTAAATAGGAATCCAGT	0.284																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(1879-1881)TAT>CAT		MCF.2 cell line derived transforming sequence							128.0	113.0	118.0					X																	138680615		2202	4300	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138680615A>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1879T>C	X.37:g.138680615A>G	ENSP00000359608:p.Tyr627His					MCF2_uc004fav.2_Missense_Mutation_p.Y643H|MCF2_uc011mwl.1_Missense_Mutation_p.Y604H|MCF2_uc010nsh.1_Missense_Mutation_p.Y627H|MCF2_uc011mwm.1_Missense_Mutation_p.Y588H|MCF2_uc011mwn.1_Missense_Mutation_p.Y772H|MCF2_uc004faw.2_Missense_Mutation_p.Y687H|MCF2_uc011mwo.1_Missense_Mutation_p.Y703H	p.Y627H	NM_005369	NP_005360	P10911	MCF2_HUMAN			17	2173	-	Acute lymphoblastic leukemia(192;0.000127)		627			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1879T>C	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.7|21.7	4.190503|4.190503	0.78789|0.78789	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|T;T;T;T;T;T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80803|0.80803	0.4693|0.4693	M|M	0.85859|0.85859	2.78|2.78	0.49915|0.49915	D|D	0.999831|0.999831	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D|D	0.84146|0.84146	0.0420|0.0420	5|10	.|0.87932	.|D	.|0	.|.	13.7646|13.7646	0.62988|0.62988	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|703;772;588;627;627;772;643;627	.|E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.|.;.;.;.;.;.;.;MCF2_HUMAN	P|H	130|687;627;588;772;687;230;703;627;643	.|ENSP00000427745:Y687H;ENSP00000359608:Y627H;ENSP00000438155:Y588H;ENSP00000359610:Y772H;ENSP00000397055:Y687H;ENSP00000405848:Y230H;ENSP00000430276:Y703H;ENSP00000359605:Y627H;ENSP00000342204:Y643H	.|ENSP00000342204:Y643H	L|Y	-|-	2|1	0|0	MCF2|MCF2	138508281|138508281	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.967000|0.967000	0.64934|0.64934	7.058000|7.058000	0.76676|0.76676	1.847000|1.847000	0.53656|0.53656	0.483000|0.483000	0.47432|0.47432	CTA|TAT		PASS	0.284	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		32	11	32	11	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142716936	142716936	+	Silent	SNP	G	G	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:142716936G>T	ENST00000381779.4	-	2	2214	c.1989C>A	c.(1987-1989)tcC>tcA	p.S663S	SLITRK4_ENST00000338017.4_Silent_p.S663S|SLITRK4_ENST00000356928.1_Silent_p.S663S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	663						integral component of membrane (GO:0016021)		p.S663S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTGCATGGAGCCACAGT	0.458																																						uc004fbx.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1987-1989)TCC>TCA		slit and trk like 4 protein precursor							122.0	125.0	124.0					X																	142716936		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716936G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1989C>A	X.37:g.142716936G>T						SLITRK4_uc004fby.2_Silent_p.S663S	p.S663S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2365	-	Acute lymphoblastic leukemia(192;6.56e-05)		663			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.1989C>A	CCDS14679.1																																																																																				PASS	0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		194	55	194	55	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967583	142967583	+	Silent	SNP	G	G	A			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:142967583G>A	ENST00000370494.1	+	1	411	c.381G>A	c.(379-381)gtG>gtA	p.V127V		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	127						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.V127V(3)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGTAGTGGAGCAGTGGA	0.448																																						uc004fca.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(379-381)GTG>GTA		ubiquitin-conjugating enzyme E2N-like							145.0	120.0	128.0					X																	142967583		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967583G>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.381G>A	X.37:g.142967583G>A							p.V127V	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	411	+	Acute lymphoblastic leukemia(192;6.56e-05)		127					E9KL27	Silent	SNP	ENST00000370494.1	37	c.381G>A	CCDS35420.1																																																																																				PASS	0.448	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		118	16	118	16	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27094433	27094440	+	Frame_Shift_Del	DEL	ACCTCTGG	ACCTCTGG	-			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr1:27094433_27094440delACCTCTGG	ENST00000324856.7	+	11	3512_3519	c.3141_3148delACCTCTGG	c.(3139-3150)aaacctctggacfs	p.PLD1048fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PLD1048fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PLD665fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1048	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.L1049V(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGTAGGAAACCTCTGGACCTCTATCG	0.553			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3139-3150)AAACCTCTGGACfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094433_27094440delACCTCTGG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3141_3148delACCTCTGG	1.37:g.27094433_27094440delACCTCTGG	ENSP00000320485:p.Pro1048fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.K1047fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.K1047fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.K664fs	p.K1047fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3514_3521	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1047_1050			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3141_3148delACCTCTGG	CCDS285.1																																																																																					0.553	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		77	39	77	39	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143586805	143586806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr5:143586805_143586806insT	ENST00000507359.3	+	2	1619_1620	c.528_529insT	c.(529-531)ggcfs	p.G177fs	KCTD16_ENST00000512467.1_Frame_Shift_Ins_p.G177fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	177					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTGCACCTTGGGCAGAGAGGG	0.53																																						uc003lnm.1																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(526-531)TTGGGCfs		potassium channel tetramerisation domain																																				SO:0001589	frameshift_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586805_143586806insT	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	Exception_encountered	5.37:g.143586805_143586806insT	ENSP00000426548:p.Gly177fs					KCTD16_uc003lnn.1_Frame_Shift_Ins_p.L176fs	p.L176fs	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1157_1158	+		all_hematologic(541;0.118)	176_177					Q9P2M9	Frame_Shift_Ins	INS	ENST00000507359.3	37	c.528_529insT	CCDS34260.1																																																																																					0.530	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		39	60	39	60	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75438533	75438533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chr11:75438533delC	ENST00000198801.5	+	3	394	c.324delC	c.(322-324)cacfs	p.H108fs	MOGAT2_ENST00000526712.1_Frame_Shift_Del_p.H26fs	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	108					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CGGGCTTCCACCCCCATGGAG	0.622																																						uc010rru.1																			0				ovary(2)	2						c.(322-324)CACfs		monoacylglycerol O-acyltransferase 2							69.0	67.0	68.0					11																	75438533		2200	4293	6493	SO:0001589	frameshift_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438533delC	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.324delC	11.37:g.75438533delC	ENSP00000198801:p.His108fs					MOGAT2_uc001oww.1_Frame_Shift_Del_p.H108fs|MOGAT2_uc010rrv.1_Frame_Shift_Del_p.H26fs	p.H108fs	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			3	324	+	Ovarian(111;0.103)		108			Helical; (Potential).		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Frame_Shift_Del	DEL	ENST00000198801.5	37	c.324delC	CCDS8240.1																																																																																					0.622	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		117	60	117	60	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16711326	16711354	+	Splice_Site	DEL	TTTGTTCTCCGGTAGCACTGAGCTGAAAA	TTTGTTCTCCGGTAGCACTGAGCTGAAAA	-	rs201906471|rs193055681|rs200862252		TCGA-51-4081-01A-01D-1458-08	TCGA-51-4081-11A-01D-1458-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	1492c429-1041-4d86-9358-c9b9babd1401	fd992c39-3a26-4982-8a8c-13fef6166372	g.chrX:16711326_16711354delTTTGTTCTCCGGTAGCACTGAGCTGAAAA	ENST00000443824.1	-	6	1299_1320	c.556_577delTTTTCAGCTCAGTGCTACCGGAGAACAAA	c.(556-579)ttttcagctcagtgctaccggaga>ga	p.FSAQCYRR186fs	CTPS2_ENST00000380241.3_Splice_Site_p.FSAQCYRR186fs|CTPS2_ENST00000359276.4_Splice_Site_p.FSAQCYRR186fs	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	186					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGT	0.485																																						uc004cxk.2																			0				ovary(1)	1						c.e6-1		cytidine triphosphate synthase II																																				SO:0001630	splice_region_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16711326_16711354delTTTGTTCTCCGGTAGCACTGAGCTGAAAA	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.556-1TTTTCAGCTCAGTGCTACCGGAGAACAAA>-	X.37:g.16711326_16711354delTTTGTTCTCCGGTAGCACTGAGCTGAAAA						CTPS2_uc004cxl.2_Splice_Site_p.L186_splice|CTPS2_uc004cxm.2_Splice_Site_p.L186_splice	p.L186_splice	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN			6	1300	-	Hepatocellular(33;0.0997)							B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Splice_Site	DEL	ENST00000443824.1	37	c.556_splice	CCDS14175.1																																																																																					0.485	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857	Frame_Shift_Del	18	23	18	23	---	---	---	---
