#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
PER3	8863	broad.mit.edu	37	1	7887817	7887817	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:7887817C>T	ENST00000361923.2	+	17	2979	c.2804C>T	c.(2803-2805)cCc>cTc	p.P935L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P943L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	935					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.P935L(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGATGCCCAGACCCTCT	0.473																																						uc001aoo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2803-2805)CCC>CTC		period 3							71.0	65.0	67.0					1																	7887817		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887817C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2804C>T	1.37:g.7887817C>T	ENSP00000355031:p.Pro935Leu					PER3_uc009vmg.1_Missense_Mutation_p.P943L|PER3_uc009vmh.1_Missense_Mutation_p.P936L|PER3_uc001aop.2_Missense_Mutation_p.P943L|PER3_uc010nzw.1_Missense_Mutation_p.P624L	p.P935L	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2979	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	935					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2804C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213849	0.39102	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.11930	2.73;2.74	4.63	2.74	0.32292	.	0.392055	0.28398	N	0.015500	T	0.14141	0.0342	L	0.59436	1.845	0.09310	N	0.999997	B;B;B;B	0.25390	0.076;0.076;0.125;0.076	B;B;B;B	0.21917	0.016;0.016;0.037;0.016	T	0.16778	-1.0391	10	0.66056	D	0.02	.	9.0223	0.36206	0.0:0.7702:0.1488:0.081	.	935;943;943;935	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	943;935;146	ENSP00000366755:P943L;ENSP00000355031:P935L	ENSP00000355031:P935L	P	+	2	0	PER3	7810404	0.975000	0.34042	0.002000	0.10522	0.222000	0.24845	2.519000	0.45546	0.561000	0.29186	0.561000	0.74099	CCC		PASS	0.473	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		5	54	5	54	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12343573	12343573	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:12343573G>T	ENST00000358136.3	+	21	5544	c.5414G>T	c.(5413-5415)cGa>cTa	p.R1805L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R1805L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R1805L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTTACAATCGAGTTAACCGG	0.373																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(5413-5415)CGA>CTA		vacuolar protein sorting 13D isoform 1							145.0	137.0	140.0					1																	12343573		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12343573G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5414G>T	1.37:g.12343573G>T	ENSP00000350854:p.Arg1805Leu					VPS13D_uc001atw.2_Missense_Mutation_p.R1805L|VPS13D_uc001atx.2_Missense_Mutation_p.R993L	p.R1805L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5555	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1805						Missense_Mutation	SNP	ENST00000358136.3	37	c.5414G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.78|10.78	1.448258|1.448258	0.26074|0.26074	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52754	.|0.65;0.66	5.71|5.71	2.83|2.83	0.33086|0.33086	.|.	.|0.354688	.|0.28284	.|N	.|0.015913	.|T	.|0.31451	.|0.0797	L|L	0.38175|0.38175	1.15|1.15	0.20821|0.20821	N|N	0.999847|0.999847	.|P;B	.|0.36438	.|0.553;0.22	.|B;B	.|0.31946	.|0.138;0.065	.|T	.|0.10543	.|-1.0625	.|10	.|0.22109	.|T	.|0.4	.|.	9.0759|9.0759	0.36522|0.36522	0.3481:0.0:0.6519:0.0|0.3481:0.0:0.6519:0.0	.|.	.|1805;1805	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	X|L	628|1805	.|ENSP00000348666:R1805L;ENSP00000350854:R1805L	.|ENSP00000348666:R1805L	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12266160|12266160	0.338000|0.338000	0.24775|0.24775	0.009000|0.009000	0.14445|0.14445	0.709000|0.709000	0.40893|0.40893	2.763000|2.763000	0.47605|0.47605	0.349000|0.349000	0.23975|0.23975	0.561000|0.561000	0.74099|0.74099	GAG|CGA		PASS	0.373	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	75	5	75	---	---	---	---
CELA2B	51032	broad.mit.edu	37	1	15808768	15808768	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:15808768G>T	ENST00000375910.3	+	4	261	c.236G>T	c.(235-237)gGg>gTg	p.G79V	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3820071). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3646943}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G79V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGCTCCTCCGGGATCTACCGC	0.572																																						uc001awl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)GGG>GTG		elastase 2B preproprotein							63.0	63.0	63.0					1																	15808768		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15808768G>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.236G>T	1.37:g.15808768G>T	ENSP00000365075:p.Gly79Val						p.G79V	NM_015849	NP_056933	P08218	CEL2B_HUMAN			4	261	+			79			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.236G>T	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	g	1.994	-0.430968	0.04669	.	.	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.91351	-2.44;-2.83	3.08	-1.73	0.08081	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.574111	0.15655	U	0.251153	T	0.79185	0.4403	N	0.25332	0.735	0.26895	N	0.967233	B	0.11235	0.004	B	0.22386	0.039	T	0.62859	-0.6765	10	0.21540	T	0.41	.	3.1741	0.06562	0.3501:0.0:0.4623:0.1876	.	79	P08218	CEL2B_HUMAN	V	79;86;98	ENSP00000365075:G79V;ENSP00000399811:G98V	ENSP00000365074:G86V	G	+	2	0	CELA2B	15681355	0.043000	0.20138	0.179000	0.23059	0.003000	0.03518	0.077000	0.14738	-0.540000	0.06265	-0.617000	0.04050	GGG		PASS	0.572	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		5	42	5	42	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22154752	22154752	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:22154752G>T	ENST00000374695.3	-	89	12484	c.12405C>A	c.(12403-12405)ttC>ttA	p.F4135L	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4135	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			F -> I (in Ref. 2; CAA44373). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.F4135L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCCCACCTTTGAATCCATCTC	0.642																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(12403-12405)TTC>TTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						64.0	67.0	66.0					1																	22154752		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22154752G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12405C>A	1.37:g.22154752G>T	ENSP00000363827:p.Phe4135Leu					HSPG2_uc001bfi.2_Missense_Mutation_p.F152L|HSPG2_uc009vqd.2_Missense_Mutation_p.F4136L	p.F4135L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	89	12445	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4135	F -> I (in Ref. 2; CAA44373).		EGF-like 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12405C>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017690	0.75161	.	.	ENSG00000142798	ENST00000374695	D	0.93659	-3.26	4.5	4.5	0.54988	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40144	N	0.001162	D	0.95912	0.8669	M	0.75085	2.285	0.34200	D	0.673076	P;D	0.63046	0.931;0.992	P;P	0.62740	0.747;0.906	D	0.99818	1.1045	10	0.66056	D	0.02	.	16.1399	0.81515	0.0:0.0:1.0:0.0	.	2075;4135	Q59EG0;P98160	.;PGBM_HUMAN	L	4135	ENSP00000363827:F4135L	ENSP00000363827:F4135L	F	-	3	2	HSPG2	22027339	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.656000	0.46716	2.210000	0.71456	0.462000	0.41574	TTC		PASS	0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		9	57	9	57	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34067979	34067979	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:34067979T>C	ENST00000373380.1	-	22	3539	c.3319A>G	c.(3319-3321)Atc>Gtc	p.I1107V	CSMD2_ENST00000373381.4_Missense_Mutation_p.I2234V|CSMD2_ENST00000373388.2_Missense_Mutation_p.I333V|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Missense_Mutation_p.I333V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2236	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2236V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATGGTGATGAAATCTCCA	0.542																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6706-6708)ATC>GTC		CUB and Sushi multiple domains 2							59.0	61.0	60.0					1																	34067979		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34067979T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3319A>G	1.37:g.34067979T>C	ENSP00000362478:p.Ile1107Val					CSMD2_uc001bxm.1_Missense_Mutation_p.I2234V|CSMD2_uc001bxo.1_Missense_Mutation_p.I1107V	p.I2236V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			44	6735	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2236			Extracellular (Potential).|CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6706A>G		.	.	.	.	.	.	.	.	.	.	T	14.26	2.480984	0.44044	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.29	2.95	0.34219	CUB (5);	0.181451	0.47852	N	0.000220	T	0.18551	0.0445	L	0.28504	0.86	0.42829	D	0.994015	B;B;B	0.19817	0.002;0.039;0.019	B;B;B	0.26969	0.011;0.075;0.075	T	0.05273	-1.0895	10	0.39692	T	0.17	.	8.8927	0.35444	0.0:0.1532:0.0:0.8468	.	1107;2236;2234	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	2234;1107;333;333	ENSP00000362479:I2234V;ENSP00000362478:I1107V;ENSP00000362475:I333V;ENSP00000362486:I333V	ENSP00000241312:I2236V	I	-	1	0	CSMD2	33840566	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	5.153000	0.64888	0.330000	0.23485	0.533000	0.62120	ATC		PASS	0.542	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		5	40	5	40	---	---	---	---
GJB4	127534	broad.mit.edu	37	1	35227351	35227351	+	Missense_Mutation	SNP	G	G	A	rs141637346		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:35227351G>A	ENST00000339480.1	+	2	866	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	166					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.V166M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCTGCTCCGTGGAGCCTTG	0.582																																						uc001bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(496-498)GTG>ATG		gap junction protein, beta 4		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	52.0	54.0		496	1.6	0.0	1	dbSNP_134	54	0,8600		0,0,4300	no	missense	GJB4	NM_153212.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	166/267	35227351	1,13005	2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227351G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.496G>A	1.37:g.35227351G>A	ENSP00000345868:p.Val166Met					GJB4_uc001bxw.3_Missense_Mutation_p.V166M	p.V166M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	866	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	166			Extracellular (Potential).		B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.496G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451864	0.26074	2.27E-4	0.0	ENSG00000189433	ENST00000339480	D	0.95554	-3.74	5.73	1.6	0.23607	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.379404	0.25830	N	0.028026	D	0.91102	0.7199	L	0.44542	1.39	0.09310	N	1	B	0.30526	0.283	B	0.33454	0.164	T	0.82680	-0.0337	10	0.41790	T	0.15	.	6.0907	0.19993	0.2121:0.3061:0.4818:0.0	.	166	Q9NTQ9	CXB4_HUMAN	M	166	ENSP00000345868:V166M	ENSP00000345868:V166M	V	+	1	0	GJB4	34999938	0.001000	0.12720	0.002000	0.10522	0.747000	0.42532	0.630000	0.24553	0.026000	0.15269	0.655000	0.94253	GTG		PASS	0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		8	23	8	23	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92756981	92756981	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:92756981C>A	ENST00000370360.3	-	4	360	c.279G>T	c.(277-279)ttG>ttT	p.L93F	GLMN_ENST00000534881.1_Missense_Mutation_p.L93F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	93					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.L93F(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTACCTTTACCAATAAATCAA	0.308									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(277-279)TTG>TTT		glomulin							61.0	62.0	62.0					1																	92756981		2203	4299	6502	SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92756981C>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.279G>T	1.37:g.92756981C>A	ENSP00000359385:p.Leu93Phe					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.L93F	p.L93F	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	4	394	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	93					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.279G>T	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953630	0.34471	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.58797	0.31;0.31	5.86	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.70275	2.135	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70321	-0.4904	10	0.87932	D	0	-6.2383	12.6357	0.56683	0.0:0.8078:0.0:0.1922	.	93;93	B4DJ85;Q92990	.;GLMN_HUMAN	F	93	ENSP00000359385:L93F;ENSP00000440156:L93F	ENSP00000359385:L93F	L	-	3	2	GLMN	92529569	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	1.181000	0.32017	0.413000	0.25759	-1.094000	0.02160	TTG		PASS	0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		5	25	5	25	---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146684906	146684906	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:146684906G>T	ENST00000254090.4	-	4	844	c.456C>A	c.(454-456)acC>acA	p.T152T	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Silent_p.T152T|FMO5_ENST00000441068.2_Silent_p.T152T|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	152						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.T152T(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GATGAGCATTGGTGTGATGGC	0.507																																						uc001epi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(454-456)ACC>ACA		flavin containing monooxygenase 5 isoform 1							269.0	234.0	246.0					1																	146684906		2203	4300	6503	SO:0001819	synonymous_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684906G>T	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.456C>A	1.37:g.146684906G>T						FMO5_uc001eph.3_Silent_p.T152T|FMO5_uc001epj.2_Silent_p.T152T|FMO5_uc001epk.3_Silent_p.T152T	p.T152T	NM_001461	NP_001452	P49326	FMO5_HUMAN			4	845	-	all_hematologic(923;0.0487)		152					B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	c.456C>A	CCDS926.1																																																																																				PASS	0.507	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		6	116	6	116	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149880790	149880790	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:149880790G>T	ENST00000369146.3	-	8	1823	c.1333C>A	c.(1333-1335)Cgc>Agc	p.R445S	SV2A_ENST00000369145.1_Missense_Mutation_p.R445S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	445					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.R445S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGTGATGCGCCGATATTCG	0.507																																						uc001etg.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(1333-1335)CGC>AGC		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						440.0	372.0	395.0					1																	149880790		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149880790G>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1333C>A	1.37:g.149880790G>T	ENSP00000358142:p.Arg445Ser					SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.R445S	p.R445S	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	1824	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		445			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1333C>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947724	0.53186	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.62105	0.05;0.05	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061080	0.64402	D	0.000002	T	0.54208	0.1844	M	0.64630	1.985	0.80722	D	1	P	0.40398	0.716	P	0.45232	0.474	T	0.52320	-0.8591	10	0.23302	T	0.38	-12.027	15.8592	0.79009	0.0:0.0:1.0:0.0	.	445	Q7L0J3	SV2A_HUMAN	S	445	ENSP00000358142:R445S;ENSP00000358141:R445S	ENSP00000358141:R445S	R	-	1	0	SV2A	148147414	0.708000	0.27876	1.000000	0.80357	0.953000	0.61014	2.040000	0.41203	2.609000	0.88269	0.491000	0.48974	CGC		PASS	0.507	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			6	144	6	144	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444878	150444878	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:150444878G>A	ENST00000369068.4	+	11	3458	c.3454G>A	c.(3454-3456)Ggg>Agg	p.G1152R	RPRD2_ENST00000401000.4_Missense_Mutation_p.G1126R|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1152	Poly-Gly.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G1152R(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCATCCCTTGGGGGTGGGGG	0.547																																						uc009wlr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3454-3456)GGG>AGG		Regulation of nuclear pre-mRNA domain containing							51.0	52.0	52.0					1																	150444878		1972	4142	6114	SO:0001583	missense	23248						protein binding	g.chr1:150444878G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3454G>A	1.37:g.150444878G>A	ENSP00000358064:p.Gly1152Arg					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.G1126R	p.G1152R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	3655	+			1152			Poly-Gly.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3454G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617965	0.46736	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.52754	0.65;0.65	4.75	4.75	0.60458	.	0.219310	0.39615	N	0.001308	T	0.41143	0.1146	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68943	0.916;0.961	T	0.48340	-0.9044	10	0.87932	D	0	-8.3291	11.0861	0.48089	0.0854:0.0:0.9146:0.0	.	1152;1126	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	R	1126;1152	ENSP00000383785:G1126R;ENSP00000358064:G1152R	ENSP00000358064:G1152R	G	+	1	0	RPRD2	148711502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.935000	0.70145	2.440000	0.82611	0.563000	0.77884	GGG		PASS	0.547	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		6	39	6	39	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278619	152278619	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:152278619G>T	ENST00000368799.1	-	3	8778	c.8743C>A	c.(8743-8745)Cat>Aat	p.H2915N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2915	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2915N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGATGGTTTCTGGAA	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8743-8745)CAT>AAT		filaggrin							97.0	155.0	137.0					1																	152278619		2015	4296	6311	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278619G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8743C>A	1.37:g.152278619G>T	ENSP00000357789:p.His2915Asn						p.H2915N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8779	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2915			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8743C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780568	0.16120	.	.	ENSG00000143631	ENST00000368799	T	0.02197	4.4	2.49	1.5	0.22942	.	.	.	.	.	T	0.00998	0.0033	M	0.72118	2.19	0.09310	N	1	B	0.23377	0.084	B	0.23419	0.046	T	0.46105	-0.9215	9	0.17832	T	0.49	.	6.2878	0.21043	0.0:0.0:0.7039:0.2961	.	2915	P20930	FILA_HUMAN	N	2915	ENSP00000357789:H2915N	ENSP00000357789:H2915N	H	-	1	0	FLG	150545243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.114000	0.15520	0.547000	0.28938	0.306000	0.20318	CAT		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	263	7	263	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280465	152280465	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:152280465G>T	ENST00000368799.1	-	3	6932	c.6897C>A	c.(6895-6897)tcC>tcA	p.S2299S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2299	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2299S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTCTGGAGCTCTCTG	0.552									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6895-6897)TCC>TCA		filaggrin							266.0	280.0	275.0					1																	152280465		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280465G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6897C>A	1.37:g.152280465G>T							p.S2299S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6933	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2299			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6897C>A	CCDS30860.1																																																																																				PASS	0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	429	9	429	---	---	---	---
CHTOP	26097	broad.mit.edu	37	1	153615769	153615769	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:153615769G>T	ENST00000368694.3	+	5	782	c.470G>T	c.(469-471)cGa>cTa	p.R157L	CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368687.1_Missense_Mutation_p.R132L|CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000368690.3_Intron	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	157	Arg/Gly-rich.|Interaction with PRMT1. {ECO:0000250}.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.R157L(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GGTGGTGTTCGAGGTCGTGGA	0.562																																						uc001fcm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CGA>CTA		small protein rich in arginine and glycine							193.0	181.0	185.0					1																	153615769		2203	4300	6503	SO:0001583	missense	26097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	g.chr1:153615769G>T		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.470G>T	1.37:g.153615769G>T	ENSP00000357683:p.Arg157Leu					C1orf77_uc001fcn.1_Missense_Mutation_p.R158L|C1orf77_uc001fco.1_Missense_Mutation_p.R132L|C1orf77_uc001fcp.2_5'Flank|C1orf77_uc009woj.1_3'UTR	p.R157L	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	782	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		157			Arg/Gly-rich.|Interaction with PRMT1.		D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	c.470G>T	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802985	0.50315	.	.	ENSG00000160679	ENST00000368694;ENST00000368687	D;D	0.88201	-2.35;-2.35	5.31	5.31	0.75309	.	0.202917	0.44285	D	0.000466	D	0.83041	0.5168	L	0.56769	1.78	0.80722	D	1	B;B	0.13594	0.008;0.005	B;B	0.04013	0.001;0.001	T	0.80106	-0.1521	10	0.52906	T	0.07	.	16.5206	0.84315	0.0:0.0:1.0:0.0	.	158;157	Q9Y3Y2-3;Q9Y3Y2	.;CHTOP_HUMAN	L	157;132	ENSP00000357683:R157L;ENSP00000357676:R132L	ENSP00000357676:R132L	R	+	2	0	CHTOP	151882393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.719000	0.54926	2.763000	0.94921	0.563000	0.77884	CGA		PASS	0.562	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607		7	123	7	123	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154227742	154227742	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:154227742C>A	ENST00000361546.2	+	16	2066	c.2024C>A	c.(2023-2025)tCc>tAc	p.S675Y	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S675Y|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S675Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S686Y			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	675					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S675Y(2)|p.S171Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATTCATCCTCCTTGGGTGGC	0.498																																						uc001fep.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2023-2025)TCC>TAC		ubiquitin associated protein 2-like isoform a							177.0	154.0	162.0					1																	154227742		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227742C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2024C>A	1.37:g.154227742C>A	ENSP00000355343:p.Ser675Tyr					UBAP2L_uc009wot.2_Missense_Mutation_p.S675Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S667Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S685Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S589Y|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	p.S675Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		17	2191	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		675					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2024C>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971814	0.53614	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13901	2.57;2.55;2.55;2.55	5.72	5.72	0.89469	.	0.372363	0.28140	N	0.016460	T	0.04952	0.0133	L	0.29908	0.895	0.18873	N	0.999987	P;B;B;B;B	0.39576	0.679;0.32;0.115;0.115;0.214	B;B;B;B;B	0.34722	0.188;0.136;0.086;0.086;0.064	T	0.14531	-1.0469	10	0.72032	D	0.01	-3.3697	13.7708	0.63023	0.1535:0.8465:0.0:0.0	.	589;686;668;675;675	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	Y	675;675;171;171;686;675	ENSP00000345308:S675Y;ENSP00000389445:S675Y;ENSP00000271877:S686Y;ENSP00000355343:S675Y	ENSP00000271877:S686Y	S	+	2	0	UBAP2L	152494366	0.261000	0.24063	0.999000	0.59377	0.995000	0.86356	4.326000	0.59241	2.687000	0.91594	0.655000	0.94253	TCC		PASS	0.498	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		6	71	6	71	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155317595	155317595	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:155317595A>G	ENST00000368346.3	-	20	8309	c.7670T>C	c.(7669-7671)aTt>aCt	p.I2557T	ASH1L_ENST00000392403.3_Missense_Mutation_p.I2552T|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2557					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.I2552T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTCCCACAATCTCATCAAT	0.493																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7669-7671)ATT>ACT		absent, small, or homeotic 1-like							220.0	177.0	191.0					1																	155317595		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317595A>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7670T>C	1.37:g.155317595A>G	ENSP00000357330:p.Ile2557Thr					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.I2552T|MIR555_hsa-mir-555|MI0003561_5'Flank	p.I2557T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8150	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2557					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7670T>C		.	.	.	.	.	.	.	.	.	.	A	24.7	4.561361	0.86335	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89415	-2.51;-2.51	5.4	5.4	0.78164	Bromodomain (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.90260	0.4300	10	0.66056	D	0.02	.	15.2394	0.73455	1.0:0.0:0.0:0.0	.	2557;2552	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	2557;2552	ENSP00000357330:I2557T;ENSP00000376204:I2552T	ENSP00000357330:I2557T	I	-	2	0	ASH1L	153584219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.474000	0.90413	2.266000	0.75297	0.533000	0.62120	ATT		PASS	0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	78	7	78	---	---	---	---
MEX3A	92312	broad.mit.edu	37	1	156047123	156047123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:156047123C>A	ENST00000532414.2	-	2	804	c.805G>T	c.(805-807)Gag>Tag	p.E269*	MEX3A_ENST00000442784.1_5'UTR|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	269	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E269*(1)|p.E388*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGTGATCTCGAACACGGGG	0.602																																						uc001fnd.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(805-807)GAG>TAG		MEX3A protein							117.0	138.0	131.0					1																	156047123		2176	4277	6453	SO:0001587	stop_gained	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047123C>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.805G>T	1.37:g.156047123C>A	ENSP00000432845:p.Glu269*						p.E269*	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	805	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		269			KH 2.			Nonsense_Mutation	SNP	ENST00000532414.2	37	c.805G>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442028	0.96187	.	.	ENSG00000254726	ENST00000532414	.	.	.	5.43	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.6615	0.56815	0.0:0.9194:0.0:0.0806	.	.	.	.	X	269	.	ENSP00000432845:E269X	E	-	1	0	MEX3A	154313747	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.818000	0.86416	1.289000	0.44618	0.462000	0.41574	GAG		PASS	0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		3	16	3	16	---	---	---	---
CCT3	7203	broad.mit.edu	37	1	156287294	156287294	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:156287294G>T	ENST00000295688.3	-	9	1084	c.804C>A	c.(802-804)ctC>ctA	p.L268L	CCT3_ENST00000472765.2_Silent_p.L223L|CCT3_ENST00000368259.2_Silent_p.L230L|CCT3_ENST00000368261.3_Silent_p.L223L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	268					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L268L(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCTCCATCTGGAGAATTCGGG	0.463																																						uc001fol.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(802-804)CTC>CTA		chaperonin containing TCP1, subunit 3 isoform a							215.0	207.0	210.0					1																	156287294		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156287294G>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.804C>A	1.37:g.156287294G>T						CCT3_uc001fom.1_Silent_p.L267L|CCT3_uc001fon.1_Silent_p.L230L|CCT3_uc010phj.1_Silent_p.L222L|CCT3_uc010phk.1_Silent_p.L222L|CCT3_uc010phl.1_Silent_p.L222L	p.L268L	NM_005998	NP_005989	P49368	TCPG_HUMAN			9	1024	-	Hepatocellular(266;0.158)		268					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.804C>A	CCDS1140.2																																																																																				PASS	0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		7	162	7	162	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156819146	156819146	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:156819146G>T	ENST00000368195.3	-	6	1732	c.1336C>A	c.(1336-1338)Ccg>Acg	p.P446T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	446					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P446T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGAGGCGCGGGTTGAAGGCG	0.612																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1336-1338)CCG>ACG		insulin receptor-related receptor precursor							121.0	120.0	120.0					1																	156819146		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819146G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1336C>A	1.37:g.156819146G>T	ENSP00000357178:p.Pro446Thr					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.P446T	NM_014215	NP_055030	P14616	INSRR_HUMAN			6	1590	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		446					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1336C>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408170	0.83340	.	.	ENSG00000027644	ENST00000368195	D	0.84223	-1.82	4.77	4.77	0.60923	EGF receptor, L domain (1);	0.000000	0.45361	D	0.000371	D	0.91178	0.7221	.	.	.	0.54753	D	0.99998	D	0.89917	1.0	D	0.71184	0.972	D	0.92258	0.5814	9	0.87932	D	0	.	16.5145	0.84296	0.0:0.0:1.0:0.0	.	446	P14616	INSRR_HUMAN	T	446	ENSP00000357178:P446T	ENSP00000357178:P446T	P	-	1	0	INSRR	155085770	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.107000	0.64603	2.495000	0.84180	0.561000	0.74099	CCG		PASS	0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	83	6	83	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156882414	156882414	+	Splice_Site	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:156882414G>T	ENST00000338302.3	+	18	2434	c.2209G>T	c.(2209-2211)Gga>Tga	p.G737*	PEAR1_ENST00000292357.7_Splice_Site_p.G737*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	737					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.G737*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGCAGGATTGGTGAGTTCTT	0.602																																						uc001fqj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2209-2211)GGA>TGA		platelet endothelial aggregation receptor 1							102.0	111.0	108.0					1																	156882414		2203	4300	6503	SO:0001630	splice_region_variant	375033					integral to membrane		g.chr1:156882414G>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2209+1G>T	1.37:g.156882414G>T						PEAR1_uc001fqk.1_Nonsense_Mutation_p.G362*	p.G737*	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			17	2325	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		737					Q8TEK2	Nonsense_Mutation	SNP	ENST00000338302.3	37	c.2209G>T	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	41	8.566218	0.98866	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	.	.	.	4.95	4.95	0.65309	.	0.000000	0.43919	D	0.000505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	9.1585	0.37007	0.0966:0.0:0.9034:0.0	.	.	.	.	X	737	.	ENSP00000292357:G737X	G	+	1	0	PEAR1	155149038	0.330000	0.24705	0.985000	0.45067	0.955000	0.61496	0.611000	0.24268	2.563000	0.86464	0.563000	0.77884	GGA		PASS	0.602	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	Nonsense_Mutation	5	52	5	52	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158225830	158225830	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:158225830T>G	ENST00000289429.5	+	3	895	c.362T>G	c.(361-363)cTg>cGg	p.L121R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	121					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.L121R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGCTGTGAGCTGCACTCTGGA	0.423																																						uc001frt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(361-363)CTG>CGG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						82.0	79.0	80.0					1																	158225830		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225830T>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.362T>G	1.37:g.158225830T>G	ENSP00000289429:p.Leu121Arg						p.L121R	NM_001763	NP_001754	P06126	CD1A_HUMAN			3	895	+	all_hematologic(112;0.0378)		121			Extracellular (Potential).		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.362T>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070851	0.36566	.	.	ENSG00000158477	ENST00000289429	T	0.01005	5.45	3.49	1.09	0.20402	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.355194	0.16608	N	0.207016	T	0.01454	0.0047	M	0.82132	2.575	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.46133	-0.9213	10	0.87932	D	0	-2.2329	2.9971	0.06002	0.2117:0.1182:0.0:0.6701	.	121	P06126	CD1A_HUMAN	R	121	ENSP00000289429:L121R	ENSP00000289429:L121R	L	+	2	0	CD1A	156492454	0.001000	0.12720	0.007000	0.13788	0.004000	0.04260	0.878000	0.28126	0.213000	0.20722	0.472000	0.43445	CTG		PASS	0.423	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		7	36	7	36	---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173454564	173454564	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:173454564G>T	ENST00000340385.5	+	3	449	c.317G>T	c.(316-318)aGg>aTg	p.R106M	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	106	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.R106M(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATCGATGATAGGAATCGGGAG	0.448																																						uc001giy.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(316-318)AGG>ATG		peroxiredoxin 6							141.0	133.0	136.0					1																	173454564		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173454564G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.317G>T	1.37:g.173454564G>T	ENSP00000342026:p.Arg106Met						p.R106M	NM_004905	NP_004896	P30041	PRDX6_HUMAN			3	368	+			106			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.317G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	6.413	0.444322	0.12164	.	.	ENSG00000117592	ENST00000340385	T	0.30714	1.52	5.27	-0.0796	0.13710	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.924235	0.09408	N	0.806253	T	0.06735	0.0172	N	0.20610	0.595	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.40175	-0.9577	10	0.72032	D	0.01	-4.8805	5.4237	0.16413	0.4707:0.2729:0.2564:0.0	.	106	P30041	PRDX6_HUMAN	M	106	ENSP00000342026:R106M	ENSP00000342026:R106M	R	+	2	0	PRDX6	171721187	0.000000	0.05858	0.964000	0.40570	0.110000	0.19582	0.033000	0.13754	0.088000	0.17205	-0.966000	0.02617	AGG		PASS	0.448	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		5	45	5	45	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181680149	181680149	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr1:181680149G>A	ENST00000367573.2	+	8	1115	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R372H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R323H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R372H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R323H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R372H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	372					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R372H(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAGCTGCGGCGCCAGCAGCAG	0.567																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1114-1116)CGC>CAC		calcium channel, voltage-dependent, R type,							72.0	77.0	75.0					1																	181680149		1971	4153	6124	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680149G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1115G>A	1.37:g.181680149G>A	ENSP00000356545:p.Arg372His					CACNA1E_uc009wxs.2_Missense_Mutation_p.R279H	p.R372H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			8	1280	+			372			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1115G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427741	0.96131	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.15	5.15	0.70609	.	0.384227	0.28006	N	0.016969	D	0.96762	0.8943	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97274	0.9913	10	0.72032	D	0.01	.	18.224	0.89911	0.0:0.0:1.0:0.0	.	372;372	Q15878-2;Q15878-3	.;.	H	372;372;372;323;323;372;372	ENSP00000432038:R372H;ENSP00000356542:R372H;ENSP00000434814:R372H;ENSP00000350183:R323H;ENSP00000351101:R323H;ENSP00000353222:R372H;ENSP00000356545:R372H	ENSP00000350183:R323H	R	+	2	0	CACNA1E	179946772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.717000	0.98755	2.400000	0.81607	0.655000	0.94253	CGC		PASS	0.567	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	68	10	68	---	---	---	---
APOB	338	broad.mit.edu	37	2	21228607	21228607	+	Silent	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:21228607G>C	ENST00000233242.1	-	26	11260	c.11133C>G	c.(11131-11133)acC>acG	p.T3711T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3711					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3711T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGTTTTTGGTGTACACAA	0.403																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11131-11133)ACC>ACG		apolipoprotein B precursor	Atorvastatin(DB01076)						97.0	94.0	95.0					2																	21228607		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228607G>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11133C>G	2.37:g.21228607G>C							p.T3711T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11261	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3711					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.11133C>G	CCDS1703.1																																																																																				PASS	0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	58	8	58	---	---	---	---
DRC1	92749	broad.mit.edu	37	2	26671582	26671582	+	Missense_Mutation	SNP	G	G	T	rs145706376	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:26671582G>T	ENST00000288710.2	+	11	1494	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	474					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.A474S(1)									AGAAGAGGCCGCCGCGGAACC	0.507																																						uc002rhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)GCC>TCC		hypothetical protein LOC92749							58.0	69.0	65.0					2																	26671582		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26671582G>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1420G>T	2.37:g.26671582G>T	ENSP00000288710:p.Ala474Ser						p.A474S	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			11	1494	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		474					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1420G>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	A	4.331	0.060786	0.08339	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.13538	2.58	4.78	-6.76	0.01732	.	2.164870	0.01682	N	0.026218	T	0.07954	0.0199	N	0.20685	0.6	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.30060	-0.9991	10	0.10902	T	0.67	1.3165	9.351	0.38138	0.6118:0.0:0.2715:0.1167	.	474	Q96MC2	CC164_HUMAN	S	474;30	ENSP00000288710:A474S	ENSP00000288710:A474S	A	+	1	0	CCDC164	26525086	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.100000	0.03339	-1.722000	0.01377	-1.569000	0.00873	GCC		PASS	0.507	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		4	73	4	73	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32773032	32773032	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:32773032C>T	ENST00000421745.2	+	64	13060	c.12926C>T	c.(12925-12927)gCc>gTc	p.A4309V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4309					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A4309V(1)|p.A4281V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGAACAAGCCTTAACTAAG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12925-12927)GCC>GTC		baculoviral IAP repeat-containing 6							80.0	74.0	76.0					2																	32773032		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32773032C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12926C>T	2.37:g.32773032C>T	ENSP00000393596:p.Ala4309Val						p.A4309V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			64	13060	+	Acute lymphoblastic leukemia(172;0.155)		4309					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12926C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	35	5.478705	0.96291	.	.	ENSG00000115760	ENST00000421745	T	0.76186	-1.0	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.79258	2.445	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.88129	0.2837	10	0.87932	D	0	.	19.2725	0.94016	0.0:1.0:0.0:0.0	.	4309	Q9NR09	BIRC6_HUMAN	V	4309	ENSP00000393596:A4309V	ENSP00000393596:A4309V	A	+	2	0	BIRC6	32626536	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.561000	0.86390	0.563000	0.77884	GCC		PASS	0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	47	5	47	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86705771	86705771	+	Silent	SNP	G	G	A	rs546755224		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:86705771G>A	ENST00000409556.1	+	16	2594	c.2229G>A	c.(2227-2229)gcG>gcA	p.A743A	KDM3A_ENST00000542128.1_Silent_p.A691A|KDM3A_ENST00000409064.1_Silent_p.A743A|KDM3A_ENST00000312912.5_Silent_p.A743A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	743					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A743A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTGTAAGAGCGAAATGGGGAA	0.403																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(2227-2229)GCG>GCA		jumonji domain containing 1A							112.0	102.0	105.0					2																	86705771		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705771G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2229G>A	2.37:g.86705771G>A						KDM3A_uc010ytj.1_Silent_p.A743A|KDM3A_uc010ytk.1_Silent_p.A691A	p.A743A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			15	2556	+			743					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.2229G>A	CCDS1990.1																																																																																				PASS	0.403	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		18	42	18	42	---	---	---	---
IGKV3-11	28914	broad.mit.edu	37	2	89326856	89326856	+	RNA	SNP	A	A	C	rs543714486		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:89326856A>C	ENST00000483158.1	-	0	203									immunoglobulin kappa variable 3-11																		TACCAGGCTAAGTAGCTGCTA	0.572																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							93.0	83.0	86.0					2																	89326856		1882	4112	5994			0							g.chr2:89326856A>C	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326856A>C						uc002stl.2_Intron								68		-									RNA	SNP	ENST00000483158.1	37	c.6322T>G																																																																																					PASS	0.572	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		8	103	8	103	---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113498469	113498469	+	Silent	SNP	C	C	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:113498469C>G	ENST00000302450.6	-	8	2016	c.1938G>C	c.(1936-1938)acG>acC	p.T646T	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000541405.1_Silent_p.T481T	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	646						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T646T(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGGTGTCGCCGTGACTTGTT	0.433																																						uc002tie.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1936-1938)ACG>ACC		cytoskeleton associated protein 2-like							285.0	283.0	284.0					2																	113498469		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113498469C>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1938G>C	2.37:g.113498469C>G						CKAP2L_uc002tif.2_Silent_p.T235T|CKAP2L_uc010yxp.1_Silent_p.T481T|uc002tid.2_Intron	p.T646T	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			8	2017	-			646					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.1938G>C	CCDS2100.1																																																																																				PASS	0.433	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		35	138	35	138	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132288338	132288338	+	Missense_Mutation	SNP	G	G	A	rs140463466	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:132288338G>A	ENST00000295171.6	+	3	620	c.482G>A	c.(481-483)cGc>cAc	p.R161H	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R263H	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	161								p.R161H(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GACACTGTGCGCTCTCCTGCA	0.627													g|||	7	0.00139776	0.0023	0.0014	5008	,	,		15970	0.001		0.002	False		,,,				2504	0.0					uc002tta.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(481-483)CGC>CAC		coiled-coil domain containing 74A		G	HIS/ARG	23,4381		0,23,2179	68.0	73.0	72.0		482	0.9	0.0	2	dbSNP_134	72	25,8575		0,25,4275	no	missense	CCDC74A	NM_138770.1	29	0,48,6454	AA,AG,GG		0.2907,0.5223,0.3691	benign	161/379	132288338	48,12956	2202	4300	6502	SO:0001583	missense	90557							g.chr2:132288338G>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.482G>A	2.37:g.132288338G>A	ENSP00000295171:p.Arg161His					CCDC74A_uc002ttb.2_Intron	p.R161H	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			3	534	+			161					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.482G>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	1.966	-0.437765	0.04636	0.005223	0.002907	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.51574	1.82;0.7	0.915	0.915	0.19366	.	.	.	.	.	T	0.16938	0.0407	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14615	-1.0466	9	0.51188	T	0.08	.	5.2126	0.15325	0.0:0.0:1.0:0.0	.	161	Q96AQ1	CC74A_HUMAN	H	161;263	ENSP00000295171:R161H;ENSP00000444610:R263H	ENSP00000295171:R161H	R	+	2	0	CCDC74A	132004808	0.000000	0.05858	0.025000	0.17156	0.141000	0.21300	-2.780000	0.00773	0.799000	0.34018	0.194000	0.17425	CGC		PASS	0.627	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		13	21	13	21	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167319016	167319016	+	Silent	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:167319016A>G	ENST00000409855.1	-	9	1092	c.966T>C	c.(964-966)tgT>tgC	p.C322C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	322					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.C322C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAGCTTTTACACACACATATC	0.378																																						uc002udu.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(964-966)TGT>TGC		sodium channel, voltage-gated, type VII, alpha							70.0	62.0	64.0					2																	167319016		1849	4102	5951	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167319016A>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.966T>C	2.37:g.167319016A>G						SCN7A_uc010fpm.1_RNA	p.C322C	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			9	1093	-			322						Silent	SNP	ENST00000409855.1	37	c.966T>C	CCDS46442.1																																																																																				PASS	0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	30	6	30	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170009390	170009390	+	Missense_Mutation	SNP	C	C	T	rs142934522	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:170009390C>T	ENST00000263816.3	-	67	12665	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4127					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R4127H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGATTATTGCGGCCGGATTC	0.473													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		20869	0.0		0.0	False		,,,				2504	0.001					uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12379-12381)CGC>CAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	239.0	236.0	237.0		12380	-2.1	0.0	2	dbSNP_134	237	33,8567	22.8+/-68.1	1,31,4268	yes	missense	LRP2	NM_004525.2	29	1,34,6468	TT,TC,CC		0.3837,0.0681,0.2768	possibly-damaging	4127/4656	170009390	36,12970	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009390C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12380G>A	2.37:g.170009390C>T	ENSP00000263816:p.Arg4127His						p.R4127H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12593	-			4127			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12380G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.209	0.799792	0.16397	6.81E-4	0.003837	ENSG00000081479	ENST00000263816	D	0.91351	-2.83	5.59	-2.13	0.07144	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.630193	0.18293	N	0.145670	T	0.75917	0.3915	L	0.29908	0.895	0.22001	N	0.999424	P	0.49961	0.93	B	0.32928	0.155	T	0.71213	-0.4659	10	0.34782	T	0.22	.	5.0719	0.14611	0.0933:0.5419:0.1917:0.1731	.	4127	P98164	LRP2_HUMAN	H	4127	ENSP00000263816:R4127H	ENSP00000263816:R4127H	R	-	2	0	LRP2	169717636	0.003000	0.15002	0.002000	0.10522	0.271000	0.26615	0.344000	0.19962	-0.713000	0.04981	-2.018000	0.00433	CGC		PASS	0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		24	211	24	211	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172700882	172700882	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:172700882G>T	ENST00000422440.2	-	5	499	c.462C>A	c.(460-462)ctC>ctA	p.L154L	SLC25A12_ENST00000392592.4_Silent_p.L47L|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	154	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.L154L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGCTCACCTGGAGAAACTGCG	0.348																																						uc002uhh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CTC>CTA		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						141.0	156.0	151.0					2																	172700882		2203	4300	6503	SO:0001819	synonymous_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172700882G>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.462C>A	2.37:g.172700882G>T						SLC25A12_uc010fqh.2_Silent_p.L47L|SLC25A12_uc010zdv.1_RNA	p.L154L	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		5	551	-			154			EF-hand 3.		B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.462C>A	CCDS33327.1																																																																																				PASS	0.348	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		5	68	5	68	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189927746	189927746	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:189927746G>T	ENST00000374866.3	-	28	2187	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	638					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P638H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCTGCCCAGGAACTCCAGC	0.353																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1912-1914)CCT>CAT		alpha 2 type V collagen preproprotein							95.0	109.0	104.0					2																	189927746		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927746G>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1913C>A	2.37:g.189927746G>T	ENSP00000364000:p.Pro638His					COL5A2_uc010frx.2_Missense_Mutation_p.P214H	p.P638H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		28	2188	-			638					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1913C>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351953	0.82132	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93488	-3.23	5.06	5.06	0.68205	.	0.000000	0.51477	D	0.000098	D	0.96873	0.8979	M	0.87971	2.92	0.80722	D	1	D;D	0.64830	0.994;0.983	P;D	0.63793	0.753;0.918	D	0.97109	0.9803	9	.	.	.	.	18.7918	0.91976	0.0:0.0:1.0:0.0	.	278;638	Q5PR22;P05997	.;CO5A2_HUMAN	H	638;278	ENSP00000364000:P638H	.	P	-	2	0	COL5A2	189635991	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.581000	0.82535	2.513000	0.84729	0.467000	0.42956	CCT		PASS	0.353	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	101	7	101	---	---	---	---
RFTN2	130132	broad.mit.edu	37	2	198498590	198498590	+	Silent	SNP	T	T	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:198498590T>A	ENST00000295049.4	-	4	1106	c.570A>T	c.(568-570)tcA>tcT	p.S190S		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	190					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.S190S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGTTTTCATCTGAACCGTGTC	0.398																																						uc002uuo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)TCA>TCT		raftlin family member 2							228.0	205.0	213.0					2																	198498590		2203	4300	6503	SO:0001819	synonymous_variant	130132					plasma membrane		g.chr2:198498590T>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.570A>T	2.37:g.198498590T>A							p.S190S	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	972	-			190					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	ENST00000295049.4	37	c.570A>T	CCDS2323.1																																																																																				PASS	0.398	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		7	50	7	50	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202625741	202625741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:202625741C>A	ENST00000264276.6	-	4	1348	c.976G>T	c.(976-978)Gga>Tga	p.G326*	ALS2_ENST00000467448.1_Nonsense_Mutation_p.G326*|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	326					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G326*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCAGTTGTTCCCATGACATTT	0.433																																						uc002uyo.2																			2	Substitution - Nonsense(2)		lung(2)	skin(5)|lung(1)|breast(1)	7						c.(976-978)GGA>TGA		alsin isoform 1							203.0	193.0	196.0					2																	202625741		2067	4215	6282	SO:0001587	stop_gained	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202625741C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.976G>T	2.37:g.202625741C>A	ENSP00000264276:p.Gly326*					ALS2_uc002uyp.3_Nonsense_Mutation_p.G326*|ALS2_uc002uyq.2_Nonsense_Mutation_p.G326*|ALS2_uc002uyr.2_Nonsense_Mutation_p.G326*	p.G326*	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			4	1332	-			326					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Nonsense_Mutation	SNP	ENST00000264276.6	37	c.976G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671666	0.88348	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	.	.	.	6.17	6.17	0.99709	.	0.411771	0.27397	N	0.019546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	14.7344	0.69406	0.1442:0.8558:0.0:0.0	.	.	.	.	X	326	.	ENSP00000264276:G326X	G	-	1	0	ALS2	202333986	0.876000	0.30132	0.847000	0.33407	0.066000	0.16364	4.083000	0.57643	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.433	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		7	103	7	103	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219296605	219296605	+	Missense_Mutation	SNP	T	T	A	rs367908942		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:219296605T>A	ENST00000248444.5	+	11	1216	c.1128T>A	c.(1126-1128)gaT>gaA	p.D376E	VIL1_ENST00000392114.2_Missense_Mutation_p.D65E	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	376	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.D376E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGTTCGATGCCACATCCA	0.552																																						uc002via.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)GAT>GAA		villin 1							103.0	81.0	88.0					2																	219296605		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296605T>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1128T>A	2.37:g.219296605T>A	ENSP00000248444:p.Asp376Glu					VIL1_uc010zke.1_Missense_Mutation_p.D65E|VIL1_uc002vib.2_Missense_Mutation_p.D376E	p.D376E	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1193	+		Renal(207;0.0474)	376			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1128T>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245375	0.39697	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.31510	1.49;2.42	4.88	-1.5	0.08691	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	M	0.85859	2.78	0.80722	D	1	D	0.65815	0.995	P	0.54312	0.748	T	0.54262	-0.8320	10	0.49607	T	0.09	-20.6861	11.0446	0.47850	0.0:0.4903:0.0:0.5097	.	376	P09327	VILI_HUMAN	E	376;65	ENSP00000248444:D376E;ENSP00000375962:D65E	ENSP00000248444:D376E	D	+	3	2	VIL1	219004849	0.094000	0.21725	0.972000	0.41901	0.358000	0.29455	-0.673000	0.05239	-0.034000	0.13713	0.379000	0.24179	GAT		PASS	0.552	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		5	17	5	17	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219328034	219328034	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:219328034A>C	ENST00000258399.3	-	22	2934	c.2522T>G	c.(2521-2523)cTt>cGt	p.L841R	USP37_ENST00000415516.1_Missense_Mutation_p.L747R|USP37_ENST00000418019.1_Missense_Mutation_p.L841R|USP37_ENST00000454775.1_Missense_Mutation_p.L841R	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	841	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.L841R(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CACACCTTGAAGACTTAACTC	0.348																																						uc002vie.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|prostate(1)	5						c.(2521-2523)CTT>CGT		ubiquitin specific peptidase 37							99.0	99.0	99.0					2																	219328034		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219328034A>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2522T>G	2.37:g.219328034A>C	ENSP00000258399:p.Leu841Arg					USP37_uc010fvs.1_Missense_Mutation_p.L841R|USP37_uc010zkf.1_Missense_Mutation_p.L841R|USP37_uc002vif.2_Missense_Mutation_p.L841R|USP37_uc002vig.2_Missense_Mutation_p.L747R	p.L841R	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	22	2975	-		Renal(207;0.0915)	841			UIM 3.		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2522T>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346624	0.82022	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.52057	0.73;0.73;0.68;0.73	4.77	4.77	0.60923	Ubiquitin interacting motif (3);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70806	-0.4772	10	0.87932	D	0	-13.0828	14.7551	0.69557	1.0:0.0:0.0:0.0	.	747;841	Q86T82-2;Q86T82	.;UBP37_HUMAN	R	841;841;747;841	ENSP00000258399:L841R;ENSP00000393662:L841R;ENSP00000400902:L747R;ENSP00000396585:L841R	ENSP00000258399:L841R	L	-	2	0	USP37	219036278	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.305000	0.89960	2.127000	0.65507	0.477000	0.44152	CTT		PASS	0.348	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		9	87	9	87	---	---	---	---
ZFAND2B	130617	broad.mit.edu	37	2	220072369	220072369	+	Splice_Site	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:220072369G>T	ENST00000289528.5	+	3	345		c.e3-1		ZFAND2B_ENST00000409217.1_Splice_Site|ZFAND2B_ENST00000468301.1_Splice_Site|ZFAND2B_ENST00000409336.1_Splice_Site|ZFAND2B_ENST00000409206.1_Splice_Site|ZFAND2B_ENST00000444522.2_Splice_Site|ZFAND2B_ENST00000409097.1_Splice_Site|ZFAND2B_ENST00000409594.1_Splice_Site|ZFAND2B_ENST00000409319.1_Splice_Site|ZFAND2B_ENST00000409412.1_Splice_Site	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B							endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGACTACAGGATATCCAGG	0.537																																						uc002vka.2																			1	Unknown(1)		lung(1)		0						c.e3-1		zinc finger, AN1-type domain 2B							92.0	80.0	84.0					2																	220072369		2203	4300	6503	SO:0001630	splice_region_variant	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220072369G>T	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.151-1G>T	2.37:g.220072369G>T						ZFAND2B_uc010zkt.1_Splice_Site_p.D51_splice|ZFAND2B_uc010fwd.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjy.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjz.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vkb.1_Splice_Site	p.D51_splice	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	323	+		Renal(207;0.0915)						Q8NB98	Splice_Site	SNP	ENST00000289528.5	37	c.151_splice	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214059	0.79352	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409412;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000409319;ENST00000444522	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4617	0.90741	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFAND2B	219780613	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.953000	0.93041	2.691000	0.91804	0.655000	0.94253	.		PASS	0.537	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802	Intron	5	57	5	57	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234878421	234878421	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr2:234878421C>A	ENST00000324695.4	+	16	2148	c.2108C>A	c.(2107-2109)cCc>cAc	p.P703H	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	703					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P703H(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTATTATACCCTTGGTGGGC	0.423																																						uc002vvh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(2107-2109)CCC>CAC		transient receptor potential cation channel,	Menthol(DB00825)						204.0	183.0	190.0					2																	234878421		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878421C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2108C>A	2.37:g.234878421C>A	ENSP00000323926:p.Pro703His					TRPM8_uc010fyj.2_Intron	p.P703H	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	16	2148	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	703			Helical; Name=1; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2108C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465963	0.84425	.	.	ENSG00000144481	ENST00000324695	T	0.70631	-0.5	5.37	5.37	0.77165	.	0.211136	0.34314	N	0.004069	D	0.86079	0.5847	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88168	0.2862	10	0.87932	D	0	-24.7349	17.7529	0.88440	0.0:1.0:0.0:0.0	.	703	Q7Z2W7	TRPM8_HUMAN	H	703	ENSP00000323926:P703H	ENSP00000323926:P703H	P	+	2	0	TRPM8	234543160	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	5.766000	0.68843	2.540000	0.85666	0.460000	0.39030	CCC		PASS	0.423	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		14	81	14	81	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906223	42906223	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:42906223C>A	ENST00000422265.1	+	3	404	c.229C>A	c.(229-231)Cgc>Agc	p.R77S	ACKR2_ENST00000273145.2_Missense_Mutation_p.R77S|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.R77S|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	77					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.R77S(1)									TTACGTGCCTCGCAGGCGGAT	0.537																																						uc003cme.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(229-231)CGC>AGC		chemokine binding protein 2							182.0	155.0	165.0					3																	42906223		2203	4300	6503	SO:0001583	missense	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906223C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.229C>A	3.37:g.42906223C>A	ENSP00000416996:p.Arg77Ser					CCBP2_uc003cmd.1_Missense_Mutation_p.R77S|CCBP2_uc003cmf.2_Missense_Mutation_p.R77S|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	p.R77S	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	3	408	+			77			Cytoplasmic (Potential).		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.229C>A	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284726	0.23392	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.38722	1.12;1.12;1.12	5.52	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.625328	0.13943	N	0.352066	T	0.23688	0.0573	N	0.17082	0.46	0.09310	N	1	B;B	0.26512	0.151;0.151	B;B	0.22601	0.028;0.04	T	0.13737	-1.0498	9	.	.	.	.	7.3925	0.26917	0.1474:0.6917:0.0:0.1609	.	77;77	O00590;Q7Z7I1	CCBP2_HUMAN;.	S	77	ENSP00000396150:R77S;ENSP00000416996:R77S;ENSP00000273145:R77S	.	R	+	1	0	CCBP2	42881227	0.000000	0.05858	0.825000	0.32803	0.340000	0.28889	-0.143000	0.10296	1.337000	0.45525	0.563000	0.77884	CGC		PASS	0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		4	74	4	74	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52417939	52417939	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:52417939C>A	ENST00000420323.2	+	52	8475	c.8214C>A	c.(8212-8214)acC>acA	p.T2738T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2738	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2738T(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCTGTACCATCGACTGGT	0.552																																						uc011bef.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(3)	3						c.(8212-8214)ACC>ACA		dynein, axonemal, heavy chain 1							41.0	43.0	42.0					3																	52417939		1953	4144	6097	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417939C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8214C>A	3.37:g.52417939C>A						DNAH1_uc003ddv.2_5'Flank	p.T2738T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	52	8475	+			2738			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8214C>A	CCDS46842.1																																																																																				PASS	0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	17	4	17	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833895	52833895	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:52833895C>A	ENST00000449956.2	+	9	1039	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K	ITIH3_ENST00000416872.2_Missense_Mutation_p.Q345K|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	345	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q345K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGAGAACCTCCAGGAGGCCAG	0.542																																						uc003dfv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)	3						c.(1033-1035)CAG>AAG		inter-alpha (globulin) inhibitor H3							75.0	80.0	78.0					3																	52833895		1976	4175	6151	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52833895C>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1033C>A	3.37:g.52833895C>A	ENSP00000415769:p.Gln345Lys					ITIH3_uc011bek.1_Missense_Mutation_p.Q345K	p.Q345K	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	9	1069	+			345			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1033C>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	4.581	0.107889	0.08780	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.77098	-1.07;-1.07	5.03	-0.387	0.12463	von Willebrand factor, type A (3);	0.657650	0.16616	N	0.206685	T	0.51601	0.1684	N	0.10707	0.03	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.004;0.005	T	0.35847	-0.9772	10	0.09843	T	0.71	-12.4944	9.1763	0.37114	0.317:0.3384:0.3445:0.0	.	345;345	E7ET33;Q06033	.;ITIH3_HUMAN	K	345;333;340;345;345	ENSP00000413922:Q345K;ENSP00000415769:Q345K	ENSP00000273291:Q340K	Q	+	1	0	ITIH3	52808935	0.006000	0.16342	0.974000	0.42286	0.730000	0.41778	-0.091000	0.11146	0.078000	0.16900	0.655000	0.94253	CAG		PASS	0.542	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	55	5	55	---	---	---	---
HCLS1	3059	broad.mit.edu	37	3	121363748	121363748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:121363748C>A	ENST00000314583.3	-	5	407	c.316G>T	c.(316-318)Gag>Tag	p.E106*	HCLS1_ENST00000428394.2_Nonsense_Mutation_p.E106*|HCLS1_ENST00000473883.1_5'Flank	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	106					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.E106*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTCTCCACCTCGGCAACATAC	0.463																																						uc003eeh.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(316-318)GAG>TAG		hematopoietic cell-specific Lyn substrate 1							136.0	117.0	123.0					3																	121363748		2203	4300	6503	SO:0001587	stop_gained	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121363748C>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.316G>T	3.37:g.121363748C>A	ENSP00000320176:p.Glu106*					HCLS1_uc011bjj.1_Nonsense_Mutation_p.E106*|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Nonsense_Mutation_p.E106*	p.E106*	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	5	441	-			106			Cortactin 1.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Nonsense_Mutation	SNP	ENST00000314583.3	37	c.316G>T	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502738	0.85176	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	.	.	.	4.96	4.96	0.65561	.	0.408289	0.29225	N	0.012761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6596	15.7504	0.77980	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000320176:E106X	E	-	1	0	HCLS1	122846438	0.821000	0.29204	0.994000	0.49952	0.974000	0.67602	1.462000	0.35266	2.582000	0.87167	0.650000	0.86243	GAG		PASS	0.463	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		4	85	4	85	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121631906	121631906	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:121631906G>T	ENST00000489711.1	+	5	855	c.467G>T	c.(466-468)gGg>gTg	p.G156V	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G125V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	156					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.G156V(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATAGCTTTGGGGACAGGAGGC	0.418																																						uc003eep.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(466-468)GGG>GTG		peptide transporter 2 isoform a	Cefadroxil(DB01140)						329.0	322.0	324.0					3																	121631906		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121631906G>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.467G>T	3.37:g.121631906G>T	ENSP00000417085:p.Gly156Val					SLC15A2_uc011bjn.1_Missense_Mutation_p.G125V	p.G156V	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	5	620	+			156			Helical; (Potential).		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.467G>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156556	0.78114	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	T;T;T	0.29397	1.57;1.57;1.57	6.05	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	H	0.95745	3.715	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.99;0.994	T	0.74147	-0.3759	10	0.87932	D	0	-5.7084	10.9391	0.47262	0.0:0.1408:0.7132:0.146	.	125;156	B4E2A7;Q16348	.;S15A2_HUMAN	V	156;118;125;94	ENSP00000417085:G156V;ENSP00000295605:G125V;ENSP00000418704:G94V	ENSP00000295605:G125V	G	+	2	0	SLC15A2	123114596	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.488000	0.81441	1.552000	0.49463	-0.188000	0.12872	GGG		PASS	0.418	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		10	326	10	326	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		40	Substitution - Missense(40)	p.C420R(26)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1258-1260)TGT>CGT		phosphoinositide-3-kinase, catalytic, alpha							85.0	80.0	82.0					3																	178927980		1822	4078	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927980T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C420R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1415	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		420		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1258T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		PASS	0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	23	19	23	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183995720	183995720	+	Silent	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:183995720C>T	ENST00000402825.3	+	5	840	c.840C>T	c.(838-840)acC>acT	p.T280T	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.T208T|ECE2_ENST00000404464.3_Silent_p.T162T|ECE2_ENST00000359140.4_Silent_p.T133T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	280	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.T280T(1)|p.T208T(1)|p.T133T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGAAAACACCACCTTCAACT	0.557																																						uc003fni.3																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)	4						c.(838-840)ACC>ACT		endothelin converting enzyme 2 isoform A							90.0	91.0	91.0					3																	183995720		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183995720C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.840C>T	3.37:g.183995720C>T						ECE2_uc011brg.1_Silent_p.T208T|ECE2_uc011brh.1_Silent_p.T133T|ECE2_uc003fnl.3_Silent_p.T208T|ECE2_uc003fnm.3_Silent_p.T162T|ECE2_uc003fnk.3_Silent_p.T133T|ECE2_uc011bri.1_Silent_p.T195T|ECE2_uc010hxv.2_5'UTR	p.T280T	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	878	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		280			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.840C>T	CCDS3256.2																																																																																				PASS	0.557	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		11	140	11	140	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192125875	192125875	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr3:192125875G>T	ENST00000454309.2	-	1	963	c.138C>A	c.(136-138)ctC>ctA	p.L46L	FGF12_ENST00000450716.1_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.2_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	46					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.L46L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAACACCCCGAGGACGTGCC	0.687																																						uc003fsx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(136-138)CTC>CTA		fibroblast growth factor 12 isoform 1							74.0	85.0	82.0					3																	192125875		2198	4277	6475	SO:0001819	synonymous_variant	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192125875G>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.138C>A	3.37:g.192125875G>T						FGF12_uc003fsy.2_Intron	p.L46L	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	1	964	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	46					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	c.138C>A	CCDS3301.1																																																																																				PASS	0.687	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		5	125	5	125	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20598114	20598114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:20598114G>T	ENST00000504154.1	+	32	3649	c.3397G>T	c.(3397-3399)Gga>Tga	p.G1133*	SLIT2_ENST00000273739.5_Nonsense_Mutation_p.G1146*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.G1129*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.G1125*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1133	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.G1133*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTGTCAGAATGGAGCTCAGTG	0.398																																						uc003gpr.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3397-3399)GGA>TGA		slit homolog 2 precursor							122.0	121.0	121.0					4																	20598114		2203	4300	6503	SO:0001587	stop_gained	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598114G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3397G>T	4.37:g.20598114G>T	ENSP00000422591:p.Gly1133*					SLIT2_uc003gps.1_Nonsense_Mutation_p.G1125*	p.G1133*	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3601	+			1133			EGF-like 6.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Nonsense_Mutation	SNP	ENST00000504154.1	37	c.3397G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	42	9.560609	0.99205	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	6.17	6.17	0.99709	.	0.092415	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1125;1133;1146;1129;1129	.	ENSP00000273739:G1146X	G	+	1	0	SLIT2	20207212	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	7.582000	0.82546	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.398	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	26	4	26	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509219	71509219	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:71509219C>A	ENST00000396073.3	+	9	2357	c.2076C>A	c.(2074-2076)acC>acA	p.T692T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	692					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.T692T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACAATATACCTCAAATCAGC	0.413																																						uc011caw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2074-2076)ACC>ACA		enamelin precursor							87.0	88.0	87.0					4																	71509219		2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509219C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2076C>A	4.37:g.71509219C>A							p.T692T	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2357	+			692					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.2076C>A	CCDS3544.2																																																																																				PASS	0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		6	87	6	87	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76788552	76788552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:76788552G>T	ENST00000286719.7	-	14	2026	c.1670C>A	c.(1669-1671)tCg>tAg	p.S557*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	557					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.S557*(1)|p.S557L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCAGAGCCGACTCCTCCAC	0.398																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1669-1671)TCG>TAG		serine/threonine protein phosphatase with							58.0	60.0	60.0					4																	76788552		2203	4300	6503	SO:0001587	stop_gained	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76788552G>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1670C>A	4.37:g.76788552G>T	ENSP00000286719:p.Ser557*					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.S557*	p.S557*	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		14	2027	-			557					O14831	Nonsense_Mutation	SNP	ENST00000286719.7	37	c.1670C>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	42	9.694045	0.99240	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	.	.	.	6.04	6.04	0.98038	.	1.047520	0.07417	N	0.893347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7011	18.073	0.89417	0.0:0.0:1.0:0.0	.	.	.	.	X	557	.	ENSP00000286719:S557X	S	-	2	0	PPEF2	77007576	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.088000	0.94132	2.873000	0.98535	0.561000	0.74099	TCG		PASS	0.398	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		4	31	4	31	---	---	---	---
SOWAHB	345079	broad.mit.edu	37	4	77816806	77816806	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:77816806G>T	ENST00000334306.2	-	1	2196	c.2197C>A	c.(2197-2199)Cct>Act	p.P733T		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	733								p.P733T(1)									GGATAGACAGGGAAAATGGGC	0.502																																						uc003hki.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2197-2199)CCT>ACT		ankyrin repeat domain 56							191.0	211.0	205.0					4																	77816806		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816806G>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2197C>A	4.37:g.77816806G>T	ENSP00000334879:p.Pro733Thr						p.P733T	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	2197	-			733					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2197C>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621665	0.14193	.	.	ENSG00000186212	ENST00000334306	T	0.05319	3.46	5.5	3.8	0.43715	.	0.131288	0.31884	U	0.006911	T	0.06371	0.0164	L	0.38692	1.165	0.31721	N	0.63832	P	0.43352	0.804	B	0.41412	0.356	T	0.09796	-1.0658	10	0.48119	T	0.1	-7.0477	8.1297	0.31020	0.1377:0.1287:0.7335:0.0	.	733	A6NEL2	ANR56_HUMAN	T	733	ENSP00000334879:P733T	ENSP00000334879:P733T	P	-	1	0	ANKRD56	78035830	1.000000	0.71417	0.901000	0.35422	0.100000	0.18952	1.748000	0.38308	0.895000	0.36342	-0.137000	0.14449	CCT		PASS	0.502	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		9	327	9	327	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239230	126239230	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:126239230G>T	ENST00000394329.3	+	1	1677	c.1664G>T	c.(1663-1665)cGg>cTg	p.R555L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R555L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAAGTGCCCGGGACCAGGGA	0.517											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1663-1665)CGG>CTG		FAT tumor suppressor homolog 4 precursor							39.0	41.0	40.0					4																	126239230		1947	4152	6099	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239230G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1664G>T	4.37:g.126239230G>T	ENSP00000377862:p.Arg555Leu		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R555L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1664	+			555			Cadherin 5.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1664G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567258	0.65651	.	.	ENSG00000196159	ENST00000394329	T	0.52754	0.65	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.000000	0.31897	U	0.006897	T	0.57140	0.2033	M	0.66439	2.03	0.80722	D	1	P	0.42908	0.793	P	0.47705	0.555	T	0.59716	-0.7402	10	0.44086	T	0.13	.	17.7681	0.88484	0.0:0.0:1.0:0.0	.	555	Q6V0I7	FAT4_HUMAN	L	555	ENSP00000377862:R555L	ENSP00000377862:R555L	R	+	2	0	FAT4	126458680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.921000	0.75805	2.419000	0.82065	0.561000	0.74099	CGG		PASS	0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	19	11	19	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154525134	154525134	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:154525134C>A	ENST00000409663.3	+	25	3019	c.2967C>A	c.(2965-2967)acC>acA	p.T989T	KIAA0922_ENST00000440693.1_Silent_p.T906T|KIAA0922_ENST00000409959.3_Silent_p.T990T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	989						integral component of membrane (GO:0016021)		p.T990T(1)|p.T842T(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AACACAAAACCAGCACAGCTG	0.517																																						uc003inm.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2965-2967)ACC>ACA		hypothetical protein LOC23240 isoform 2							49.0	43.0	45.0					4																	154525134		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154525134C>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2967C>A	4.37:g.154525134C>A						KIAA0922_uc010ipp.2_Silent_p.T990T|KIAA0922_uc010ipq.2_Silent_p.T758T	p.T989T	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			25	3019	+	all_hematologic(180;0.093)	Renal(120;0.118)	989			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.2967C>A	CCDS3783.2																																																																																				PASS	0.517	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		4	24	4	24	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174254762	174254762	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr4:174254762C>A	ENST00000296503.5	-	2	912	c.39G>T	c.(37-39)atG>atT	p.M13I	HMGB2_ENST00000438704.2_Missense_Mutation_p.M13I|HMGB2_ENST00000446922.2_Missense_Mutation_p.M13I			P26583	HMGB2_HUMAN	high mobility group box 2	13					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.M13I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CGTACGAGGACATTTTGCCCC	0.602																																						uc011ckc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)ATG>ATT		high-mobility group box 2							77.0	79.0	78.0					4																	174254762		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254762C>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.39G>T	4.37:g.174254762C>A	ENSP00000296503:p.Met13Ile					HMGB2_uc003ita.3_Missense_Mutation_p.M13I|HMGB2_uc003itb.2_Missense_Mutation_p.M13I|HMGB2_uc003itc.2_Missense_Mutation_p.M13I	p.M13I	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	159	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	13			HMG box 1.		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.39G>T	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658343	0.67586	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.45	4.62	0.57501	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.79475	2.455	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.03887	-1.0995	10	0.56958	D	0.05	.	13.8553	0.63522	0.0:0.9257:0.0:0.0743	.	13	P26583	HMGB2_HUMAN	I	13	ENSP00000296503:M13I;ENSP00000393448:M13I;ENSP00000404912:M13I;ENSP00000423001:M13I	ENSP00000296503:M13I	M	-	3	0	HMGB2	174491337	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.689000	0.68234	1.322000	0.45245	-0.253000	0.11424	ATG		PASS	0.602	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		10	17	10	17	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41055934	41055934	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr5:41055934T>G	ENST00000399564.4	-	10	1393	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	315								p.M315L(1)									AAAAATTCCATCAGCTCTCCA	0.398																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(943-945)ATG>CTG		HEAT repeat family member 7B2							98.0	95.0	96.0					5																	41055934		1826	4084	5910	SO:0001583	missense	133558						binding	g.chr5:41055934T>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.943A>C	5.37:g.41055934T>G	ENSP00000382476:p.Met315Leu					HEATR7B2_uc003jmi.3_Intron	p.M315L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			10	1433	-			315			HEAT 4.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.943A>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	5.600	0.295489	0.10622	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.63580	-0.05	4.87	-7.2	0.01495	Armadillo-type fold (1);	0.992768	0.08183	N	0.985090	T	0.31420	0.0796	N	0.12502	0.225	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.43523	-0.9386	10	0.02654	T	1	.	8.5153	0.33242	0.0:0.371:0.4577:0.1713	.	315	Q7Z745	HTRB2_HUMAN	L	19;315	ENSP00000382476:M315L	ENSP00000296803:M19L	M	-	1	0	HEATR7B2	41091691	0.007000	0.16637	0.363000	0.25875	0.431000	0.31685	-1.966000	0.01509	-0.978000	0.03533	-0.648000	0.03929	ATG		PASS	0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	54	10	54	---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54555722	54555722	+	Silent	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr5:54555722A>G	ENST00000251636.5	-	26	4159	c.4011T>C	c.(4009-4011)gaT>gaC	p.D1337D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1337						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.D1337D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAAAACTGAATCAATGAGAA	0.373																																						uc003jpx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4009-4011)GAT>GAC		DEAH (Asp-Glu-Ala-His) box polypeptide 29							108.0	110.0	109.0					5																	54555722		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54555722A>G	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.4011T>C	5.37:g.54555722A>G						DHX29_uc010ivw.2_RNA	p.D1337D	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			26	4131	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1337					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.4011T>C	CCDS34158.1																																																																																				PASS	0.373	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		10	51	10	51	---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110809031	110809031	+	Silent	SNP	T	T	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr5:110809031T>C	ENST00000282356.4	+	8	1046	c.648T>C	c.(646-648)tgT>tgC	p.C216C	CAMK4_ENST00000512453.1_Silent_p.C216C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.C216C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTAGAGGTTGTGCCTATGGAC	0.338																																						uc011cvj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)	5						c.(646-648)TGT>TGC		calcium/calmodulin-dependent protein kinase IV							142.0	147.0	145.0					5																	110809031		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110809031T>C	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.648T>C	5.37:g.110809031T>C						CAMK4_uc003kpf.2_Silent_p.C216C|CAMK4_uc010jbv.2_Silent_p.C19C	p.C216C	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	9	747	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	216			Protein kinase.		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.648T>C	CCDS4103.1																																																																																				PASS	0.338	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		7	50	7	50	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564336	140564336	+	Silent	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr5:140564336G>A	ENST00000361016.2	+	1	3357	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	734					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.G734G(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCCAGGGCGTCTGGTGG	0.627																																						uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2200-2202)GGG>GGA		protocadherin beta 16 precursor							80.0	89.0	86.0					5																	140564336		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564336G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2202G>A	5.37:g.140564336G>A						PCDHB9_uc003liw.1_5'Flank	p.G734G	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3357	+			734			Cytoplasmic (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2202G>A	CCDS4251.1																																																																																				PASS	0.627	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		24	69	24	69	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212301	149212301	+	Nonsense_Mutation	SNP	C	C	A	rs75266799	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr5:149212301C>A	ENST00000309241.5	+	5	697	c.665C>A	c.(664-666)tCg>tAg	p.S222*	PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.S183*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.S222*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.S158*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	222					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S222*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CACCTCACCTCGGCACAGTGC	0.617																																						uc003lrc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(664-666)TCG>TAG		peroxisome proliferator-activated receptor							130.0	122.0	124.0					5																	149212301		2203	4300	6503	SO:0001587	stop_gained	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212301C>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.665C>A	5.37:g.149212301C>A	ENSP00000312649:p.Ser222*					PPARGC1B_uc003lrb.1_Nonsense_Mutation_p.S222*|PPARGC1B_uc003lrd.2_Nonsense_Mutation_p.S183*|PPARGC1B_uc003lrf.2_Nonsense_Mutation_p.S201*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.S201*	p.S222*	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	707	+			222					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Nonsense_Mutation	SNP	ENST00000309241.5	37	c.665C>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540835	0.85917	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9715	19.976	0.97309	0.0:1.0:0.0:0.0	.	.	.	.	X	183;222;222;158	.	ENSP00000312649:S222X	S	+	2	0	PPARGC1B	149192494	1.000000	0.71417	0.935000	0.37517	0.091000	0.18340	6.398000	0.73244	2.713000	0.92767	0.655000	0.94253	TCG		PASS	0.617	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		5	122	5	122	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7584770	7584770	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:7584770C>A	ENST00000379802.3	+	24	7616	c.7275C>A	c.(7273-7275)acC>acA	p.T2425T	DSP_ENST00000418664.2_Silent_p.T1826T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2425	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T2425T(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATCTTACCTATCTGCAAC	0.398																																						uc003mxp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(7273-7275)ACC>ACA		desmoplakin isoform I							92.0	97.0	95.0					6																	7584770		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584770C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7275C>A	6.37:g.7584770C>A						DSP_uc003mxq.1_Silent_p.T1826T	p.T2425T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7554	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2425			Plectin 11.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7275C>A	CCDS4501.1																																																																																				PASS	0.398	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		6	121	6	121	---	---	---	---
ADTRP	84830	broad.mit.edu	37	6	11723606	11723606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:11723606C>A	ENST00000414691.3	-	5	1044	c.634G>T	c.(634-636)Gag>Tag	p.E212*	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Nonsense_Mutation_p.E212*|ADTRP_ENST00000229583.5_Nonsense_Mutation_p.E230*	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E212*(1)									TTGAGCTTCTCTCCAAGTAGG	0.493																																						uc003nab.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(634-636)GAG>TAG		hypothetical protein LOC84830 isoform 2							177.0	176.0	176.0					6																	11723606		2203	4300	6503	SO:0001587	stop_gained	84830					integral to membrane		g.chr6:11723606C>A	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.634G>T	6.37:g.11723606C>A	ENSP00000404416:p.Glu212*					C6orf105_uc003naa.2_RNA|C6orf105_uc011dip.1_Nonsense_Mutation_p.E230*	p.E212*	NM_032744	NP_116133	Q96IZ2	CF105_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193)		5	922	-	Ovarian(93;0.0848)|Breast(50;0.0871)	all_hematologic(90;0.135)	212					B2R7T9|B4DV39|Q5THW1	Nonsense_Mutation	SNP	ENST00000414691.3	37	c.634G>T	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	40	8.527347	0.98850	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000503285;ENST00000379413	.	.	.	5.96	5.09	0.68999	.	0.097532	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.5815	10.8922	0.47002	0.0:0.9144:0.0:0.0856	.	.	.	.	X	212;230;73;212	.	ENSP00000229583:E230X	E	-	1	0	C6orf105	11831592	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.662000	0.46766	1.532000	0.49169	0.655000	0.94253	GAG		PASS	0.493	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		8	218	8	218	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12164614	12164614	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:12164614C>G	ENST00000379388.2	+	9	8409	c.8077C>G	c.(8077-8079)Cta>Gta	p.L2693V	HIVEP1_ENST00000541134.1_Missense_Mutation_p.L558V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2693					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L2693V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCACAGCACTACCGCGGAG	0.522																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(8077-8079)CTA>GTA		human immunodeficiency virus type I enhancer							42.0	47.0	45.0					6																	12164614		2190	4284	6474	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164614C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.8077C>G	6.37:g.12164614C>G	ENSP00000368698:p.Leu2693Val					HIVEP1_uc011diq.1_RNA	p.L2693V	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	8256	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2693					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.8077C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019709	0.02078	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.30981	3.02;1.51	5.23	3.26	0.37387	.	1.121620	0.07160	N	0.850474	T	0.06962	0.0177	L	0.29908	0.895	0.09310	N	1	B	0.30763	0.294	B	0.22386	0.039	T	0.30880	-0.9963	10	0.26408	T	0.33	0.835	4.2445	0.10665	0.2773:0.4981:0.0:0.2245	.	2693	P15822	ZEP1_HUMAN	V	2693;558;675	ENSP00000368698:L2693V;ENSP00000445617:L558V	ENSP00000368698:L2693V	L	+	1	2	HIVEP1	12272600	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.693000	0.25497	1.143000	0.42306	0.591000	0.81541	CTA		PASS	0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		10	38	10	38	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29364649	29364649	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:29364649A>T	ENST00000383555.2	+	1	234	c.173A>T	c.(172-174)tAt>tTt	p.Y58F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y58F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCCTTATGTATTTCTTCCTG	0.448																																						uc003nmf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)TAT>TTT		olfactory receptor, family 12, subfamily D,							112.0	113.0	112.0					6																	29364649		1510	2709	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364649A>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.173A>T	6.37:g.29364649A>T	ENSP00000373047:p.Tyr58Phe						p.Y58F	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	234	+			58			Helical; Name=2; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.173A>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.673900	0.29693	.	.	ENSG00000168787	ENST00000383555	T	0.14391	2.51	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.15219	0.0367	M	0.90977	3.165	0.36016	D	0.83841	P	0.46621	0.881	B	0.40134	0.32	T	0.22521	-1.0214	10	0.87932	D	0	.	12.8768	0.57994	1.0:0.0:0.0:0.0	.	58	P58182	O12D2_HUMAN	F	58	ENSP00000373047:Y58F	ENSP00000373047:Y58F	Y	+	2	0	OR12D2	29472628	1.000000	0.71417	0.998000	0.56505	0.058000	0.15608	4.373000	0.59537	1.699000	0.51192	0.338000	0.21704	TAT		PASS	0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			14	30	14	30	---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32818803	32818803	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:32818803C>G	ENST00000354258.4	-	4	1309	c.1148G>C	c.(1147-1149)gGa>gCa	p.G383A	TAP1_ENST00000425148.2_Missense_Mutation_p.G122A|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	383	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G383A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GGACACTGATCCCCAGAGCAT	0.527																																						uc003ocg.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1147-1149)GGA>GCA		transporter 1, ATP-binding cassette, sub-family							171.0	137.0	149.0					6																	32818803		1511	2708	4219	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818803C>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1148G>C	6.37:g.32818803C>G	ENSP00000346206:p.Gly383Ala					TAP1_uc011dqi.1_Missense_Mutation_p.G122A	p.G383A	NM_000593	NP_000584	Q03518	TAP1_HUMAN			4	1303	-			383			Lumenal (Potential).|ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1148G>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458978	0.26248	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.89270	-2.49;-2.49	4.51	-3.34	0.04943	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.640701	0.13799	N	0.361967	T	0.52191	0.1719	N	0.25144	0.715	0.27087	N	0.962941	B	0.06786	0.001	B	0.11329	0.006	T	0.48352	-0.9043	10	0.13470	T	0.59	-19.3755	1.6657	0.02801	0.1194:0.2528:0.2159:0.4118	.	383	Q03518	TAP1_HUMAN	A	383;122	ENSP00000346206:G383A;ENSP00000401919:G122A	ENSP00000346206:G383A	G	-	2	0	TAP1	32926781	0.199000	0.23386	0.319000	0.25293	0.864000	0.49448	-0.279000	0.08479	-1.130000	0.02914	-0.262000	0.10625	GGA		PASS	0.527	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		6	74	6	74	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725275	87725275	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr6:87725275G>A	ENST00000305344.5	+	2	926	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	75					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V75I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGCAGTGCTCGTCATGCCCCT	0.562																																						uc003pli.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(223-225)GTC>ATC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						178.0	145.0	156.0					6																	87725275		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725275G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.223G>A	6.37:g.87725275G>A	ENSP00000307766:p.Val75Ile						p.V75I	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	926	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	75			Helical; Name=2; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.223G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027467	0.75390	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.74315	-0.83;-0.83	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	D	0.84079	0.5393	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86962	0.2092	10	0.87932	D	0	.	17.3338	0.87274	0.0:0.0:1.0:0.0	.	75	P28566	5HT1E_HUMAN	I	75	ENSP00000307766:V75I;ENSP00000358597:V75I	ENSP00000307766:V75I	V	+	1	0	HTR1E	87781994	1.000000	0.71417	0.974000	0.42286	0.740000	0.42216	9.219000	0.95173	2.085000	0.62840	0.404000	0.27445	GTC		PASS	0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		24	60	24	60	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4900001	4900001	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:4900001C>A	ENST00000404991.1	-	1	1624	c.1438G>T	c.(1438-1440)Ggt>Tgt	p.G480C	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	480					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ATTTTCATACCCATCTCAAAC	0.388																																						uc003snk.2																			0				ovary(1)	1						c.(1441-1443)GGT>TGT		poly(A) polymerase beta (testis specific)							70.0	67.0	68.0					7																	4900001		2028	4214	6242	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900001C>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1438G>T	7.37:g.4900001C>A	ENSP00000384700:p.Gly480Cys					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.G481C	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1625	-		Ovarian(82;0.0175)	480					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1441G>T		.	.	.	.	.	.	.	.	.	.	C	16.21	3.057679	0.55325	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	T	0.73048	0.3537	M	0.79011	2.435	0.29908	N	0.823824	D	0.89917	1.0	D	0.87578	0.998	T	0.70332	-0.4901	8	0.87932	D	0	.	15.1372	0.72576	0.0:1.0:0.0:0.0	.	481	A4D1Z6	.	C	480	.	ENSP00000384700:G480C	G	-	1	0	PAPOLB	4866527	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.457000	0.66672	2.697000	0.92050	0.591000	0.81541	GGT		PASS	0.388	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		5	30	5	30	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18067280	18067280	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:18067280C>A	ENST00000506618.2	-	1	206	c.126G>T	c.(124-126)gtG>gtT	p.V42V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V42V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CATCAATTTCCACGCAGGTCT	0.498																																						uc003stz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(124-126)GTG>GTT		phosphoribosyl pyrophosphate synthetase 1-like							274.0	270.0	272.0					7																	18067280		2203	4300	6503	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067280C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.126G>T	7.37:g.18067280C>A							p.V42V	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	207	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		42					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.126G>T	CCDS47552.1																																																																																				PASS	0.498	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		7	225	7	225	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21938980	21938980	+	IGR	SNP	G	G	T	rs113653972	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:21938980G>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000409508.3_Missense_Mutation_p.R4359L|DNAH11_ENST00000328843.6_Missense_Mutation_p.R4366L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R4366L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGCGATGCCGAGAACTCGAT	0.502																																						uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13096-13098)CGA>CTA		dynein, axonemal, heavy chain 11							186.0	184.0	184.0					7																	21938980		1963	4151	6114	SO:0001628	intergenic_variant	8701	Kartagener_syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21938980G>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21938980G>T							p.R4366L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			81	13128	+			4366					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13097G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582426	0.86748	.	.	ENSG00000105877	ENST00000328843	T	0.09255	3.0	5.48	5.48	0.80851	Dynein heavy chain (1);	0.135418	0.50627	D	0.000106	T	0.32406	0.0828	.	.	.	0.52099	D	0.999948	D	0.64830	0.994	D	0.63283	0.913	T	0.00964	-1.1498	9	0.48119	T	0.1	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	4366	Q96DT5	DYH11_HUMAN	L	4366	ENSP00000330671:R4366L	ENSP00000330671:R4366L	R	+	2	0	DNAH11	21905505	0.196000	0.23350	1.000000	0.80357	0.845000	0.48019	1.377000	0.34317	2.576000	0.86940	0.655000	0.94253	CGA		PASS	0.502	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		5	182	5	182	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30818085	30818085	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:30818085G>T	ENST00000265299.6	+	2	178	c.101G>T	c.(100-102)cGc>cTc	p.R34L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	34								p.R34L(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCAGGAACGCCCACGCTCT	0.423																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)CGC>CTC		hypothetical protein LOC84182							91.0	92.0	92.0					7																	30818085		1986	4172	6158	SO:0001583	missense	84182							g.chr7:30818085G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.101G>T	7.37:g.30818085G>T	ENSP00000265299:p.Arg34Leu					FAM188B_uc010kwe.2_Missense_Mutation_p.R5L	p.R34L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			2	178	+			34					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.101G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	4.868	0.161307	0.09287	.	.	ENSG00000106125	ENST00000265299	T	0.25085	1.82	4.43	3.54	0.40534	.	0.188560	0.47455	D	0.000229	T	0.18759	0.0450	L	0.39020	1.185	0.32055	N	0.59648	B	0.15141	0.012	B	0.12156	0.007	T	0.10314	-1.0635	10	0.87932	D	0	-0.16	7.6024	0.28083	0.1136:0.0:0.8864:0.0	.	34	Q4G0A6	F188B_HUMAN	L	34	ENSP00000265299:R34L	ENSP00000265299:R34L	R	+	2	0	FAM188B	30784610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.721000	0.47260	2.469000	0.83416	0.561000	0.74099	CGC		PASS	0.423	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		4	81	4	81	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37901736	37901736	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:37901736C>T	ENST00000199447.4	+	7	749	c.377C>T	c.(376-378)gCt>gTt	p.A126V	NME8_ENST00000440017.1_Missense_Mutation_p.A126V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	126					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.A126V(1)									GGTGAAATGGCTCGACCTCAG	0.358																																						uc003tfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(376-378)GCT>GTT		thioredoxin domain containing 3							53.0	57.0	56.0					7																	37901736		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37901736C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.377C>T	7.37:g.37901736C>T	ENSP00000199447:p.Ala126Val						p.A126V	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			7	749	+			126					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.377C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154938	0.38021	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.36157	1.27;1.27	5.63	-10.2	0.00374	.	2.366740	0.01442	N	0.015148	T	0.14098	0.0341	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.12837	-1.0532	10	0.33940	T	0.23	1.3719	5.6427	0.17572	0.3886:0.3754:0.0:0.236	.	126	Q8N427	TXND3_HUMAN	V	126;71;71;126	ENSP00000199447:A126V;ENSP00000397063:A126V	ENSP00000199447:A126V	A	+	2	0	TXNDC3	37868261	0.000000	0.05858	0.050000	0.19076	0.986000	0.74619	-2.643000	0.00862	-1.981000	0.00989	-0.367000	0.07326	GCT		PASS	0.358	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		4	20	4	20	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205276	100205276	+	Silent	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:100205276G>A	ENST00000223061.5	+	8	1309	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	343	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.V343V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGCGACAGTGAAGTCCATGG	0.562																																						uc003uvo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1027-1029)GTG>GTA		procollagen C-endopeptidase enhancer							133.0	135.0	134.0					7																	100205276		2203	4300	6503	SO:0001819	synonymous_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205276G>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1029G>A	7.37:g.100205276G>A						PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	p.V343V	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			8	1227	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		343			NTR.		B2R9E1|O14550	Silent	SNP	ENST00000223061.5	37	c.1029G>A	CCDS5700.1																																																																																				PASS	0.562	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		12	83	12	83	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100373092	100373092	+	RNA	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:100373092C>T	ENST00000348028.3	+	0	6086				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1973A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGATCAGTGCCAAGCATGAGA	0.552																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5920-5922)GCC>GCT		zonadhesin isoform 3							57.0	56.0	57.0					7																	100373092		2049	4180	6229			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373092C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373092C>T						ZAN_uc003uwk.2_Silent_p.A1974A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A61A	p.A1974A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		33	6087	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1974			Extracellular (Potential).|VWFD 3.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.5922C>T																																																																																					PASS	0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	42	7	42	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683976	100683976	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:100683976C>A	ENST00000306151.4	+	3	9343	c.9279C>A	c.(9277-9279)acC>acA	p.T3093T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3093T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGGTACCAGCATGCCAA	0.493																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9277-9279)ACC>ACA		mucin 17 precursor							261.0	264.0	263.0					7																	100683976		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683976C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9279C>A	7.37:g.100683976C>A						MUC17_uc010lho.1_RNA	p.T3093T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9332	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3093			Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9279C>A	CCDS34711.1																																																																																				PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	364	9	364	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518998	113518998	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:113518998C>T	ENST00000284601.3	-	4	2217	c.2149G>A	c.(2149-2151)Gct>Act	p.A717T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	717					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.A717T(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCATGATCAGCTAGAGAAGAC	0.408																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2149-2151)GCT>ACT		protein phosphatase 1, regulatory (inhibitor)							193.0	186.0	189.0					7																	113518998		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518998C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2149G>A	7.37:g.113518998C>T	ENSP00000284601:p.Ala717Thr						p.A717T	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2180	-			717					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2149G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068100	0.55539	.	.	ENSG00000154415	ENST00000284601	T	0.27557	1.66	5.81	4.93	0.64822	.	0.179734	0.39687	N	0.001297	T	0.50837	0.1639	M	0.71581	2.175	0.30803	N	0.739636	D	0.76494	0.999	D	0.67548	0.952	T	0.59369	-0.7467	10	0.87932	D	0	-3.4886	10.4411	0.44466	0.1417:0.7873:0.0:0.071	.	717	Q16821	PPR3A_HUMAN	T	717	ENSP00000284601:A717T	ENSP00000284601:A717T	A	-	1	0	PPP1R3A	113306234	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.363000	0.34159	1.468000	0.48064	0.650000	0.86243	GCT		PASS	0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	52	12	52	---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123508765	123508765	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:123508765G>T	ENST00000223026.4	+	3	1076	c.438G>T	c.(436-438)tgG>tgT	p.W146C	HYAL4_ENST00000476325.1_Missense_Mutation_p.W146C	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	146					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.W146C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTATAGATTGGGAATATTGGC	0.393																																						uc003vlc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(436-438)TGG>TGT		hyaluronoglucosaminidase 4							82.0	87.0	86.0					7																	123508765		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508765G>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.438G>T	7.37:g.123508765G>T	ENSP00000223026:p.Trp146Cys					HYAL4_uc011knz.1_Missense_Mutation_p.W146C	p.W146C	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	1076	+			146			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.438G>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994190	0.35226	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.30714	1.52;1.52	5.73	4.85	0.62838	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.93462	3.42	0.80722	D	1	D;D	0.57571	0.975;0.98	P;P	0.54965	0.654;0.765	T	0.68119	-0.5493	9	.	.	.	-10.288	11.0321	0.47779	0.0677:0.0:0.8033:0.129	.	146;146	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	C	146	ENSP00000223026:W146C;ENSP00000417186:W146C	.	W	+	3	0	HYAL4	123296001	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	3.462000	0.53042	1.423000	0.47198	-0.140000	0.14226	TGG		PASS	0.393	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		6	60	6	60	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135078943	135078943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:135078943C>A	ENST00000315544.5	-	10	1633	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	CNOT4_ENST00000428680.2_Nonsense_Mutation_p.G449*|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.G449*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.G449*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.G452*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.G452*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	452					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G452*(3)|p.G449*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGCAGGAATCCAGAGCCTGGA	0.507																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1																			4	Substitution - Nonsense(4)		lung(4)		0						c.(1354-1356)GGA>TGA		CCR4-NOT transcription complex, subunit 4							120.0	127.0	125.0					7																	135078943		1981	4166	6147	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078943C>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1354G>T	7.37:g.135078943C>A	ENSP00000326731:p.Gly452*					CNOT4_uc003vss.2_Nonsense_Mutation_p.G449*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.G449*|CNOT4_uc003vst.2_Nonsense_Mutation_p.G452*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.G449*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.G452*	p.G452*	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			10	1661	-			452					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.1354G>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	C	40	8.048937	0.98627	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	.	.	.	5.91	5.91	0.95273	.	0.194126	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.1731	19.2867	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	452;449;452;452;449;449;452	.	ENSP00000262563:G452X	G	-	1	0	CNOT4	134729483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.359000	0.66074	2.793000	0.96121	0.655000	0.94253	GGA		PASS	0.507	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		5	49	5	49	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6371296	6371296	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:6371296G>A	ENST00000325203.5	-	7	1576	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	ANGPT2_ENST00000415216.1_Missense_Mutation_p.R367C|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.R316C|ANGPT2_ENST00000523120.1_Missense_Mutation_p.R367C			O15123	ANGP2_HUMAN	angiopoietin 2	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)	p.R368C(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGCACATAGCGTTGCTGATTA	0.363																																						uc003wqj.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	upper_aerodigestive_tract(1)	1						c.(1102-1104)CGC>TGC		angiopoietin 2 isoform a precursor							105.0	106.0	105.0					8																	6371296		2203	4300	6503	SO:0001583	missense	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6371296G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1102C>T	8.37:g.6371296G>A	ENSP00000314897:p.Arg368Cys					MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.R367C|ANGPT2_uc010lri.2_Missense_Mutation_p.R316C|ANGPT2_uc003wql.3_Missense_Mutation_p.R367C	p.R368C	NM_001147	NP_001138	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	7	1431	-		Hepatocellular(245;0.0663)	368			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	c.1102C>T	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774366	0.49786	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.77229	2.01;2.01;2.01;-1.08	4.77	2.89	0.33648	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.424183	0.26560	N	0.023693	T	0.64193	0.2576	L	0.41632	1.29	0.19945	N	0.999941	P;P;P;P	0.43909	0.821;0.734;0.821;0.734	B;B;B;B	0.36134	0.218;0.189;0.218;0.072	T	0.57906	-0.7730	10	0.59425	D	0.04	.	7.8025	0.29183	0.0:0.1588:0.5142:0.327	.	316;367;367;368	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	C	368;367;316;367	ENSP00000314897:R368C;ENSP00000400782:R367C;ENSP00000343517:R316C;ENSP00000428023:R367C	ENSP00000314897:R368C	R	-	1	0	ANGPT2	6358704	0.007000	0.16637	0.049000	0.19019	0.945000	0.59286	1.456000	0.35201	0.476000	0.27440	0.557000	0.71058	CGC		PASS	0.363	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		7	71	7	71	---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998700	8998700	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:8998700G>T	ENST00000310455.3	-	2	612	c.462C>A	c.(460-462)ctC>ctA	p.L154L	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.L154L	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	154	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.L154L(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTCAAATGCGAGGTTCTGAA	0.488																																						uc003wsn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(460-462)CTC>CTA		protein phosphatase 1, regulatory (inhibitor)							198.0	169.0	179.0					8																	8998700		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998700G>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.462C>A	8.37:g.8998700G>T						PPP1R3B_uc003wso.3_Silent_p.L153L	p.L154L	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	627	-			154			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.462C>A	CCDS5973.1																																																																																				PASS	0.488	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		5	137	5	137	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59852027	59852027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:59852027G>T	ENST00000361421.1	-	3	465	c.245C>A	c.(244-246)tCg>tAg	p.S82*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	82						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S82*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGCACCAGCGAGTGGTCTGG	0.478																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(244-246)TCG>TAG		thymus high mobility group box protein TOX							132.0	115.0	120.0					8																	59852027		2203	4300	6503	SO:0001587	stop_gained	9760					nucleus	DNA binding	g.chr8:59852027G>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.245C>A	8.37:g.59852027G>T	ENSP00000354842:p.Ser82*						p.S82*	NM_014729	NP_055544	O94900	TOX_HUMAN			3	466	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	82					Q96AV5	Nonsense_Mutation	SNP	ENST00000361421.1	37	c.245C>A	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	G	37	6.436200	0.97564	.	.	ENSG00000198846	ENST00000361421	.	.	.	5.42	5.42	0.78866	.	0.129585	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2089	0.93746	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	.	S	-	2	0	TOX	60014581	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.385000	0.73182	2.557000	0.86248	0.591000	0.81541	TCG		PASS	0.478	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		4	36	4	36	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72958758	72958758	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:72958758G>A	ENST00000262209.4	-	17	2258	c.2051C>T	c.(2050-2052)aCa>aTa	p.T684I	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	684					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.T684I(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)	GTTGAGGGCTGTAAGCGGTTC	0.289																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2050-2052)ACA>ATA		ankyrin-like protein 1	Menthol(DB00825)						172.0	184.0	180.0					8																	72958758		2203	4299	6502	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72958758G>A	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.2051C>T	8.37:g.72958758G>A	ENSP00000262209:p.Thr684Ile					uc011lff.1_Intron|uc003xyy.2_Intron	p.T684I	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2226	-			684			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2051C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	5.246	0.230813	0.09969	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.78364	-1.17;-1.17	4.65	0.732	0.18283	.	0.447734	0.26069	N	0.026524	T	0.64918	0.2642	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49597	-0.8923	10	0.30078	T	0.28	-1.174	4.6243	0.12470	0.2225:0.0:0.516:0.2615	.	684	O75762	TRPA1_HUMAN	I	536;684	ENSP00000428151:T536I;ENSP00000262209:T684I	ENSP00000262209:T684I	T	-	2	0	TRPA1	73121312	0.040000	0.19996	0.004000	0.12327	0.045000	0.14185	1.821000	0.39041	0.141000	0.18875	-0.263000	0.10527	ACA		PASS	0.289	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		4	23	4	23	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618422	77618422	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:77618422G>A	ENST00000521891.2	+	2	2547	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R700H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R700H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R700H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	700					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R700H(1)|p.R700L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACCCTTCCGTTGTGAGGTT	0.502										HNSCC(33;0.089)																												uc003yav.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2098-2100)CGT>CAT		zinc finger homeodomain 4							58.0	60.0	59.0					8																	77618422		2192	4297	6489	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618422G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2099G>A	8.37:g.77618422G>A	ENSP00000430497:p.Arg700His	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.R700H|ZFHX4_uc003yau.1_Missense_Mutation_p.R700H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R700H	p.R700H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2486	+			700			C2H2-type 3.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2099G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252839	0.59212	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	U	0.000366	T	0.35158	0.0922	N	0.21324	0.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.997;1.0	T	0.20907	-1.0261	10	0.87932	D	0	.	18.7896	0.91968	0.0:0.0:1.0:0.0	.	700;700;700;700	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	700	ENSP00000430497:R700H;ENSP00000399605:R700H;ENSP00000050961:R700H;ENSP00000430848:R700H	ENSP00000050961:R700H	R	+	2	0	ZFHX4	77780977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.592000	0.98245	2.737000	0.93849	0.637000	0.83480	CGT		PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	45	7	45	---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121644768	121644768	+	Silent	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:121644768C>T	ENST00000395601.3	-	4	1326	c.912G>A	c.(910-912)gtG>gtA	p.V304V	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.V304V	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	304					muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.V304V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTCAGCAATCACTCGGGTCA	0.527																																						uc010mdg.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)	5						c.(910-912)GTG>GTA		basic beta 1 syntrophin							107.0	90.0	96.0					8																	121644768		2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644768C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.912G>A	8.37:g.121644768C>T						SNTB1_uc003ype.2_Silent_p.V304V	p.V304V	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1138	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		304					A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.912G>A	CCDS6334.1																																																																																				PASS	0.527	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		7	19	7	19	---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134276808	134276808	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr8:134276808G>T	ENST00000414097.2	-	4	1054	c.187C>A	c.(187-189)Cat>Aat	p.H63N	NDRG1_ENST00000323851.7_Missense_Mutation_p.H63N|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Missense_Mutation_p.H63N	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	63					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)	p.H63N(1)	NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCGATGTCATGGTAGGTGAGG	0.562			T	ERG	prostate																																	uc003yuh.2				Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(187-189)CAT>AAT		N-myc downstream regulated 1							168.0	139.0	149.0					8																	134276808		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134276808G>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.187C>A	8.37:g.134276808G>T	ENSP00000404854:p.His63Asn					NDRG1_uc003yug.2_Missense_Mutation_p.H63N|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	p.H63N	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	773	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		63					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.187C>A	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790893	0.90367	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;1.89;0.25;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86215	0.1627	10	0.72032	D	0.01	-21.6539	18.0969	0.89493	0.0:0.0:1.0:0.0	.	63	Q92597	NDRG1_HUMAN	N	63;63;63;80;63;63;63;74;63;117	ENSP00000319977:H63N;ENSP00000347028:H63N;ENSP00000404854:H63N;ENSP00000428345:H80N;ENSP00000429994:H63N;ENSP00000429272:H63N;ENSP00000428384:H63N;ENSP00000429840:H74N;ENSP00000429524:H63N;ENSP00000428991:H117N	ENSP00000319977:H63N	H	-	1	0	NDRG1	134345990	1.000000	0.71417	0.922000	0.36590	0.991000	0.79684	9.079000	0.94032	2.622000	0.88805	0.561000	0.74099	CAT		PASS	0.562	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			5	75	5	75	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7174612	7174612	+	Silent	SNP	G	G	T	rs370537760		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:7174612G>T	ENST00000381309.3	+	22	3619	c.3054G>T	c.(3052-3054)ggG>ggT	p.G1018G	KDM4C_ENST00000442236.2_Silent_p.G763G|KDM4C_ENST00000428870.2_Silent_p.G705G	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1018					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.G1018G(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTATCCAAGGGGAGAGAAAGA	0.448																																						uc003zkh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3052-3054)GGG>GGT		jumonji domain containing 2C isoform 1							153.0	152.0	153.0					9																	7174612		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7174612G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3054G>T	9.37:g.7174612G>T						KDM4C_uc011lmk.1_Silent_p.G763G|KDM4C_uc011lml.1_Silent_p.G705G	p.G1018G	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			22	3634	+			1018					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.3054G>T	CCDS6471.1																																																																																				PASS	0.448	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		8	180	8	180	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18928612	18928612	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:18928612G>T	ENST00000380534.4	-	4	1142	c.863C>A	c.(862-864)tCc>tAc	p.S288Y	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.S96Y	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	288								p.S288Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGGAGCTTTGGAGAACATCCG	0.542																																						uc003zni.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(862-864)TCC>TAC		hypothetical protein LOC158297							109.0	104.0	106.0					9																	18928612		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928612G>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.863C>A	9.37:g.18928612G>T	ENSP00000369907:p.Ser288Tyr					FAM154A_uc010mip.1_Missense_Mutation_p.S96Y	p.S288Y	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1141	-			288					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.863C>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.581127	0.00129	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.23950	2.2;1.88	5.09	2.24	0.28232	.	0.751400	0.12309	N	0.480367	T	0.22244	0.0536	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.22347	-1.0219	10	0.42905	T	0.14	-4.7234	6.6747	0.23087	0.1556:0.0:0.7:0.1444	.	288	Q8IYX7	F154A_HUMAN	Y	288;96	ENSP00000369907:S288Y;ENSP00000438823:S96Y	ENSP00000369907:S288Y	S	-	2	0	FAM154A	18918612	0.173000	0.23056	0.143000	0.22291	0.179000	0.23085	0.354000	0.20146	0.299000	0.22661	-0.143000	0.13931	TCC		PASS	0.542	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		5	55	5	55	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(328-330)TGG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	541	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		PASS	0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	12	7	12	---	---	---	---
GNE	10020	broad.mit.edu	37	9	36227385	36227385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:36227385C>A	ENST00000539815.1	-	6	1181	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	GNE_ENST00000377902.5_Nonsense_Mutation_p.E381*|GNE_ENST00000543356.2_Nonsense_Mutation_p.E376*|GNE_ENST00000539208.1_Nonsense_Mutation_p.E271*|GNE_ENST00000396594.3_Nonsense_Mutation_p.E412*|GNE_ENST00000447283.2_Nonsense_Mutation_p.E381*			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	381					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)	p.E381*(1)|p.E412*(1)|p.E376*(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGCAGTGGCTCTTGAAGATCG	0.358																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2																			3	Substitution - Nonsense(3)		lung(3)		0						c.(1141-1143)GAG>TAG		UDP-N-acetylglucosamine-2-epimerase/N-							70.0	68.0	69.0					9																	36227385		2203	4300	6503	SO:0001587	stop_gained	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36227385C>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1141G>T	9.37:g.36227385C>A	ENSP00000439155:p.Glu381*					CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Nonsense_Mutation_p.E381*|GNE_uc011lpl.1_Nonsense_Mutation_p.E271*|GNE_uc010mli.2_Nonsense_Mutation_p.E412*|GNE_uc010mlj.2_Nonsense_Mutation_p.E376*	p.E381*	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1356	-			381			UDP-N-acetylglucosamine 2-epimerase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Nonsense_Mutation	SNP	ENST00000539815.1	37	c.1141G>T	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485098	0.97603	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-21.8724	17.887	0.88858	0.0:1.0:0.0:0.0	.	.	.	.	X	381;412;376;381;353;271;381	.	ENSP00000340770:E376X	E	-	1	0	GNE	36217385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.454000	0.66651	2.824000	0.97209	0.655000	0.94253	GAG		PASS	0.358	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		7	38	7	38	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606846	84606846	+	Silent	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:84606846A>G	ENST00000344803.2	+	4	1508	c.1461A>G	c.(1459-1461)ccA>ccG	p.P487P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	487					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P487P(2)									AGCAGCCTCCACACTCTAAAT	0.453																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1459-1461)CCA>CCG		hypothetical protein LOC389763							79.0	71.0	74.0					9																	84606846		1990	4189	6179	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84606846A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1461A>G	9.37:g.84606846A>G							p.P487P	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1508	+			487						Silent	SNP	ENST00000344803.2	37	c.1461A>G	CCDS47986.1																																																																																				PASS	0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		18	85	18	85	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104356757	104356757	+	Intron	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:104356757G>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.S152S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.S152S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATTCCTCAAAGGATATCTTCC	0.502																																						uc004bbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(454-456)TCC>TCA		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						124.0	104.0	111.0					9																	104356757		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356757G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15115C>A	9.37:g.104356757G>T						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.S152S	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	527	-		Acute lymphoblastic leukemia(62;0.0527)	149			EF-hand 4.|4.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.456C>A	CCDS6758.1																																																																																				PASS	0.502	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			5	50	5	50	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117798447	117798447	+	Silent	SNP	T	T	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:117798447T>C	ENST00000350763.4	-	21	5997	c.5586A>G	c.(5584-5586)gaA>gaG	p.E1862E	TNC_ENST00000537320.1_Silent_p.E1225E|TNC_ENST00000346706.3_Silent_p.E1316E|TNC_ENST00000542877.1_Silent_p.E1499E|TNC_ENST00000345230.3_Silent_p.E1225E|TNC_ENST00000341037.4_Silent_p.E1680E|TNC_ENST00000535648.1_Silent_p.E1407E|TNC_ENST00000340094.3_Silent_p.E1498E|TNC_ENST00000423613.2_Silent_p.E1589E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1862	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1862E(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGTGTGTATTCCGTGGCAG	0.507																																						uc004bjj.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5584-5586)GAA>GAG		tenascin C precursor							170.0	147.0	155.0					9																	117798447		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117798447T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5586A>G	9.37:g.117798447T>C						TNC_uc010mvf.2_Silent_p.E1589E	p.E1862E	NM_002160	NP_002151	P24821	TENA_HUMAN			21	5948	-			1862			Fibronectin type-III 14.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.5586A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	9.292	1.050937	0.19827	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.38	-10.0	0.00425	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56817	-0.7916	4	.	.	.	.	8.653	0.34046	0.096:0.5843:0.097:0.2227	.	.	.	.	V	425	.	.	I	-	1	0	TNC	116838268	0.001000	0.12720	0.353000	0.25747	0.956000	0.61745	-0.863000	0.04259	-1.411000	0.02032	-0.408000	0.06270	ATA		PASS	0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		16	54	16	54	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131760858	131760858	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:131760858C>A	ENST00000372577.2	+	32	3492	c.3471C>A	c.(3469-3471)tcC>tcA	p.S1157S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1157					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S1157S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCTTGGCTCCATGAAGTGCA	0.572																																						uc004bws.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(3469-3471)TCC>TCA		nucleoporin 188kDa							144.0	113.0	124.0					9																	131760858		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760858C>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3471C>A	9.37:g.131760858C>A						NUP188_uc004bwu.2_Silent_p.S500S	p.S1157S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			32	3493	+			1157					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.3471C>A	CCDS35156.1																																																																																				PASS	0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			5	63	5	63	---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131898812	131898812	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:131898812G>T	ENST00000337738.1	+	8	995	c.728G>T	c.(727-729)gGa>gTa	p.G243V	PPP2R4_ENST00000357197.4_Missense_Mutation_p.G179V|PPP2R4_ENST00000393370.2_Missense_Mutation_p.G208V|PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000452489.2_Missense_Mutation_p.G243V|PPP2R4_ENST00000423100.1_5'Flank|PPP2R4_ENST00000358994.4_Missense_Mutation_p.G208V|PPP2R4_ENST00000355007.3_Missense_Mutation_p.G166V|PPP2R4_ENST00000348141.5_Missense_Mutation_p.G214V|PPP2R4_ENST00000347048.4_Intron	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	243					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)	p.G243V(1)		breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGCAGCCAGGGAGTGTGGGGT	0.562																																					Colon(158;2158 2504 4450 20433)	uc004bxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(727-729)GGA>GTA		protein phosphatase 2A, regulatory subunit B'							174.0	185.0	181.0					9																	131898812		2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131898812G>T	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.728G>T	9.37:g.131898812G>T	ENSP00000337448:p.Gly243Val					PPP2R4_uc004bxl.1_Missense_Mutation_p.G208V|PPP2R4_uc011mbo.1_Missense_Mutation_p.G243V|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.G208V|PPP2R4_uc004bxo.1_Missense_Mutation_p.G166V|PPP2R4_uc011mbp.1_Missense_Mutation_p.G179V|PPP2R4_uc011mbq.1_Missense_Mutation_p.G166V|PPP2R4_uc010mys.1_Missense_Mutation_p.G173V|PPP2R4_uc011mbr.1_5'Flank	p.G243V	NM_178001	NP_821068	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	8	995	+		Medulloblastoma(224;0.235)	243					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.728G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.951870|4.951870	0.92660|0.92660	.|.	.|.	ENSG00000119383|ENSG00000119383	ENST00000411917|ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000417728	.|T;T;T;T;T;T;T;T;T;T	.|0.74947	.|-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;0.38	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.049048	.|0.85682	.|D	.|0.000000	.|D	.|0.91030	.|0.7178	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.996;0.999;0.995;0.998;0.985	.|D	.|0.93656	.|0.6977	.|10	.|0.87932	.|D	.|0	-15.9427|-15.9427	16.8117|16.8117	0.85722|0.85722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|166;179;243;166;243;208	.|B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2	.|.;.;.;.;PTPA_HUMAN;.	X|V	13|208;243;208;243;214;243;179;243;166;173	.|ENSP00000351885:G208V;ENSP00000395499:G243V;ENSP00000377036:G208V;ENSP00000337448:G243V;ENSP00000335200:G214V;ENSP00000394338:G243V;ENSP00000349726:G179V;ENSP00000406997:G243V;ENSP00000347109:G166V;ENSP00000403542:G173V	.|ENSP00000337448:G243V	E|G	+|+	1|2	0|0	PPP2R4|PPP2R4	130938633|130938633	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.993000|0.993000	0.82548|0.82548	9.429000|9.429000	0.97481|0.97481	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	GAG|GGA		PASS	0.562	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		7	141	7	141	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88259869	88259869	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr10:88259869C>A	ENST00000298767.5	-	3	1603	c.1131G>T	c.(1129-1131)atG>atT	p.M377I		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	377	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.M377I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGCTGCGTTCCATAGTATCCT	0.438																																						uc001kdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1129-1131)ATG>ATT		wings apart-like homolog							99.0	93.0	95.0					10																	88259869		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259869C>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1131G>T	10.37:g.88259869C>A	ENSP00000298767:p.Met377Ile					WAPAL_uc001kdn.2_Missense_Mutation_p.M420I|WAPAL_uc009xsw.2_Missense_Mutation_p.M377I	p.M377I	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1573	-			377			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1131G>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612627	0.28712	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.28454	1.61	5.5	5.5	0.81552	.	0.105897	0.64402	D	0.000004	T	0.28433	0.0703	L	0.37630	1.12	0.80722	D	1	B;B;B	0.16603	0.002;0.004;0.018	B;B;B	0.17722	0.002;0.006;0.019	T	0.04268	-1.0964	10	0.22706	T	0.39	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	377;377;420	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	I	462;377;462	ENSP00000298767:M377I	ENSP00000298767:M377I	M	-	3	0	WAPAL	88249849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.310000	0.43708	2.568000	0.86640	0.650000	0.86243	ATG		PASS	0.438	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		4	19	4	19	---	---	---	---
ANO9	338440	broad.mit.edu	37	11	418531	418531	+	Nonsense_Mutation	SNP	G	G	T	rs144928396	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:418531G>T	ENST00000332826.6	-	23	2273	c.2189C>A	c.(2188-2190)tCg>tAg	p.S730*	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	730					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.S730*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GTTCTTCACCGACTGAGGGAT	0.637																																						uc001lpi.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2188-2190)TCG>TAG		tumor protein p53 inducible protein 5							111.0	99.0	103.0					11																	418531		2203	4300	6503	SO:0001587	stop_gained	338440					chloride channel complex	chloride channel activity	g.chr11:418531G>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2189C>A	11.37:g.418531G>T	ENSP00000332788:p.Ser730*					SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Nonsense_Mutation_p.S423*|ANO9_uc010qvv.1_Nonsense_Mutation_p.S586*	p.S730*	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			23	2274	-			730			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Nonsense_Mutation	SNP	ENST00000332826.6	37	c.2189C>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	22.2	4.253674	0.80135	.	.	ENSG00000185101	ENST00000332826	.	.	.	3.56	-3.95	0.04118	.	7.153740	0.00732	N	0.000951	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	0.4413	0.00487	0.2248:0.1789:0.2442:0.352	.	.	.	.	X	730	.	ENSP00000332788:S730X	S	-	2	0	ANO9	408531	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.089000	0.15002	-0.664000	0.05324	0.478000	0.44815	TCG		PASS	0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		5	78	5	78	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1015965	1015965	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:1015965C>A	ENST00000421673.2	-	31	6886	c.6836G>T	c.(6835-6837)cGa>cTa	p.R2279L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2279	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.R2279L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGAACTCGGGTGGTGAG	0.627																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(6835-6837)CGA>CTA		mucin 6, gastric							139.0	157.0	151.0					11																	1015965		2138	4230	6368	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1015965C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6836G>T	11.37:g.1015965C>A	ENSP00000406861:p.Arg2279Leu						p.R2279L	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6887	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2279			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6836G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159723	0.21454	.	.	ENSG00000184956	ENST00000421673	T	0.19394	2.15	2.67	-5.33	0.02713	.	.	.	.	.	T	0.09686	0.0238	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17107	-1.0380	9	0.31617	T	0.26	.	3.4253	0.07408	0.237:0.4906:0.1194:0.153	.	2279	Q6W4X9	MUC6_HUMAN	L	2279	ENSP00000406861:R2279L	ENSP00000406861:R2279L	R	-	2	0	MUC6	1005965	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.861000	0.00348	-3.028000	0.00267	-0.404000	0.06349	CGA		PASS	0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		6	94	6	94	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1256581	1256581	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:1256581G>A	ENST00000529681.1	+	23	2876	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	MUC5B_ENST00000447027.1_Missense_Mutation_p.E943K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	940	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.E940K(1)|p.E943K(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)		CATCGTCACCGAGAACATCCC	0.657																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(4795-4797)GAG>AAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							54.0	61.0	58.0					11																	1256581		2114	4220	6334	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256581G>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.2818G>A	11.37:g.1256581G>A	ENSP00000436812:p.Glu940Lys					MUC5B_uc009yct.1_Missense_Mutation_p.E940K|MUC5B_uc001ltb.2_Missense_Mutation_p.E943K|MUC5B_uc001lta.2_Missense_Mutation_p.E608K	p.E1599K	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)	39	4921	+		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)	940			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4795G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273694	0.40194	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.56275	0.47;0.47	4.4	4.4	0.53042	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.69531	0.3121	L	0.58583	1.82	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73936	-0.3825	9	0.87932	D	0	.	17.1837	0.86861	0.0:0.0:1.0:0.0	.	940;1599;943	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	K	940;943;941;976	ENSP00000436812:E940K;ENSP00000415793:E943K	ENSP00000343037:E941K	E	+	1	0	MUC5B	1213157	1.000000	0.71417	0.903000	0.35520	0.031000	0.12232	9.519000	0.98025	2.274000	0.75844	0.561000	0.74099	GAG		PASS	0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	17	5	17	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332440	17332440	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:17332440G>T	ENST00000529010.1	+	7	771	c.552G>T	c.(550-552)aaG>aaT	p.K184N	NUCB2_ENST00000323688.6_Missense_Mutation_p.K184N|NUCB2_ENST00000458064.2_Missense_Mutation_p.K184N	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	184						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.K184N(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAATGATGAAGGAACATGAAA	0.289																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)AAG>AAT		nucleobindin 2 precursor							71.0	70.0	70.0					11																	17332440		1795	4035	5830	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332440G>T	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.552G>T	11.37:g.17332440G>T	ENSP00000436455:p.Lys184Asn					NUCB2_uc001mms.1_Missense_Mutation_p.K185N|NUCB2_uc001mmt.1_Missense_Mutation_p.K184N|NUCB2_uc001mmv.1_Missense_Mutation_p.K184N|NUCB2_uc009ygz.2_Missense_Mutation_p.K184N	p.K184N	NM_005013	NP_005004	P80303	NUCB2_HUMAN			7	797	+			184			By similarity.		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.552G>T	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728597	0.69074	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000458064	T;T;T	0.36340	1.26;1.27;1.34	5.53	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.989;0.989	T	0.58451	-0.7634	10	0.87932	D	0	-19.2993	9.422	0.38557	0.4237:0.0:0.5763:0.0	.	184;184;184	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	N	184	ENSP00000320168:K184N;ENSP00000436455:K184N;ENSP00000408702:K184N	ENSP00000320168:K184N	K	+	3	2	NUCB2	17289016	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.352000	0.44080	0.095000	0.17434	0.655000	0.94253	AAG		PASS	0.289	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		5	57	5	57	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21581914	21581914	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:21581914G>C	ENST00000357134.5	+	17	2118	c.1966G>C	c.(1966-1968)Gtc>Ctc	p.V656L	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000298925.5_Missense_Mutation_p.V684L|NELL1_ENST00000532434.1_Missense_Mutation_p.V609L|NELL1_ENST00000325319.5_Missense_Mutation_p.V599L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	656					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.V656L(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAGGTGTTCTGTCTGCTCCTG	0.542																																						uc001mqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1966-1968)GTC>CTC		nel-like 1 isoform 1 precursor							68.0	60.0	63.0					11																	21581914		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581914G>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1966G>C	11.37:g.21581914G>C	ENSP00000349654:p.Val656Leu					NELL1_uc001mqf.2_Missense_Mutation_p.V609L|NELL1_uc009yid.2_Missense_Mutation_p.V684L|NELL1_uc010rdo.1_Missense_Mutation_p.V599L|NELL1_uc010rdp.1_Missense_Mutation_p.V369L|NELL1_uc001mqh.2_Intron	p.V656L	NM_006157	NP_006148	Q92832	NELL1_HUMAN			17	2119	+			656			VWFC 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1966G>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688246	0.48097	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79454	-1.27;-1.23;-1.16;-0.08	5.63	3.65	0.41850	.	0.220594	0.37955	N	0.001874	T	0.68467	0.3004	L	0.35854	1.095	0.41426	D	0.987833	B;B;B;B	0.25351	0.005;0.005;0.124;0.003	B;B;B;B	0.29663	0.004;0.003;0.105;0.002	T	0.64093	-0.6488	10	0.27082	T	0.32	-3.9459	12.6909	0.56974	0.0:0.1258:0.7433:0.1309	.	599;684;609;656	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	684;656;599;609	ENSP00000298925:V684L;ENSP00000349654:V656L;ENSP00000317837:V599L;ENSP00000437170:V609L	ENSP00000298925:V684L	V	+	1	0	NELL1	21538490	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.033000	0.57282	1.341000	0.45600	0.563000	0.77884	GTC		PASS	0.542	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		5	11	5	11	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46896436	46896436	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:46896436G>A	ENST00000378623.1	-	28	4386	c.4144C>T	c.(4144-4146)Cct>Tct	p.P1382S	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1382					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.P1382S(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGAGCTCAGGAACAGGGACA	0.522																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4144-4146)CCT>TCT		low density lipoprotein receptor-related protein							162.0	131.0	142.0					11																	46896436		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46896436G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4144C>T	11.37:g.46896436G>A	ENSP00000367888:p.Pro1382Ser						p.P1382S	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	28	4290	-			1382			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4144C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797964	0.50208	.	.	ENSG00000134569	ENST00000378623	D	0.90788	-2.73	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	L	0.35542	1.07	0.58432	D	0.999999	B	0.13594	0.008	B	0.14578	0.011	T	0.80710	-0.1261	10	0.10902	T	0.67	.	19.7824	0.96422	0.0:0.0:1.0:0.0	.	1382	O75096	LRP4_HUMAN	S	1382	ENSP00000367888:P1382S	ENSP00000367888:P1382S	P	-	1	0	LRP4	46853012	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	6.279000	0.72620	2.677000	0.91161	0.561000	0.74099	CCT		PASS	0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	60	13	60	---	---	---	---
DDB2	1643	broad.mit.edu	37	11	47254483	47254483	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:47254483G>T	ENST00000256996.4	+	4	770	c.575G>T	c.(574-576)cGa>cTa	p.R192L	DDB2_ENST00000378603.3_Missense_Mutation_p.R128L|DDB2_ENST00000378601.3_Missense_Mutation_p.R192L|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	192					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.R192L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						AACATTCTACGAGTTTTTGCC	0.468			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)	3						c.(574-576)CGA>CTA	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							167.0	139.0	149.0					11																	47254483		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47254483G>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.575G>T	11.37:g.47254483G>T	ENSP00000256996:p.Arg192Leu					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.R128L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.R56L|DDB2_uc001neh.2_RNA	p.R192L	NM_000107	NP_000098	Q92466	DDB2_HUMAN			4	770	+			192			WD 2.		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.575G>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942990	0.53079	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378601	T;T;T	0.66815	-0.23;2.9;1.57	5.86	0.74	0.18330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.249943	0.40554	N	0.001072	T	0.56156	0.1966	L	0.56769	1.78	0.22511	N	0.999035	P;B;B	0.47677	0.899;0.264;0.346	B;B;B	0.39531	0.302;0.059;0.043	T	0.51624	-0.8682	10	0.41790	T	0.15	-8.0614	9.1851	0.37165	0.4281:0.0:0.5718:0.0	.	128;192;192	Q92466-4;Q92466-5;Q92466	.;.;DDB2_HUMAN	L	192;128;192	ENSP00000256996:R192L;ENSP00000367866:R128L;ENSP00000367864:R192L	ENSP00000256996:R192L	R	+	2	0	DDB2	47211059	0.776000	0.28616	0.972000	0.41901	0.979000	0.70002	0.524000	0.22940	0.090000	0.17273	-0.768000	0.03414	CGA		PASS	0.468	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		5	140	5	140	---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87016979	87016979	+	Splice_Site	SNP	T	T	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr11:87016979T>A	ENST00000305494.5	+	9	739	c.700T>A	c.(700-702)Tgc>Agc	p.C234S	TMEM135_ENST00000535167.1_Splice_Site_p.C95S|TMEM135_ENST00000340353.7_Splice_Site_p.C212S|TMEM135_ENST00000532959.1_Splice_Site_p.C105S	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	234					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.C234S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAATTTCAGATGCAAACATGG	0.284																																						uc001pch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)TGC>AGC		transmembrane protein 135							58.0	59.0	59.0					11																	87016979		2200	4285	6485	SO:0001630	splice_region_variant	65084					integral to membrane		g.chr11:87016979T>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.699-1T>A	11.37:g.87016979T>A						TMEM135_uc010rtt.1_Missense_Mutation_p.C95S|TMEM135_uc001pci.2_Missense_Mutation_p.C212S	p.C234S	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			9	723	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	234					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.700T>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510322	0.44660	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.63428	1.95	0.80722	D	1	P;D	0.53745	0.902;0.962	B;P	0.51615	0.415;0.675	T	0.13710	-1.0499	9	.	.	.	-26.7035	14.499	0.67709	0.0:0.0:0.0:1.0	.	212;234	Q86UB9-2;Q86UB9	.;TM135_HUMAN	S	212;71;105;234;95	ENSP00000345513:C212S;ENSP00000436179:C105S;ENSP00000306344:C234S;ENSP00000439525:C95S	.	C	+	1	0	TMEM135	86694627	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.819000	0.86621	2.090000	0.63153	0.374000	0.22700	TGC		PASS	0.284	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	Missense_Mutation	5	26	5	26	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14613749	14613749	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr12:14613749G>T	ENST00000540793.1	+	8	2634	c.2479G>T	c.(2479-2481)Ggt>Tgt	p.G827C	ATF7IP_ENST00000544627.1_Missense_Mutation_p.G835C|ATF7IP_ENST00000543189.1_Missense_Mutation_p.G826C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.G826C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G827C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	827					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.G827C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACAGTGAGTGGTCTTACCAA	0.468																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(2479-2481)GGT>TGT		activating transcription factor 7 interacting							145.0	128.0	134.0					12																	14613749		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14613749G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2479G>T	12.37:g.14613749G>T	ENSP00000444589:p.Gly827Cys					ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.G827C|ATF7IP_uc001rbv.1_Missense_Mutation_p.G826C|ATF7IP_uc001rbx.2_Missense_Mutation_p.G826C|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.G827C|ATF7IP_uc001rca.2_Missense_Mutation_p.G827C	p.G827C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			9	2637	+			827					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2479G>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503621	0.64298	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18960	2.18;2.2;2.18;2.18;2.18	5.64	3.84	0.44239	.	0.347898	0.28459	N	0.015273	T	0.33556	0.0867	L	0.51422	1.61	0.32972	D	0.522409	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.70935	0.947;0.947;0.971;0.964	T	0.42582	-0.9443	9	.	.	.	-20.0177	6.3406	0.21321	0.3764:0.0:0.6236:0.0	.	826;827;826;438	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	C	827;826;826;835;827	ENSP00000261168:G827C;ENSP00000443179:G826C;ENSP00000445955:G826C;ENSP00000440440:G835C;ENSP00000444589:G827C	.	G	+	1	0	ATF7IP	14505016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.661000	0.37408	0.947000	0.37659	0.650000	0.86243	GGT		PASS	0.468	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		4	27	4	27	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46321720	46321720	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr12:46321720G>T	ENST00000369367.3	-	11	1997	c.1764C>A	c.(1762-1764)tcC>tcA	p.S588S	SCAF11_ENST00000465950.1_Silent_p.S273S|SCAF11_ENST00000549162.1_Silent_p.S396S|SCAF11_ENST00000419565.2_Silent_p.S588S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	588					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S588S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTCTACTAGGGAACTCTCTG	0.368																																						uc001rox.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1762-1764)TCC>TCA		splicing factor, arginine/serine-rich 2,							65.0	70.0	68.0					12																	46321720		2201	4297	6498	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46321720G>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1764C>A	12.37:g.46321720G>T						SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S	p.S588S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	2051	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	588					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.1764C>A	CCDS8748.2																																																																																				PASS	0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		5	34	5	34	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53004546	53004546	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr12:53004546T>G	ENST00000305748.3	-	7	1218	c.1184A>C	c.(1183-1185)aAg>aCg	p.K395T	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	395	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.K395T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCATCCAGCTTGGCCCTGGC	0.642																																						uc001sas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1183-1185)AAG>ACG		keratin 73							85.0	70.0	75.0					12																	53004546		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53004546T>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1184A>C	12.37:g.53004546T>G	ENSP00000307014:p.Lys395Thr						p.K395T	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1219	-			395			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1184A>C	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928828	0.52759	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	T;D	0.88896	-0.96;-2.44	5.62	5.62	0.85841	Filament (1);	0.000000	0.56097	D	0.000035	D	0.94205	0.8140	M	0.82193	2.58	0.31552	N	0.658664	D	0.89917	1.0	D	0.97110	1.0	D	0.94230	0.7475	10	0.87932	D	0	.	11.9797	0.53113	0.0:0.0695:0.0:0.9305	.	395	Q86Y46	K2C73_HUMAN	T	395;140	ENSP00000307014:K395T;ENSP00000449081:K140T	ENSP00000307014:K395T	K	-	2	0	KRT73	51290813	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	2.441000	0.44864	2.279000	0.76181	0.459000	0.35465	AAG		PASS	0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		5	32	5	32	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104481815	104481815	+	Splice_Site	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr12:104481815G>C	ENST00000229330.4	+	9	1387	c.1283G>C	c.(1282-1284)aGt>aCt	p.S428T		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	428	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.S428T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCCTAACAGTGTAAGTAAA	0.373																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1282-1284)AGT>ACT		host cell factor C2							123.0	112.0	116.0					12																	104481815		2203	4300	6503	SO:0001630	splice_region_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104481815G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1284+1G>C	12.37:g.104481815G>C						HCFC2_uc009zul.2_Intron	p.S428T	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			9	1386	+			428			Fibronectin type-III 1.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1283G>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770523	0.15983	.	.	ENSG00000111727	ENST00000229330	T	0.01629	4.72	5.67	2.48	0.30137	Fibronectin, type III (3);	0.435576	0.25247	N	0.032048	T	0.01254	0.0041	N	0.19112	0.55	0.32628	N	0.522374	B	0.26002	0.139	B	0.17433	0.018	T	0.37641	-0.9697	10	0.37606	T	0.19	-7.6785	5.455	0.16586	0.386:0.0:0.614:0.0	.	428	Q9Y5Z7	HCFC2_HUMAN	T	428	ENSP00000229330:S428T	ENSP00000229330:S428T	S	+	2	0	HCFC2	103005945	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	1.316000	0.33620	0.751000	0.32900	0.650000	0.86243	AGT		PASS	0.373	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	Missense_Mutation	6	14	6	14	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30135343	30135343	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr14:30135343A>G	ENST00000331968.5	-	3	704	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F159L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	159					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.F159L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGATCACAGAAAGCTGGAGCT	0.428																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(475-477)TTC>CTC		protein kinase D1							145.0	135.0	139.0					14																	30135343		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30135343A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.475T>C	14.37:g.30135343A>G	ENSP00000333568:p.Phe159Leu						p.F159L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	656	-	Hepatocellular(127;0.0604)		159			Phorbol-ester/DAG-type 1.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.475T>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	34	5.337566	0.95758	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.93659	-3.26;-3.26;-3.26	5.53	5.53	0.82687	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.97810	1.0250	10	0.87932	D	0	-24.2396	15.6511	0.77095	1.0:0.0:0.0:0.0	.	159	Q15139	KPCD1_HUMAN	L	159;159;82	ENSP00000333568:F159L;ENSP00000390535:F159L;ENSP00000446866:F82L	ENSP00000333568:F159L	F	-	1	0	PRKD1	29205094	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.101000	0.63845	0.482000	0.46254	TTC		PASS	0.428	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		17	48	17	48	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33256413	33256413	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr15:33256413G>T	ENST00000559047.1	-	6	3032	c.3033C>A	c.(3031-3033)gaC>gaA	p.D1011E	FMN1_ENST00000561249.1_Missense_Mutation_p.D913E|FMN1_ENST00000334528.9_Missense_Mutation_p.D788E			Q68DA7	FMN1_HUMAN	formin 1	1011	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D1011E(1)|p.D788E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGTCCCGAATGTCAGGTTCTT	0.378																																						uc001zhf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2362-2364)GAC>GAA		formin 1							152.0	140.0	143.0					15																	33256413		1818	4076	5894	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33256413G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3033C>A	15.37:g.33256413G>T	ENSP00000454047:p.Asp1011Glu						p.D788E	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	5	2364	-		all_lung(180;1.14e-07)	1011			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2364C>A		.	.	.	.	.	.	.	.	.	.	G	11.47	1.648737	0.29336	.	.	ENSG00000248905	ENST00000334528	T	0.16743	2.32	5.06	0.0828	0.14430	.	0.317683	0.36555	N	0.002528	T	0.07007	0.0178	N	0.04508	-0.205	.	.	.	B	0.28584	0.216	B	0.30251	0.113	T	0.34104	-0.9842	9	0.22109	T	0.4	.	10.1775	0.42948	0.5645:0.0:0.4355:0.0	.	788	Q68DA7-5	.	E	788	ENSP00000333950:D788E	ENSP00000333950:D788E	D	-	3	2	FMN1	31043705	0.991000	0.36638	0.995000	0.50966	0.963000	0.63663	0.257000	0.18369	-0.238000	0.09724	0.563000	0.77884	GAC		PASS	0.378	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		7	60	7	60	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35210573	35210573	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr15:35210573G>T	ENST00000156471.5	-	15	1453	c.1228C>A	c.(1228-1230)Cgt>Agt	p.R410S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	410					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R410S(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CGTTCATGACGAGATACCTAA	0.338																																						uc001ziv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1228-1230)CGT>AGT		aquarius							78.0	70.0	73.0					15																	35210573		1837	4090	5927	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35210573G>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1228C>A	15.37:g.35210573G>T	ENSP00000156471:p.Arg410Ser						p.R410S	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	15	1409	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	410					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1228C>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718289	0.89205	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93247	-3.19	4.74	4.74	0.60224	.	0.097598	0.64402	D	0.000001	D	0.91727	0.7384	M	0.66939	2.045	0.53005	D	0.99996	P	0.42735	0.788	B	0.41466	0.358	D	0.90171	0.4235	10	0.07813	T	0.8	-13.4226	17.925	0.88980	0.0:0.0:1.0:0.0	.	410	O60306	AQR_HUMAN	S	410	ENSP00000156471:R410S	ENSP00000156471:R410S	R	-	1	0	AQR	32997865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.572000	0.82409	2.474000	0.83562	0.491000	0.48974	CGT		PASS	0.338	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		4	37	4	37	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90171694	90171694	+	Nonsense_Mutation	SNP	G	G	A	rs370123540		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr15:90171694G>A	ENST00000394412.3	-	19	4064	c.3988C>T	c.(3988-3990)Cga>Tga	p.R1330*	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1330			Missing (in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67). {ECO:0000269|PubMed:21633164}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R817*(1)|p.R1330*(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGCTGGCTCGTCGCAGTTCC	0.672																																						uc002bof.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)	3						c.(3988-3990)CGA>TGA		kinesin family member 7		G	stop/ARG	0,4374		0,0,2187	38.0	47.0	44.0		3988	1.8	0.1	15		44	1,8555		0,1,4277	no	stop-gained	KIF7	NM_198525.2		0,1,6464	AA,AG,GG		0.0117,0.0,0.0077		1330/1344	90171694	1,12929	2187	4278	6465	SO:0001587	stop_gained	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90171694G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3988C>T	15.37:g.90171694G>A	ENSP00000377934:p.Arg1330*					KIF7_uc010upw.1_Nonsense_Mutation_p.R816*|C15orf42_uc010upv.1_Intron	p.R1330*	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		19	4065	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1330					Q3SXY0|Q6UXE9|Q8IW72	Nonsense_Mutation	SNP	ENST00000394412.3	37	c.3988C>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	39	7.496876	0.98319	0.0	1.17E-4	ENSG00000166813	ENST00000394412	.	.	.	5.59	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.1785	0.59641	0.0:0.0:0.4235:0.5765	.	.	.	.	X	1330	.	ENSP00000377934:R1330X	R	-	1	2	KIF7	87972698	0.992000	0.36948	0.095000	0.20976	0.112000	0.19704	2.068000	0.41471	0.409000	0.25649	-0.521000	0.04368	CGA		PASS	0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		9	35	9	35	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101933582	101933582	+	Silent	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr15:101933582G>A	ENST00000348070.1	-	9	1040	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	PCSK6_ENST00000398181.2_Silent_p.G347G|PCSK6_ENST00000331826.7_Silent_p.G182G|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.G347G|PCSK6_ENST00000344273.2_Silent_p.G347G	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	348	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.G347G(3)|p.G182G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCTCTCCCGCCATTCCCAG	0.617																																						uc002bwy.2																			4	Substitution - coding silent(4)		lung(4)	pancreas(2)	2						c.(1042-1044)GGC>GGT		paired basic amino acid cleaving system 4							52.0	61.0	58.0					15																	101933582		2201	4300	6501	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933582G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1041C>T	15.37:g.101933582G>A						PCSK6_uc010bpd.2_Silent_p.G218G|PCSK6_uc010bpe.2_Silent_p.G348G|PCSK6_uc002bxa.2_Silent_p.G348G|PCSK6_uc002bxb.2_Silent_p.G348G|PCSK6_uc002bxc.1_Silent_p.G348G|PCSK6_uc002bxd.1_Silent_p.G348G|PCSK6_uc002bxe.2_Silent_p.G348G|PCSK6_uc002bxg.1_Silent_p.G348G	p.G348G	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1358	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		348			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.1044C>T																																																																																					PASS	0.617	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		8	33	8	33	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1388906	1388906	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:1388906A>C	ENST00000324385.5	+	3	398	c.240A>C	c.(238-240)aaA>aaC	p.K80N	BAIAP3_ENST00000397489.1_Missense_Mutation_p.K45N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.K45N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.K45N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.K45N|BAIAP3_ENST00000562208.1_Missense_Mutation_p.K45N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.K45N	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	80					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.K80N(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)				TCTCCAGGAAACCCGGGGATG	0.642																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(238-240)AAA>AAC		BAI1-associated protein 3							80.0	86.0	84.0					16																	1388906		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388906A>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.240A>C	16.37:g.1388906A>C	ENSP00000324510:p.Lys80Asn					BAIAP3_uc002clj.2_Missense_Mutation_p.K45N|BAIAP3_uc010uuz.1_Missense_Mutation_p.K45N|BAIAP3_uc010uva.1_Missense_Mutation_p.K45N|BAIAP3_uc010uvb.1_Missense_Mutation_p.K80N|BAIAP3_uc010uvc.1_Missense_Mutation_p.K45N	p.K80N	NM_003933	NP_003924	O94812	BAIP3_HUMAN			3	240	+		Hepatocellular(780;0.0893)	80					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.240A>C	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	A	7.549	0.662220	0.14645	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72167	-0.61;-0.62;-0.63;-0.62;-0.63	4.04	0.346	0.16017	.	0.742820	0.12599	N	0.454864	T	0.58637	0.2136	L	0.54323	1.7	0.09310	N	0.999999	B;P;B;B;B	0.35656	0.201;0.514;0.201;0.201;0.201	B;B;B;B;B	0.35182	0.036;0.197;0.036;0.055;0.036	T	0.47289	-0.9129	10	0.35671	T	0.21	-2.8924	3.273	0.06888	0.3349:0.2452:0.4199:0.0	.	45;80;45;80;45	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	N	45;45;80;45;45	ENSP00000407242:K45N;ENSP00000380625:K45N;ENSP00000324510:K80N;ENSP00000380626:K45N;ENSP00000409533:K45N	ENSP00000324510:K80N	K	+	3	2	BAIAP3	1328907	0.864000	0.29904	0.600000	0.28864	0.286000	0.27126	0.472000	0.22116	-0.180000	0.10637	0.397000	0.26171	AAA		PASS	0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			8	89	8	89	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3789636	3789636	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:3789636C>T	ENST00000262367.5	-	25	5032	c.4223G>A	c.(4222-4224)tGc>tAc	p.C1408Y	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1370Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1408	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C1408Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCAAAAAAGCAGACATCCAC	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)	p.C1408Y(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4222-4224)TGC>TAC		CREB binding protein isoform a							94.0	85.0	88.0					16																	3789636		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789636C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4223G>A	16.37:g.3789636C>T	ENSP00000262367:p.Cys1408Tyr					CREBBP_uc002cvw.2_Missense_Mutation_p.C1370Y	p.C1408Y	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	4427	-		Ovarian(90;0.0266)	1408			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4223G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.059251	0.76074	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.94232	-3.38;-3.38	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98611	1.0663	10	0.87932	D	0	-14.4711	19.4402	0.94817	0.0:1.0:0.0:0.0	.	1438;1408	Q4LE28;Q92793	.;CBP_HUMAN	Y	1408;1438;1370	ENSP00000262367:C1408Y;ENSP00000371502:C1370Y	ENSP00000262367:C1408Y	C	-	2	0	CREBBP	3729637	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.713000	0.84693	2.665000	0.90641	0.561000	0.74099	TGC		PASS	0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	55	6	55	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7629902	7629902	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:7629902G>A	ENST00000550418.1	+	6	1382	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RBFOX1_ENST00000340209.4_Missense_Mutation_p.D137N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D132N|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D132N|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D152N|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D175N|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D175N|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D167N|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D152N|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D152N|RBFOX1_ENST00000535565.2_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	132	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.D152N(2)|p.D132N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCGGGATCCGGACCTCAGACA	0.532																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			3	Substitution - Missense(3)		lung(3)		0						c.(394-396)GAC>AAC		ataxin 2-binding protein 1 isoform 4							87.0	81.0	83.0					16																	7629902		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629902G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.394G>A	16.37:g.7629902G>A	ENSP00000450031:p.Asp132Asn					A2BP1_uc010buf.1_Missense_Mutation_p.D132N|A2BP1_uc002cyr.1_Missense_Mutation_p.D131N|A2BP1_uc002cyt.2_Missense_Mutation_p.D132N|A2BP1_uc010uxz.1_Missense_Mutation_p.D175N|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.D132N|A2BP1_uc010uyb.1_Missense_Mutation_p.D132N|A2BP1_uc002cyw.2_Missense_Mutation_p.D152N|A2BP1_uc002cyy.2_Missense_Mutation_p.D152N|A2BP1_uc002cyx.2_Missense_Mutation_p.D152N|A2BP1_uc010uyc.1_Missense_Mutation_p.D152N	p.D132N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	6	1382	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	132			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.394G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772126	0.96922	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	2.17;2.17;2.17;2.17;2.17;0.98;2.17;2.17;2.17;2.17;2.17;2.17	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	M	0.67397	2.05	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	0.997;0.937;0.999;0.998;0.999;0.998;1.0;0.981	D;D;D;D;D;D;D;D	0.87578	0.988;0.946;0.998;0.988;0.994;0.988;0.997;0.955	T	0.67569	-0.5637	10	0.72032	D	0.01	-19.4393	19.1841	0.93635	0.0:0.0:1.0:0.0	.	152;175;152;152;152;132;132;175	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	N	131;132;132;175;175;167;132;132;152;152;152;152;137	ENSP00000450402:D131N;ENSP00000450031:D132N;ENSP00000447753:D132N;ENSP00000446842:D175N;ENSP00000391269:D175N;ENSP00000448496:D167N;ENSP00000447281:D132N;ENSP00000447717:D132N;ENSP00000402745:D152N;ENSP00000309117:D152N;ENSP00000347855:D152N;ENSP00000344196:D137N	ENSP00000309117:D152N	D	+	1	0	RBFOX1	7569903	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	9.441000	0.97557	2.537000	0.85549	0.655000	0.94253	GAC		PASS	0.532	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		7	36	7	36	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15865568	15865568	+	Splice_Site	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:15865568A>G	ENST00000300036.5	-	9	1000	c.891T>C	c.(889-891)agT>agC	p.S297S	MYH11_ENST00000452625.2_Splice_Site_p.S304S|MYH11_ENST00000396324.3_Splice_Site_p.S304S|MYH11_ENST00000576790.2_Splice_Site_p.S297S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	297	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.S304S(1)|p.S297S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAAGCAAGTCACCTAGAAGGA	0.488			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(889-891)AGT>AGC		smooth muscle myosin heavy chain 11 isoform							79.0	65.0	70.0					16																	15865568		2197	4300	6497	SO:0001630	splice_region_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865568A>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.890-1T>C	16.37:g.15865568A>G						MYH11_uc002ddv.2_Silent_p.S304S|MYH11_uc002ddw.2_Silent_p.S297S|MYH11_uc002ddx.2_Silent_p.S304S|MYH11_uc010bvg.2_Silent_p.S129S|MYH11_uc002dea.1_Silent_p.S3S	p.S297S	NM_002474	NP_002465	P35749	MYH11_HUMAN			9	998	-			297			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.891T>C	CCDS10565.1																																																																																				PASS	0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	Silent	11	56	11	56	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25264319	25264319	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:25264319C>A	ENST00000328086.7	-	3	1429	c.626G>T	c.(625-627)tGg>tTg	p.W209L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	209					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.W209L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TAGGGTATTCCATTCATCAGC	0.453																																						uc002dod.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(625-627)TGG>TTG		zinc finger with KRAB and SCAN domains 2							150.0	150.0	150.0					16																	25264319		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25264319C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.626G>T	16.37:g.25264319C>A	ENSP00000331626:p.Trp209Leu					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.M1I|ZKSCAN2_uc002doe.2_Missense_Mutation_p.W209L	p.W209L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	3	1033	-			209					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.626G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527656	0.44969	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.12672	2.66	5.99	5.99	0.97316	.	0.228461	0.31450	N	0.007621	T	0.16300	0.0392	L	0.43152	1.355	0.39928	D	0.974259	P;P	0.43750	0.608;0.816	B;B	0.42282	0.291;0.382	T	0.00928	-1.1511	10	0.40728	T	0.16	-12.2748	15.9778	0.80083	0.0:1.0:0.0:0.0	.	209;209	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	L	209	ENSP00000331626:W209L	ENSP00000331626:W209L	W	-	2	0	ZKSCAN2	25171820	0.974000	0.33945	0.908000	0.35775	0.023000	0.10783	3.522000	0.53480	2.840000	0.97914	0.655000	0.94253	TGG		PASS	0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		9	195	9	195	---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47162370	47162370	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:47162370G>T	ENST00000562435.1	-	4	731	c.347C>A	c.(346-348)cCt>cAt	p.P116H	NETO2_ENST00000303155.5_Missense_Mutation_p.P116H	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	116	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.P116H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ATCTATAAGAGGAGAGAAACC	0.388										HNSCC(25;0.065)																												uc002eer.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CCT>CAT		neuropilin- and tolloid-like protein 2							146.0	146.0	146.0					16																	47162370		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47162370G>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.347C>A	16.37:g.47162370G>T	ENSP00000455169:p.Pro116His	HNSCC(25;0.065)				NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.P116H	p.P116H	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			4	732	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	116			Extracellular (Potential).|CUB 1.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.347C>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775750	0.90195	.	.	ENSG00000171208	ENST00000303155	T	0.32515	1.45	5.72	5.72	0.89469	CUB (5);	0.050571	0.85682	D	0.000000	T	0.61413	0.2345	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64546	-0.6382	10	0.87932	D	0	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	116;116	Q32NC3;Q8NC67	.;NETO2_HUMAN	H	116	ENSP00000306726:P116H	ENSP00000306726:P116H	P	-	2	0	NETO2	45719871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CCT		PASS	0.388	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		6	102	6	102	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53922817	53922817	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:53922817A>T	ENST00000471389.1	+	7	1415	c.1193A>T	c.(1192-1194)cAa>cTa	p.Q398L	FTO_ENST00000460382.1_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.Q102L|FTO_ENST00000431610.2_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	398					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.Q398L(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGTGGTGTCAACCCATGGCT	0.498																																						uc002ehr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1192-1194)CAA>CTA		fat mass and obesity associated							286.0	257.0	266.0					16																	53922817		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53922817A>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1193A>T	16.37:g.53922817A>T	ENSP00000418823:p.Gln398Leu					FTO_uc010vha.1_Missense_Mutation_p.Q102L|FTO_uc010cbz.2_5'UTR	p.Q398L	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			7	1415	+			398					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1193A>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.453442	0.43531	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	T;T	0.50001	0.76;0.76	5.84	4.71	0.59529	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.403898	0.28724	N	0.014353	T	0.35970	0.0950	L	0.29908	0.895	0.22531	N	0.999012	B	0.06786	0.001	B	0.08055	0.003	T	0.24225	-1.0166	10	0.45353	T	0.12	0.002	12.3922	0.55364	0.8742:0.0:0.0:0.1258	.	398	Q9C0B1	FTO_HUMAN	L	398;102	ENSP00000418823:Q398L;ENSP00000378142:Q102L	ENSP00000378142:Q102L	Q	+	2	0	FTO	52480318	0.986000	0.35501	0.981000	0.43875	0.889000	0.51656	3.854000	0.55949	2.230000	0.72887	0.528000	0.53228	CAA		PASS	0.498	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		8	57	8	57	---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57689812	57689812	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:57689812G>T	ENST00000388812.4	+	7	1365	c.925G>T	c.(925-927)Ggt>Tgt	p.G309C	GPR56_ENST00000567835.1_Missense_Mutation_p.G309C|GPR56_ENST00000562558.1_Missense_Mutation_p.G309C|GPR56_ENST00000568909.1_Missense_Mutation_p.G309C|GPR56_ENST00000544297.1_Missense_Mutation_p.G134C|GPR56_ENST00000456916.1_Missense_Mutation_p.G309C|GPR56_ENST00000540164.2_Missense_Mutation_p.G309C|GPR56_ENST00000379696.3_Missense_Mutation_p.G309C|GPR56_ENST00000388813.5_Missense_Mutation_p.G309C|GPR56_ENST00000379694.4_Missense_Mutation_p.G139C|GPR56_ENST00000568908.1_Missense_Mutation_p.G309C|GPR56_ENST00000538815.1_Missense_Mutation_p.G309C|GPR56_ENST00000562631.1_Missense_Mutation_p.G309C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	309					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.G309C(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCAAGTCCTGGGTGAGAAGGT	0.557																																						uc002emb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GGT>TGT		G protein-coupled receptor 56 isoform a							122.0	119.0	120.0					16																	57689812		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689812G>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.925G>T	16.37:g.57689812G>T	ENSP00000373464:p.Gly309Cys					GPR56_uc002elz.1_Missense_Mutation_p.G139C|GPR56_uc002ema.1_Missense_Mutation_p.G134C|GPR56_uc002emc.2_Missense_Mutation_p.G309C|GPR56_uc002emf.2_Missense_Mutation_p.G309C|GPR56_uc010vhs.1_Missense_Mutation_p.G309C|GPR56_uc002emd.2_Missense_Mutation_p.G309C|GPR56_uc002eme.2_Missense_Mutation_p.G309C|GPR56_uc010vht.1_Missense_Mutation_p.G314C|GPR56_uc002emg.3_Missense_Mutation_p.G309C|GPR56_uc010vhu.1_Missense_Mutation_p.G134C	p.G309C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			8	1217	+			309			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.925G>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128421	0.77549	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.48522	0.82;0.81;0.82;0.81;0.82;1.69;1.1;0.81	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000005	T	0.68568	0.3015	M	0.69823	2.125	0.46521	D	0.999081	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.996;0.967;0.996;1.0	T	0.70015	-0.4988	10	0.59425	D	0.04	.	16.7519	0.85488	0.0:0.0:1.0:0.0	.	134;314;309;309;139	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	C	309;309;309;309;309;134;139;309	ENSP00000373465:G309C;ENSP00000373464:G309C;ENSP00000444415:G309C;ENSP00000398034:G309C;ENSP00000444911:G309C;ENSP00000438006:G134C;ENSP00000369016:G139C;ENSP00000369018:G309C	ENSP00000369016:G139C	G	+	1	0	GPR56	56247313	1.000000	0.71417	0.981000	0.43875	0.908000	0.53690	3.406000	0.52637	2.617000	0.88574	0.655000	0.94253	GGT		PASS	0.557	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			7	127	7	127	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68156951	68156951	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr16:68156951G>T	ENST00000346183.3	+	2	1189	c.1165G>T	c.(1165-1167)Ggt>Tgt	p.G389C	NFATC3_ENST00000349223.5_Missense_Mutation_p.G389C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.G389C|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000329524.4_Missense_Mutation_p.G389C	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	389					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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.G389C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGATTCATGTGGTGATCAGTT	0.468																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1165-1167)GGT>TGT		nuclear factor of activated T-cells,							100.0	106.0	104.0					16																	68156951		2198	4299	6497	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156951G>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1165G>T	16.37:g.68156951G>T	ENSP00000300659:p.Gly389Cys					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.G389C|NFATC3_uc002evm.1_Missense_Mutation_p.G389C|NFATC3_uc002evn.1_Missense_Mutation_p.G389C|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.G389C	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	1375	+		Ovarian(137;0.0563)	389					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1165G>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494349	0.44352	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.09445	2.98;2.98;2.98	5.52	3.47	0.39725	.	0.325700	0.36740	N	0.002425	T	0.15609	0.0376	N	0.21194	0.64	0.48571	D	0.999676	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;D;P;P	0.66716	0.863;0.946;0.903;0.903	T	0.05241	-1.0897	9	.	.	.	-5.6509	9.9148	0.41427	0.2232:0.0:0.7768:0.0	.	389;389;389;389	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	389	ENSP00000264008:G389C;ENSP00000300659:G389C;ENSP00000331324:G389C	.	G	+	1	0	NFATC3	66714452	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.577000	0.60922	1.399000	0.46721	0.655000	0.94253	GGT		PASS	0.468	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		6	93	6	93	---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2202732	2202732	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:2202732C>A	ENST00000263073.6	-	2	1365	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	SMG6_ENST00000544865.1_Missense_Mutation_p.G408C	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	439	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.G439C(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCTTACTACCAGATCCAAAC	0.542																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1315-1317)GGT>TGT		Smg-6 homolog, nonsense mediated mRNA decay							94.0	106.0	102.0					17																	2202732		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202732C>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1315G>T	17.37:g.2202732C>A	ENSP00000263073:p.Gly439Cys					SMG6_uc002fud.1_Missense_Mutation_p.G408C	p.G439C	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1370	-			439			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1315G>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492920	0.44352	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.20881	2.05;2.04	5.54	2.5	0.30297	.	0.063141	0.64402	D	0.000006	T	0.15825	0.0381	N	0.24115	0.695	0.39516	D	0.968433	P	0.45348	0.856	B	0.43360	0.417	T	0.03384	-1.1042	10	0.62326	D	0.03	-8.1165	10.4949	0.44772	0.0:0.791:0.0:0.209	.	439	Q86US8	EST1A_HUMAN	C	439;408	ENSP00000263073:G439C;ENSP00000443920:G408C	ENSP00000263073:G439C	G	-	1	0	SMG6	2149482	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	1.788000	0.38714	0.306000	0.22856	0.650000	0.86243	GGT		PASS	0.542	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			6	115	6	115	---	---	---	---
OR1A1	8383	broad.mit.edu	37	17	3118956	3118956	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:3118956C>A	ENST00000304094.1	+	1	42	c.42C>A	c.(40-42)ctC>ctA	p.L14L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AATTCATCCTCCTGGGAGTTA	0.418																																						uc010vrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)CTC>CTA		olfactory receptor, family 1, subfamily A,							112.0	96.0	101.0					17																	3118956		2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3118956C>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.42C>A	17.37:g.3118956C>A							p.L14L	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	42	+			14			Extracellular (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.42C>A	CCDS11022.1																																																																																				PASS	0.418	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		5	34	5	34	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7094078	7094078	+	Silent	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:7094078G>A	ENST00000399506.2	-	20	2315	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	DLG4_ENST00000399510.2_Silent_p.I751I|DLG4_ENST00000302955.6_Silent_p.I705I			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	708	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.I751I(1)|p.I705I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	AGAGGTCCTCGATGACACGCT	0.622																																						uc002get.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2251-2253)ATC>ATT		post-synaptic density protein 95 isoform 1							95.0	97.0	97.0					17																	7094078		2070	4213	6283	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7094078G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.2124C>T	17.37:g.7094078G>A						DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.I648I|DLG4_uc010cly.2_Silent_p.I705I|DLG4_uc010vto.1_Silent_p.I748I	p.I751I	NM_001365	NP_001356	P78352	DLG4_HUMAN			22	3454	-			708			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.2253C>T																																																																																					PASS	0.622	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		13	69	13	69	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696493	7696493	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:7696493C>A	ENST00000572933.1	+	48	8999	c.7539C>A	c.(7537-7539)gaC>gaA	p.D2513E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2513E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2513	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2513E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGGTATGACCGTACGAAGC	0.532																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7537-7539)GAC>GAA		dynein heavy chain domain 3							99.0	88.0	92.0					17																	7696493		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696493C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7539C>A	17.37:g.7696493C>A	ENSP00000458355:p.Asp2513Glu						p.D2513E	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			47	7553	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2513			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7539C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088612	0.36855	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.49432	0.78	4.39	-0.845	0.10737	ATPase, AAA+ type, core (1);	0.148704	0.46758	D	0.000269	T	0.65154	0.2664	M	0.88704	2.975	0.80722	D	1	P	0.52170	0.951	P	0.62014	0.897	T	0.66756	-0.5843	10	0.62326	D	0.03	.	9.0959	0.36638	0.0:0.5213:0.0:0.4787	.	2513	Q9P225	DYH2_HUMAN	E	2513	ENSP00000373825:D2513E	ENSP00000353818:D2513E	D	+	3	2	DNAH2	7637218	1.000000	0.71417	0.674000	0.29902	0.150000	0.21749	1.428000	0.34892	-0.056000	0.13221	-0.824000	0.03097	GAC		PASS	0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	39	4	39	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690294	33690294	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:33690294G>C	ENST00000394566.1	-	4	805	c.533C>G	c.(532-534)cCt>cGt	p.P178R	SLFN11_ENST00000308377.4_Missense_Mutation_p.P178R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	178					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.P178R(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGAGTTAGGGAGCTCTTG	0.433																																						uc010ctp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(532-534)CCT>CGT		schlafen family member 11							123.0	126.0	125.0					17																	33690294		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690294G>C	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.533C>G	17.37:g.33690294G>C	ENSP00000378067:p.Pro178Arg					SLFN11_uc010ctq.2_Missense_Mutation_p.P178R|SLFN11_uc002hjh.3_Missense_Mutation_p.P178R|SLFN11_uc002hjg.3_Missense_Mutation_p.P178R|SLFN11_uc010ctr.2_Missense_Mutation_p.P178R	p.P178R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	975	-		Ovarian(249;0.17)	178					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.533C>G	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	G	1.556	-0.537827	0.04082	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.01933	4.55;4.55	4.07	-8.14	0.01069	.	2.760200	0.01471	N	0.016265	T	0.01835	0.0058	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42666	-0.9438	10	0.18710	T	0.47	.	3.484	0.07613	0.0783:0.2543:0.2433:0.4242	.	178	Q7Z7L1	SLN11_HUMAN	R	178	ENSP00000312402:P178R;ENSP00000378067:P178R	ENSP00000312402:P178R	P	-	2	0	SLFN11	30714407	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.751000	0.01821	-2.842000	0.00334	-1.085000	0.02201	CCT		PASS	0.433	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	98	7	98	---	---	---	---
CWC25	54883	broad.mit.edu	37	17	36958422	36958422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:36958422C>A	ENST00000225428.5	-	10	1498	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	PIP4K2B_ENST00000269554.3_5'Flank|PIP4K2B_ENST00000311500.6_5'Flank|CWC25_ENST00000536127.1_Nonsense_Mutation_p.E338*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	401								p.E401*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACCCGATCCTCCAGGGAGGAA	0.438																																						uc002hqu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1201-1203)GAG>TAG		coiled-coil domain containing 49							61.0	59.0	60.0					17																	36958422		1897	4123	6020	SO:0001587	stop_gained	54883							g.chr17:36958422C>A	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1201G>T	17.37:g.36958422C>A	ENSP00000225428:p.Glu401*					CWC25_uc010wdv.1_Nonsense_Mutation_p.E338*|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	p.E401*	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN			10	1354	-			401					A0JLM3|Q68DK5	Nonsense_Mutation	SNP	ENST00000225428.5	37	c.1201G>T	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	C	39	7.681255	0.98428	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.1303	0.86724	0.0:1.0:0.0:0.0	.	.	.	.	X	401;338	.	ENSP00000225428:E401X	E	-	1	0	CWC25	34211948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.878000	0.75567	2.633000	0.89246	0.563000	0.77884	GAG		PASS	0.438	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		5	47	5	47	---	---	---	---
KRT39	390792	broad.mit.edu	37	17	39122796	39122796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:39122796C>A	ENST00000355612.2	-	1	348	c.313G>T	c.(313-315)Gag>Tag	p.E105*	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	105	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E105*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCAAGGCGCTCGTTCAAGATT	0.448																																						uc002hvo.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(313-315)GAG>TAG		type I hair keratin KA35							208.0	210.0	209.0					17																	39122796		2203	4296	6499	SO:0001587	stop_gained	390792					intermediate filament	structural molecule activity	g.chr17:39122796C>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.313G>T	17.37:g.39122796C>A	ENSP00000347823:p.Glu105*					KRT39_uc010wfm.1_5'UTR	p.E105*	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			1	349	-		Breast(137;0.00043)|Ovarian(249;0.15)	105			Coil 1A.|Rod.		B2RXK6|Q6IFU6	Nonsense_Mutation	SNP	ENST00000355612.2	37	c.313G>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797798	0.31777	.	.	ENSG00000196859	ENST00000355612	.	.	.	5.81	-3.13	0.05266	.	1.333630	0.05006	N	0.469995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.482	0.27411	0.0:0.4381:0.1997:0.3622	.	.	.	.	X	105	.	ENSP00000347823:E105X	E	-	1	0	KRT39	36376322	0.032000	0.19561	0.014000	0.15608	0.002000	0.02628	0.572000	0.23684	-0.272000	0.09259	-0.137000	0.14449	GAG		PASS	0.448	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		5	159	5	159	---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42937901	42937901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:42937901C>A	ENST00000426333.2	-	17	1915	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	EFTUD2_ENST00000402521.3_Nonsense_Mutation_p.E505*|EFTUD2_ENST00000592576.1_Nonsense_Mutation_p.E530*|EFTUD2_ENST00000591382.1_Nonsense_Mutation_p.E540*	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	540					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.E540*(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CGGTTCACCTCGATGTGGTAC	0.433																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1618-1620)GAG>TAG		elongation factor Tu GTP binding domain							128.0	105.0	113.0					17																	42937901		2203	4300	6503	SO:0001587	stop_gained	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42937901C>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1618G>T	17.37:g.42937901C>A	ENSP00000392094:p.Glu540*					EFTUD2_uc010wje.1_Nonsense_Mutation_p.E505*|EFTUD2_uc010wjf.1_Nonsense_Mutation_p.E530*	p.E540*	NM_004247	NP_004238	Q15029	U5S1_HUMAN			17	1879	-		Prostate(33;0.109)	540					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Nonsense_Mutation	SNP	ENST00000426333.2	37	c.1618G>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	40	8.300126	0.98750	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.0E-4	18.8158	0.92076	0.0:1.0:0.0:0.0	.	.	.	.	X	540;530;505	.	ENSP00000262414:E530X	E	-	1	0	EFTUD2	40293427	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.583000	0.82559	2.776000	0.95493	0.650000	0.86243	GAG		PASS	0.433	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	57	4	57	---	---	---	---
KAT7	11143	broad.mit.edu	37	17	47886480	47886480	+	Splice_Site	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:47886480G>T	ENST00000259021.4	+	6	943		c.e6-1		KAT7_ENST00000509773.1_Intron|KAT7_ENST00000503935.2_Splice_Site|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000454930.2_Splice_Site	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7						chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(1)									GATGGTTGCAGGTGAGAGCAC	0.438																																						uc002ipm.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.e6-1		MYST histone acetyltransferase 2							125.0	106.0	112.0					17																	47886480		2203	4300	6503	SO:0001630	splice_region_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47886480G>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.664-1G>T	17.37:g.47886480G>T						MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Splice_Site_p.V83_splice|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Splice_Site_p.V66_splice|MYST2_uc010wme.1_Intron	p.V222_splice	NM_007067	NP_008998	O95251	MYST2_HUMAN			6	790	+								B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Splice_Site	SNP	ENST00000259021.4	37	c.664_splice	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729809	0.89390	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000503935	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6588	0.95855	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KAT7	45241479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.568000	0.90741	2.751000	0.94390	0.650000	0.86243	.		PASS	0.438	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	Intron	5	47	5	47	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008434	50008434	+	Silent	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:50008434C>T	ENST00000285273.4	-	4	1306	c.195G>A	c.(193-195)cgG>cgA	p.R65R	CA10_ENST00000451037.2_Silent_p.R65R|CA10_ENST00000340813.6_Silent_p.R71R|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Silent_p.R65R	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development (GO:0007420)			p.R65R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGGCGACTGCCGTTTCCCCA	0.478																																						uc002itw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(193-195)CGG>CGA		carbonic anhydrase X							208.0	194.0	199.0					17																	50008434		2203	4300	6503	SO:0001819	synonymous_variant	56934				brain development			g.chr17:50008434C>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.195G>A	17.37:g.50008434C>T						CA10_uc002itv.3_Silent_p.R71R|CA10_uc002itx.3_Silent_p.R65R|CA10_uc002ity.3_Silent_p.R65R|CA10_uc002itz.2_Silent_p.R65R	p.R65R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1181	-			65					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.195G>A	CCDS32684.1																																																																																				PASS	0.478	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		7	83	7	83	---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52993166	52993166	+	Silent	SNP	C	C	T	rs141567240	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:52993166C>T	ENST00000575882.1	+	7	1016	c.663C>T	c.(661-663)gcC>gcT	p.A221A	TOM1L1_ENST00000572405.1_Silent_p.A186A|TOM1L1_ENST00000445275.2_Silent_p.A221A|TOM1L1_ENST00000348161.4_Silent_p.A144A|TOM1L1_ENST00000540336.1_Silent_p.A109A|TOM1L1_ENST00000536554.1_Silent_p.A144A|TOM1L1_ENST00000570371.1_Silent_p.A221A|TOM1L1_ENST00000572158.1_Silent_p.A214A|TOM1L1_ENST00000575333.1_Silent_p.A221A	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	221	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.A221A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGATGTCCGCCATATTGATGG	0.433																																						uc002iud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)GCC>GCT		target of myb1-like 1		C		0,4406		0,0,2203	215.0	191.0	199.0		663	0.0	0.7	17	dbSNP_134	199	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOM1L1	NM_005486.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		221/477	52993166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52993166C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.663C>T	17.37:g.52993166C>T						TOM1L1_uc002iub.2_Silent_p.A186A|TOM1L1_uc002iuc.2_Silent_p.A221A|TOM1L1_uc010dca.1_Silent_p.A221A|TOM1L1_uc010wnb.1_Silent_p.A214A|TOM1L1_uc010wnc.1_Silent_p.A144A|TOM1L1_uc010dbz.2_Silent_p.A144A|TOM1L1_uc010wnd.1_Silent_p.A109A|TOM1L1_uc010dcb.1_RNA	p.A221A	NM_005486	NP_005477	O75674	TM1L1_HUMAN			7	838	+			221			GAT.		Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	c.663C>T	CCDS11582.1																																																																																				PASS	0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		4	31	4	31	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71166359	71166359	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:71166359A>T	ENST00000357585.2	+	2	1270	c.901A>T	c.(901-903)Acc>Tcc	p.T301S	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.T301S	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	301					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.T301S(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGTGGTCCTCACCTATGCTAA	0.507																																						uc002jje.2																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)ACC>TCC		somatostatin receptor 2							171.0	144.0	153.0					17																	71166359		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166359A>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.901A>T	17.37:g.71166359A>T	ENSP00000350198:p.Thr301Ser						p.T301S	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1261	+			301			Helical; Name=7; (Potential).		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.901A>T	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	A	2.786	-0.252509	0.05829	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.37058	1.22;1.22	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.101733	0.64402	D	0.000003	T	0.10766	0.0263	N	0.00496	-1.435	0.36997	D	0.89505	B	0.02656	0.0	B	0.08055	0.003	T	0.28106	-1.0054	10	0.02654	T	1	.	15.0092	0.71536	1.0:0.0:0.0:0.0	.	301	P30874	SSR2_HUMAN	S	301	ENSP00000350198:T301S;ENSP00000326616:T301S	ENSP00000326616:T301S	T	+	1	0	SSTR2	68677954	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.168000	0.64978	2.084000	0.62774	0.533000	0.62120	ACC		PASS	0.507	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			26	77	26	77	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75208270	75208270	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:75208270G>A	ENST00000413679.2	+	15	2153	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	SEC14L1_ENST00000392476.2_Missense_Mutation_p.G617E|SEC14L1_ENST00000431431.2_Missense_Mutation_p.G583E|SEC14L1_ENST00000591437.1_Missense_Mutation_p.G583E|SEC14L1_ENST00000585618.1_Missense_Mutation_p.G617E|SEC14L1_ENST00000443798.4_Missense_Mutation_p.G617E|SEC14L1_ENST00000436233.4_Missense_Mutation_p.G617E|SEC14L1_ENST00000430767.4_Missense_Mutation_p.G617E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	617	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G617E(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAAAGAAGGAGAAAGCGTG	0.537																																						uc002jto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1849-1851)GGA>GAA		SEC14 (S. cerevisiae)-like 1 isoform a							105.0	113.0	111.0					17																	75208270		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208270G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1850G>A	17.37:g.75208270G>A	ENSP00000394716:p.Gly617Glu					SEC14L1_uc010dhc.2_Missense_Mutation_p.G617E|SEC14L1_uc010wth.1_Missense_Mutation_p.G617E|SEC14L1_uc002jtm.2_Missense_Mutation_p.G617E|SEC14L1_uc010wti.1_Missense_Mutation_p.G583E|SEC14L1_uc010wtj.1_Silent_p.R105R|SEC14L1_uc002jtr.2_Missense_Mutation_p.G11E	p.G617E	NM_003003	NP_002994	Q92503	S14L1_HUMAN			15	2117	+			617			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1850G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021396	0.93462	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.79454	-1.15;-1.15;-1.14;-1.14;-1.14;-1.27	5.19	5.19	0.71726	GOLD (2);	0.098189	0.64402	D	0.000001	D	0.88811	0.6538	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	D	0.90126	0.4203	10	0.87932	D	0	-33.322	18.055	0.89362	0.0:0.0:1.0:0.0	.	617;11;617	Q92503-2;Q6ZP00;Q92503	.;.;S14L1_HUMAN	E	617;617;617;617;617;583	ENSP00000376268:G617E;ENSP00000406030:G617E;ENSP00000390392:G617E;ENSP00000408169:G617E;ENSP00000394716:G617E;ENSP00000389838:G583E	ENSP00000376268:G617E	G	+	2	0	SEC14L1	72719865	1.000000	0.71417	0.967000	0.41034	0.972000	0.66771	9.333000	0.96459	2.570000	0.86706	0.655000	0.94253	GGA		PASS	0.537	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		39	170	39	170	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78039299	78039299	+	Missense_Mutation	SNP	G	G	A	rs375800869		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:78039299G>A	ENST00000397545.4	+	10	1483	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	CCDC40_ENST00000374877.3_Missense_Mutation_p.D486N|CCDC40_ENST00000269318.5_Missense_Mutation_p.D486N|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	486					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D486N(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CACCGAGATCGACGCCATCAG	0.627																																						uc010dht.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1456-1458)GAC>AAC		coiled-coil domain containing 40		G	ASN/ASP	1,4235		0,1,2117	59.0	69.0	65.0		1456	3.8	0.0	17		65	1,8443		0,1,4221	no	missense	CCDC40	NM_017950.3	23	0,2,6338	AA,AG,GG		0.0118,0.0236,0.0158	possibly-damaging	486/1143	78039299	2,12678	2118	4222	6340	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78039299G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1456G>A	17.37:g.78039299G>A	ENSP00000380679:p.Asp486Asn					CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.D269N	p.D486N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		10	1483	+	all_neural(118;0.167)		486					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1456G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249982	0.59212	2.36E-4	1.18E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.85629	0.73;-2.01;0.76	4.84	3.84	0.44239	.	.	.	.	.	D	0.87006	0.6070	M	0.71581	2.175	0.09310	N	1	D;D	0.61697	0.99;0.959	P;P	0.47915	0.56;0.561	T	0.79497	-0.1779	9	0.72032	D	0.01	-23.5606	14.0244	0.64577	0.0:0.3588:0.6412:0.0	.	486;269	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	N	486	ENSP00000364011:D486N;ENSP00000269318:D486N;ENSP00000380679:D486N	ENSP00000269318:D486N	D	+	1	0	CCDC40	75653894	0.971000	0.33674	0.005000	0.12908	0.027000	0.11550	3.503000	0.53340	0.992000	0.38840	0.655000	0.94253	GAC		PASS	0.627	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		18	67	18	67	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324284	31324284	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr18:31324284T>C	ENST00000269197.5	+	12	4472	c.4472T>C	c.(4471-4473)gTt>gCt	p.V1491A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1491					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.V1491A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGTCTCCGTTGAAAGCTCA	0.562											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4471-4473)GTT>GCT		additional sex combs like 3							44.0	46.0	45.0					18																	31324284		2202	4300	6502	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324284T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4472T>C	18.37:g.31324284T>C	ENSP00000269197:p.Val1491Ala		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.V1198A	p.V1491A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4527	+			1491					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4472T>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.592800	0.28357	.	.	ENSG00000141431	ENST00000269197	T	0.14893	2.47	6.16	6.16	0.99307	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.20672	-1.0268	9	0.56958	D	0.05	.	11.9619	0.53013	0.0:0.0:0.1443:0.8557	.	1491	Q9C0F0	ASXL3_HUMAN	A	1491	ENSP00000269197:V1491A	ENSP00000269197:V1491A	V	+	2	0	ASXL3	29578282	0.374000	0.25081	0.162000	0.22713	0.790000	0.44656	1.863000	0.39459	2.367000	0.80283	0.528000	0.53228	GTT		PASS	0.562	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			3	34	3	34	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47500812	47500812	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr18:47500812G>T	ENST00000285039.7	-	10	1529	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	410	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.A410A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGAACAACTGGGCATAGATGT	0.582																																						uc002leb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1228-1230)GCC>GCA		myosin VB							144.0	155.0	151.0					18																	47500812		2179	4268	6447	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500812G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1230C>A	18.37:g.47500812G>T						MYO5B_uc002lec.1_Silent_p.A409A	p.A410A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1518	-			410			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.1230C>A	CCDS42436.1																																																																																				PASS	0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	86	6	86	---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4217104	4217104	+	Silent	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:4217104A>G	ENST00000600132.1	+	18	2223	c.1947A>G	c.(1945-1947)gaA>gaG	p.E649E	ANKRD24_ENST00000318934.4_Silent_p.E649E|ANKRD24_ENST00000262970.5_Silent_p.E739E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	649								p.E515E(1)|p.E739E(1)|p.E649E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGCAGAGGAAGCAGAAATGC	0.597																																						uc010dtt.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(1945-1947)GAA>GAG		ankyrin repeat domain 24							51.0	60.0	57.0					19																	4217104		2115	4224	6339	SO:0001819	synonymous_variant	170961							g.chr19:4217104A>G	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1947A>G	19.37:g.4217104A>G						ANKRD24_uc002lzs.2_Silent_p.E620E|ANKRD24_uc002lzt.2_Silent_p.E621E	p.E649E	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2223	+			649					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.1947A>G	CCDS45925.1																																																																																				PASS	0.597	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		5	79	5	79	---	---	---	---
SH3GL1	6455	broad.mit.edu	37	19	4366964	4366964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:4366964C>A	ENST00000269886.3	-	2	251	c.73G>T	c.(73-75)Gag>Tag	p.E25*	SH3GL1_ENST00000417295.2_Nonsense_Mutation_p.E25*|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Nonsense_Mutation_p.E25*	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	25	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E25*(1)|p.E25K(1)		NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTGGTCCCCTCGGCCCCTCCG	0.602			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(2)	2						c.(73-75)GAG>TAG		SH3-domain GRB2-like 1							319.0	277.0	291.0					19																	4366964		2203	4300	6503	SO:0001587	stop_gained	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366964C>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.73G>T	19.37:g.4366964C>A	ENSP00000269886:p.Glu25*					SH3GL1_uc002mak.2_Nonsense_Mutation_p.E25*|SH3GL1_uc010xig.1_Nonsense_Mutation_p.E25*	p.E25*	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	2	179	-			25			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Nonsense_Mutation	SNP	ENST00000269886.3	37	c.73G>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	37	6.107202	0.97291	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.783	16.4683	0.84092	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000269886:E25X	E	-	1	0	SH3GL1	4317964	1.000000	0.71417	0.817000	0.32601	0.962000	0.63368	7.761000	0.85260	2.113000	0.64589	0.561000	0.74099	GAG		PASS	0.602	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		7	541	7	541	---	---	---	---
SEMA6B	10501	broad.mit.edu	37	19	4548318	4548318	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:4548318G>T	ENST00000586582.1	-	13	1721	c.1411C>A	c.(1411-1413)Ctc>Atc	p.L471I	RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.L471I|SEMA6B_ENST00000586965.1_Missense_Mutation_p.L471I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	471	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L471I(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACACTGAGCCCAGACGTC	0.632																																						uc010duc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1411-1413)CTC>ATC		semaphorin 6B precursor							52.0	52.0	52.0					19																	4548318		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548318G>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1411C>A	19.37:g.4548318G>T	ENSP00000467290:p.Leu471Ile					SEMA6B_uc010dud.2_Missense_Mutation_p.L471I|SEMA6B_uc010xih.1_Missense_Mutation_p.L471I	p.L471I	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1449	-		Hepatocellular(1079;0.137)	471			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1411C>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.777356	0.31411	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.22134	1.97	4.01	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.766093	0.12313	U	0.480047	T	0.13457	0.0326	N	0.02539	-0.55	0.24520	N	0.994168	B;B	0.30634	0.087;0.288	B;B	0.38156	0.266;0.18	T	0.38478	-0.9659	10	0.72032	D	0.01	.	14.9113	0.70758	0.0:0.0:1.0:0.0	.	471;471	B4DT36;Q9H3T3	.;SEM6B_HUMAN	I	471	ENSP00000301293:L471I	ENSP00000301292:L471I	L	-	1	0	SEMA6B	4499318	0.708000	0.27876	0.775000	0.31657	0.243000	0.25628	1.416000	0.34759	2.086000	0.62901	0.485000	0.47835	CTC		PASS	0.632	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		5	84	5	84	---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5641789	5641789	+	Silent	SNP	C	C	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:5641789C>T	ENST00000292123.5	+	4	485	c.378C>T	c.(376-378)atC>atT	p.I126I	SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000592224.1_Silent_p.I126I|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Silent_p.I126I|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	126					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I126I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGCAGGACATCGACATCATGG	0.498																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(376-378)ATC>ATT		scaffold attachment factor B							193.0	186.0	188.0					19																	5641789		2203	4300	6503	SO:0001819	synonymous_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641789C>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.378C>T	19.37:g.5641789C>T						SAFB_uc010xiq.1_Silent_p.I126I|SAFB_uc002mcg.2_Silent_p.I126I|SAFB_uc002mce.3_Silent_p.I126I|SAFB_uc010xir.1_Silent_p.I126I|SAFB_uc010xis.1_Intron|SAFB_uc010xit.1_Intron|SAFB_uc010xiu.1_Intron	p.I126I	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	4	431	+			126					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	ENST00000292123.5	37	c.378C>T	CCDS12142.1																																																																																				PASS	0.498	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			13	107	13	107	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056521	9056521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:9056521C>A	ENST00000397910.4	-	3	31128	c.30925G>T	c.(30925-30927)Gag>Tag	p.E10309*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10311	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E10309*(1)|p.E5942*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCCTGACTCTGTCCTAGAG	0.527																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30925-30927)GAG>TAG		mucin 16							101.0	103.0	103.0					19																	9056521		2073	4202	6275	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056521C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30925G>T	19.37:g.9056521C>A	ENSP00000381008:p.Glu10309*						p.E10309*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31129	-			10311			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.30925G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	48.279076	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.38	-0.406	0.12389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9371	0.47251	0.0:0.3907:0.6093:0.0	.	.	.	.	X	10309	.	ENSP00000381008:E10309X	E	-	1	0	MUC16	8917521	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.353000	0.07691	0.025000	0.15241	0.461000	0.40582	GAG		PASS	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	114	7	114	---	---	---	---
CDC37	11140	broad.mit.edu	37	19	10506132	10506132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:10506132C>A	ENST00000222005.2	-	3	519	c.466G>T	c.(466-468)Gag>Tag	p.E156*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	156					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.E156*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		ATCTGTTTCTCGTATTTTTCC	0.567																																						uc002mof.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(466-468)GAG>TAG		cell division cycle 37 protein							400.0	359.0	373.0					19																	10506132		2203	4300	6503	SO:0001587	stop_gained	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506132C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.466G>T	19.37:g.10506132C>A	ENSP00000222005:p.Glu156*					CDC37_uc002moe.1_Nonsense_Mutation_p.E111*|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Nonsense_Mutation_p.E156*|CDC37_uc002moh.2_Nonsense_Mutation_p.E156*	p.E156*	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	3	582	-			156					Q53YA2	Nonsense_Mutation	SNP	ENST00000222005.2	37	c.466G>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476447	0.96291	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.14	4.14	0.48551	.	0.062767	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.2766	0.66184	0.0:1.0:0.0:0.0	.	.	.	.	X	156	.	ENSP00000222005:E156X	E	-	1	0	CDC37	10367132	1.000000	0.71417	0.983000	0.44433	0.812000	0.45895	6.612000	0.74187	2.018000	0.59344	0.561000	0.74099	GAG		PASS	0.567	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		9	431	9	431	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610247	10610247	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:10610247C>A	ENST00000171111.5	-	2	1010	c.463G>T	c.(463-465)Gtc>Ttc	p.V155F	KEAP1_ENST00000393623.2_Missense_Mutation_p.V155F|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	155					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.V155F(2)		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)	CCGTTCATGACGTGGAGGACA	0.587																																						uc002moq.1																			2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(463-465)GTC>TTC		kelch-like ECH-associated protein 1							185.0	145.0	159.0					19																	10610247		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610247C>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.463G>T	19.37:g.10610247C>A	ENSP00000171111:p.Val155Phe					KEAP1_uc002mor.1_Missense_Mutation_p.V155F	p.V155F	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)		2	619	-			155					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.463G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042537	0.55003	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72725	-0.68;-0.68	4.81	2.54	0.30619	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.060118	0.64402	D	0.000003	T	0.80154	0.4571	M	0.73962	2.25	0.53688	D	0.999974	D	0.71674	0.998	D	0.67900	0.954	T	0.80955	-0.1151	10	0.87932	D	0	.	9.5904	0.39543	0.159:0.6873:0.1536:0.0	.	155	Q14145	KEAP1_HUMAN	F	155	ENSP00000171111:V155F;ENSP00000377245:V155F	ENSP00000171111:V155F	V	-	1	0	KEAP1	10471247	0.933000	0.31639	0.995000	0.50966	0.367000	0.29736	1.988000	0.40697	1.019000	0.39547	-0.304000	0.09214	GTC		PASS	0.587	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		25	49	25	49	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16962230	16962230	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:16962230G>C	ENST00000248054.5	+	6	755	c.734G>C	c.(733-735)gGa>gCa	p.G245A	SIN3B_ENST00000596802.1_Missense_Mutation_p.G245A|SIN3B_ENST00000379803.1_Missense_Mutation_p.G245A					SIN3 transcription regulator family member B									p.G245A(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTTCACAGGAAACGGGCCG	0.647																																						uc002ney.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(733-735)GGA>GCA		SIN3 homolog B, transcription regulator							74.0	74.0	74.0					19																	16962230		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16962230G>C	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.734G>C	19.37:g.16962230G>C	ENSP00000248054:p.Gly245Ala					SIN3B_uc002new.2_Missense_Mutation_p.G245A|SIN3B_uc002nex.2_Missense_Mutation_p.G177A|SIN3B_uc002nez.1_Missense_Mutation_p.G245A	p.G245A	NM_015260	NP_056075	O75182	SIN3B_HUMAN			6	748	+			245						Missense_Mutation	SNP	ENST00000248054.5	37	c.734G>C		.	.	.	.	.	.	.	.	.	.	G	13.47	2.248142	0.39697	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.44881	0.91;0.95	5.19	5.19	0.71726	.	0.053524	0.85682	D	0.000000	T	0.39036	0.1063	L	0.46157	1.445	0.80722	D	1	B;B;P	0.46952	0.112;0.154;0.887	B;B;P	0.44561	0.087;0.08;0.453	T	0.13764	-1.0497	10	0.10377	T	0.69	-8.9285	15.84	0.78837	0.0:0.0:1.0:0.0	.	245;245;245	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	A	245	ENSP00000369131:G245A;ENSP00000248054:G245A	ENSP00000248054:G245A	G	+	2	0	SIN3B	16823230	1.000000	0.71417	0.985000	0.45067	0.188000	0.23474	6.624000	0.74243	2.416000	0.81992	0.655000	0.94253	GGA		PASS	0.647	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		12	49	12	49	---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21605993	21605993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:21605993G>T	ENST00000355504.4	+	2	414	c.148G>T	c.(148-150)Gga>Tga	p.G50*	ZNF493_ENST00000392288.2_Nonsense_Mutation_p.G178*|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G178*(1)|p.G50*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAAACATACTGGAAAGAAACC	0.289																																						uc002npx.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(148-150)GGA>TGA		zinc finger protein 493 isoform 1							42.0	47.0	45.0					19																	21605993		2200	4288	6488	SO:0001587	stop_gained	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21605993G>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.148G>T	19.37:g.21605993G>T	ENSP00000347691:p.Gly50*					ZNF493_uc002npw.2_Nonsense_Mutation_p.G178*|ZNF493_uc002npy.2_Nonsense_Mutation_p.G50*	p.G50*	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	428	+			50					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	c.148G>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.64	2.595550	0.46318	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	1.05	-0.549	0.11829	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.6153	0.22773	0.4909:0.0:0.5091:0.0	.	.	.	.	X	178;50	.	ENSP00000347691:G50X	G	+	1	0	ZNF493	21397833	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.112000	0.10791	-1.634000	0.01537	-1.641000	0.00772	GGA		PASS	0.289	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		14	24	14	24	---	---	---	---
ZNF260	339324	broad.mit.edu	37	19	37005242	37005242	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:37005242C>A	ENST00000523638.1	-	3	2020	c.899G>T	c.(898-900)gGa>gTa	p.G300V	ZNF260_ENST00000588993.1_Missense_Mutation_p.G300V|ZNF260_ENST00000592282.1_Missense_Mutation_p.G300V|ZNF260_ENST00000593142.1_Missense_Mutation_p.G300V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	300					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G300V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGGTTTCTCTCCTGTATGAAT	0.353																																						uc002oee.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)GGA>GTA		zinc finger protein 260							135.0	128.0	130.0					19																	37005242		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005242C>A	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.899G>T	19.37:g.37005242C>A	ENSP00000429803:p.Gly300Val					ZNF260_uc002oed.1_Missense_Mutation_p.G297V|ZNF260_uc010eey.1_Missense_Mutation_p.G297V|ZNF260_uc002oef.1_Missense_Mutation_p.G297V	p.G300V	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1743	-	Esophageal squamous(110;0.162)		300					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.899G>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702366	0.68501	.	.	ENSG00000254004	ENST00000523638	T	0.23552	1.9	4.54	4.54	0.55810	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57110	0.2031	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66044	-0.6021	9	0.87932	D	0	.	16.5614	0.84567	0.0:1.0:0.0:0.0	.	300	Q3ZCT1	ZN260_HUMAN	V	300	ENSP00000429803:G300V	ENSP00000429803:G300V	G	-	2	0	ZNF260	41697082	0.009000	0.17119	1.000000	0.80357	0.996000	0.88848	1.082000	0.30803	2.496000	0.84212	0.561000	0.74099	GGA		PASS	0.353	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		4	26	4	26	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39002950	39002950	+	Nonsense_Mutation	SNP	C	C	A	rs148412985		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:39002950C>A	ENST00000359596.3	+	63	9299	c.9299C>A	c.(9298-9300)tCg>tAg	p.S3100*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.S3100*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.S3100*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3100					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S3100*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGAGTGCCTCGGAGGACATC	0.607																																						uc002oit.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9298-9300)TCG>TAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						73.0	71.0	72.0					19																	39002950		2203	4300	6503	SO:0001587	stop_gained	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39002950C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9299C>A	19.37:g.39002950C>A	ENSP00000352608:p.Ser3100*					RYR1_uc002oiu.2_Nonsense_Mutation_p.S3100*|RYR1_uc002oiv.1_Nonsense_Mutation_p.S20*|RYR1_uc010xuf.1_Nonsense_Mutation_p.S20*	p.S3100*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		63	9429	+	all_cancers(60;7.91e-06)		3100			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	37	c.9299C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	52	19.209510	0.99916	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	.	.	.	4.36	4.36	0.52297	.	0.090005	0.44902	U	0.000407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.6833	0.85298	0.0:1.0:0.0:0.0	.	.	.	.	X	3100;3100;3100;20	.	ENSP00000347667:S3100X	S	+	2	0	RYR1	43694790	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.633000	0.83260	2.243000	0.73865	0.591000	0.81541	TCG		PASS	0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	45	4	45	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39898388	39898388	+	Silent	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:39898388C>A	ENST00000248673.3	+	2	88	c.30C>A	c.(28-30)ctC>ctA	p.L10L	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000597629.1_Silent_p.L16L	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	10					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)	p.L10L(1)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCAGAGCCTCCTGTCGCTGA	0.667																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(28-30)CTC>CTA		zinc finger protein 36, C3H type, homolog							111.0	124.0	120.0					19																	39898388		2203	4300	6503	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898388C>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.30C>A	19.37:g.39898388C>A						ZFP36_uc010egn.1_5'UTR	p.L10L	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	88	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		10					B2RA54	Silent	SNP	ENST00000248673.3	37	c.30C>A																																																																																					PASS	0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	159	8	159	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40872569	40872569	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:40872569A>T	ENST00000409587.1	+	4	477	c.80A>T	c.(79-81)gAg>gTg	p.E27V	PLD3_ENST00000356508.5_Missense_Mutation_p.E27V|PLD3_ENST00000409281.1_Missense_Mutation_p.E27V|PLD3_ENST00000409419.1_Missense_Mutation_p.E27V|PLD3_ENST00000409735.4_Missense_Mutation_p.E27V			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	27					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.E27V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AATGAGATTGAGGCGTGGAAG	0.647																																						uc002onm.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(79-81)GAG>GTG		phospholipase D3							61.0	65.0	64.0					19																	40872569		2203	4300	6503	SO:0001583	missense	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872569A>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.80A>T	19.37:g.40872569A>T	ENSP00000387050:p.Glu27Val					PLD3_uc002onj.3_Missense_Mutation_p.E27V|PLD3_uc002onk.3_Missense_Mutation_p.E27V|PLD3_uc002onl.3_Missense_Mutation_p.E27V|PLD3_uc002onn.2_Missense_Mutation_p.E27V|PLD3_uc002ono.2_Missense_Mutation_p.E27V	p.E27V	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		4	478	+			27			Cytoplasmic (Potential).		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.80A>T	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533544	0.64972	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	T;T;T;T;T;T;T	0.47528	0.84;0.86;0.86;0.86;0.86;0.86;0.84	4.39	4.39	0.52855	.	0.272836	0.34628	N	0.003817	T	0.43478	0.1249	N	0.08118	0	0.32369	N	0.556107	D;B	0.69078	0.997;0.279	D;B	0.66196	0.942;0.034	T	0.52786	-0.8529	10	0.42905	T	0.14	-14.7634	10.3162	0.43738	1.0:0.0:0.0:0.0	.	27;27	B4DEL6;Q8IV08	.;PLD3_HUMAN	V	27	ENSP00000375886:E27V;ENSP00000386293:E27V;ENSP00000387050:E27V;ENSP00000348901:E27V;ENSP00000386938:E27V;ENSP00000387022:E27V;ENSP00000352220:E27V	ENSP00000348901:E27V	E	+	2	0	PLD3	45564409	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.530000	0.45641	2.205000	0.71048	0.533000	0.62120	GAG		PASS	0.647	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		10	42	10	42	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41351983	41351983	+	Missense_Mutation	SNP	G	G	A	rs201027514		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:41351983G>A	ENST00000301141.5	-	6	871	c.851C>T	c.(850-852)aCg>aTg	p.T284M	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	284					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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)	p.T284M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GTAGAACTCCGTGTTGGGGTT	0.562													.|||	1	0.000199681	0.0	0.0	5008	,	,		18613	0.0		0.001	False		,,,				2504	0.0					uc002opl.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(850-852)ACG>ATG		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						84.0	70.0	74.0					19																	41351983		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351983G>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.851C>T	19.37:g.41351983G>A	ENSP00000301141:p.Thr284Met					CYP2A6_uc010ehe.1_Missense_Mutation_p.T80M|CYP2A6_uc010ehf.1_RNA	p.T284M	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	872	-			284					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.851C>T	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	13.59	2.282724	0.40394	.	.	ENSG00000255974	ENST00000301141	T	0.68903	-0.36	1.99	1.99	0.26369	.	0.196538	0.42420	U	0.000701	T	0.71558	0.3354	L	0.46157	1.445	0.25390	N	0.988539	D;D	0.89917	1.0;0.999	D;D	0.74348	0.966;0.983	T	0.59123	-0.7513	10	0.54805	T	0.06	.	8.7036	0.34340	0.0:0.2377:0.7622:0.0	.	284;284	Q13120;P11509	.;CP2A6_HUMAN	M	284	ENSP00000301141:T284M	ENSP00000301141:T284M	T	-	2	0	CYP2A6	46043823	0.049000	0.20398	0.812000	0.32479	0.816000	0.46133	2.328000	0.43867	1.423000	0.47198	0.379000	0.24179	ACG		PASS	0.562	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		10	51	10	51	---	---	---	---
TMEM91	641649	broad.mit.edu	37	19	41888702	41888702	+	Nonsense_Mutation	SNP	C	C	A	rs201168439		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:41888702C>A	ENST00000392002.2	+	3	896	c.236C>A	c.(235-237)tCg>tAg	p.S79*	TMEM91_ENST00000604123.1_Nonsense_Mutation_p.S136*|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Nonsense_Mutation_p.S79*|TMEM91_ENST00000542945.1_Nonsense_Mutation_p.S79*|TMEM91_ENST00000539627.1_Nonsense_Mutation_p.S79*|TMEM91_ENST00000413014.2_Nonsense_Mutation_p.S79*|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000356385.4_Nonsense_Mutation_p.S79*|TMEM91_ENST00000544232.1_Nonsense_Mutation_p.S79*|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Nonsense_Mutation_p.S79*	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	79					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.S79*(2)		lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GACAGTGACTCGGACTGGGAT	0.572																																						uc002oqk.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(235-237)TCG>TAG		transmembrane protein 91 isoform a							336.0	337.0	337.0					19																	41888702		2103	4216	6319	SO:0001587	stop_gained	641649				response to biotic stimulus	integral to membrane		g.chr19:41888702C>A	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.236C>A	19.37:g.41888702C>A	ENSP00000375859:p.Ser79*					CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehq.2_Nonsense_Mutation_p.S79*|TMEM91_uc002oql.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehr.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehs.2_Nonsense_Mutation_p.S79*|TMEM91_uc010eht.2_Nonsense_Mutation_p.S79*|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Nonsense_Mutation_p.S79*	p.S79*	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN			3	587	+			79					C9J9D1|C9JZ62|C9K046|Q6P434	Nonsense_Mutation	SNP	ENST00000392002.2	37	c.236C>A	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367218	0.82463	.	.	ENSG00000142046	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385	.	.	.	4.52	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5764	0.50864	0.1783:0.8217:0.0:0.0	.	.	.	.	X	79	.	ENSP00000345589:S79X	S	+	2	0	TMEM91	46580542	0.987000	0.35691	0.997000	0.53966	0.767000	0.43475	2.811000	0.47986	2.507000	0.84556	0.505000	0.49811	TCG		PASS	0.572	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			9	321	9	321	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41932031	41932031	+	IGR	SNP	G	G	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:41932031G>C	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'UTR|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.P218R	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.P218R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTGGTTGAATGGGACGTCGAG	0.627																																						uc002oqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)CCA>CGA		UDP-GlcNAc:betaGal							64.0	65.0	64.0					19																	41932031		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932031G>C	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932031G>C						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.P218R	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	1107	-			218			Lumenal (Potential).		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.653C>G	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275214	0.59649	.	.	ENSG00000177191	ENST00000321702	T	0.41400	1.0	4.14	3.1	0.35709	.	0.293574	0.31797	N	0.007055	T	0.41789	0.1174	L	0.55481	1.735	0.35142	D	0.768976	P	0.43542	0.81	P	0.47402	0.546	T	0.55140	-0.8187	10	0.72032	D	0.01	.	5.797	0.18392	0.3097:0.0:0.6903:0.0	.	218	Q7Z7M8	B3GN8_HUMAN	R	218	ENSP00000312700:P218R	ENSP00000312700:P218R	P	-	2	0	B3GNT8	46623871	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	4.209000	0.58493	1.101000	0.41535	0.561000	0.74099	CCA		PASS	0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	27	4	27	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43575959	43575959	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:43575959A>T	ENST00000406487.1	-	4	955	c.857T>A	c.(856-858)cTg>cAg	p.L286Q		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	286	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L286Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGGATAAACAGATTTTGTCC	0.453																																						uc002ovr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CTG>CAG		pregnancy specific beta-1-glycoprotein 2							189.0	197.0	194.0					19																	43575959		2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575959A>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.857T>A	19.37:g.43575959A>T	ENSP00000385706:p.Leu286Gln					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L286Q|PSG2_uc010eiq.1_Missense_Mutation_p.L286Q|PSG2_uc002ovs.3_Missense_Mutation_p.L286Q|PSG2_uc002ovt.3_Missense_Mutation_p.L286Q	p.L286Q	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	950	-		Prostate(69;0.00682)	286			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.857T>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	a	11.38	1.622919	0.28889	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	D	0.89415	-2.51	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96414	0.8830	H	0.99851	4.845	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.99	D	0.87201	0.2241	9	0.87932	D	0	.	4.6249	0.12474	1.0:0.0:0.0:0.0	.	286;286	B5MCM8;P11465	.;PSG2_HUMAN	Q	286	ENSP00000385706:L286Q	ENSP00000332984:L286Q	L	-	2	0	PSG2	48267799	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.119000	0.31258	0.553000	0.29044	0.327000	0.21459	CTG		PASS	0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		19	228	19	228	---	---	---	---
ZNF225	7768	broad.mit.edu	37	19	44622462	44622462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:44622462C>A	ENST00000262894.6	+	3	417	c.137C>A	c.(136-138)tCa>tAa	p.S46*	ZNF225_ENST00000590612.1_Nonsense_Mutation_p.S46*|ZNF225_ENST00000592780.1_Nonsense_Mutation_p.S46*	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S46*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AACCTGCTCTCAGTGGGTGAG	0.517																																						uc002oyj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(136-138)TCA>TAA		zinc finger protein 225							186.0	172.0	176.0					19																	44622462		2203	4300	6503	SO:0001587	stop_gained	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44622462C>A	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.137C>A	19.37:g.44622462C>A	ENSP00000262894:p.Ser46*					ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Nonsense_Mutation_p.S46*	p.S46*	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			3	380	+		Prostate(69;0.0352)|all_neural(266;0.202)	46			KRAB.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Nonsense_Mutation	SNP	ENST00000262894.6	37	c.137C>A	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699636	0.88830	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2693	0.26248	0.0:0.7219:0.2781:0.0	.	.	.	.	X	46;10	.	ENSP00000262894:S46X	S	+	2	0	ZNF225	49314302	0.064000	0.20934	0.020000	0.16555	0.772000	0.43724	2.527000	0.45615	1.370000	0.46153	0.455000	0.32223	TCA		PASS	0.517	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			7	156	7	156	---	---	---	---
IGFL3	388555	broad.mit.edu	37	19	46627192	46627192	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:46627192C>A	ENST00000341415.2	-	3	325	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	101						extracellular region (GO:0005576)		p.G101C(1)		endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GACTTCATACCCAGAACCCTC	0.542																																						uc002pea.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGT>TGT		IGF-like family member 3 precursor							122.0	147.0	139.0					19																	46627192		2189	4300	6489	SO:0001583	missense	388555					extracellular region	protein binding	g.chr19:46627192C>A	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.301G>T	19.37:g.46627192C>A	ENSP00000344860:p.Gly101Cys						p.G101C	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	326	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	101						Missense_Mutation	SNP	ENST00000341415.2	37	c.301G>T	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669084	0.29604	.	.	ENSG00000188624	ENST00000341415	T	0.37411	1.2	1.43	1.43	0.22495	.	.	.	.	.	T	0.51398	0.1672	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24835	-1.0149	9	0.87932	D	0	-28.4717	6.2579	0.20884	0.0:1.0:0.0:0.0	.	101	Q6UXB1	IGFL3_HUMAN	C	101	ENSP00000344860:G101C	ENSP00000344860:G101C	G	-	1	0	IGFL3	51319032	0.005000	0.15991	0.003000	0.11579	0.018000	0.09664	1.198000	0.32223	1.088000	0.41272	0.411000	0.27672	GGT		PASS	0.542	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		7	194	7	194	---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54545432	54545432	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:54545432G>T	ENST00000338372.2	-	6	681	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	VSTM1_ENST00000366170.2_Missense_Mutation_p.S81Y|VSTM1_ENST00000376626.1_Missense_Mutation_p.S138Y|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	169					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S169Y(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CCTCTTGGTGGATTCCTCAGA	0.502																																						uc002qcw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)TCC>TAC		V-set and transmembrane domain containing 1							151.0	154.0	153.0					19																	54545432		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545432G>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.506C>A	19.37:g.54545432G>T	ENSP00000343366:p.Ser169Tyr					VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.S138Y	p.S169Y	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	6	682	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		169					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.506C>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340985	0.41498	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.53640	2.22;6.66;6.43;0.61	3.24	3.24	0.37175	.	0.864640	0.09428	U	0.803465	T	0.45478	0.1344	N	0.19112	0.55	0.31480	N	0.667271	D;D	0.71674	0.996;0.998	P;P	0.54372	0.75;0.75	T	0.48456	-0.9034	10	0.56958	D	0.05	-12.1574	10.3077	0.43691	0.0:0.0:1.0:0.0	.	138;169	D2DJS4;Q6UX27	.;VSTM1_HUMAN	Y	59;169;138;81	ENSP00000409412:S59Y;ENSP00000343366:S169Y;ENSP00000365813:S138Y;ENSP00000444153:S81Y	ENSP00000343366:S169Y	S	-	2	0	VSTM1	59237244	0.009000	0.17119	0.003000	0.11579	0.006000	0.05464	2.618000	0.46393	2.151000	0.67156	0.543000	0.68304	TCC		PASS	0.502	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		36	104	36	104	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56436016	56436016	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:56436016G>T	ENST00000342929.3	-	3	396	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q133K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	133							ATP binding (GO:0005524)	p.Q133K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCCTGGGTCTGCATATTCCCT	0.418																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(397-399)CAG>AAG		NACHT, leucine rich repeat and PYD containing							230.0	178.0	195.0					19																	56436016		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56436016G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.397C>A	19.37:g.56436016G>T	ENSP00000343891:p.Gln133Lys						p.Q133K	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	3	422	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	133					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.397C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.832957	0.00579	.	.	ENSG00000173572	ENST00000342929	T	0.71817	-0.6	1.24	1.24	0.21308	.	.	.	.	.	T	0.46814	0.1412	N	0.19112	0.55	0.09310	N	1	B	0.20368	0.044	B	0.18561	0.022	T	0.31943	-0.9925	9	0.06625	T	0.88	.	5.8653	0.18771	0.0:0.0:1.0:0.0	.	133	Q86W25	NAL13_HUMAN	K	133	ENSP00000343891:Q133K	ENSP00000343891:Q133K	Q	-	1	0	NLRP13	61127828	0.004000	0.15560	0.011000	0.14972	0.042000	0.13812	1.434000	0.34958	0.972000	0.38314	0.557000	0.71058	CAG		PASS	0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		9	45	9	45	---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57956622	57956622	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:57956622G>T	ENST00000334181.4	+	3	2356	c.2106G>T	c.(2104-2106)agG>agT	p.R702S	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	702					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.R615S(1)|p.R702S(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GTAAATGTAGGGAATTGTTTA	0.393																																						uc002qoq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2104-2106)AGG>AGT		zinc finger protein 749							63.0	63.0	63.0					19																	57956622		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956622G>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2106G>T	19.37:g.57956622G>T	ENSP00000333980:p.Arg702Ser					ZNF547_uc002qpm.3_Intron	p.R702S	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2360	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	702			C2H2-type 18.			Missense_Mutation	SNP	ENST00000334181.4	37	c.2106G>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886332	0.17540	.	.	ENSG00000186230	ENST00000334181	T	0.14266	2.52	1.66	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.03281	-0.365	0.09310	N	0.999994	B	0.14438	0.01	B	0.12156	0.007	T	0.36915	-0.9728	9	0.66056	D	0.02	.	6.7488	0.23475	0.4076:0.0:0.5924:0.0	.	702	O43361	ZN749_HUMAN	S	702	ENSP00000333980:R702S	ENSP00000333980:R702S	R	+	3	2	ZNF749	62648434	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-5.529000	0.00115	-0.547000	0.06207	0.313000	0.20887	AGG		PASS	0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		6	66	6	66	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639458	58639458	+	Silent	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:58639458G>T	ENST00000598312.1	-	4	1646	c.1413C>A	c.(1411-1413)acC>acA	p.T471T	ZNF329_ENST00000358067.4_Silent_p.T471T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	471					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.T471T(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCTGGTGCTTGGTCAGACAGG	0.507																																						uc002qrn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1411-1413)ACC>ACA		zinc finger protein 329							96.0	91.0	92.0					19																	58639458		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639458G>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1413C>A	19.37:g.58639458G>T						ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.T471T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1650	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	471			C2H2-type 10.		B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1413C>A	CCDS12972.1																																																																																				PASS	0.507	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		9	75	9	75	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3211213	3211213	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr20:3211213G>T	ENST00000380056.3	-	11	1458	c.1411C>A	c.(1411-1413)Ctt>Att	p.L471I	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000539553.2_Missense_Mutation_p.L455I|SLC4A11_ENST00000380059.3_Missense_Mutation_p.L498I	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	471	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.L471I(1)|p.L498I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TAAAGCGCAAGGAAGAAACTA	0.542																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1411-1413)CTT>ATT		solute carrier family 4 member 11							110.0	110.0	110.0					20																	3211213		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211213G>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1411C>A	20.37:g.3211213G>T	ENSP00000369396:p.Leu471Ile					SLC4A11_uc010zqe.1_Missense_Mutation_p.L498I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L455I	p.L471I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			11	1459	-			471			Helical; (Potential).|Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1411C>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383311	0.61845	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78003	-1.14;-1.14;-1.14	5.07	5.07	0.68467	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.87977	0.6314	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.88817	0.3296	10	0.56958	D	0.05	.	18.037	0.89307	0.0:0.0:1.0:0.0	.	455;498;471	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	I	498;471;455	ENSP00000369399:L498I;ENSP00000369396:L471I;ENSP00000441370:L455I	ENSP00000369396:L471I	L	-	1	0	SLC4A11	3159213	1.000000	0.71417	0.987000	0.45799	0.102000	0.19082	9.487000	0.97945	2.342000	0.79632	0.563000	0.77884	CTT		PASS	0.542	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			6	136	6	136	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20505105	20505105	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr20:20505105G>A	ENST00000202677.7	-	30	3852	c.3845C>T	c.(3844-3846)gCa>gTa	p.A1282V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1282					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.A1282V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCTAGGACTGCTGTGGACAC	0.542																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3844-3846)GCA>GTA		akt substrate AS250							59.0	58.0	59.0					20																	20505105		2014	4187	6201	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20505105G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3845C>T	20.37:g.20505105G>A	ENSP00000202677:p.Ala1282Val					RALGAPA2_uc010gcx.2_Missense_Mutation_p.A986V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A730V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A54V	p.A1282V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			30	3988	-			1282					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3845C>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.426|4.426	0.078725|0.078725	0.08533|0.08533	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.67345|.	-0.26|.	4.96|4.96	-0.949|-0.949	0.10376|0.10376	.|.	0.812162|.	0.11270|.	N|.	0.581532|.	T|.	0.34832|.	0.0911|.	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.002|.	T|.	0.33650|.	-0.9860|.	10|.	0.33141|.	T|.	0.24|.	.|.	6.719|6.719	0.23321|0.23321	0.4786:0.1181:0.4032:0.0|0.4786:0.1181:0.4032:0.0	.|.	1120;1282;1282|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	V|X	1282|1099	ENSP00000202677:A1282V|.	ENSP00000202677:A1282V|.	A|Q	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20453105|20453105	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.033000|0.033000	0.12548|0.12548	0.643000|0.643000	0.24750|0.24750	-0.215000|-0.215000	0.10063|0.10063	-0.355000|-0.355000	0.07637|0.07637	GCA|CAG		PASS	0.542	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	48	6	48	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829592	57829592	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr20:57829592A>T	ENST00000371030.2	+	5	4828	c.4828A>T	c.(4828-4830)Agt>Tgt	p.S1610C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1610							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1610C(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)					CTCTTTAGGAAGTGACGGTAG	0.498																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4828-4830)AGT>TGT		zinc finger protein 831							86.0	82.0	83.0					20																	57829592		1887	4124	6011	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829592A>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.4828A>T	20.37:g.57829592A>T	ENSP00000360069:p.Ser1610Cys						p.S1610C	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4828	+	all_lung(29;0.0085)		1610					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4828A>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833884	0.50951	.	.	ENSG00000124203	ENST00000371030	T	0.05855	3.38	5.66	-2.65	0.06095	.	1.037880	0.07614	N	0.925912	T	0.07999	0.0200	L	0.46157	1.445	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.30650	-0.9971	10	0.66056	D	0.02	1.5009	5.8351	0.18602	0.3927:0.3839:0.2234:0.0	.	1610	Q5JPB2	ZN831_HUMAN	C	1610	ENSP00000360069:S1610C	ENSP00000360069:S1610C	S	+	1	0	ZNF831	57262987	0.003000	0.15002	0.000000	0.03702	0.351000	0.29236	0.006000	0.13152	-0.472000	0.06881	0.528000	0.53228	AGT		PASS	0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	56	10	56	---	---	---	---
PDGFB	5155	broad.mit.edu	37	22	39631864	39631864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:39631864C>A	ENST00000331163.6	-	2	866	c.79G>T	c.(79-81)Gag>Tag	p.E27*	PDGFB_ENST00000381551.4_Nonsense_Mutation_p.E12*	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	27					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.E27*(2)|p.E12*(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					TAAAGCTCCTCGGGAATGGGG	0.607			T	COL1A1	DFSP																																	uc003axf.2				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(372)	3	Substitution - Nonsense(3)		lung(3)	soft_tissue(372)|central_nervous_system(1)	373						c.(79-81)GAG>TAG		platelet-derived growth factor beta isoform 1	Becaplermin(DB00102)						53.0	52.0	52.0					22																	39631864		2203	4300	6503	SO:0001587	stop_gained	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39631864C>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.79G>T	22.37:g.39631864C>A	ENSP00000330382:p.Glu27*					PDGFB_uc003axe.2_Nonsense_Mutation_p.E12*	p.E27*	NM_002608	NP_002599	P01127	PDGFB_HUMAN			2	1068	-	Melanoma(58;0.04)		27					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Nonsense_Mutation	SNP	ENST00000331163.6	37	c.79G>T	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	C	44	11.221208	0.99533	.	.	ENSG00000100311	ENST00000331163;ENST00000381551	.	.	.	5.55	5.55	0.83447	.	0.185522	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.9165	19.4924	0.95056	0.0:1.0:0.0:0.0	.	.	.	.	X	27;12	.	ENSP00000330382:E27X	E	-	1	0	PDGFB	37961810	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.136000	0.50554	2.601000	0.87937	0.561000	0.74099	GAG		PASS	0.607	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		3	17	3	17	---	---	---	---
PMM1	5372	broad.mit.edu	37	22	41980049	41980049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:41980049C>A	ENST00000216259.7	-	5	472	c.388G>T	c.(388-390)Gag>Tag	p.E130*	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	130					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.E130*(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TTCCGGAACTCGATGAAGGTT	0.592																																						uc003bal.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(388-390)GAG>TAG		phosphomannomutase 1							92.0	83.0	87.0					22																	41980049		2203	4300	6503	SO:0001587	stop_gained	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980049C>A		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.388G>T	22.37:g.41980049C>A	ENSP00000216259:p.Glu130*						p.E130*	NM_002676	NP_002667	Q92871	PMM1_HUMAN			5	450	-			130					A8K003|Q92586	Nonsense_Mutation	SNP	ENST00000216259.7	37	c.388G>T	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085443	0.94100	.	.	ENSG00000100417	ENST00000216259	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.7467	19.1954	0.93686	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	ENSP00000216259:E130X	E	-	1	0	PMM1	40309995	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.703000	0.84585	2.537000	0.85549	0.563000	0.77884	GAG		PASS	0.592	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		4	57	4	57	---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43575988	43575988	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:43575988G>A	ENST00000216129.6	-	4	628	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	189					cellular protein modification process (GO:0006464)			p.P189S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TACCACACCGGCATCTTCTCC	0.612																																						uc003bdq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(565-567)CCG>TCG		tubulin tyrosine ligase-like family, member 12							149.0	123.0	132.0					22																	43575988		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575988G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.565C>T	22.37:g.43575988G>A	ENSP00000216129:p.Pro189Ser					TTLL12_uc003bdr.1_Missense_Mutation_p.P189S	p.P189S	NM_015140	NP_055955	Q14166	TTL12_HUMAN			4	597	-		Ovarian(80;0.221)|Glioma(61;0.222)	189					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.565C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.122977	0.37436	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.06849	3.25	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	M	0.79805	2.47	0.80722	D	1	B;B	0.29886	0.26;0.165	B;B	0.30572	0.117;0.081	T	0.00701	-1.1603	10	0.62326	D	0.03	-3.2902	14.0319	0.64619	0.0721:0.0:0.9279:0.0	.	189;189	B1AH89;Q14166	.;TTL12_HUMAN	S	189	ENSP00000216129:P189S	ENSP00000216129:P189S	P	-	1	0	TTLL12	41905932	1.000000	0.71417	0.996000	0.52242	0.039000	0.13416	7.457000	0.80775	2.681000	0.91329	0.655000	0.94253	CCG		PASS	0.612	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		12	111	12	111	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44583692	44583692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:44583692G>T	ENST00000444313.3	+	5	665	c.181G>T	c.(181-183)Gag>Tag	p.E61*	PARVG_ENST00000415224.1_Nonsense_Mutation_p.E61*|PARVG_ENST00000422871.1_Nonsense_Mutation_p.E61*	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	61	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.E61*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCTTCTCCCCGAGCACATTGT	0.597																																						uc011aqe.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(181-183)GAG>TAG		parvin, gamma							176.0	130.0	146.0					22																	44583692		2203	4300	6503	SO:0001587	stop_gained	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583692G>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.181G>T	22.37:g.44583692G>T	ENSP00000391583:p.Glu61*					PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.E61*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.E61*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.E61*	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			5	605	+		Ovarian(80;0.024)|all_neural(38;0.0299)	61			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Nonsense_Mutation	SNP	ENST00000444313.3	37	c.181G>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448698	0.97577	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	.	.	.	3.83	3.83	0.44106	.	0.067994	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.3641	13.3012	0.60326	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000349378:E61X	E	+	1	0	PARVG	42915025	1.000000	0.71417	0.887000	0.34795	0.423000	0.31445	5.130000	0.64745	1.970000	0.57323	0.555000	0.69702	GAG		PASS	0.597	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		4	41	4	41	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46652800	46652800	+	Silent	SNP	T	T	C			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:46652800T>C	ENST00000253255.5	-	1	6419	c.6420A>G	c.(6418-6420)gaA>gaG	p.E2140E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2140					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.E2140E(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATTGGAAAATTCAGTGTTCT	0.418																																						uc003bhh.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)	5						c.(6418-6420)GAA>GAG		receptor for egg jelly-like protein precursor							59.0	60.0	60.0					22																	46652800		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652800T>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6420A>G	22.37:g.46652800T>C							p.E2140E	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6420	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2140			Extracellular (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.6420A>G	CCDS14073.1																																																																																				PASS	0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		10	51	10	51	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46712232	46712232	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:46712232G>T	ENST00000454366.1	+	7	1567	c.1355G>T	c.(1354-1356)cGa>cTa	p.R452L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	433					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.R452L(1)|p.R433L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATCAGACGGCGAGATTCCTGT	0.413																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1354-1356)CGA>CTA		G-2 and S-phase expressed 1							86.0	101.0	96.0					22																	46712232		2191	4296	6487	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46712232G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1355G>T	22.37:g.46712232G>T	ENSP00000415430:p.Arg452Leu					GTSE1_uc011aqz.1_Missense_Mutation_p.R299L|GTSE1_uc003bhl.1_Missense_Mutation_p.R77L|GTSE1_uc003bhm.1_Missense_Mutation_p.R77L	p.R452L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	7	1567	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	433					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1355G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373496	0.82573	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07567	3.18	5.11	-7.36	0.01417	.	0.891796	0.09802	N	0.753984	T	0.14830	0.0358	M	0.70595	2.14	0.09310	N	1	D;D	0.59767	0.986;0.986	P;P	0.57101	0.725;0.813	T	0.02238	-1.1190	10	0.40728	T	0.16	-1.3342	7.4169	0.27050	0.4939:0.2039:0.3023:0.0	.	433;412	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	L	452;412	ENSP00000415430:R452L	ENSP00000354634:R412L	R	+	2	0	GTSE1	45090896	0.002000	0.14202	0.000000	0.03702	0.896000	0.52359	-0.216000	0.09266	-0.868000	0.04058	-0.145000	0.13849	CGA		PASS	0.413	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		6	185	6	185	---	---	---	---
PIM3	415116	broad.mit.edu	37	22	50356382	50356382	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr22:50356382A>G	ENST00000360612.4	+	5	1097	c.662A>G	c.(661-663)tAc>tGc	p.Y221C		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y221C(1)					all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TACCACCGCTACCACGGGCGC	0.652																																						uc003bjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)TAC>TGC		serine/threonine protein kinase pim-3							59.0	60.0	60.0					22																	50356382		2203	4300	6503	SO:0001583	missense	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356382A>G	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.662A>G	22.37:g.50356382A>G	ENSP00000353824:p.Tyr221Cys					PIM3_uc011arj.1_5'UTR	p.Y221C	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	5	1115	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	221			Protein kinase.		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	c.662A>G	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	a	18.35	3.605719	0.66445	.	.	ENSG00000198355	ENST00000360612	T	0.66638	-0.22	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.167510	0.41500	U	0.000874	D	0.83454	0.5258	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86621	0.1879	10	0.87932	D	0	.	13.9992	0.64421	1.0:0.0:0.0:0.0	.	221	Q86V86	PIM3_HUMAN	C	221	ENSP00000353824:Y221C	ENSP00000353824:Y221C	Y	+	2	0	PIM3	48742386	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	6.690000	0.74567	1.992000	0.58205	0.492000	0.49549	TAC		PASS	0.652	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852		7	26	7	26	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53279723	53279723	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chrX:53279723G>A	ENST00000375368.5	-	4	2205	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R679W|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R474W			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	669					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R679W(1)|p.R676W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCCAACCTCCGACCCCCAGCC	0.647																																						uc004dsd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2035-2037)CGG>TGG		IQ motif and Sec7 domain 2 isoform1							35.0	31.0	33.0					X																	53279723		2203	4299	6502	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53279723G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2005C>T	X.37:g.53279723G>A	ENSP00000364517:p.Arg669Trp					IQSEC2_uc004dsc.2_Missense_Mutation_p.R474W	p.R679W	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			5	2236	-			669					B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2035C>T		.	.	.	.	.	.	.	.	.	.	g	16.91	3.253909	0.59212	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.12465	2.68;2.68;2.7	4.71	4.71	0.59529	.	1.174330	0.05902	N	0.630118	T	0.09992	0.0245	N	0.08118	0	0.36232	D	0.852685	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.002	T	0.10337	-1.0634	10	0.72032	D	0.01	.	11.5208	0.50549	0.0:0.1774:0.8226:0.0	.	679;474	Q5JU85-2;Q5JU85-3	.;.	W	679;669;474	ENSP00000379712:R679W;ENSP00000364517:R669W;ENSP00000364514:R474W	ENSP00000364514:R474W	R	-	1	2	IQSEC2	53296448	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.563000	0.60823	2.181000	0.69327	0.597000	0.82753	CGG		PASS	0.647	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		8	8	8	8	---	---	---	---
TEX11	56159	broad.mit.edu	37	X	69898679	69898679	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chrX:69898679C>G	ENST00000395889.2	-	16	1417	c.1262G>C	c.(1261-1263)tGg>tCg	p.W421S	TEX11_ENST00000374333.2_Missense_Mutation_p.W406S|TEX11_ENST00000344304.3_Missense_Mutation_p.W421S|TEX11_ENST00000374320.2_Missense_Mutation_p.W96S	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	421					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.W406S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGCTTGTCTCCACAGAATGTT	0.343																																						uc004dyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1261-1263)TGG>TCG		testis expressed sequence 11 isoform 1							116.0	102.0	106.0					X																	69898679		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69898679C>G	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1262G>C	X.37:g.69898679C>G	ENSP00000379226:p.Trp421Ser					TEX11_uc004dyk.2_Missense_Mutation_p.W96S|TEX11_uc004dym.2_Missense_Mutation_p.W406S	p.W421S	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			16	1424	-	Renal(35;0.156)		421					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1262G>C	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518089	0.44763	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.81245	0.4782	M	0.71581	2.175	0.53688	D	0.999979	D;D	0.89917	0.999;1.0	D;D	0.75484	0.976;0.986	T	0.81669	-0.0828	9	.	.	.	-3.6971	11.5948	0.50966	0.0:1.0:0.0:0.0	.	406;421	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	S	406;421;96;421	ENSP00000363453:W406S;ENSP00000379226:W421S;ENSP00000363440:W96S;ENSP00000340995:W421S	.	W	-	2	0	TEX11	69815404	1.000000	0.71417	0.926000	0.36857	0.479000	0.33129	4.311000	0.59147	2.116000	0.64780	0.513000	0.50165	TGG		PASS	0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			4	14	4	14	---	---	---	---
TCEAL2	140597	broad.mit.edu	37	X	101381881	101381881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chrX:101381881G>T	ENST00000372780.1	+	3	298	c.79G>T	c.(79-81)Gag>Tag	p.E27*	TCEAL2_ENST00000329035.2_Nonsense_Mutation_p.E27*	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E27*(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GCCACCGCACGAGGGAAAGCC	0.433																																						uc004eip.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(79-81)GAG>TAG		transcription elongation factor A (SII)-like 2							111.0	102.0	105.0					X																	101381881		2203	4300	6503	SO:0001587	stop_gained	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381881G>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.79G>T	X.37:g.101381881G>T	ENSP00000361866:p.Glu27*						p.E27*	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	298	+			27					B2R5C7	Nonsense_Mutation	SNP	ENST00000372780.1	37	c.79G>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728334	0.30593	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	.	.	.	2.57	-1.25	0.09405	.	1.296020	0.05487	N	0.555891	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.0187	0.06069	0.4505:0.2308:0.3187:0.0	.	.	.	.	X	27	.	ENSP00000332359:E27X	E	+	1	0	TCEAL2	101268537	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.106000	0.10890	-0.426000	0.07360	-0.263000	0.10527	GAG		PASS	0.433	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		4	85	4	85	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153036446	153036446	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chrX:153036446G>T	ENST00000361971.5	+	12	2277	c.2163G>T	c.(2161-2163)tgG>tgT	p.W721C	PLXNB3_ENST00000538282.1_Missense_Mutation_p.W331C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.W374C|PLXNB3_ENST00000538966.1_Missense_Mutation_p.W744C|PLXNB3_ENST00000538543.1_Missense_Mutation_p.G191V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	721					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.W721C(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTGCTGGCTGGAGCTGC	0.652																																						uc004fii.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2161-2163)TGG>TGT		plexin B3 isoform 1							70.0	59.0	63.0					X																	153036446		2202	4296	6498	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036446G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2163G>T	X.37:g.153036446G>T	ENSP00000355378:p.Trp721Cys					PLXNB3_uc011mzb.1_Missense_Mutation_p.G177V|PLXNB3_uc011mzc.1_Missense_Mutation_p.W403C|PLXNB3_uc010nuk.2_Missense_Mutation_p.W744C|PLXNB3_uc011mzd.1_Missense_Mutation_p.W360C	p.W721C	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			12	2337	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		721			Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2163G>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.78|12.78	2.041009|2.041009	0.35989|0.35989	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538543|ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T|T;T;T;T	0.21932|0.66995	1.98|5.31;5.27;4.69;-0.24	5.31|5.31	4.43|4.43	0.53597|0.53597	.|.	.|0.608108	.|0.16938	.|N	.|0.193398	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.63428|0.63428	1.95|1.95	0.53688|0.53688	D|D	0.999977|0.999977	D|P;D;D;P	0.89917|0.76494	1.0|0.939;0.999;0.988;0.939	D|P;P;P;P	0.85130|0.61328	0.997|0.76;0.887;0.77;0.662	T|T	0.72164|0.72164	-0.4373|-0.4373	8|10	.|0.37606	.|T	.|0.19	.|.	9.9492|9.9492	0.41628|0.41628	0.1004:0.0:0.8996:0.0|0.1004:0.0:0.8996:0.0	.|.	191|374;403;744;721	F5GZZ4|B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.|.;.;.;PLXB3_HUMAN	V|C	191|744;721;374;331	ENSP00000444086:G191V|ENSP00000442736:W744C;ENSP00000355378:W721C;ENSP00000445569:W374C;ENSP00000441919:W331C	.|ENSP00000355378:W721C	G|W	+|+	2|3	0|0	PLXNB3|PLXNB3	152689640|152689640	0.918000|0.918000	0.31147|0.31147	1.000000|1.000000	0.80357|0.80357	0.344000|0.344000	0.29017|0.29017	1.175000|1.175000	0.31944|0.31944	2.202000|2.202000	0.70862|0.70862	0.464000|0.464000	0.42555|0.42555	GGC|TGG		PASS	0.652	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			21	19	21	19	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26192226	26192228	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr7:26192226_26192228delGCC	ENST00000056233.3	+	1	367_369	c.108_110delGCC	c.(106-111)ctgccg>ctg	p.P39del		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	39	Leu-rich.				transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACCTGCTGCTGCCGCCGCCCACC	0.724																																						uc003sxq.2																			0				skin(3)|ovary(1)	4						c.(106-111)CTGCCG>CTG		nuclear factor erythroid 2-like 3																																				SO:0001651	inframe_deletion	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26192226_26192228delGCC	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.108_110delGCC	7.37:g.26192232_26192234delGCC	ENSP00000056233:p.Pro39del						p.P39del	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			1	380_382	+			39			Leu-rich.		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	In_Frame_Del	DEL	ENST00000056233.3	37	c.108_110delGCC	CCDS5396.1																																																																																					0.724	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	2	4	2	---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132903768	132903768	+	IGR	DEL	A	A	-	rs63372961|rs11299315		TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr9:132903768delA	ENST00000372406.1	+	0	7353				AL360004.1_ENST00000358748.1_3'UTR	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				actctgtcttaaaaaaaaaaa	0.473																																						uc004bzh.1																			0													Homo sapiens cDNA FLJ46836 fis, clone UTERU2029660.																																				SO:0001628	intergenic_variant	0							g.chr9:132903768delA	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804		9.37:g.132903768delA														2		-								A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	RNA	DEL	ENST00000372406.1	37	c.2379delT	CCDS48041.1																																																																																					0.473	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			4	2	4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr17:7578213_7578214delAA	ENST00000269305.4	-	6	824_825	c.635_636delTT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)	CACTATGTCGAAAAGTGTTTCT	0.535		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		45	Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(5)	p.F212fs*3(7)|p.0?(7)|p.F212L(3)|p.F212S(2)|p.F212I(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.F212fs*4(1)|p.F212Y(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|oesophagus(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|stomach(1)|soft_tissue(1)|liver(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	CD011205	TP53	D		c.(634-636)TTTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578213_7578214delAA	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.635_636delTT	17.37:g.7578215_7578216delAA	ENSP00000269305:p.Phe212fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs	p.F212fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	829_830	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> S (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> V (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.635_636delTT	CCDS11118.1																																																																																					0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	13	29	13	---	---	---	---
Unknown	0	broad.mit.edu	37	19	47141196	47141197	+	IGR	INS	-	-	CTGT	rs200943079|rs368872354|rs144076797	byFrequency	TCGA-18-3407-01A-01D-0983-08	TCGA-18-3407-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5b09119-0237-4804-a4f9-b67d676b8674	09e5f5f4-5e35-4b88-a266-25649c08bb77	g.chr19:47141196_47141197insCTGT								GNG8 (3254 upstream) : DACT3 (9671 downstream)																							GCCAACACAGACTGACACTCAC	0.554														1407	0.28095	0.2927	0.2594	5008	,	,		21888	0.4077		0.1044	False		,,,				2504	0.3313					uc002pez.1																			0													Homo sapiens cDNA FLJ10148 fis, clone HEMBA1003370.																																				SO:0001628	intergenic_variant	0							g.chr19:47141196_47141197insCTGT																													19.37:g.47141196_47141197insCTGT														1		-									RNA	INS		37	c.1222_1223insACAG																																																																																				0		0.554									3	4	3	4	---	---	---	---
