#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CHD5	26038	broad.mit.edu	37	1	6188917	6188917	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:6188917G>C	ENST00000262450.3	-	23	3699	c.3600C>G	c.(3598-3600)ctC>ctG	p.L1200L	CHD5_ENST00000378021.1_Silent_p.L57L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGTCCTTGAAGAGTTCCTCCG	0.667																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(3598-3600)CTC>CTG		chromodomain helicase DNA binding protein 5							55.0	43.0	47.0					1																	6188917		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6188917G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3600C>G	1.37:g.6188917G>C						CHD5_uc001alz.1_Silent_p.L57L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.L1200L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	23	3700	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1200					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.3600C>G	CCDS57.1																																																																																				0.667	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		6	69	0	0	0	0.248553	0	6	69		
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:11105485C>T	ENST00000400897.3	-	4	539	c.524G>A	c.(523-525)cGt>cAt	p.R175H	MASP2_ENST00000400898.3_Missense_Mutation_p.R175H	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	175	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCGCTTGTTACGGTGCAGGAC	0.687																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(523-525)CGT>CAT		mannan-binding lectin serine protease 2 isoform							57.0	57.0	57.0					1																	11105485		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11105485C>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.524G>A	1.37:g.11105485C>T	ENSP00000383690:p.Arg175His					MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H	p.R175H	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	4	545	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	175			EGF-like; calcium-binding.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.524G>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230130	0.22542	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	D;D	0.92149	-2.98;-2.98	4.23	-3.2	0.05156	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	1.258880	0.05693	N	0.592613	D	0.83298	0.5224	N	0.12920	0.275	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.12837	0.008;0.001	T	0.70189	-0.4940	10	0.51188	T	0.08	.	8.2169	0.31516	0.0:0.5626:0.1474:0.29	.	175;175	O00187-2;O00187	.;MASP2_HUMAN	H	175	ENSP00000383690:R175H;ENSP00000383691:R175H	ENSP00000383690:R175H	R	-	2	0	MASP2	11028072	0.000000	0.05858	0.015000	0.15790	0.328000	0.28507	-0.881000	0.04179	-0.495000	0.06659	-0.448000	0.05591	CGT		0.687	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1		NM_006610		29	47	0	0	0	0.788014	0	29	47		
UBR4	23352	broad.mit.edu	37	1	19491418	19491418	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:19491418C>T	ENST00000375254.3	-	32	4413	c.4386G>A	c.(4384-4386)gtG>gtA	p.V1462V	UBR4_ENST00000375267.2_Silent_p.V1462V|UBR4_ENST00000375217.2_Silent_p.V1462V|UBR4_ENST00000375226.2_Silent_p.V1462V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1462					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGCAGGCGCACAGGTTCCA	0.577																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4384-4386)GTG>GTA		retinoblastoma-associated factor 600							57.0	58.0	58.0					1																	19491418		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491418C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4386G>A	1.37:g.19491418C>T						UBR4_uc001bbm.1_Silent_p.V673V	p.V1462V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4390	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1462					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4386G>A	CCDS189.1																																																																																				0.577	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		11	59	0	0	0	0.435327	0	11	59		
MACF1	23499	broad.mit.edu	37	1	39801075	39801075	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:39801075C>G	ENST00000372915.3	+	36	8917	c.8830C>G	c.(8830-8832)Caa>Gaa	p.Q2944E	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.Q2939E|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2976E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1379E|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2944					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q1379E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGAAAATCAAGGGGAAGT	0.378																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4135-4137)CAA>GAA		microfilament and actin filament cross-linker							49.0	53.0	52.0					1																	39801075		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801075C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8830C>G	1.37:g.39801075C>G	ENSP00000362006:p.Gln2944Glu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q1379E	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4266	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2944					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4135C>G		.	.	.	.	.	.	.	.	.	.	C	7.787	0.710716	0.15239	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62639	0.01;1.02	5.09	4.12	0.48240	.	1.314950	0.05256	N	0.514845	T	0.54415	0.1857	N	0.24115	0.695	0.09310	N	0.99999	B	0.22003	0.063	B	0.30316	0.114	T	0.47420	-0.9119	10	0.87932	D	0	.	10.009	0.41975	0.2014:0.7986:0.0:0.0	.	2944	Q9UPN3	MACF1_HUMAN	E	2944;1379	ENSP00000362006:Q2944E;ENSP00000289893:Q1379E	ENSP00000289893:Q1379E	Q	+	1	0	MACF1	39573662	0.230000	0.23740	0.225000	0.23894	0.931000	0.56810	2.359000	0.44142	2.371000	0.80710	0.467000	0.42956	CAA		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		8	81	0	0	0	0.361761	0	8	81		
KCNQ4	9132	broad.mit.edu	37	1	41285143	41285143	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:41285143C>T	ENST00000347132.5	+	5	915	c.833C>T	c.(832-834)aCg>aTg	p.T278M	KCNQ4_ENST00000509682.2_Splice_Site_p.T278M|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	278					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGGTGGGGGACGGTGCGTGAG	0.627																																						uc001cgh.1		NaN																	0				central_nervous_system(1)	1						c.(832-834)ACG>ATG		potassium voltage-gated channel KQT-like protein							109.0	96.0	101.0					1																	41285143		2203	4300	6503	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285143C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.834+1C>T	1.37:g.41285143C>T						KCNQ4_uc001cgi.1_Missense_Mutation_p.T278M	p.T278M	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		5	915	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	278					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.833C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924149	0.92319	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98455	-4.94;-4.94	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	N	0.13043	0.29	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.919;0.999	D	0.99293	1.0899	10	0.66056	D	0.02	-17.3241	15.9666	0.79979	0.0:1.0:0.0:0.0	.	278;278	P56696-2;P56696	.;KCNQ4_HUMAN	M	278	ENSP00000262916:T278M;ENSP00000423756:T278M	ENSP00000262916:T278M	T	+	2	0	KCNQ4	41057730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.104000	0.57790	2.354000	0.79902	0.563000	0.77884	ACG		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1		NM_004700	Missense_Mutation	9	149	0	0	0	0.361761	0	9	149		
ZFYVE9	9372	broad.mit.edu	37	1	52740153	52740153	+	Missense_Mutation	SNP	C	C	G	rs368907401		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:52740153C>G	ENST00000371591.1	+	7	2774	c.2643C>G	c.(2641-2643)ttC>ttG	p.F881L	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.F881L|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.F822L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	881					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTTGTCTATTCTCTGGGAGTA	0.398																																						uc001cto.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(2641-2643)TTC>TTG		zinc finger, FYVE domain containing 9 isoform 3							169.0	160.0	163.0					1																	52740153		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52740153C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2643C>G	1.37:g.52740153C>G	ENSP00000360647:p.Phe881Leu					ZFYVE9_uc001ctp.2_Missense_Mutation_p.F822L	p.F881L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			8	2815	+			881					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.2643C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810116	0.32053	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.36520	1.28;1.25;1.25	5.27	4.36	0.52297	.	0.000000	0.64402	D	0.000017	T	0.22936	0.0554	N	0.22421	0.69	0.44995	D	0.998015	B;B	0.25169	0.119;0.038	B;B	0.22753	0.041;0.04	T	0.05115	-1.0905	10	0.19590	T	0.45	.	11.0044	0.47624	0.0:0.8509:0.0:0.1491	.	822;881	O95405-2;O95405	.;ZFYV9_HUMAN	L	822;881;881	ENSP00000349737:F822L;ENSP00000287727:F881L;ENSP00000360647:F881L	ENSP00000287727:F881L	F	+	3	2	ZFYVE9	52512741	0.999000	0.42202	0.999000	0.59377	0.645000	0.38454	0.537000	0.23144	1.230000	0.43646	0.655000	0.94253	TTC		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		6	190	0	0	0	0.307466	0	6	190		
INADL	10207	broad.mit.edu	37	1	62614061	62614061	+	Splice_Site	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:62614061G>C	ENST00000371158.2	+	42	5491	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1793					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAAGACACAGAGTGAGTATT	0.478																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(5377-5379)GAG>CAG		InaD-like							120.0	113.0	115.0					1																	62614061		1929	4130	6059	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62614061G>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5378+1G>C	1.37:g.62614061G>C						INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.E577Q	p.E1793Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			42	5491	+			1793					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5377G>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718947	0.48622	.	.	ENSG00000132849	ENST00000371158	T	0.12774	2.65	5.31	5.31	0.75309	.	0.084489	0.48286	D	0.000196	T	0.13756	0.0333	L	0.34521	1.04	0.80722	D	1	B	0.27416	0.178	B	0.25140	0.058	T	0.05321	-1.0892	10	0.37606	T	0.19	.	18.9801	0.92752	0.0:0.0:1.0:0.0	.	1793	Q8NI35	INADL_HUMAN	Q	1793	ENSP00000360200:E1793Q	ENSP00000360200:E1793Q	E	+	1	0	INADL	62386649	1.000000	0.71417	0.958000	0.39756	0.245000	0.25701	8.403000	0.90208	2.475000	0.83589	0.555000	0.69702	GAG		0.478	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	Missense_Mutation	35	95	0	0	0	0.819951	0	35	95		
LRRC53	100144878	broad.mit.edu	37	1	74954930	74954930	+	Intron	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:74954930G>A	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.E727K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E841K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E828K			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTGCAACATTGAGGTAAAAGC	0.373																																						uc001dgf.1		NaN																	0				large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2179-2181)GAG>AAG		TNNI3 interacting kinase isoform b							70.0	80.0	76.0					1																	74954930		2203	4300	6503	SO:0001627	intron_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74954930G>A			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5871C>T	1.37:g.74954930G>A						TNNI3K_uc001dge.1_Missense_Mutation_p.E828K	p.E727K	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			22	2230	+			727						Missense_Mutation	SNP	ENST00000294635.4	37	c.2179G>A		.	.	.	.	.	.	.	.	.	.	G	18.34	3.601700	0.66445	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.34667	1.35;1.35;1.35	4.85	4.85	0.62838	Protein kinase-like domain (1);	0.052267	0.85682	D	0.000000	T	0.14743	0.0356	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.28291	0.131;0.206	B;B	0.31101	0.027;0.124	T	0.05402	-1.0887	10	0.28530	T	0.3	.	18.9279	0.92552	0.0:0.0:1.0:0.0	.	727;828	Q59H18;Q59H18-1	TNI3K_HUMAN;.	K	828;828;727	ENSP00000450895:E828K;ENSP00000359928:E828K;ENSP00000322251:E727K	ENSP00000322251:E727K	E	+	1	0	RP11-653A5.2;AC093158.1	74727518	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.839000	0.92120	2.637000	0.89404	0.644000	0.83932	GAG		0.373	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2				6	63	0	0	0	0.217242	0	6	63		
ZNHIT6	54680	broad.mit.edu	37	1	86173471	86173471	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:86173471T>C	ENST00000370574.3	-	1	630	c.497A>G	c.(496-498)aAg>aGg	p.K166R	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.K127R			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	166	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCAACAAACTTCTCCTCCTG	0.408																																						uc001dlh.2		NaN																	0				large_intestine(1)	1						c.(496-498)AAG>AGG		zinc finger, HIT type 6							285.0	265.0	272.0					1																	86173471		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173471T>C	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.497A>G	1.37:g.86173471T>C	ENSP00000359606:p.Lys166Arg					ZNHIT6_uc010osc.1_Missense_Mutation_p.K127R	p.K166R	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			1	631	-			166			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.497A>G	CCDS707.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533169	0.27387	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.43688	0.95;0.94	4.31	-0.725	0.11174	.	.	.	.	.	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.23058	0.002;0.079	B;B	0.18263	0.001;0.021	T	0.39583	-0.9607	9	0.09843	T	0.71	2.0969	3.3664	0.07204	0.5319:0.0:0.1527:0.3155	.	127;166	B4DP13;Q9NWK9	.;BCD1_HUMAN	R	127;166	ENSP00000414344:K127R;ENSP00000359606:K166R	ENSP00000359606:K166R	K	-	2	0	ZNHIT6	85946059	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.055000	0.11807	-0.233000	0.09797	-0.669000	0.03829	AAG		0.408	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1		NM_017953		29	237	0	0	0	0.819951	0	29	237		
FAM212B	55924	broad.mit.edu	37	1	112269624	112269624	+	Missense_Mutation	SNP	G	G	A	rs112881255		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:112269624G>A	ENST00000357260.5	-	2	1041	c.860C>T	c.(859-861)tCa>tTa	p.S287L	FAM212B_ENST00000444059.2_Missense_Mutation_p.S272L|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	287										cervix(1)|endometrium(1)	2						ATCAAATCCTGAGGGTGAGTG	0.597																																						uc001ebo.1		NaN																	0				ovary(2)	2						c.(859-861)TCA>TTA		hypothetical protein LOC55924 isoform 1							146.0	160.0	155.0					1																	112269624		2203	4300	6503	SO:0001583	missense	55924							g.chr1:112269624G>A	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.860C>T	1.37:g.112269624G>A	ENSP00000349805:p.Ser287Leu					C1orf183_uc001ebp.1_Missense_Mutation_p.S272L	p.S287L	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)	2	1018	-		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)	287					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.860C>T	CCDS841.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850633	0.51270	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	5.12	4.19	0.49359	.	0.458169	0.22098	N	0.064655	T	0.14313	0.0346	N	0.24115	0.695	0.09310	N	1	P;B	0.34724	0.465;0.137	B;B	0.31101	0.124;0.058	T	0.06643	-1.0815	9	0.54805	T	0.06	-1.4554	14.1596	0.65438	0.0:0.1572:0.8428:0.0	.	272;287	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	L	287;272	.	ENSP00000349805:S287L	S	-	2	0	C1orf183	112071147	0.995000	0.38212	0.027000	0.17364	0.846000	0.48090	7.408000	0.80041	1.124000	0.41980	0.561000	0.74099	TCA		0.597	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2		NM_019099		34	310	0	0	0	0.859065	0	34	310		
AMPD1	270	broad.mit.edu	37	1	115220970	115220970	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:115220970G>C	ENST00000520113.2	-	8	1190	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C	AMPD1_ENST00000369538.3_Missense_Mutation_p.S388C|AMPD1_ENST00000353928.6_Missense_Mutation_p.S359C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	392					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACATCCAGAGAATCAACAGT	0.428																																						uc001efe.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1075-1077)TCT>TGT		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						160.0	152.0	155.0					1																	115220970		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220970G>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1175C>G	1.37:g.115220970G>C	ENSP00000430075:p.Ser392Cys					AMPD1_uc001eff.1_Missense_Mutation_p.S355C	p.S359C	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1160	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	359					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1076C>G	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408861	0.83340	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.95656	-3.77;-3.77;-3.77	5.1	5.1	0.69264	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.98068	1.0397	10	0.72032	D	0.01	-18.7278	18.8767	0.92341	0.0:0.0:1.0:0.0	.	388;359	Q5TF02;P23109	.;AMPD1_HUMAN	C	392;388;359	ENSP00000430075:S392C;ENSP00000358551:S388C;ENSP00000316520:S359C	ENSP00000316520:S359C	S	-	2	0	AMPD1	115022493	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.539000	0.85634	0.561000	0.74099	TCT		0.428	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4				19	150	0	0	0	0.639603	0	19	150		
LYSMD1	388695	broad.mit.edu	37	1	151134376	151134376	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:151134376C>G	ENST00000368908.5	-	2	1041	c.381G>C	c.(379-381)gaG>gaC	p.E127D	LYSMD1_ENST00000440902.2_Missense_Mutation_p.E79D	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	127										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTCCTGTCTCTTGTTTCT	0.507																																						uc001ewy.2		NaN																	0					0						c.(379-381)GAG>GAC		LysM, putative peptidoglycan-binding, domain							211.0	174.0	187.0					1																	151134376		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134376C>G	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.381G>C	1.37:g.151134376C>G	ENSP00000357904:p.Glu127Asp					LYSMD1_uc010pcr.1_Missense_Mutation_p.E79D	p.E127D	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1017	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		127					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.381G>C	CCDS986.1	.	.	.	.	.	.	.	.	.	.	C	3.160	-0.172415	0.06421	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.33438	1.41;1.41	5.56	0.46	0.16684	.	0.545867	0.20537	N	0.090400	T	0.08044	0.0201	L	0.57536	1.79	0.09310	N	1	B;B	0.20671	0.047;0.001	B;B	0.16289	0.015;0.003	T	0.38887	-0.9640	10	0.12766	T	0.61	-9.8038	5.4279	0.16436	0.1289:0.4264:0.0:0.4446	.	79;127	Q96S90-2;Q96S90	.;LYSM1_HUMAN	D	127;79	ENSP00000357904:E127D;ENSP00000404059:E79D	ENSP00000357904:E127D	E	-	3	2	LYSMD1	149401000	0.001000	0.12720	0.006000	0.13384	0.355000	0.29361	0.220000	0.17660	0.054000	0.16065	-0.229000	0.12294	GAG		0.507	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3		NM_212551		10	70	0	0	0	0.335167	0	10	70		
FLG	2312	broad.mit.edu	37	1	152282758	152282758	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:152282758G>C	ENST00000368799.1	-	3	4639	c.4604C>G	c.(4603-4605)tCa>tGa	p.S1535*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1535	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)			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)			TCTGGGTCCTGACTGCCCATG	0.567									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4603-4605)TCA>TGA		filaggrin							307.0	296.0	299.0					1																	152282758		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152282758G>C	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.4604C>G	1.37:g.152282758G>C	ENSP00000357789:p.Ser1535*						p.S1535*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4640	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1535			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.4604C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	40	8.000614	0.98602	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.74	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4762	0.27378	0.0:0.2701:0.7299:0.0	.	.	.	.	X	1535	.	ENSP00000357789:S1535X	S	-	2	0	FLG	150549382	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.545000	0.23268	0.457000	0.26962	0.472000	0.43445	TCA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		47	377	0	0	0	0.870114	0	47	377		
SEMA4A	64218	broad.mit.edu	37	1	156131202	156131202	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:156131202C>G	ENST00000368285.3	+	9	1143	c.876C>G	c.(874-876)ctC>ctG	p.L292L	SEMA4A_ENST00000368284.1_Silent_p.L160L|SEMA4A_ENST00000368282.1_Silent_p.L292L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.L292L|SEMA4A_ENST00000368286.2_Silent_p.L160L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	292	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCCAGCTGCTCTGCACCCAGC	0.667																																						uc001fnl.2		NaN																	0				ovary(1)|skin(1)	2						c.(874-876)CTC>CTG		semaphorin B precursor							54.0	51.0	52.0					1																	156131202		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156131202C>G	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.876C>G	1.37:g.156131202C>G						SEMA4A_uc009wrq.2_Silent_p.L292L|SEMA4A_uc001fnm.2_Silent_p.L292L|SEMA4A_uc001fnn.2_Silent_p.L160L|SEMA4A_uc001fno.2_Silent_p.L292L	p.L292L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			9	980	+	Hepatocellular(266;0.158)		292			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.876C>G	CCDS1132.1																																																																																				0.667	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		16	102	0	0	0	0.520397	0	16	102		
PAPPA2	60676	broad.mit.edu	37	1	176564215	176564215	+	Missense_Mutation	SNP	C	C	T	rs116090626	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:176564215C>T	ENST00000367662.3	+	3	2639	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S492L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	492	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCTGTCGCCTTTGCAG	0.522													C|||	20	0.00399361	0.0121	0.0043	5008	,	,		21112	0.0		0.001	False		,,,				2504	0.0					uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1474-1476)TCG>TTG		pappalysin 2 isoform 1		C	LEU/SER,LEU/SER	40,3878		2,36,1921	64.0	66.0	65.0		1475,1475	3.2	1.0	1	dbSNP_132	65	0,8318		0,0,4159	yes	missense,missense	PAPPA2	NM_020318.2,NM_021936.2	145,145	2,36,6080	TT,TC,CC		0.0,1.0209,0.3269	possibly-damaging,possibly-damaging	492/1792,492/828	176564215	40,12196	1959	4159	6118	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564215C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1475C>T	1.37:g.176564215C>T	ENSP00000356634:p.Ser492Leu					PAPPA2_uc001gky.1_Missense_Mutation_p.S492L|PAPPA2_uc009www.2_RNA	p.S492L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2639	+			492			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1475C>T	CCDS41438.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	10.36	1.329820	0.24167	0.010209	0.0	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.40756	1.02;1.02	5.18	3.15	0.36227	.	0.482176	0.21679	N	0.070742	T	0.34164	0.0888	L	0.49350	1.555	0.09310	N	0.999999	B;D	0.69078	0.226;0.997	B;P	0.48815	0.025;0.591	T	0.21690	-1.0238	10	0.49607	T	0.09	-8.8022	11.3511	0.49587	0.1764:0.7106:0.1129:0.0	.	492;492	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	L	492	ENSP00000356634:S492L;ENSP00000356633:S492L	ENSP00000356633:S492L	S	+	2	0	PAPPA2	174830838	0.301000	0.24444	0.965000	0.40720	0.008000	0.06430	1.643000	0.37217	2.404000	0.81709	0.650000	0.86243	TCG		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				21	35	0	0	0	0.608945	0	21	35		
TLR5	7100	broad.mit.edu	37	1	223284277	223284277	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:223284277G>T	ENST00000540964.1	-	4	2558	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	TLR5_ENST00000342210.6_Missense_Mutation_p.F699L			O60602	TLR5_HUMAN	toll-like receptor 5	699	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTTTGCTGCTGAAGCACAAAT	0.438																																						uc001hnv.1		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(2095-2097)TTC>TTA		toll-like receptor 5 precursor							66.0	66.0	66.0					1																	223284277		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284277G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2097C>A	1.37:g.223284277G>T	ENSP00000440643:p.Phe699Leu					TLR5_uc001hnw.1_Missense_Mutation_p.F699L	p.F699L	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2543	-			699		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	Cytoplasmic (Potential).|TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2097C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172835	0.78452	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.03717	3.83;3.83;3.83	5.59	5.59	0.84812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.124704	0.53938	D	0.000042	T	0.20047	0.0482	M	0.89287	3.02	0.43724	D	0.996203	D	0.76494	0.999	D	0.77557	0.99	T	0.00171	-1.1960	10	0.72032	D	0.01	.	10.1089	0.42550	0.1484:0.0:0.8516:0.0	.	699	O60602	TLR5_HUMAN	L	699	ENSP00000440643:F699L;ENSP00000355846:F699L;ENSP00000340089:F699L	ENSP00000340089:F699L	F	-	3	2	TLR5	221350900	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.409000	0.59768	2.622000	0.88805	0.650000	0.86243	TTC		0.438	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003268		4	90	1	0	0.000602214	0.184627	0.000619927	4	90		
FBXO28	23219	broad.mit.edu	37	1	224318184	224318184	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:224318184G>C	ENST00000366862.5	+	2	321	c.278G>C	c.(277-279)aGa>aCa	p.R93T	FBXO28_ENST00000424254.2_Missense_Mutation_p.R93T	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	93	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.R93K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTTTGTAAAAGAATGGACTTG	0.373																																						uc001hoh.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|kidney(2)|lung(1)	5						c.(277-279)AGA>ACA		F-box protein 28 isoform a							112.0	108.0	110.0					1																	224318184		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224318184G>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.278G>C	1.37:g.224318184G>C	ENSP00000355827:p.Arg93Thr					FBXO28_uc009xef.2_Missense_Mutation_p.R93T|FBXO28_uc010pvc.1_5'UTR	p.R93T	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	2	319	+	Breast(184;0.206)		93			F-box.		E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.278G>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308426	0.81247	.	.	ENSG00000143756	ENST00000366862;ENST00000424254	T;T	0.25414	1.8;1.8	5.42	4.51	0.55191	F-box domain, cyclin-like (2);	0.099081	0.64402	D	0.000001	T	0.33118	0.0852	L	0.61218	1.895	0.80722	D	1	P;B	0.43938	0.822;0.157	P;B	0.46172	0.506;0.126	T	0.09335	-1.0679	10	0.52906	T	0.07	-15.8317	11.6523	0.51297	0.082:0.0:0.918:0.0	.	93;93	E9PEM8;Q9NVF7	.;FBX28_HUMAN	T	93	ENSP00000355827:R93T;ENSP00000416888:R93T	ENSP00000355827:R93T	R	+	2	0	FBXO28	222384807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.225000	0.95219	1.424000	0.47217	0.655000	0.94253	AGA		0.373	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2		NM_015176		8	74	0	0	0	0.307466	0	8	74		
RYR2	6262	broad.mit.edu	37	1	237947659	237947659	+	Missense_Mutation	SNP	C	C	T	rs375950722		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:237947659C>T	ENST00000366574.2	+	90	12964	c.12647C>T	c.(12646-12648)gCg>gTg	p.A4216V	RYR2_ENST00000360064.6_Missense_Mutation_p.A4222V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A4200V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A4214V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGGTCAGCGAATAAGGAA	0.542																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12646-12648)GCG>GTG		cardiac muscle ryanodine receptor		C	VAL/ALA	1,4015		0,1,2007	70.0	76.0	74.0		12647	3.1	0.0	1		74	0,8368		0,0,4184	no	missense	RYR2	NM_001035.2	64	0,1,6191	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	4216/4968	237947659	1,12383	2008	4184	6192	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947659C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12647C>T	1.37:g.237947659C>T	ENSP00000355533:p.Ala4216Val					RYR2_uc010pya.1_Missense_Mutation_p.A631V	p.A4216V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12767	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4216					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12647C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122672	0.20877	2.49E-4	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97404	-4.37;-4.37;-4.37	5.11	3.1	0.35709	.	0.387049	0.21579	N	0.072279	D	0.91821	0.7412	L	0.29908	0.895	0.09310	N	0.999999	B;D	0.58268	0.222;0.982	B;B	0.41571	0.032;0.36	D	0.85685	0.1303	10	0.30078	T	0.28	.	5.3777	0.16174	0.1557:0.6188:0.0:0.2255	.	1190;4216	B4DGV4;Q92736	.;RYR2_HUMAN	V	4216;4222;4200;1190	ENSP00000355533:A4216V;ENSP00000353174:A4222V;ENSP00000443798:A4200V	ENSP00000353174:A4222V	A	+	2	0	RYR2	236014282	0.017000	0.18338	0.004000	0.12327	0.958000	0.62258	0.808000	0.27154	1.384000	0.46424	0.655000	0.94253	GCG		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		25	40	0	0	0	0.729181	0	25	40		
GDF2	2658	broad.mit.edu	37	10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:48414152G>A	ENST00000249598.1	-	2	875	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	239					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GATGTCCAGCGTGTCGCAGCC	0.582																																						uc001jfa.1		NaN																	0				ovary(2)|skin(1)	3						c.(715-717)ACG>ATG		growth differentiation factor 2 precursor							78.0	76.0	77.0					10																	48414152		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414152G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.716C>T	10.37:g.48414152G>A	ENSP00000249598:p.Thr239Met						p.T239M	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	879	-			239					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.716C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	9.982	1.228392	0.22542	.	.	ENSG00000128802	ENST00000249598	T	0.65732	-0.17	5.7	0.856	0.19019	Transforming growth factor-beta, N-terminal (1);	0.601453	0.20434	N	0.092407	T	0.45377	0.1339	L	0.29908	0.895	0.09310	N	1	P	0.43431	0.807	B	0.41088	0.347	T	0.33777	-0.9855	10	0.48119	T	0.1	.	6.2356	0.20760	0.0:0.1552:0.3106:0.5342	.	239	Q9UK05	GDF2_HUMAN	M	239	ENSP00000249598:T239M	ENSP00000249598:T239M	T	-	2	0	GDF2	48034158	0.003000	0.15002	0.569000	0.28460	0.250000	0.25880	-0.334000	0.07883	-0.083000	0.12618	-0.335000	0.08231	ACG		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1		NM_016204		24	36	0	0	0	0.639603	0	24	36		
PPP3CB	5532	broad.mit.edu	37	10	75214224	75214224	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:75214224G>C	ENST00000360663.5	-	10	1243	c.1132C>G	c.(1132-1134)Ctg>Gtg	p.L378V	PPP3CB_ENST00000394829.2_Missense_Mutation_p.L378V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.L378V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.L378V|PPP3CB_ENST00000544628.1_Missense_Mutation_p.L6V|PPP3CB_ENST00000545874.1_Missense_Mutation_p.L292V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.L396V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	378					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CAAATACTCAGAACATTTACC	0.303																																						uc001jue.2		NaN																	0				skin(1)	1						c.(1132-1134)CTG>GTG		protein phosphatase 3, catalytic subunit, beta							131.0	126.0	128.0					10																	75214224		2203	4299	6502	SO:0001583	missense	5532							g.chr10:75214224G>C	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1132C>G	10.37:g.75214224G>C	ENSP00000353881:p.Leu378Val					PPP3CB_uc001juf.2_Missense_Mutation_p.L378V|PPP3CB_uc001jug.2_Missense_Mutation_p.L378V|PPP3CB_uc001jui.2_Missense_Mutation_p.L396V|PPP3CB_uc001juh.2_Missense_Mutation_p.L292V|PPP3CB_uc010qkj.1_Missense_Mutation_p.L6V	p.L378V	NM_021132	NP_066955	P16298	PP2BB_HUMAN			10	1267	-	Prostate(51;0.0119)		378					P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1132C>G	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135104	0.77662	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26	5.99	5.08	0.68730	.	0.000000	0.56097	D	0.000037	T	0.29976	0.0750	M	0.80847	2.515	0.58432	D	0.999994	D;P;D;D;D	0.65815	0.995;0.932;0.994;0.983;0.96	D;P;P;D;D	0.83275	0.996;0.862;0.873;0.972;0.914	T	0.03784	-1.1004	10	0.87932	D	0	.	12.1413	0.53998	0.1485:0.0:0.8515:0.0	.	396;292;378;378;378	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	V	378;378;378;41;6;31;378;292;396	ENSP00000353881:L378V;ENSP00000378306:L378V;ENSP00000378305:L378V;ENSP00000437596:L6V;ENSP00000343147:L378V;ENSP00000439876:L292V;ENSP00000378299:L396V	ENSP00000343147:L378V	L	-	1	2	PPP3CB	74884230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.500000	0.45381	1.515000	0.48885	0.655000	0.94253	CTG		0.303	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1		NM_021132		10	110	0	0	0	0.435327	0	10	110		
KIF20B	9585	broad.mit.edu	37	10	91511157	91511157	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:91511157A>G	ENST00000371728.3	+	24	4216	c.4151A>G	c.(4150-4152)cAg>cGg	p.Q1384R	KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1384R|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1414R|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1344R|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1384					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTAGAAGAACAGGAACAAACT	0.358																																						uc001kgs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4150-4152)CAG>CGG		M-phase phosphoprotein 1							160.0	166.0	164.0					10																	91511157		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91511157A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4151A>G	10.37:g.91511157A>G	ENSP00000360793:p.Gln1384Arg					KIF20B_uc001kgr.1_Missense_Mutation_p.Q1344R|KIF20B_uc001kgt.1_Missense_Mutation_p.Q595R|KIF20B_uc009xtw.1_RNA	p.Q1384R	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			24	4223	+			1384					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.4151A>G		.	.	.	.	.	.	.	.	.	.	A	25.8	4.679093	0.88542	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;D;T	0.82167	-1.41;-1.47;-1.58;-1.48	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000100	D	0.90310	0.6969	M	0.70275	2.135	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.90165	0.4231	10	0.46703	T	0.11	-16.9831	16.2787	0.82658	1.0:0.0:0.0:0.0	.	1384;1344	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	R	1344;1414;1384;1384	ENSP00000260753:Q1344R;ENSP00000411545:Q1414R;ENSP00000377830:Q1384R;ENSP00000360793:Q1384R	ENSP00000260753:Q1344R	Q	+	2	0	KIF20B	91501137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.071000	0.76770	2.301000	0.77427	0.523000	0.50628	CAG		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195		27	223	0	0	0	0.769981	0	27	223		
UBTD1	80019	broad.mit.edu	37	10	99327844	99327844	+	Missense_Mutation	SNP	G	G	A	rs369010339		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:99327844G>A	ENST00000370664.3	+	2	580	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	82										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAAGCCAACGACCACGAGCT	0.637																																					Pancreas(100;169 2668 32720)	uc001knv.1		NaN																	0					0						c.(244-246)GAC>AAC		ubiquitin domain containing 1		G	ASN/ASP	0,4406		0,0,2203	72.0	75.0	74.0		244	5.7	0.9	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBTD1	NM_024954.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	82/228	99327844	1,13005	2203	4300	6503	SO:0001583	missense	80019							g.chr10:99327844G>A	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.244G>A	10.37:g.99327844G>A	ENSP00000359698:p.Asp82Asn						p.D82N	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	2	437	+		Colorectal(252;0.162)	82					D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	c.244G>A	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328518	0.81690	0.0	1.16E-4	ENSG00000165886	ENST00000370664	T	0.54866	0.55	5.72	5.72	0.89469	.	0.044063	0.85682	D	0.000000	T	0.76385	0.3980	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76198	-0.3047	10	0.49607	T	0.09	-32.3352	19.8793	0.96891	0.0:0.0:1.0:0.0	.	82	Q9HAC8	UBTD1_HUMAN	N	82	ENSP00000359698:D82N	ENSP00000359698:D82N	D	+	1	0	UBTD1	99317834	1.000000	0.71417	0.931000	0.37212	0.006000	0.05464	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GAC		0.637	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1		NM_024954		34	76	0	0	0	0.870114	0	34	76		
INPP5F	22876	broad.mit.edu	37	10	121551496	121551496	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:121551496C>T	ENST00000361976.2	+	5	726	c.560C>T	c.(559-561)tCc>tTc	p.S187F	INPP5F_ENST00000369083.3_Missense_Mutation_p.S187F|INPP5F_ENST00000369081.1_Missense_Mutation_p.S91F	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGACCAATTCCGTGCAGAGG	0.507																																						uc001leo.2		NaN																	0				ovary(2)	2						c.(559-561)TCC>TTC		inositol polyphosphate-5-phosphatase F							171.0	172.0	172.0					10																	121551496		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121551496C>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.560C>T	10.37:g.121551496C>T	ENSP00000354519:p.Ser187Phe					INPP5F_uc001len.3_Missense_Mutation_p.S187F	p.S187F	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	726	+		Lung NSC(174;0.109)|all_lung(145;0.142)	187			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.560C>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148772	0.78001	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T;T	0.60299	0.2;0.2;0.2	5.68	5.68	0.88126	Synaptojanin, N-terminal (2);	0.290266	0.34853	N	0.003624	T	0.81767	0.4892	M	0.91459	3.21	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.68943	0.947;0.961	D	0.85420	0.1142	10	0.87932	D	0	-10.8357	19.7918	0.96461	0.0:1.0:0.0:0.0	.	187;187	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	F	187;187;91	ENSP00000354519:S187F;ENSP00000358079:S187F;ENSP00000358077:S91F	ENSP00000354519:S187F	S	+	2	0	INPP5F	121541486	1.000000	0.71417	0.865000	0.33974	0.926000	0.56050	4.521000	0.60532	2.655000	0.90218	0.650000	0.86243	TCC		0.507	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		NM_014937		27	179	0	0	0	0.750413	0	27	179		
UROS	7390	broad.mit.edu	37	10	127483469	127483469	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:127483469C>T	ENST00000368797.4	-	9	864	c.640G>A	c.(640-642)Gac>Aac	p.D214N	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Missense_Mutation_p.D214N	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	214					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TCGATATTGTCACCAGATAAC	0.373																																						uc001liw.3		NaN																	0					0						c.(640-642)GAC>AAC		uroporphyrinogen III synthase							147.0	139.0	142.0					10																	127483469		2203	4300	6503	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127483469C>T	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.640G>A	10.37:g.127483469C>T	ENSP00000357787:p.Asp214Asn					UROS_uc001liv.3_Missense_Mutation_p.D95N|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.D214N|UROS_uc001liy.3_RNA	p.D214N	NM_000375	NP_000366	P10746	HEM4_HUMAN			8	773	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	214					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.640G>A	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119640	0.20877	.	.	ENSG00000188690	ENST00000368797;ENST00000368786	D;D	0.93019	-3.15;-3.15	5.25	3.38	0.38709	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.419410	0.26784	N	0.022501	D	0.92179	0.7520	L	0.52364	1.645	0.40811	D	0.983422	P;D	0.56287	0.783;0.975	B;P	0.52823	0.385;0.71	D	0.88451	0.3049	10	0.22706	T	0.39	-7.6928	9.7996	0.40755	0.0:0.8346:0.0:0.1654	.	214;186	P10746;E9PG85	HEM4_HUMAN;.	N	214	ENSP00000357787:D214N;ENSP00000357775:D214N	ENSP00000357775:D214N	D	-	1	0	UROS	127473459	0.001000	0.12720	0.663000	0.29738	0.249000	0.25844	0.292000	0.19011	0.582000	0.29556	-0.224000	0.12420	GAC		0.373	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1		NM_000375		8	82	0	0	0	0.335167	0	8	82		
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:534288C>T	ENST00000451590.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.G12D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		309	Substitution - Missense(309)	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)GGC>GAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>A	11.37:g.534288C>T	ENSP00000407586:p.Gly12Asp	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	p.G12D	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	223	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989265	0.53934	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92412	3.305	0.80722	D	1	P;P	0.35628	0.458;0.513	B;B	0.42827	0.278;0.399	D	0.89215	0.3567	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	D	12	ENSP00000380722:G12D;ENSP00000380723:G12D;ENSP00000407586:G12D;ENSP00000388246:G12D;ENSP00000309845:G12D	ENSP00000309845:G12D	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		39	13	0	0	0	0.870114	0	39	13		
OSBPL5	114879	broad.mit.edu	37	11	3147784	3147784	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:3147784C>T	ENST00000263650.7	-	3	297	c.138G>A	c.(136-138)ggG>ggA	p.G46G	OSBPL5_ENST00000389989.3_Splice_Site_p.G46G|OSBPL5_ENST00000348039.5_Splice_Site_p.G46G|OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000525498.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	46					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCATGTCCTTCCCTGCAAGAG	0.667																																						uc001lxk.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(136-138)GGG>GGA		oxysterol-binding protein-like protein 5 isoform							35.0	32.0	33.0					11																	3147784		2202	4298	6500	SO:0001630	splice_region_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3147784C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.137-1G>A	11.37:g.3147784C>T						OSBPL5_uc010qxq.1_5'UTR|OSBPL5_uc009ydw.2_Silent_p.G46G|OSBPL5_uc001lxl.2_Silent_p.G46G|OSBPL5_uc009ydx.2_Silent_p.G70G|OSBPL5_uc001lxm.1_RNA	p.G46G	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	296	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	46					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.138G>A	CCDS31344.1																																																																																				0.667	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			Silent	4	26	0	0	0	0.184627	0	4	26		
DKK3	27122	broad.mit.edu	37	11	12030017	12030017	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12030017A>T	ENST00000396505.2	-	2	351	c.113T>A	c.(112-114)cTc>cAc	p.L38H	DKK3_ENST00000450094.2_Missense_Mutation_p.L38H|DKK3_ENST00000326932.4_Missense_Mutation_p.L38H|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000525493.1_Missense_Mutation_p.L38H	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	38	O-glycosylated at one site.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CGGGTAGCTGAGAGCCGGGCC	0.701																																						uc001mju.2		NaN																	0				breast(1)	1						c.(112-114)CTC>CAC		dickkopf homolog 3 precursor							27.0	28.0	28.0					11																	12030017		2200	4294	6494	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12030017A>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.113T>A	11.37:g.12030017A>T	ENSP00000379762:p.Leu38His					DKK3_uc010rcf.1_Missense_Mutation_p.L38H|DKK3_uc001mjv.2_Missense_Mutation_p.L38H|DKK3_uc001mjw.2_Missense_Mutation_p.L38H|DKK3_uc010rcg.1_Missense_Mutation_p.L38H|DKK3_uc001mjx.2_Missense_Mutation_p.L38H	p.L38H	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	1	170	-			38			O-glycosylated at one site.		A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.113T>A	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898444	0.72639	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000525493;ENST00000450094;ENST00000533813;ENST00000534511;ENST00000529338	T;T;T;T;T;T;T	0.49432	2.12;2.12;2.1;1.39;1.82;0.81;0.78	4.96	2.58	0.30949	.	0.522427	0.18471	N	0.140233	T	0.50837	0.1639	L	0.47716	1.5	0.20821	N	0.999848	D;D;P;D	0.76494	0.992;0.997;0.881;0.999	P;P;B;P	0.60012	0.824;0.79;0.332;0.867	T	0.30592	-0.9973	10	0.40728	T	0.16	-8.4121	5.6268	0.17487	0.732:0.1744:0.0935:0.0	.	38;38;38;38	F6SYF8;E7EUD0;B4DI69;Q9UBP4	.;.;.;DKK3_HUMAN	H	38	ENSP00000379762:L38H;ENSP00000314910:L38H;ENSP00000433112:L38H;ENSP00000398365:L38H;ENSP00000435269:L38H;ENSP00000436645:L38H;ENSP00000431604:L38H	ENSP00000314910:L38H	L	-	2	0	DKK3	11986593	.	.	0.958000	0.39756	0.812000	0.45895	.	.	0.707000	0.31934	0.454000	0.30748	CTC		0.701	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1		NM_013253		30	5	0	0	0	0.779181	0	30	5		
TEAD1	7003	broad.mit.edu	37	11	12946588	12946588	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:12946588G>C	ENST00000526600.1	+	6	938	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	TEAD1_ENST00000361985.2_Missense_Mutation_p.E335Q|TEAD1_ENST00000527575.1_Missense_Mutation_p.E277Q|TEAD1_ENST00000527636.1_Missense_Mutation_p.E335Q|RP11-47J17.2_ENST00000454086.2_RNA|TEAD1_ENST00000334310.6_Missense_Mutation_p.E266Q|TEAD1_ENST00000361905.4_Missense_Mutation_p.E320Q			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	335	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAAGTAGTAGAAAAAGTAGA	0.433																																						uc001mkj.3		NaN																	0					0						c.(958-960)GAA>CAA		TEA domain family member 1							97.0	92.0	93.0					11																	12946588		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12946588G>C	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.715G>C	11.37:g.12946588G>C	ENSP00000435393:p.Glu239Gln					TEAD1_uc001mkk.3_Missense_Mutation_p.E239Q|TEAD1_uc009ygl.2_Missense_Mutation_p.E156Q	p.E320Q	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1623	+			335			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.958G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.153171	0.94645	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.90705	3.14	0.49798	D	0.999822	D;D;D	0.89917	0.985;1.0;0.972	D;D;P	0.97110	0.932;1.0;0.814	T	0.78165	-0.2310	10	0.87932	D	0	-5.2379	19.5476	0.95305	0.0:0.0:1.0:0.0	.	266;239;335	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	Q	320;335;277;266;335;239	ENSP00000355332:E320Q;ENSP00000435233:E335Q;ENSP00000435977:E277Q;ENSP00000334754:E266Q;ENSP00000354588:E335Q;ENSP00000435393:E239Q	ENSP00000334754:E266Q	E	+	1	0	TEAD1	12903164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GAA		0.433	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1		NM_021961		3	59	0	0	0	0.115264	0	3	59		
KCNC1	3746	broad.mit.edu	37	11	17793941	17793941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:17793941G>A	ENST00000379472.3	+	2	1330	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	KCNC1_ENST00000265969.6_Missense_Mutation_p.V434I	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	434					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCCGTGCCCGTCATCGTGAA	0.577																																						uc001mnk.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1300-1302)GTC>ATC		Shaw-related voltage-gated potassium channel							64.0	66.0	65.0					11																	17793941		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793941G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1300G>A	11.37:g.17793941G>A	ENSP00000368785:p.Val434Ile					KCNC1_uc009yhc.1_Missense_Mutation_p.V434I	p.V434I	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	1355	+			434			Helical; Name=Segment S6; (Potential).		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1300G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526358	0.64860	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98926	-5.24;-5.24	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	N	0.05199	-0.095	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.87578	0.811;0.998	D	0.98667	1.0686	10	0.36615	T	0.2	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	434;434	Q3KNS8;P48547	.;KCNC1_HUMAN	I	434	ENSP00000265969:V434I;ENSP00000368785:V434I	ENSP00000265969:V434I	V	+	1	0	KCNC1	17750517	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	9.869000	0.99810	2.397000	0.81536	0.561000	0.74099	GTC		0.577	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		NM_004976		15	86	0	0	0	0.539581	0	15	86		
TRIM51	84767	broad.mit.edu	37	11	55658785	55658785	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:55658785C>T	ENST00000449290.2	+	7	1128	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.H203Y	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTGGGAGGTTCATATGGGGGA	0.428																																						uc010rip.1		NaN																	0					0						c.(1036-1038)CAT>TAT		SPRY domain containing 5							78.0	83.0	81.0					11																	55658785		2104	4060	6164	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658785C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1036C>T	11.37:g.55658785C>T	ENSP00000395086:p.His346Tyr					SPRYD5_uc010riq.1_Missense_Mutation_p.H203Y	p.H346Y	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1128	+		all_epithelial(135;0.226)	346			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1036C>T		.	.	.	.	.	.	.	.	.	.	.	6.699	0.497659	0.12762	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.68765	-0.35;-0.35	1.36	-2.72	0.05968	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.39545	0.1082	N	0.11341	0.13	0.20074	N	0.999938	B	0.10296	0.003	B	0.10450	0.005	T	0.11203	-1.0597	9	0.40728	T	0.16	.	3.15	0.06484	0.2465:0.2827:0.4708:0.0	.	346	Q9BSJ1	SPRY5_HUMAN	Y	346;203	ENSP00000395086:H346Y;ENSP00000244891:H203Y	ENSP00000244891:H203Y	H	+	1	0	SPRYD5	55415361	1.000000	0.71417	0.001000	0.08648	0.413000	0.31143	0.437000	0.21543	-1.152000	0.02832	0.162000	0.16502	CAT		0.428	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681		12	96	0	0	0	0.411799	0	12	96		
PCNXL3	399909	broad.mit.edu	37	11	65403111	65403111	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr11:65403111C>T	ENST00000355703.3	+	32	5835	c.5296C>T	c.(5296-5298)Cgc>Tgc	p.R1766C	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1766						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCAGGCGCTTCGCAACATGAT	0.677																																						uc001oey.2		NaN																	0					0						c.(5296-5298)CGC>TGC		pecanex-like 3							25.0	31.0	29.0					11																	65403111		2172	4256	6428	SO:0001583	missense	399909					integral to membrane		g.chr11:65403111C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5296C>T	11.37:g.65403111C>T	ENSP00000347931:p.Arg1766Cys					PCNXL3_uc001oez.2_Missense_Mutation_p.R653C	p.R1766C	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			32	5296	+			1766					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5296C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511440	0.64522	.	.	ENSG00000197136	ENST00000355703	T	0.64438	-0.1	4.11	4.11	0.48088	.	0.063133	0.64402	D	0.000011	T	0.81795	0.4898	M	0.93283	3.4	0.46542	D	0.999092	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.84802	0.0785	10	0.87932	D	0	.	9.1807	0.37141	0.2168:0.7832:0.0:0.0	.	653;1766	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1766	ENSP00000347931:R1766C	ENSP00000347931:R1766C	R	+	1	0	PCNXL3	65159687	0.991000	0.36638	0.997000	0.53966	0.900000	0.52787	1.615000	0.36922	2.142000	0.66516	0.462000	0.41574	CGC		0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		8	21	0	0	0	0.307466	0	8	21		
ABCC9	10060	broad.mit.edu	37	12	21958155	21958155	+	Missense_Mutation	SNP	C	C	T	rs542730918		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:21958155C>T	ENST00000261201.4	-	38	4602	c.4603G>A	c.(4603-4605)Gcc>Acc	p.A1535T	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1499T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1535	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTCTTGTGGGCGAGCAAATTT	0.438																																						uc001rfi.1		NaN																	0				ovary(4)|skin(2)	6						c.(4603-4605)GCC>ACC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						168.0	142.0	151.0					12																	21958155		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958155C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4603G>A	12.37:g.21958155C>T	ENSP00000261201:p.Ala1535Thr					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.A1499T|ABCC9_uc001rfg.2_Intron	p.A1535T	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4623	-			1535			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4603G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401518	0.11696	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	T;T;T	0.78364	-1.17;-1.17;-1.17	5.96	1.96	0.26148	ABC transporter-like (1);	.	.	.	.	T	0.61825	0.2378	L	0.28556	0.865	0.09310	N	0.999999	B	0.24092	0.097	B	0.20577	0.03	T	0.44267	-0.9339	9	0.23302	T	0.38	.	5.9644	0.19316	0.0:0.407:0.3471:0.2459	.	1535	O60706	ABCC9_HUMAN	T	1162;1535;1499	ENSP00000440521:A1162T;ENSP00000261201:A1535T;ENSP00000261202:A1499T	ENSP00000261201:A1535T	A	-	1	0	ABCC9	21849422	0.998000	0.40836	0.103000	0.21229	0.361000	0.29550	1.081000	0.30791	0.083000	0.17047	0.655000	0.94253	GCC		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		8	48	0	0	0	0.335167	0	8	48		
SOX5	6660	broad.mit.edu	37	12	23699264	23699264	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:23699264C>G	ENST00000451604.2	-	12	1684	c.1583G>C	c.(1582-1584)aGt>aCt	p.S528T	SOX5_ENST00000381381.2_Missense_Mutation_p.S407T|SOX5_ENST00000541536.1_Missense_Mutation_p.S407T|SOX5_ENST00000546136.1_Missense_Mutation_p.S515T|SOX5_ENST00000396007.2_Missense_Mutation_p.S142T|SOX5_ENST00000545921.1_Missense_Mutation_p.S518T|SOX5_ENST00000309359.1_Missense_Mutation_p.S515T|SOX5_ENST00000537393.1_Missense_Mutation_p.S493T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	528					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGAATCTCCACTCAGATTGAA	0.343																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(1582-1584)AGT>ACT		SRY (sex determining region Y)-box 5 isoform a							143.0	134.0	137.0					12																	23699264		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23699264C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1583G>C	12.37:g.23699264C>G	ENSP00000398273:p.Ser528Thr					SOX5_uc001rfx.2_Missense_Mutation_p.S515T|SOX5_uc001rfy.2_Missense_Mutation_p.S407T|SOX5_uc001rfv.2_Missense_Mutation_p.S142T|SOX5_uc010siv.1_Missense_Mutation_p.S515T|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Missense_Mutation_p.S480T	p.S528T	NM_006940	NP_008871	P35711	SOX5_HUMAN			12	1685	-			528					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1583G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128461	0.77549	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;D;T;T;D;T;T	0.97186	0.74;0.74;-4.28;0.74;0.74;-4.28;0.74;0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	M	0.65975	2.015	0.41630	D	0.989015	P;P;P;D	0.56035	0.925;0.877;0.877;0.974	P;D;B;D	0.70487	0.647;0.916;0.444;0.969	D	0.97554	1.0094	10	0.33940	T	0.23	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	493;407;528;142	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	T	515;515;407;528;480;493;407;142;518	ENSP00000437487:S515T;ENSP00000308927:S515T;ENSP00000370788:S407T;ENSP00000398273:S528T;ENSP00000439832:S493T;ENSP00000441973:S407T;ENSP00000379328:S142T;ENSP00000443520:S518T	ENSP00000308927:S515T	S	-	2	0	SOX5	23590531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.029000	0.76477	2.762000	0.94881	0.591000	0.81541	AGT		0.343	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		7	109	0	0	0	0.27861	0	7	109		
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																						uc001sjh.2		NaN																	9	Substitution - Missense(9)	p.V104M(1)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(310-312)GTG>ATG		erbB-3 isoform 1 precursor							186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478854G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	503	+			104		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).	Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.310G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				63	106	0	0	0	0.870114	0	63	106		
ACSS3	79611	broad.mit.edu	37	12	81568654	81568654	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:81568654G>A	ENST00000548058.1	+	8	2096	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	ACSS3_ENST00000261206.3_Missense_Mutation_p.A395T|ACSS3_ENST00000548324.1_Missense_Mutation_p.A78T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	396						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCACCAACTGCAATTAGAGC	0.512																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1186-1188)GCA>ACA		acyl-CoA synthetase short-chain family member 3							124.0	103.0	110.0					12																	81568654		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568654G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1186G>A	12.37:g.81568654G>A	ENSP00000449535:p.Ala396Thr					ACSS3_uc001szm.1_Missense_Mutation_p.A395T|ACSS3_uc001szn.1_Missense_Mutation_p.A78T	p.A396T	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			8	1277	+			396					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1186G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501781	0.96371	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.43688	0.94;0.94;0.94	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.045910	0.85682	D	0.000000	T	0.71753	0.3377	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.981;0.999	T	0.75379	-0.3338	10	0.72032	D	0.01	-19.0995	20.126	0.97982	0.0:0.0:1.0:0.0	.	78;396	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	T	396;395;78	ENSP00000449535:A396T;ENSP00000261206:A395T;ENSP00000448965:A78T	ENSP00000261206:A395T	A	+	1	0	ACSS3	80092785	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.056000	0.93881	2.749000	0.94314	0.655000	0.94253	GCA		0.512	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		14	46	0	0	0	0.435327	0	14	46		
DDX51	317781	broad.mit.edu	37	12	132624237	132624237	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr12:132624237C>T	ENST00000397333.3	-	14	1955	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	639	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCAGCGGCTGCAGCAGCTTGC	0.612																																						uc001ujy.3		NaN																	0				lung(1)|pancreas(1)	2						c.(1915-1917)CTG>CTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							41.0	47.0	45.0					12																	132624237		2007	4161	6168	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624237C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1917G>A	12.37:g.132624237C>T							p.L639L	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	14	1956	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	639			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1917G>A	CCDS41865.1																																																																																				0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1		NM_175066		3	30	0	0	0	0.115264	0	3	30		
SLC7A7	9056	broad.mit.edu	37	14	23244697	23244697	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:23244697T>C	ENST00000397532.3	-	7	1576	c.1051A>G	c.(1051-1053)Atc>Gtc	p.I351V	SLC7A7_ENST00000554517.1_Missense_Mutation_p.I85V|SLC7A7_ENST00000285850.7_Missense_Mutation_p.I351V|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.I351V|SLC7A7_ENST00000397528.4_Missense_Mutation_p.I351V|SLC7A7_ENST00000555702.1_Missense_Mutation_p.I351V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	351					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCAACATGGATCATGCAGATG	0.473																																						uc001wgr.3		NaN																	0				ovary(1)|breast(1)	2						c.(1051-1053)ATC>GTC		solute carrier family 7 member 7							127.0	118.0	121.0					14																	23244697		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23244697T>C	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1051A>G	14.37:g.23244697T>C	ENSP00000380666:p.Ile351Val					SLC7A7_uc001wgs.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgt.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgu.3_Missense_Mutation_p.I351V|SLC7A7_uc001wgv.3_Missense_Mutation_p.I351V	p.I351V	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	7	1189	-	all_cancers(95;8.44e-05)		351					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1051A>G	CCDS9574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.72|15.72	2.916922|2.916922	0.52546|0.52546	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517|ENST00000556350	D;D;D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41|.	5.49|5.49	4.3|4.3	0.51218|0.51218	Amino acid permease domain (1);|.	0.049734|.	0.85682|.	N|.	0.000000|.	T|.	0.54886|.	0.1886|.	L|L	0.41632|0.41632	1.29|1.29	0.53005|0.53005	D|D	0.999969|0.999969	B|.	0.18013|.	0.025|.	B|.	0.33042|.	0.157|.	T|.	0.48779|.	-0.9005|.	10|.	0.59425|.	D|.	0.04|.	.|.	10.7738|10.7738	0.46338|0.46338	0.0:0.0771:0.0:0.9229|0.0:0.0771:0.0:0.9229	.|.	351|.	Q9UM01|.	YLAT1_HUMAN|.	V|W	351;351;351;324;351;351;85|65	ENSP00000285850:I351V;ENSP00000451881:I351V;ENSP00000380666:I351V;ENSP00000380663:I351V;ENSP00000380662:I351V;ENSP00000452083:I85V|.	ENSP00000285850:I351V|.	I|X	-|-	1|3	0|0	SLC7A7|SLC7A7	22314537|22314537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.818000|4.818000	0.62657|0.62657	0.882000|0.882000	0.36016|0.36016	0.460000|0.460000	0.39030|0.39030	ATC|TGA		0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3				20	107	0	0	0	0.608945	0	20	107		
ARHGAP5	394	broad.mit.edu	37	14	32563175	32563175	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:32563175A>G	ENST00000345122.3	+	2	3615	c.3300A>G	c.(3298-3300)aaA>aaG	p.K1100K	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.K1100K|ARHGAP5_ENST00000539826.2_Silent_p.K1100K|ARHGAP5_ENST00000556611.1_Silent_p.K1100K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1100					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAATTTTCAAACAGAAGGGCT	0.383																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(3298-3300)AAA>AAG		Rho GTPase activating protein 5 isoform b							51.0	55.0	54.0					14																	32563175		2201	4289	6490	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32563175A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3300A>G	14.37:g.32563175A>G						ARHGAP5_uc001wrm.2_Silent_p.K1100K|ARHGAP5_uc001wrn.2_Silent_p.K1100K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.K1100K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3539	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1100					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.3300A>G	CCDS32062.1																																																																																				0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		30	57	0	0	0	0.788014	0	30	57		
ARF6	382	broad.mit.edu	37	14	50360895	50360895	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:50360895G>A	ENST00000298316.5	+	2	988	c.441G>A	c.(439-441)agG>agA	p.R147R		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	147					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TTCGGGACAGGAACTGGTATG	0.542																																						uc001wxg.3		NaN																	0					0						c.(439-441)AGG>AGA		ADP-ribosylation factor 6							40.0	36.0	37.0					14																	50360895		2203	4300	6503	SO:0001819	synonymous_variant	382				cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding	g.chr14:50360895G>A		CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.441G>A	14.37:g.50360895G>A							p.R147R	NM_001663	NP_001654	P62330	ARF6_HUMAN			2	1062	+	all_epithelial(31;0.000822)|Breast(41;0.0117)		147					P26438|Q6FGZ2	Silent	SNP	ENST00000298316.5	37	c.441G>A	CCDS9695.1																																																																																				0.542	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1		NM_001663		6	44	0	0	0	0.307466	0	6	44		
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458																																						uc001xfx.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2029-2031)CGT>TGT		potassium voltage-gated channel, subfamily H,							50.0	54.0	53.0					14																	63175164		2202	4300	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175164G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2029C>T	14.37:g.63175164G>A	ENSP00000321427:p.Arg677Cys					KCNH5_uc001xfy.2_Missense_Mutation_p.S611L	p.R677C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2080	-			677			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2029C>T	CCDS9756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.291028|2.291028	0.40494|0.40494	.|.	.|.	ENSG00000140015|ENSG00000140015	ENST00000322893|ENST00000420622	T|D	0.18502|0.98531	2.21|-4.98	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.123346|.	0.51477|.	D|.	0.000082|.	D|D	0.96191|0.96191	0.8758|0.8758	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.20052	1.0|0.041	D|B	0.81914|0.12156	0.995|0.007	D|D	0.93426|0.93426	0.6781|0.6781	9|8	0.87932|0.87932	D|D	0|0	.|.	11.31|11.31	0.49358|0.49358	0.0:0.1165:0.6166:0.267|0.0:0.1165:0.6166:0.267	.|.	677|611	Q8NCM2|Q8NCM2-2	KCNH5_HUMAN|.	C|L	677|611	ENSP00000321427:R677C|ENSP00000395439:S611L	ENSP00000321427:R677C|ENSP00000395439:S611L	R|S	-|-	1|2	0|0	KCNH5|KCNH5	62244917|62244917	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.608000|0.608000	0.37181|0.37181	2.738000|2.738000	0.47401|0.47401	0.741000|0.741000	0.32674|0.32674	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.458	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		3	62	0	0	0	0.115264	0	3	62		
MAP3K9	4293	broad.mit.edu	37	14	71199958	71199958	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:71199958C>T	ENST00000554752.2	-	11	2127	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	MAP3K9_ENST00000554146.1_Missense_Mutation_p.D438N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D724N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D687N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D443N	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	710					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGGGCCATCGCCATCCTCT	0.617																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NaN																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2128-2130)GAT>AAT		mitogen-activated protein kinase kinase kinase							60.0	61.0	61.0					14																	71199958		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199958C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2128G>A	14.37:g.71199958C>T	ENSP00000451612:p.Asp710Asn					MAP3K9_uc010ttk.1_Missense_Mutation_p.D438N|MAP3K9_uc001xmk.2_Missense_Mutation_p.D443N|MAP3K9_uc001xml.2_Missense_Mutation_p.D724N	p.D710N	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2128	-			710					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2128G>A		.	.	.	.	.	.	.	.	.	.	C	18.47	3.630514	0.67015	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.77	4.77	0.60923	.	0.260386	0.27311	N	0.019948	T	0.22360	0.0539	N	0.14661	0.345	0.33790	D	0.625363	B;P;P;B	0.43169	0.293;0.8;0.727;0.45	B;B;B;B	0.36186	0.105;0.211;0.219;0.156	T	0.21109	-1.0255	10	0.23891	T	0.37	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	438;710;724;443	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	N	710;724;443;687;438;426	ENSP00000451612:D710N;ENSP00000451038:D443N;ENSP00000370649:D687N;ENSP00000451921:D438N	ENSP00000005198:D724N	D	-	1	0	MAP3K9	70269711	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.170000	0.58229	2.478000	0.83669	0.561000	0.74099	GAT		0.617	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2				6	75	0	0	0	0.361761	0	6	75		
EIF2B2	8892	broad.mit.edu	37	14	75470268	75470268	+	Missense_Mutation	SNP	G	G	A	rs17849324		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:75470268G>A	ENST00000266126.5	+	3	379	c.299G>A	c.(298-300)aGc>aAc	p.S100N	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	100				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CATGGACGCAGCGACGAGAGT	0.527																																						uc001xrc.1		NaN																	0				ovary(1)	1						c.(298-300)AGC>AAC		eukaryotic translation initiation factor 2B,							103.0	91.0	95.0					14																	75470268		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75470268G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.299G>A	14.37:g.75470268G>A	ENSP00000266126:p.Ser100Asn						p.S100N	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	3	381	+			100	RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).				O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.299G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107990	0.56291	.	.	ENSG00000119718	ENST00000266126	D	0.93019	-3.15	5.75	4.86	0.63082	.	0.154740	0.64402	N	0.000001	D	0.88658	0.6496	L	0.33189	0.99	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	D	0.83825	0.0249	10	0.18710	T	0.47	-8.688	14.8092	0.69982	0.0691:0.0:0.9309:0.0	.	100	P49770	EI2BB_HUMAN	N	100	ENSP00000266126:S100N	ENSP00000266126:S100N	S	+	2	0	EIF2B2	74540021	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.936000	0.63506	1.430000	0.47334	-0.258000	0.10820	AGC		0.527	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1		NM_014239		30	73	0	0	0	0.834066	0	30	73		
SPTLC2	9517	broad.mit.edu	37	14	78023407	78023407	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023407G>A	ENST00000216484.2	-	7	1126	c.933C>T	c.(931-933)ctC>ctT	p.L311L	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CCACAAGGATGAGAATTTTCT	0.393																																						uc001xub.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(931-933)CTC>CTT		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						96.0	95.0	95.0					14																	78023407		2203	4300	6503	SO:0001819	synonymous_variant	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78023407G>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.933C>T	14.37:g.78023407G>A							p.L311L	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	7	1121	-			311					Q16685	Silent	SNP	ENST00000216484.2	37	c.933C>T	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	G	6.892	0.534119	0.13188	.	.	ENSG00000100596	ENST00000554901	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56637	-0.7946	4	.	.	.	-8.1473	8.3688	0.32402	0.1263:0.2609:0.5212:0.0916	.	.	.	.	Y	248	.	.	H	-	1	0	SPTLC2	77093160	0.026000	0.19158	0.359000	0.25824	0.959000	0.62525	-1.159000	0.03150	-2.628000	0.00436	-1.343000	0.01246	CAT		0.393	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1		NM_004863		5	60	0	0	0	0.27861	0	5	60		
SPTLC2	9517	broad.mit.edu	37	14	78023409	78023409	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:78023409G>A	ENST00000216484.2	-	7	1124	c.931C>T	c.(931-933)Ctc>Ttc	p.L311F	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	311					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	ACAAGGATGAGAATTTTCTTC	0.393																																						uc001xub.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(931-933)CTC>TTC		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						95.0	94.0	94.0					14																	78023409		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78023409G>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.931C>T	14.37:g.78023409G>A	ENSP00000216484:p.Leu311Phe						p.L311F	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	7	1119	-			311					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.931C>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.116225|4.116225	0.77323|0.77323	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.90844|.	-2.74|.	5.05|5.05	4.14|4.14	0.48551|0.48551	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P|.	0.49253|.	0.921|.	P|.	0.51742|.	0.678|.	T|T	0.76085|0.76085	-0.3088|-0.3088	10|5	0.66056|.	D|.	0.02|.	-8.1473|-8.1473	14.2187|14.2187	0.65809|0.65809	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	311|.	O15270|.	SPTC2_HUMAN|.	F|F	311|247	ENSP00000216484:L311F|.	ENSP00000216484:L311F|.	L|S	-|-	1|2	0|0	SPTLC2|SPTLC2	77093162|77093162	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.978000|0.978000	0.69477|0.69477	6.725000|6.725000	0.74752|0.74752	1.215000|1.215000	0.43411|0.43411	0.563000|0.563000	0.77884|0.77884	CTC|TCT		0.393	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1		NM_004863		4	59	0	0	0	0.248553	0	4	59		
KIF26A	26153	broad.mit.edu	37	14	104618365	104618365	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr14:104618365C>T	ENST00000423312.2	+	3	302	c.302C>T	c.(301-303)tCt>tTt	p.S101F	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	101					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTGCCTCTCTGCCCTGCTT	0.672																																						uc001yos.3		NaN																	0				pancreas(1)	1						c.(301-303)TCT>TTT		kinesin family member 26A							23.0	27.0	26.0					14																	104618365		2103	4135	6238	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104618365C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.302C>T	14.37:g.104618365C>T	ENSP00000388241:p.Ser101Phe						p.S101F	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	3	302	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	101					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.302C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176413	0.57692	.	.	ENSG00000066735	ENST00000423312	D	0.83673	-1.75	4.17	4.17	0.49024	.	.	.	.	.	D	0.88175	0.6366	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	D	0.90018	0.4126	9	0.87932	D	0	.	16.4908	0.84200	0.0:1.0:0.0:0.0	.	101	Q9ULI4	KI26A_HUMAN	F	101	ENSP00000388241:S101F	ENSP00000388241:S101F	S	+	2	0	KIF26A	103688118	1.000000	0.71417	0.836000	0.33094	0.423000	0.31445	6.930000	0.75858	1.862000	0.54008	0.561000	0.74099	TCT		0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1				6	53	0	0	0	0.27861	0	6	53		
NUTM1	256646	broad.mit.edu	37	15	34647806	34647806	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34647806G>A	ENST00000333756.4	+	7	1668	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	NUTM1_ENST00000537011.1_Missense_Mutation_p.D533N|NUTM1_ENST00000438749.3_Missense_Mutation_p.D523N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	505						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAAGATGGGGATGGGCGGCT	0.582																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1513-1515)GAT>AAT		nuclear protein in testis							79.0	88.0	85.0					15																	34647806		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34647806G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1513G>A	15.37:g.34647806G>A	ENSP00000329448:p.Asp505Asn					C15orf55_uc010ucc.1_Missense_Mutation_p.D533N|C15orf55_uc010ucd.1_Missense_Mutation_p.D523N	p.D505N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	1668	+		all_lung(180;2.78e-08)	505					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1513G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784720	0.31593	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.09163	3.02;3.01;3.01	5.51	1.51	0.23008	.	0.371591	0.23180	N	0.051039	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B;B;B	0.26708	0.097;0.157;0.04	B;B;B	0.21917	0.016;0.037;0.011	T	0.35151	-0.9800	10	0.45353	T	0.12	.	4.0703	0.09879	0.261:0.0:0.5755:0.1634	.	523;533;505	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	533;523;374;505	ENSP00000444896:D533N;ENSP00000407031:D523N;ENSP00000329448:D505N	ENSP00000329448:D505N	D	+	1	0	C15orf55	32435098	1.000000	0.71417	0.007000	0.13788	0.463000	0.32649	0.954000	0.29175	0.032000	0.15435	0.655000	0.94253	GAT		0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		8	69	0	0	0	0.335167	0	8	69		
NUTM1	256646	broad.mit.edu	37	15	34648553	34648553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:34648553G>T	ENST00000333756.4	+	7	2415	c.2260G>T	c.(2260-2262)Gag>Tag	p.E754*	NUTM1_ENST00000537011.1_Nonsense_Mutation_p.E782*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E772*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	754						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTGTGTAACTGAGTATCAGGA	0.532																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2260-2262)GAG>TAG		nuclear protein in testis							71.0	70.0	70.0					15																	34648553		2201	4298	6499	SO:0001587	stop_gained	256646					cytoplasm|nucleus		g.chr15:34648553G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2260G>T	15.37:g.34648553G>T	ENSP00000329448:p.Glu754*					C15orf55_uc010ucc.1_Nonsense_Mutation_p.E782*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.E772*	p.E754*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2415	+		all_lung(180;2.78e-08)	754					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	c.2260G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	41	8.551417	0.98859	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	.	.	.	5.16	5.16	0.70880	.	0.696409	0.12681	N	0.447998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.0188	0.64541	0.0:0.0:1.0:0.0	.	.	.	.	X	782;772;754	.	ENSP00000329448:E754X	E	+	1	0	C15orf55	32435845	0.987000	0.35691	0.406000	0.26421	0.029000	0.11900	2.725000	0.47294	2.688000	0.91661	0.561000	0.74099	GAG		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		7	79	1	0	0.00307968	0.27861	0.00314712	7	79		
VPS13C	54832	broad.mit.edu	37	15	62228840	62228840	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:62228840C>G	ENST00000261517.5	-	48	5784	c.5711G>C	c.(5710-5712)aGa>aCa	p.R1904T	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1904T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1861T|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1861T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTCTCACTCTTACAGTCTC	0.348																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(5710-5712)AGA>ACA		vacuolar protein sorting 13C protein isoform 2A							74.0	75.0	75.0					15																	62228840		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62228840C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5711G>C	15.37:g.62228840C>G	ENSP00000261517:p.Arg1904Thr					VPS13C_uc002aha.2_Missense_Mutation_p.R1861T|VPS13C_uc002ahb.1_Missense_Mutation_p.R1904T|VPS13C_uc002ahc.1_Missense_Mutation_p.R1861T	p.R1904T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			48	5785	-			1904						Missense_Mutation	SNP	ENST00000261517.5	37	c.5711G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	4.650	0.120831	0.08881	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16897	2.31;2.31;2.31	5.81	3.96	0.45880	.	0.659613	0.15552	N	0.256355	T	0.11537	0.0281	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15141	0.01;0.003;0.005;0.012	B;B;B;B	0.17098	0.017;0.017;0.017;0.017	T	0.39057	-0.9632	10	0.11182	T	0.66	.	6.097	0.20025	0.1588:0.6849:0.0:0.1563	.	1861;1904;1861;1904	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	1861;1904;1904;1904	ENSP00000249837:R1861T;ENSP00000261517:R1904T;ENSP00000379233:R1904T	ENSP00000249837:R1861T	R	-	2	0	VPS13C	60016132	0.123000	0.22298	0.172000	0.22920	0.020000	0.10135	1.207000	0.32333	0.823000	0.34589	-0.126000	0.14955	AGA		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		8	48	0	0	0	0.335167	0	8	48		
C15orf32	145858	broad.mit.edu	37	15	93015655	93015655	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr15:93015655G>C	ENST00000333334.2	+	1	772	c.277G>C	c.(277-279)Gat>Cat	p.D93H	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.D93H	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	93										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ctcacgagtggATGGTTTGAT	0.413																																						uc002brc.1		NaN																	0				ovary(1)	1						c.(277-279)GAT>CAT		hypothetical protein LOC145858							70.0	73.0	72.0					15																	93015655		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93015655G>C		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.277G>C	15.37:g.93015655G>C	ENSP00000330267:p.Asp93His					C15orf32_uc010bod.1_RNA	p.D93H	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		1	749	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		93					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.277G>C	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	G	2.012	-0.426732	0.04701	.	.	ENSG00000183643	ENST00000333334	T	0.57107	0.42	2.42	1.44	0.22558	.	.	.	.	.	T	0.30727	0.0774	N	0.08118	0	0.09310	N	1	B	0.26809	0.16	B	0.28305	0.088	T	0.28004	-1.0057	9	0.87932	D	0	.	6.7437	0.23451	0.0:0.3185:0.6815:0.0	.	93	Q32M92	CO032_HUMAN	H	93	ENSP00000330267:D93H	ENSP00000330267:D93H	D	+	1	0	C15orf32	90816659	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.004000	0.13106	0.532000	0.28657	0.655000	0.94253	GAT		0.413	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2		NM_153040		12	63	0	0	0	0.479597	0	12	63		
UQCRC2	7385	broad.mit.edu	37	16	21968590	21968590	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:21968590A>C	ENST00000268379.4	+	2	832	c.68A>C	c.(67-69)aAa>aCa	p.K23T	UQCRC2_ENST00000561553.1_Missense_Mutation_p.K23T	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	23					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCCAAAGTTAAAGCCACAGCT	0.448																																					Colon(123;450 1645 12841 25393 45623)	uc002djx.2		NaN																	0				large_intestine(2)	2						c.(67-69)AAA>ACA		ubiquinol-cytochrome c reductase core protein II							68.0	70.0	70.0					16																	21968590		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21968590A>C	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.68A>C	16.37:g.21968590A>C	ENSP00000268379:p.Lys23Thr					UQCRC2_uc002djy.2_Missense_Mutation_p.K23T|UQCRC2_uc010bxa.2_RNA	p.K23T	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	2	204	+			23					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.68A>C	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	A	9.362	1.068231	0.20067	.	.	ENSG00000140740	ENST00000268379	T	0.11821	2.74	5.22	4.1	0.47936	.	0.432824	0.27284	N	0.020062	T	0.13372	0.0324	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29822	-0.9999	10	0.15499	T	0.54	-4.799	10.1867	0.43002	0.6491:0.3509:0.0:0.0	.	23	P22695	QCR2_HUMAN	T	23	ENSP00000268379:K23T	ENSP00000268379:K23T	K	+	2	0	UQCRC2	21876091	0.004000	0.15560	0.120000	0.21714	0.987000	0.75469	1.178000	0.31981	0.885000	0.36088	0.533000	0.62120	AAA		0.448	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1		NM_003366		26	33	0	0	0	0.779181	0	26	33		
CMIP	80790	broad.mit.edu	37	16	81712168	81712168	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:81712168G>A	ENST00000537098.3	+	10	1395	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.M288I|CMIP_ENST00000539778.2_Missense_Mutation_p.M347I	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	441						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GCAGCACCATGAGCATCGAGC	0.711																																						uc002fgp.2		NaN																	0					0						c.(1321-1323)ATG>ATA		c-Maf-inducing protein isoform C-mip							10.0	13.0	12.0					16																	81712168		2039	4170	6209	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81712168G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1323G>A	16.37:g.81712168G>A	ENSP00000446100:p.Met441Ile					CMIP_uc002fgq.1_Missense_Mutation_p.M347I|CMIP_uc010vnq.1_Missense_Mutation_p.M254I|CMIP_uc002fgr.1_Missense_Mutation_p.M288I	p.M441I	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			10	1395	+			407					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1323G>A	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854179	0.32791	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.08458	3.09;3.09	4.77	4.77	0.60923	.	0.111999	0.64402	D	0.000007	T	0.03651	0.0104	N	0.03608	-0.345	0.40293	D	0.97852	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46965	-0.9153	10	0.26408	T	0.33	.	8.7124	0.34391	0.0816:0.1526:0.7658:0.0	.	288;347;441	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	I	441;347;347;254	ENSP00000446100:M441I;ENSP00000440401:M347I	ENSP00000381120:M347I	M	+	3	0	CMIP	80269669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.361000	0.52306	2.205000	0.71048	0.561000	0.74099	ATG		0.711	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2		NM_030629		13	17	0	0	0	0.479597	0	13	17		
ACAP1	9744	broad.mit.edu	37	17	7240683	7240683	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:7240683G>C	ENST00000158762.3	+	2	312	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	36	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GACCCGTCTGGAAAAGGTGAC	0.557																																						uc002ggd.2		NaN																	0				breast(2)|large_intestine(1)	3						c.(106-108)GAA>CAA		centaurin beta1							128.0	117.0	121.0					17																	7240683		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7240683G>C	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.106G>C	17.37:g.7240683G>C	ENSP00000158762:p.Glu36Gln						p.E36Q	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			2	312	+			36			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.106G>C	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824766	0.90955	.	.	ENSG00000072818	ENST00000158762	T	0.04654	3.58	5.49	5.49	0.81192	.	0.747469	0.12978	N	0.423545	T	0.16128	0.0388	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.05971	-1.0853	10	0.06365	T	0.9	.	14.8647	0.70406	0.0:0.0:1.0:0.0	.	36	Q15027	ACAP1_HUMAN	Q	36	ENSP00000158762:E36Q	ENSP00000158762:E36Q	E	+	1	0	ACAP1	7181407	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.412000	0.73303	2.582000	0.87167	0.561000	0.74099	GAA		0.557	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4		NM_014716		3	107	0	0	0	0.115264	0	3	107		
CRLF3	51379	broad.mit.edu	37	17	29119551	29119551	+	Missense_Mutation	SNP	C	C	T	rs373829171		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:29119551C>T	ENST00000324238.6	-	6	990	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CRLF3_ENST00000544695.1_Missense_Mutation_p.R173Q|CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	289					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TATATTTCTTCGACTGCTCAG	0.418																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3		NaN																	0					0						c.(865-867)CGA>CAA		cytokine receptor-like factor 3							149.0	143.0	145.0					17																	29119551		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29119551C>T	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.866G>A	17.37:g.29119551C>T	ENSP00000318804:p.Arg289Gln					CRLF3_uc010wbr.1_Missense_Mutation_p.R173Q	p.R289Q	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			6	975	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	289					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.866G>A	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258070	0.95368	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.30448	1.53;1.53	5.34	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.63843	1.955	0.58432	D	0.999999	D	0.76494	0.999	P	0.62649	0.905	T	0.40136	-0.9579	10	0.23302	T	0.38	-5.6767	15.4977	0.75669	0.1396:0.8604:0.0:0.0	.	289	Q8IUI8	CRLF3_HUMAN	Q	289;173	ENSP00000318804:R289Q;ENSP00000444188:R173Q	ENSP00000318804:R289Q	R	-	2	0	CRLF3	26143677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.420000	0.80191	1.219000	0.43474	0.591000	0.81541	CGA		0.418	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1				41	141	0	0	0	0.870114	0	41	141		
PEX12	5193	broad.mit.edu	37	17	33903110	33903110	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:33903110G>A	ENST00000225873.4	-	3	1378	c.771C>T	c.(769-771)ttC>ttT	p.F257F	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	257					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAACTGCAAGAAGAATACAC	0.468																																						uc002hjp.2		NaN																	0					0						c.(769-771)TTC>TTT		peroxisomal biogenesis factor 12							132.0	114.0	120.0					17																	33903110		2203	4300	6503	SO:0001819	synonymous_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903110G>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.771C>T	17.37:g.33903110G>A							p.F257F	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1387	-			257			Helical; (Potential).		B2R6M2	Silent	SNP	ENST00000225873.4	37	c.771C>T	CCDS11296.1																																																																																				0.468	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2		NM_000286		37	68	0	0	0	0.812448	0	37	68		
CDK12	51755	broad.mit.edu	37	17	37687082	37687082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:37687082C>T	ENST00000447079.4	+	14	4019	c.3986C>T	c.(3985-3987)tCc>tTc	p.S1329F	CDK12_ENST00000430627.2_Missense_Mutation_p.S1320F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1329					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATGGAGTACTCCACCCGACCC	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(3985-3987)TCC>TTC		Cdc2-related kinase, arginine/serine-rich							85.0	86.0	86.0					17																	37687082		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687082C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3986C>T	17.37:g.37687082C>T	ENSP00000398880:p.Ser1329Phe	TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Missense_Mutation_p.S1320F	p.S1329F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4572	+			1329					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3986C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482338	0.44147	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70282	-0.47;-0.47	5.45	5.45	0.79879	.	0.000000	0.48767	D	0.000168	T	0.66376	0.2783	N	0.19112	0.55	0.39516	D	0.968436	P;P	0.47677	0.838;0.899	B;P	0.48141	0.364;0.568	T	0.72181	-0.4368	10	0.72032	D	0.01	-8.4221	18.2139	0.89879	0.0:1.0:0.0:0.0	.	1329;1320	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	F	1320;1329	ENSP00000407720:S1320F;ENSP00000398880:S1329F	ENSP00000407720:S1320F	S	+	2	0	CDK12	34940608	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.430000	0.34914	2.836000	0.97738	0.655000	0.94253	TCC		0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		50	62	0	0	0	0.870114	0	50	62		
TBKBP1	9755	broad.mit.edu	37	17	45787901	45787901	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:45787901G>A	ENST00000361722.3	+	9	2606	c.1757G>A	c.(1756-1758)tGc>tAc	p.C586Y		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						ATCCGCAGCTGCCCCCTCTGC	0.602																																						uc002ilu.2		NaN																	0					0						c.(1756-1758)TGC>TAC		TBK1 binding protein 1							41.0	48.0	46.0					17																	45787901		1988	4147	6135	SO:0001583	missense	9755				innate immune response			g.chr17:45787901G>A	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.1757G>A	17.37:g.45787901G>A	ENSP00000354777:p.Cys586Tyr						p.C586Y	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			9	2606	+			586						Missense_Mutation	SNP	ENST00000361722.3	37	c.1757G>A	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793313	0.90453	.	.	ENSG00000198933	ENST00000361722	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70364	-0.4892	9	0.87932	D	0	-24.3196	18.5721	0.91138	0.0:0.0:1.0:0.0	.	586	A7MCY6	TBKB1_HUMAN	Y	586	.	ENSP00000354777:C586Y	C	+	2	0	TBKBP1	43142900	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.095000	0.94175	2.687000	0.91594	0.462000	0.41574	TGC		0.602	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1		NM_014726		4	65	0	0	0	0.150653	0	4	65		
CACNA1G	8913	broad.mit.edu	37	17	48699087	48699087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr17:48699087C>G	ENST00000359106.5	+	35	5992	c.5992C>G	c.(5992-5994)Cta>Gta	p.L1998V	CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1927V|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1964V|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1987V|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514717.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1998					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCTGCTCTCTAGCTCTGAC	0.522																																						uc002irk.1		NaN																	0				breast(1)	1						c.(5992-5994)CTA>GTA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						144.0	136.0	139.0					17																	48699087		2123	4237	6360	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48699087C>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5992C>G	17.37:g.48699087C>G	ENSP00000352011:p.Leu1998Val					CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Missense_Mutation_p.L1975V|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.L1927V|CACNA1G_uc002iru.1_Missense_Mutation_p.L1964V|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.L1900V|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	p.L1998V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		35	6364	+	Breast(11;6.7e-17)		1998			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5992C>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027011	0.54683	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	D;D;D;D	0.97553	-4.04;-4.43;-4.06;-4.06	4.7	2.26	0.28386	.	0.885835	0.09353	N	0.813839	D	0.95159	0.8431	N	0.14661	0.345	0.29608	N	0.847147	B;D;B;P	0.69078	0.003;0.997;0.003;0.915	B;D;B;B	0.72625	0.004;0.978;0.004;0.23	D	0.89784	0.3963	10	0.27785	T	0.31	.	3.9918	0.09539	0.0:0.5182:0.2277:0.2541	.	1927;1987;1975;1998	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	V	1964;1927;1987;1998	ENSP00000347078:L1964V;ENSP00000425522:L1927V;ENSP00000420918:L1987V;ENSP00000352011:L1998V	ENSP00000347078:L1964V	L	+	1	2	CACNA1G	46054086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.896000	0.48656	0.942000	0.37525	0.462000	0.41574	CTA		0.522	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		6	54	0	0	0	0.307466	0	6	54		
WDR7	23335	broad.mit.edu	37	18	54547217	54547217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:54547217C>G	ENST00000254442.3	+	21	3558	c.3347C>G	c.(3346-3348)tCt>tGt	p.S1116C	WDR7_ENST00000357574.3_Missense_Mutation_p.S1083C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATTTCTACATCTTACGAGGAA	0.358																																						uc002lgk.1		NaN																	0				ovary(2)|skin(1)	3						c.(3346-3348)TCT>TGT		rabconnectin-3 beta isoform 1							85.0	79.0	81.0					18																	54547217		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54547217C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3347C>G	18.37:g.54547217C>G	ENSP00000254442:p.Ser1116Cys					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.S1083C	p.S1116C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3558	+			1116					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3347C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468903	0.84533	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.26223	1.75;1.75	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.40543	1.245	0.58432	D	0.999998	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.971	T	0.21314	-1.0249	10	0.51188	T	0.08	.	19.065	0.93106	0.0:1.0:0.0:0.0	.	1083;1116	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	1116;1083;441;1083	ENSP00000254442:S1116C;ENSP00000350187:S1083C	ENSP00000254442:S1116C	S	+	2	0	WDR7	52698215	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.341000	0.59335	2.681000	0.91329	0.655000	0.94253	TCT		0.358	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1				5	59	0	0	0	0.217242	0	5	59		
PCSK4	54760	broad.mit.edu	37	19	1487828	1487828	+	Silent	SNP	G	G	A	rs530715165		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1487828G>A	ENST00000300954.5	-	5	610	c.549C>T	c.(547-549)taC>taT	p.Y183Y	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGGGTCGTAGTCATTGA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		11418	0.001		0.0	False		,,,				2504	0.0					uc002ltb.1		NaN																	0					0						c.(547-549)TAC>TAT		proprotein convertase subtilisin/kexin type 4							11.0	14.0	13.0					19																	1487828		2155	4259	6414	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487828G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.549C>T	19.37:g.1487828G>A						PCSK4_uc002lta.2_Missense_Mutation_p.T25M	p.Y183Y	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	611	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	183			Catalytic (By similarity).			Silent	SNP	ENST00000300954.5	37	c.549C>T	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670239	0.29693	.	.	ENSG00000115257	ENST00000441747	.	.	.	2.09	-4.1	0.03940	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.11567	-1.0582	7	0.87932	D	0	.	8.3887	0.32516	0.5484:0.0:0.4516:0.0	.	25	B3KQ28	.	M	25	.	ENSP00000402772:T25M	T	-	2	0	PCSK4	1438828	0.000000	0.05858	0.977000	0.42913	0.770000	0.43624	-3.102000	0.00603	-0.797000	0.04450	0.491000	0.48974	ACG		0.692	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1		NM_017573		3	3	0	0	0	0.150653	0	3	3		
SCAMP4	113178	broad.mit.edu	37	19	1924163	1924163	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:1924163G>C	ENST00000316097.8	+	7	837	c.570G>C	c.(568-570)tgG>tgC	p.W190C	SCAMP4_ENST00000409472.1_Missense_Mutation_p.W156C	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	190					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGGAGTGGAACACGGGCA	0.612																																						uc002luj.2		NaN																	0					0						c.(568-570)TGG>TGC		secretory carrier membrane protein 4							42.0	51.0	48.0					19																	1924163		2037	4181	6218	SO:0001583	missense	113178				protein transport	integral to membrane		g.chr19:1924163G>C	AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"""Secretory carrier membrane proteins"""	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.570G>C	19.37:g.1924163G>C	ENSP00000316007:p.Trp190Cys					SCAMP4_uc002luk.2_Missense_Mutation_p.W156C|SCAMP4_uc010dss.2_Missense_Mutation_p.W146C	p.W190C	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	677	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	190			Cytoplasmic (Potential).		Q8N2N1|Q8NAV0	Missense_Mutation	SNP	ENST00000316097.8	37	c.570G>C	CCDS45903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.57|15.57	2.871920|2.871920	0.51695|0.51695	.|.	.|.	ENSG00000227500|ENSG00000227500	ENST00000414057|ENST00000316097;ENST00000409472	.|T;T	.|0.34472	.|2.24;1.36	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	T|T	0.58864|0.58864	0.2152|0.2152	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.62950|0.62950	-0.6745|-0.6745	5|9	.|0.87932	.|D	.|0	-1.9342|-1.9342	17.2084|17.2084	0.86924|0.86924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|156;190	.|Q969E2-2;Q969E2	.|.;SCAM4_HUMAN	A|C	200|190;156	.|ENSP00000316007:W190C;ENSP00000386865:W156C	.|ENSP00000316007:W190C	G|W	+|+	2|3	0|0	SCAMP4|SCAMP4	1875163|1875163	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.339000|0.339000	0.28857|0.28857	7.742000|7.742000	0.85008|0.85008	2.301000|2.301000	0.77427|0.77427	0.462000|0.462000	0.41574|0.41574	GGA|TGG		0.612	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336210.3		NM_079834		4	26	0	0	0	0.150653	0	4	26		
CYP4F2	8529	broad.mit.edu	37	19	16008382	16008382	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:16008382C>G	ENST00000221700.6	-	2	135	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGCTGCCACTGGCCAGAGG	0.672																																						uc002nbs.1		NaN																	0				ovary(1)|skin(1)	2						c.(40-42)GTG>CTG		cytochrome P450, family 4, subfamily F,							33.0	35.0	35.0					19																	16008382		2198	4293	6491	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16008382C>G	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.40G>C	19.37:g.16008382C>G	ENSP00000221700:p.Val14Leu					CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	p.V14L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			2	90	-			14						Missense_Mutation	SNP	ENST00000221700.6	37	c.40G>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	6.522	0.464487	0.12402	.	.	ENSG00000186115	ENST00000221700	D	0.90004	-2.6	2.99	-3.14	0.05250	.	4.580380	0.01715	U	0.027949	D	0.83529	0.5274	L	0.46741	1.465	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.65038	-0.6265	10	0.27082	T	0.32	.	6.3921	0.21593	0.0:0.3002:0.5694:0.1304	.	14	P78329	CP4F2_HUMAN	L	14	ENSP00000221700:V14L	ENSP00000221700:V14L	V	-	1	0	CYP4F2	15869382	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.624000	0.05540	-0.209000	0.10156	0.479000	0.44913	GTG		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082		11	46	0	0	0	0.38729	0	11	46		
ACTN4	81	broad.mit.edu	37	19	39200089	39200089	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39200089G>A	ENST00000252699.2	+	7	782	c.706G>A	c.(706-708)Gac>Aac	p.D236N	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	236	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAATACCTCGACATCCCCAA	0.557																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	0					0						c.(706-708)GAC>AAC		actinin, alpha 4							150.0	110.0	124.0					19																	39200089		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39200089G>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.706G>A	19.37:g.39200089G>A	ENSP00000252699:p.Asp236Asn					ACTN4_uc010egc.1_Missense_Mutation_p.D236N	p.D236N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	765	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		236			Actin-binding.|CH 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.706G>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360881	0.95877	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.95342	-3.68	4.52	4.52	0.55395	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	L	0.31207	0.915	0.80722	D	1	P;P	0.48694	0.914;0.858	P;P	0.57548	0.823;0.76	D	0.94883	0.8041	10	0.62326	D	0.03	.	16.5569	0.84487	0.0:0.0:1.0:0.0	.	236;236	E7EV83;O43707	.;ACTN4_HUMAN	N	236	ENSP00000252699:D236N	ENSP00000252699:D236N	D	+	1	0	ACTN4	43891929	1.000000	0.71417	0.950000	0.38849	0.984000	0.73092	9.657000	0.98554	2.503000	0.84419	0.561000	0.74099	GAC		0.557	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				17	81	0	0	0	0.592651	0	17	81		
FBXO27	126433	broad.mit.edu	37	19	39516171	39516171	+	Missense_Mutation	SNP	G	G	C	rs151102214		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:39516171G>C	ENST00000292853.4	-	6	851	c.732C>G	c.(730-732)atC>atG	p.I244M	FBXO27_ENST00000509137.2_Missense_Mutation_p.I244M|FBXO27_ENST00000600828.1_Missense_Mutation_p.I243M	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	244	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCCCATCTTGATGTTGGAGA	0.587																																						uc002okh.2		NaN																	0				ovary(1)	1						c.(730-732)ATC>ATG		F-box protein 27							63.0	53.0	56.0					19																	39516171		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516171G>C	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.732C>G	19.37:g.39516171G>C	ENSP00000292853:p.Ile244Met						p.I244M	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	814	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		244			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.732C>G	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479188	0.63849	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.33216	1.42;1.42	4.06	4.06	0.47325	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.554792	0.15779	N	0.245055	T	0.32010	0.0815	L	0.40543	1.245	0.26636	N	0.972372	B	0.33044	0.395	B	0.41088	0.347	T	0.25293	-1.0136	10	0.54805	T	0.06	-33.7168	11.9259	0.52819	0.0:0.0:1.0:0.0	.	244	Q8NI29	FBX27_HUMAN	M	244	ENSP00000292853:I244M;ENSP00000437662:I244M	ENSP00000292853:I244M	I	-	3	3	FBXO27	44208011	0.562000	0.26586	0.817000	0.32601	0.968000	0.65278	1.097000	0.30988	2.255000	0.74692	0.491000	0.48974	ATC		0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1				3	52	0	0	0	0.115264	0	3	52		
ERCC2	2068	broad.mit.edu	37	19	45854898	45854898	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:45854898G>C	ENST00000391945.4	-	23	2349	c.2272C>G	c.(2272-2274)Cag>Gag	p.Q758E	ERCC2_ENST00000391944.3_Missense_Mutation_p.Q680E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	758					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGAGCTGCTGAGCAATCTGC	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(2272-2274)CAG>GAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							132.0	139.0	137.0					19																	45854898		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45854898G>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2272C>G	19.37:g.45854898G>C	ENSP00000375809:p.Gln758Glu					ERCC2_uc002pbh.2_Missense_Mutation_p.Q321E|ERCC2_uc002pbi.2_Missense_Mutation_p.Q451E|ERCC2_uc010ejz.2_Missense_Mutation_p.Q680E	p.Q758E	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	23	2319	-		Ovarian(192;0.0728)|all_neural(266;0.112)	758					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2272C>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445716	0.25987	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.81659	-1.3;-1.52	4.29	4.29	0.51040	.	0.131118	0.51477	D	0.000100	T	0.72598	0.3480	L	0.45051	1.395	0.80722	D	1	B;B;B	0.21381	0.006;0.003;0.055	B;B;B	0.19148	0.003;0.003;0.024	T	0.67658	-0.5614	10	0.20046	T	0.44	-31.839	14.2879	0.66258	0.0:0.0:1.0:0.0	.	680;758;451	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	E	708;734;758;680	ENSP00000375809:Q758E;ENSP00000375808:Q680E	ENSP00000375805:Q708E	Q	-	1	0	ERCC2	50546738	1.000000	0.71417	0.921000	0.36526	0.107000	0.19398	8.611000	0.90905	2.231000	0.72958	0.561000	0.74099	CAG		0.592	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		39	283	0	0	0	0.870114	0	39	283		
ZNF808	388558	broad.mit.edu	37	19	53056856	53056856	+	Silent	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53056856A>G	ENST00000359798.4	+	5	867	c.687A>G	c.(685-687)aaA>aaG	p.K229K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	229					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAGAGAAAAATCTTTCCCAT	0.373																																						uc010epq.1		NaN																	0					0						c.(685-687)AAA>AAG		zinc finger protein 808							139.0	144.0	142.0					19																	53056856		2203	4300	6503	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056856A>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.687A>G	19.37:g.53056856A>G						ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.K229K	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	864	+			229					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.687A>G	CCDS46167.1																																																																																				0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3		NM_001039886		4	229	0	0	0	0.150653	0	4	229		
VN1R4	317703	broad.mit.edu	37	19	53770826	53770826	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:53770826G>A	ENST00000311170.4	-	1	146	c.93C>T	c.(91-93)tcC>tcT	p.S31S	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	31					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCAGTAAAAGGAGAGATAAT	0.507										HNSCC(26;0.072)																												uc010ydu.1		NaN																	0				ovary(2)	2						c.(91-93)TCC>TCT		vomeronasal 1 receptor 4							55.0	60.0	58.0					19																	53770826		2203	4300	6503	SO:0001819	synonymous_variant	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770826G>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.93C>T	19.37:g.53770826G>A		HNSCC(26;0.072)					p.S31S	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	93	-			31			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	c.93C>T	CCDS33099.1																																																																																				0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1		NM_173857		6	78	0	0	0	0.217242	0	6	78		
ZNF776	284309	broad.mit.edu	37	19	58265941	58265941	+	Silent	SNP	T	T	C	rs563977196		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr19:58265941T>C	ENST00000317178.5	+	3	1706	c.1443T>C	c.(1441-1443)atT>atC	p.I481I	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATTCACTCTGGAG	0.448																																						uc002qpx.2		NaN																	0				ovary(1)	1						c.(1441-1443)ATT>ATC		zinc finger protein 776							121.0	105.0	111.0					19																	58265941		2203	4300	6503	SO:0001819	synonymous_variant	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265941T>C	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1443T>C	19.37:g.58265941T>C						ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I	p.I481I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1666	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	481			C2H2-type 10; degenerate.		Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.1443T>C	CCDS12962.2																																																																																				0.448	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2		NM_173632		3	111	0	0	0	0.184627	0	3	111		
ITSN2	50618	broad.mit.edu	37	2	24521611	24521611	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:24521611G>C	ENST00000355123.4	-	13	1860	c.1417C>G	c.(1417-1419)Caa>Gaa	p.Q473E	ITSN2_ENST00000406921.3_Missense_Mutation_p.Q473E|ITSN2_ENST00000361999.3_Missense_Mutation_p.Q473E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	473					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATTCTTTTGATTGAGAAGC	0.368																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1417-1419)CAA>GAA		intersectin 2 isoform 1							141.0	142.0	142.0					2																	24521611		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521611G>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1417C>G	2.37:g.24521611G>C	ENSP00000347244:p.Gln473Glu					ITSN2_uc002rff.2_Missense_Mutation_p.Q473E|ITSN2_uc002rfg.2_Missense_Mutation_p.Q473E|ITSN2_uc010eyd.2_Missense_Mutation_p.Q498E	p.Q473E	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			13	1675	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		473			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1417C>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324860	0.60634	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.80214	0.2;0.24;0.2;0.68;-1.35	5.46	5.46	0.80206	.	0.000000	0.35436	U	0.003210	T	0.80727	0.4678	M	0.63428	1.95	0.47374	D	0.999406	B;B;B;B	0.22683	0.073;0.073;0.073;0.012	B;B;B;B	0.21151	0.033;0.033;0.033;0.014	T	0.77582	-0.2534	10	0.72032	D	0.01	.	19.6813	0.95964	0.0:0.0:1.0:0.0	.	473;473;473;473	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	E	473;473;473;497;473;498	ENSP00000354561:Q473E;ENSP00000347244:Q473E;ENSP00000370250:Q473E;ENSP00000384499:Q473E;ENSP00000391224:Q498E	ENSP00000347244:Q473E	Q	-	1	0	ITSN2	24375115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.792000	0.62467	2.745000	0.94114	0.484000	0.47621	CAA		0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		11	101	0	0	0	0.457914	0	11	101		
AFTPH	54812	broad.mit.edu	37	2	64778744	64778744	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:64778744G>C	ENST00000422803.1	+	2	450	c.136G>C	c.(136-138)Gat>Cat	p.D46H	AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.D46H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D46H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D46H			Q6ULP2	AFTIN_HUMAN	aftiphilin	46					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGGGTTTGTTGATTTCGATAC	0.408																																						uc002sdc.2		NaN																	0				ovary(2)	2						c.(136-138)GAT>CAT		aftiphilin protein isoform a							146.0	151.0	149.0					2																	64778744		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778744G>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.136G>C	2.37:g.64778744G>C	ENSP00000397726:p.Asp46His					AFTPH_uc002scz.2_Missense_Mutation_p.D46H|AFTPH_uc002sda.2_Missense_Mutation_p.D46H|AFTPH_uc002sdb.2_Missense_Mutation_p.D46H	p.D46H	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	168	+			46					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.136G>C		.	.	.	.	.	.	.	.	.	.	G	16.59	3.165262	0.57476	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.63	5.63	0.86233	.	0.120868	0.53938	D	0.000047	T	0.50154	0.1599	M	0.63428	1.95	0.54753	D	0.999989	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;D;D;P	0.65874	0.904;0.939;0.939;0.904	T	0.46289	-0.9202	10	0.87932	D	0	-9.5963	20.0572	0.97657	0.0:0.0:1.0:0.0	.	46;46;46;46	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	H	46	ENSP00000238856:D46H;ENSP00000397726:D46H;ENSP00000238855:D46H;ENSP00000387071:D46H	ENSP00000238855:D46H	D	+	1	0	AFTPH	64632248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.781000	0.85668	2.826000	0.97356	0.655000	0.94253	GAT		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding			NM_017657		99	132	0	0	0	0.870114	0	99	132		
STARD7-AS1	285033	broad.mit.edu	37	2	96906235	96906235	+	RNA	SNP	T	T	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:96906235T>A	ENST00000446816.1	+	0	618																											TCAACTCTTCTCAGGACCAGA	0.537																																						uc002svp.1		NaN																	0					0						c.(172-174)TCT>TCA		hypothetical protein LOC285033							76.0	83.0	81.0					2																	96906235		2075	4213	6288			285033							g.chr2:96906235T>A																													2.37:g.96906235T>A						LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Silent_p.S135S	p.S58S	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			1	259	+			58						Silent	SNP	ENST00000446816.1	37	c.174T>A																																																																																					0.537	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1				5	88	0	0	0	0.27861	0	5	88		
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						uc010yva.1		NaN																	5	Substitution - Missense(5)		endometrium(2)|skin(2)|kidney(1)		0						c.(3040-3042)GAT>TAT		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_uc002sxp.3_RNA	p.D1014Y	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				3	9	1	0	0.004672	0.115264	0.00473971	3	9		
AFF3	3899	broad.mit.edu	37	2	100210557	100210557	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:100210557C>G	ENST00000409236.2	-	13	1678	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	AFF3_ENST00000356421.2_Missense_Mutation_p.E547D|AFF3_ENST00000317233.4_Missense_Mutation_p.E522D|AFF3_ENST00000409579.1_Missense_Mutation_p.E547D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	522					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTCTTGATCTCCTTCTCTC	0.602																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1564-1566)GAG>GAC		AF4/FMR2 family, member 3 isoform 1							116.0	110.0	112.0					2																	100210557		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210557C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1566G>C	2.37:g.100210557C>G	ENSP00000387207:p.Glu522Asp					AFF3_uc002taf.2_Missense_Mutation_p.E547D|AFF3_uc010fiq.1_Missense_Mutation_p.E522D|AFF3_uc010yvr.1_Missense_Mutation_p.E675D|AFF3_uc002tah.1_Missense_Mutation_p.E547D	p.E522D	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	1802	-			522					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1566G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	4.340	0.062517	0.08388	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.87	-5.58	0.02512	.	0.606377	0.15176	N	0.276349	T	0.28995	0.0720	N	0.08118	0	0.19945	N	0.999949	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.14578	0.003;0.011;0.002	T	0.06481	-1.0824	10	0.39692	T	0.17	.	1.3401	0.02153	0.1641:0.2152:0.3125:0.3082	.	675;522;547	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	D	522;547;547;522;522;675;547	ENSP00000317421:E522D;ENSP00000348793:E547D;ENSP00000386834:E547D;ENSP00000387207:E522D	ENSP00000317421:E522D	E	-	3	2	AFF3	99576989	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	-1.032000	0.03574	-1.128000	0.02922	-0.302000	0.09304	GAG		0.602	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		6	132	0	0	0	0.248553	0	6	132		
CD302	9936	broad.mit.edu	37	2	160628465	160628465	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160628465G>T	ENST00000259053.4	-	6	639	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	LY75_ENST00000554112.1_Missense_Mutation_p.S1840Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1784Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1840Y|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Missense_Mutation_p.S1784Y|CD302_ENST00000429078.2_Missense_Mutation_p.S141Y	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	199					phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GGTGAAACGAGAATCAGAATG	0.368																																						uc002ubb.3		NaN																	0					0						c.(5518-5520)TCT>TAT		lymphocyte antigen 75 precursor							108.0	110.0	109.0					2																	160628465		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160628465G>T	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"""CD molecules"", ""C-type lectin domain containing"""	30843	protein-coding gene	gene with protein product	"""C-type lectin domain family 13, member A"""	612246	"""CD302 antigen"""			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.596C>A	2.37:g.160628465G>T	ENSP00000259053:p.Ser199Tyr					LY75_uc010fos.2_Missense_Mutation_p.S1784Y|CD302_uc002uba.2_Missense_Mutation_p.S199Y|CD302_uc010zco.1_Missense_Mutation_p.S141Y	p.S1840Y	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	39	5588	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	c.5519C>A	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171653	0.38315	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.32515	3.14;1.45;2.78;2.84;2.78;2.84	5.44	3.66	0.41972	.	0.335552	0.27088	N	0.020988	T	0.20455	0.0492	L	0.34521	1.04	0.09310	N	0.999999	P;B;P;P	0.47841	0.901;0.178;0.717;0.831	B;B;B;B	0.40066	0.312;0.116;0.318;0.235	T	0.07849	-1.0751	10	0.37606	T	0.19	-24.5918	7.4247	0.27092	0.2645:0.0:0.7355:0.0	.	141;1784;1840;199	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	Y	199;141;1840;1784;1840;1784	ENSP00000259053:S199Y;ENSP00000394301:S141Y;ENSP00000451511:S1840Y;ENSP00000451446:S1784Y;ENSP00000423463:S1840Y;ENSP00000421035:S1784Y	ENSP00000259053:S199Y	S	-	2	0	LY75;CD302;LY75-CD302	160336711	0.439000	0.25610	0.857000	0.33713	0.480000	0.33159	0.971000	0.29396	0.685000	0.31468	-0.225000	0.12378	TCT		0.368	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1		NM_014880		28	59	1	0	2.42023e-17	0.779181	2.54761e-17	28	59		
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:160808060C>G	ENST00000283243.7	-	24	3537	c.3331G>C	c.(3331-3333)Gat>Cat	p.D1111H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1111H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1111					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATACATATCAGATGTATTT	0.363																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(3331-3333)GAT>CAT		phospholipase A2 receptor 1 isoform 1 precursor							138.0	124.0	129.0					2																	160808060		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160808060C>G	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3331G>C	2.37:g.160808060C>G	ENSP00000283243:p.Asp1111His					PLA2R1_uc010zcp.1_Missense_Mutation_p.D1111H|PLA2R1_uc002ubf.2_Missense_Mutation_p.D1111H	p.D1111H	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			24	3538	-			1111			Extracellular (Potential).		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.3331G>C	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232182	0.39498	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.07444	3.23;3.19	5.92	3.84	0.44239	C-type lectin-like (1);	0.791594	0.12088	N	0.500681	T	0.10380	0.0254	N	0.19112	0.55	0.29409	N	0.861345	B;P;P	0.44195	0.002;0.828;0.694	B;P;P	0.50860	0.019;0.652;0.518	T	0.11941	-1.0567	10	0.46703	T	0.11	.	9.8376	0.40980	0.1407:0.7639:0.0:0.0954	.	1111;1111;1111	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	H	1111	ENSP00000283243:D1111H;ENSP00000376524:D1111H	ENSP00000283243:D1111H	D	-	1	0	PLA2R1	160516306	0.958000	0.32768	1.000000	0.80357	0.658000	0.38924	1.848000	0.39309	1.456000	0.47831	0.557000	0.71058	GAT		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				3	88	0	0	0	0.115264	0	3	88		
SCN1A	6323	broad.mit.edu	37	2	166848014	166848014	+	Missense_Mutation	SNP	C	C	A	rs3749029	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:166848014C>A	ENST00000303395.4	-	26	5770	c.5771G>T	c.(5770-5772)cGt>cTt	p.R1924L	SCN1A_ENST00000423058.2_Missense_Mutation_p.R1924L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1913L|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1896L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1924	IQ.				adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5737-5739)CGT>CTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						99.0	94.0	96.0					2																	166848014		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848014C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5771G>T	2.37:g.166848014C>A	ENSP00000303540:p.Arg1924Leu						p.R1913L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5756	-			1924					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5738G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027240	0.75390	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97186	-4.28;-4.28;-4.23;-4.22	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000024	D	0.98738	0.9576	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99421	1.0933	10	0.87932	D	0	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	1913	P35498-2	.	L	1924;1924;1913;1896	ENSP00000407030:R1924L;ENSP00000303540:R1924L;ENSP00000364554:R1913L;ENSP00000386312:R1896L	ENSP00000303540:R1924L	R	-	2	0	SCN1A	166556260	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	6.028000	0.70889	2.719000	0.93026	0.555000	0.69702	CGT		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		28	64	1	0	6.04164e-23	0.750413	6.4078e-23	28	64		
SF3B1	23451	broad.mit.edu	37	2	198265573	198265573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:198265573C>T	ENST00000335508.6	-	18	2675	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	862					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E862K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTACTGTTCGGCTTCATCT	0.373			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		large_intestine(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2584-2586)GAA>AAA		splicing factor 3b, subunit 1 isoform 1							142.0	139.0	140.0					2																	198265573		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265573C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2584G>A	2.37:g.198265573C>T	ENSP00000335321:p.Glu862Lys						p.E862K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2632	-			862			HEAT 7.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2584G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406352	0.96051	.	.	ENSG00000115524	ENST00000335508	T	0.67171	-0.25	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88999	0.3420	10	0.87932	D	0	.	20.2175	0.98301	0.0:1.0:0.0:0.0	.	862	O75533	SF3B1_HUMAN	K	862	ENSP00000335321:E862K	ENSP00000335321:E862K	E	-	1	0	SF3B1	197973818	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.717000	0.84732	2.850000	0.98022	0.655000	0.94253	GAA		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				13	82	0	0	0	0.479597	0	13	82		
GIGYF2	26058	broad.mit.edu	37	2	233710441	233710441	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr2:233710441G>A	ENST00000409547.1	+	28	3616		c.e28-1		GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTGCTTTAGTAAATCTGTA	0.353																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.e28-1		GRB10 interacting GYF protein 2 isoform b							81.0	84.0	83.0					2																	233710441		2203	4300	6503	SO:0001630	splice_region_variant	26058				cell death		protein binding	g.chr2:233710441G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3306-1G>A	2.37:g.233710441G>A						GIGYF2_uc002vtj.3_Splice_Site_p.S1123_splice|GIGYF2_uc002vtk.3_Splice_Site_p.S1102_splice|GIGYF2_uc002vth.3_Splice_Site_p.S1096_splice|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc002vtq.3_Splice_Site_p.S435_splice	p.S1102_splice	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3643	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)						A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	ENST00000409547.1	37	c.3306_splice	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966110	0.74131	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.843	0.96697	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233418685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.138000	0.94501	2.679000	0.91253	0.655000	0.94253	.		0.353	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146	Intron	16	44	0	0	0	0.520397	0	16	44		
RAE1	8480	broad.mit.edu	37	20	55929795	55929795	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:55929795G>A	ENST00000395841.2	+	3	538	c.118G>A	c.(118-120)Gat>Aat	p.D40N	RAE1_ENST00000395840.2_Missense_Mutation_p.D40N|RAE1_ENST00000371242.2_Missense_Mutation_p.D40N|RAE1_ENST00000527947.1_Missense_Mutation_p.D40N	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	40					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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 export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ATCTCCTGATGATAGCATTGG	0.398																																						uc002xyg.2		NaN																	0					0						c.(118-120)GAT>AAT		RAE1 (RNA export 1, S.pombe) homolog							173.0	141.0	151.0					20																	55929795		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55929795G>A	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.118G>A	20.37:g.55929795G>A	ENSP00000379182:p.Asp40Asn					RAE1_uc010gis.1_Missense_Mutation_p.M1I|RAE1_uc010git.1_Missense_Mutation_p.D40N|RAE1_uc002xyh.2_Missense_Mutation_p.D40N|RAE1_uc002xyi.2_Missense_Mutation_p.D40N	p.D40N	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		3	459	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		40					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.118G>A	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602621	0.96614	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;0.18;0.18;-0.63;0.18	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.999;0.999	D	0.87135	0.2199	10	0.72032	D	0.01	-0.1364	18.7502	0.91810	0.0:0.0:1.0:0.0	.	40;40	E9PQ57;P78406	.;RAE1L_HUMAN	N	40	ENSP00000379182:D40N;ENSP00000360286:D40N;ENSP00000432609:D40N;ENSP00000392097:D40N;ENSP00000393264:D40N;ENSP00000379181:D40N;ENSP00000402924:D40N	ENSP00000360286:D40N	D	+	1	0	RAE1	55363202	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.719000	0.93026	0.555000	0.69702	GAT		0.398	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2				9	89	0	0	0	0.411799	0	9	89		
CDH4	1002	broad.mit.edu	37	20	60318751	60318751	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr20:60318751C>T	ENST00000360469.5	+	3	390	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CDH4_ENST00000543233.1_Missense_Mutation_p.T27M|RP11-429E11.2_ENST00000442888.1_RNA|RP11-429E11.2_ENST00000447909.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	101					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGGCGTTCACGGTGACTGCA	0.607																																						uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(301-303)ACG>ATG		cadherin 4, type 1 preproprotein							62.0	46.0	52.0					20																	60318751		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60318751C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.302C>T	20.37:g.60318751C>T	ENSP00000353656:p.Thr101Met					CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.T27M	p.T101M	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		3	316	+			101					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.302C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715465	0.30413	.	.	ENSG00000179242	ENST00000360469;ENST00000543233	T;T	0.40756	1.02;1.02	5.0	1.57	0.23409	Cadherin prodomain-like (1);Cadherin-like (1);	0.305084	0.37669	N	0.001993	T	0.26048	0.0635	L	0.40543	1.245	0.31571	N	0.65631	B	0.17268	0.021	B	0.12837	0.008	T	0.08597	-1.0714	9	.	.	.	.	3.4755	0.07583	0.2013:0.5053:0.0:0.2934	.	101	P55283	CADH4_HUMAN	M	101;27	ENSP00000353656:T101M;ENSP00000443301:T27M	.	T	+	2	0	CDH4	59752146	0.846000	0.29590	0.951000	0.38953	0.693000	0.40251	1.185000	0.32065	1.089000	0.41292	0.491000	0.48974	ACG		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		5	12	0	0	0	0.217242	0	5	12		
AGPAT3	56894	broad.mit.edu	37	21	45401024	45401024	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr21:45401024G>A	ENST00000398063.2	+	8	1490	c.998G>A	c.(997-999)gGa>gAa	p.G333E	AGPAT3_ENST00000398061.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000327505.2_Missense_Mutation_p.G333E|AGPAT3_ENST00000398058.1_Missense_Mutation_p.G333E|AGPAT3_ENST00000291572.8_Missense_Mutation_p.G333E	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	333					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGCCAGCGGATCACCTCTC	0.572																																					Pancreas(60;623 1650 5574 52796)	uc002zdv.2		NaN																	0					0						c.(997-999)GGA>GAA		1-acylglycerol-3-phosphate O-acyltransferase 3							137.0	118.0	124.0					21																	45401024		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45401024G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.998G>A	21.37:g.45401024G>A	ENSP00000381140:p.Gly333Glu					AGPAT3_uc002zdw.2_Missense_Mutation_p.G333E|AGPAT3_uc002zdx.2_Missense_Mutation_p.G420E|AGPAT3_uc002zdy.2_Missense_Mutation_p.G271E	p.G333E	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1220	+			333			Helical; (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.998G>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926626	0.73327	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87908	0.6296	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.973	D	0.90120	0.4198	10	0.87932	D	0	-16.1308	18.1548	0.89687	0.0:0.0:1.0:0.0	.	353;333	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	E	333	ENSP00000291572:G333E;ENSP00000381138:G333E;ENSP00000332989:G333E;ENSP00000381140:G333E;ENSP00000381135:G333E;ENSP00000443510:G333E	ENSP00000291572:G333E	G	+	2	0	AGPAT3	44225452	1.000000	0.71417	0.517000	0.27799	0.240000	0.25518	8.882000	0.92420	2.286000	0.76751	0.467000	0.42956	GGA		0.572	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1		NM_020132		13	96	0	0	0	0.479597	0	13	96		
HIC2	23119	broad.mit.edu	37	22	21800133	21800133	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:21800133A>G	ENST00000443632.2	+	2	1321	c.949A>G	c.(949-951)Agc>Ggc	p.S317G	HIC2_ENST00000407464.2_Missense_Mutation_p.S317G|HIC2_ENST00000407598.2_Missense_Mutation_p.S317G			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	317					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CAACCACCTGAGCCTGCTGGA	0.657																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NaN																	0				skin(1)	1						c.(949-951)AGC>GGC		hypermethylated in cancer 2							13.0	18.0	16.0					22																	21800133		2060	4104	6164	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800133A>G	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.949A>G	22.37:g.21800133A>G	ENSP00000387757:p.Ser317Gly					HIC2_uc002zus.3_Missense_Mutation_p.S317G	p.S317G	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	1179	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	317					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.949A>G	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093986	0.01858	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10192	2.9;2.9;2.9	5.13	-0.988	0.10245	.	0.639060	0.15512	N	0.258468	T	0.03739	0.0106	N	0.08118	0	0.24814	N	0.992625	B	0.02656	0.0	B	0.01281	0.0	T	0.43766	-0.9371	10	0.13853	T	0.58	.	4.1992	0.10458	0.4361:0.0:0.3952:0.1687	.	317	Q96JB3	HIC2_HUMAN	G	317	ENSP00000385319:S317G;ENSP00000384889:S317G;ENSP00000387757:S317G	ENSP00000385319:S317G	S	+	1	0	HIC2	20130133	0.265000	0.24102	0.852000	0.33557	0.116000	0.19942	0.150000	0.16263	-0.141000	0.11374	0.459000	0.35465	AGC		0.657	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2				7	20	0	0	0	0.248553	0	7	20		
DEPDC5	9681	broad.mit.edu	37	22	32241198	32241198	+	Missense_Mutation	SNP	G	G	A	rs201245740		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:32241198G>A	ENST00000382112.3	+	29	3039	c.2969G>A	c.(2968-2970)cGg>cAg	p.R990Q	DEPDC5_ENST00000382105.2_Missense_Mutation_p.R921Q|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R999Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R921Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R999Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R999Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R990Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R990Q	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	999					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCGCAGGCGGCATCGCTCG	0.607																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2968-2970)CGG>CAG		DEP domain containing 5 isoform 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4265		0,1,2132	46.0	51.0	49.0		2969,2996,2762,2969	4.2	1.0	22		49	0,8486		0,0,4243	yes	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	43,43,43,43	0,1,6375	AA,AG,GG		0.0,0.0234,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging	990/1595,999/1604,921/1504,990/1573	32241198	1,12751	2133	4243	6376	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32241198G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2969G>A	22.37:g.32241198G>A	ENSP00000371546:p.Arg990Gln					DEPDC5_uc011als.1_Missense_Mutation_p.R921Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R999Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R990Q|DEPDC5_uc003alu.2_Missense_Mutation_p.R439Q|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.R320Q|DEPDC5_uc003alw.2_Missense_Mutation_p.R288Q|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	p.R990Q	NM_014662	NP_055477	O75140	DEPD5_HUMAN			30	3111	+			990					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2969G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193672	0.78902	2.34E-4	0.0	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.32023	1.52;1.94;1.94;1.92;1.47;1.94;1.92;1.94	5.27	4.25	0.50352	.	0.062112	0.64402	N	0.000003	T	0.39708	0.1088	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.991;0.999;0.999	D;D;D;P;D;D	0.83275	0.996;0.986;0.99;0.69;0.984;0.978	T	0.08785	-1.0705	10	0.17832	T	0.49	.	12.9601	0.58453	0.0779:0.0:0.9221:0.0	.	320;999;921;999;990;990	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	Q	921;999;990;921;999;921;990;999;990	ENSP00000440210:R921Q;ENSP00000266091:R999Q;ENSP00000383108:R990Q;ENSP00000383105:R999Q;ENSP00000371539:R921Q;ENSP00000371546:R990Q;ENSP00000371545:R999Q;ENSP00000383107:R990Q	ENSP00000266091:R999Q	R	+	2	0	DEPDC5	30571198	1.000000	0.71417	0.982000	0.44146	0.894000	0.52154	7.172000	0.77604	1.248000	0.43934	0.558000	0.71614	CGG		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		16	19	0	0	0	0.520397	0	16	19		
EP300	2033	broad.mit.edu	37	22	41564853	41564853	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:41564853G>A	ENST00000263253.7	+	25	5373	c.4154G>A	c.(4153-4155)tGc>tAc	p.C1385Y	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1385	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.C1385F(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCTCTGACTGCCCTCCACCC	0.473			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		3	Substitution - Missense(3)	p.C1385F(1)	upper_aerodigestive_tract(2)|lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4153-4155)TGC>TAC		E1A binding protein p300							181.0	159.0	166.0					22																	41564853		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564853G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4154G>A	22.37:g.41564853G>A	ENSP00000263253:p.Cys1385Tyr						p.C1385Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			25	4549	+			1385					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4154G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184987	0.78677	.	.	ENSG00000100393	ENST00000263253	D	0.93712	-3.27	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000057	D	0.97901	0.9310	H	0.94620	3.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98241	1.0488	10	0.87932	D	0	-6.3329	20.3747	0.98911	0.0:0.0:1.0:0.0	.	1385	Q09472	EP300_HUMAN	Y	1385	ENSP00000263253:C1385Y	ENSP00000263253:C1385Y	C	+	2	0	EP300	39894799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.817000	0.96982	0.563000	0.77884	TGC		0.473	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		23	143	0	0	0	0.706142	0	23	143		
XRCC6	2547	broad.mit.edu	37	22	42042976	42042976	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:42042976C>T	ENST00000359308.4	+	6	1505	c.850C>T	c.(850-852)Cct>Tct	p.P284S	XRCC6_ENST00000402580.3_Missense_Mutation_p.P243S|Y_RNA_ENST00000363462.1_RNA|XRCC6_ENST00000405878.1_Missense_Mutation_p.P284S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P151S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P284S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P234S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	284	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TCTCAAGCCTCCTCCAATAAA	0.433								Non-homologous end-joining																														uc003bao.1		NaN																	0				skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(850-852)CCT>TCT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							124.0	135.0	131.0					22																	42042976		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42042976C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.850C>T	22.37:g.42042976C>T	ENSP00000352257:p.Pro284Ser					XRCC6_uc003bap.1_Missense_Mutation_p.P243S|XRCC6_uc011apc.1_Missense_Mutation_p.P234S|XRCC6_uc003baq.1_Missense_Mutation_p.P284S|XRCC6_uc003bar.1_Missense_Mutation_p.P284S|XRCC6_uc003bas.1_Missense_Mutation_p.P234S	p.P284S	NM_001469	NP_001460	P12956	XRCC6_HUMAN			7	920	+			284			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.850C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586434	0.13749	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	4.97	-5.05	0.02955	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);	1.218270	0.05493	N	0.557051	T	0.16171	0.0389	N	0.21324	0.655	0.09310	N	1	B;B;B;B	0.13594	0.0;0.0;0.008;0.0	B;B;B;B	0.14578	0.001;0.001;0.011;0.001	T	0.25082	-1.0142	9	0.06365	T	0.9	11.1892	2.2079	0.03940	0.0987:0.3796:0.2086:0.3131	.	234;284;243;284	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	S	284;243;151;284;284;284;234	.	ENSP00000352257:P284S	P	+	1	0	XRCC6	40372922	0.000000	0.05858	0.002000	0.10522	0.975000	0.68041	-1.404000	0.02494	-1.024000	0.03338	-0.211000	0.12701	CCT		0.433	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1		NM_001469		25	217	0	0	0	0.750413	0	25	217		
FBLN1	2192	broad.mit.edu	37	22	45927195	45927195	+	Missense_Mutation	SNP	C	C	A	rs568981812		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr22:45927195C>A	ENST00000327858.6	+	5	630	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	FBLN1_ENST00000348697.2_Missense_Mutation_p.R179S|FBLN1_ENST00000442170.2_Missense_Mutation_p.R179S|FBLN1_ENST00000402984.3_Missense_Mutation_p.R217S|FBLN1_ENST00000340923.5_Missense_Mutation_p.R179S|FBLN1_ENST00000262722.7_Missense_Mutation_p.R179S	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	179	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGAATGACCGCTGCCGAGG	0.488																																						uc003bgj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(535-537)CGC>AGC		fibulin 1 isoform D							109.0	110.0	109.0					22																	45927195		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45927195C>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.535C>A	22.37:g.45927195C>A	ENSP00000331544:p.Arg179Ser					FBLN1_uc003bgg.1_Missense_Mutation_p.R179S|FBLN1_uc003bgh.2_Missense_Mutation_p.R179S|FBLN1_uc010gzz.2_Missense_Mutation_p.R217S|FBLN1_uc003bgi.1_Missense_Mutation_p.R179S	p.R179S	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	5	682	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	179			EGF-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.535C>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823102	0.71143	.	.	ENSG00000077942	ENST00000411478;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000454279	T;D;D;D;D;D;D;T	0.86297	0.49;-1.67;-2.1;-1.97;-1.77;-1.71;-1.62;0.57	4.97	4.97	0.65823	Epidermal growth factor-like (1);	0.238536	0.44285	D	0.000477	D	0.88680	0.6502	L	0.28649	0.875	0.42635	D	0.993392	D;D;P;D	0.89917	0.988;1.0;0.904;0.996	P;D;B;P	0.85130	0.834;0.997;0.283;0.868	D	0.86374	0.1725	10	0.24483	T	0.36	.	14.9416	0.70997	0.0:0.8564:0.1436:0.0	.	217;179;179;179	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	S	187;179;217;179;179;179;179;137	ENSP00000415289:R187S;ENSP00000262723:R179S;ENSP00000385521:R217S;ENSP00000262722:R179S;ENSP00000331544:R179S;ENSP00000393812:R179S;ENSP00000342212:R179S;ENSP00000414584:R137S	ENSP00000262722:R179S	R	+	1	0	FBLN1	44305859	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.177000	0.50871	2.472000	0.83506	0.655000	0.94253	CGC		0.488	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1		NM_006486		29	43	1	0	9.80977e-26	0.796494	1.04837e-25	29	43		
GRM7	2917	broad.mit.edu	37	3	7456742	7456742	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:7456742G>A	ENST00000357716.4	+	5	1340	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	GRM7_ENST00000402647.2_Missense_Mutation_p.E356K|GRM7_ENST00000403881.1_Missense_Mutation_p.E356K|GRM7_ENST00000389336.4_Missense_Mutation_p.E356K|GRM7_ENST00000486284.1_Missense_Mutation_p.E356K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	356					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCGTACACTTGAAAACAACAG	0.403																																						uc003bqm.2		NaN																	0				ovary(4)|lung(3)	7						c.(1066-1068)GAA>AAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						88.0	80.0	83.0					3																	7456742		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456742G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1066G>A	3.37:g.7456742G>A	ENSP00000350348:p.Glu356Lys					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E356K|GRM7_uc003bql.2_Missense_Mutation_p.E356K|GRM7_uc003bqn.1_5'UTR	p.E356K	NM_000844	NP_000835	Q14831	GRM7_HUMAN			5	1340	+			356			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1066G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626986	0.46840	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.7	5.7	0.88788	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89921	0.6855	L	0.54965	1.715	0.58432	D	0.999994	D;D;B	0.69078	0.974;0.997;0.007	D;D;B	0.79108	0.969;0.992;0.036	D	0.85264	0.1052	10	0.14252	T	0.57	.	18.765	0.91868	0.0:0.0:1.0:0.0	.	356;356;356	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	K	356;356;356;356;356;356;356;13	ENSP00000350348:E356K;ENSP00000417536:E356K;ENSP00000373987:E356K;ENSP00000385664:E356K;ENSP00000384585:E356K;ENSP00000395035:E13K	ENSP00000350348:E356K	E	+	1	0	GRM7	7431742	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	7.733000	0.84916	2.855000	0.98099	0.650000	0.86243	GAA		0.403	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		12	31	0	0	0	0.435327	0	12	31		
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:48699002C>G	ENST00000164024.4	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CELSR3_ENST00000544264.1_Missense_Mutation_p.E356Q|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1066-1068)GAG>CAG		cadherin EGF LAG seven-pass G-type receptor 3							26.0	32.0	30.0					3																	48699002		2186	4270	6456	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699002C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1066G>C	3.37:g.48699002C>G	ENSP00000164024:p.Glu356Gln					CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q	p.E356Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1347	-			356			Extracellular (Potential).|Cadherin 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1066G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598398	0.87055	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.50548	0.74;0.74	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60130	0.2245	L	0.31120	0.905	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.973	T	0.60193	-0.7311	9	0.52906	T	0.07	.	19.4133	0.94685	0.0:1.0:0.0:0.0	.	356;426	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	356	ENSP00000164024:E356Q;ENSP00000445694:E356Q	ENSP00000164024:E356Q	E	-	1	0	CELSR3	48674006	1.000000	0.71417	0.917000	0.36280	0.987000	0.75469	7.665000	0.83852	2.700000	0.92200	0.561000	0.74099	GAG		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		12	51	0	0	0	0.457914	0	12	51		
SEMA5B	54437	broad.mit.edu	37	3	122634684	122634684	+	Missense_Mutation	SNP	C	C	T	rs199707337		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:122634684C>T	ENST00000357599.3	-	13	2128	c.1742G>A	c.(1741-1743)cGt>cAt	p.R581H	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R581H|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R635H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	581					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGCTGCAACGTTGCTGCTT	0.622																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1741-1743)CGT>CAT		semaphorin 5B isoform 1							121.0	114.0	117.0					3																	122634684		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634684C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1742G>A	3.37:g.122634684C>T	ENSP00000350215:p.Arg581His					SEMA5B_uc011bju.1_Missense_Mutation_p.R523H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R581H|SEMA5B_uc010hro.1_Missense_Mutation_p.R523H	p.R581H	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	13	2046	-			581			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1742G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573303	0.65765	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.64	3.74	0.42951	.	0.061911	0.64402	D	0.000003	T	0.30324	0.0761	M	0.76002	2.32	0.48288	D	0.99962	B;B;B	0.22746	0.013;0.074;0.074	B;B;B	0.24269	0.019;0.052;0.052	T	0.16041	-1.0416	10	0.72032	D	0.01	.	10.8293	0.46650	0.1968:0.8032:0.0:0.0	.	523;581;581	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	H	581;581;523;635;581	ENSP00000350215:R581H;ENSP00000195173:R581H;ENSP00000389588:R635H;ENSP00000377208:R581H	ENSP00000195173:R581H	R	-	2	0	SEMA5B	124117374	0.472000	0.25870	0.999000	0.59377	0.998000	0.95712	2.699000	0.47077	1.109000	0.41680	0.561000	0.74099	CGT		0.622	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		32	44	0	0	0	0.788014	0	32	44		
MRPL3	11222	broad.mit.edu	37	3	131220433	131220433	+	Silent	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:131220433T>C	ENST00000264995.3	-	2	366	c.219A>G	c.(217-219)ttA>ttG	p.L73L	MRPL3_ENST00000425847.2_Silent_p.L100L|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	73					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTTTACTTGCTAATTGGGCTT	0.398																																						uc003eoh.2		NaN																	0					0						c.(217-219)TTA>TTG		mitochondrial ribosomal protein L3							230.0	225.0	227.0					3																	131220433		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131220433T>C	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.219A>G	3.37:g.131220433T>C						MRPL3_uc011blo.1_5'UTR|MRPL3_uc011blp.1_Silent_p.L100L	p.L73L	NM_007208	NP_009139	P09001	RM03_HUMAN			2	383	-			73					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.219A>G	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326103	0.24080	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.69	0.801	0.18679	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46952	-0.9154	4	.	.	.	-9.9036	8.5921	0.33693	0.0:0.3184:0.0:0.6816	.	.	.	.	G	88	.	.	S	-	1	0	MRPL3	132703123	0.996000	0.38824	0.923000	0.36655	0.965000	0.64279	0.149000	0.16243	0.121000	0.18284	0.533000	0.62120	AGC		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3		NM_007208		96	184	0	0	0	0.870114	0	96	184		
WDR49	151790	broad.mit.edu	37	3	167254660	167254660	+	Missense_Mutation	SNP	G	G	A	rs200695837		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:167254660G>A	ENST00000308378.3	-	7	1201	c.896C>T	c.(895-897)aCg>aTg	p.T299M	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.T124M|WDR49_ENST00000453925.2_Missense_Mutation_p.T363M	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	299										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAATTTACCCGTAACAAGAGT	0.373																																						uc003fev.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(895-897)ACG>ATG		WD repeat domain 49							64.0	60.0	62.0					3																	167254660		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167254660G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.896C>T	3.37:g.167254660G>A	ENSP00000311343:p.Thr299Met					WDR49_uc003feu.1_Missense_Mutation_p.T124M|WDR49_uc011bpd.1_Missense_Mutation_p.T363M|WDR49_uc003few.1_Intron	p.T299M	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			7	1202	-			299			WD 5.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.896C>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702932|2.702932	0.48412|0.48412	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.68181	.|-0.31;-0.31;-0.31	5.69|5.69	5.69|5.69	0.88448|0.88448	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88559|0.88559	0.6469|0.6469	H|H	0.96633|0.96633	3.855|3.855	0.39988|0.39988	D|D	0.975001|0.975001	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.997	D|D	0.92253|0.92253	0.5810|0.5810	5|10	.|0.87932	.|D	.|0	.|.	18.5851|18.5851	0.91187|0.91187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|363;299	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	W|M	375|299;124;363	.|ENSP00000311343:T299M;ENSP00000420508:T124M;ENSP00000410863:T363M	.|ENSP00000311343:T299M	R|T	-|-	1|2	2|0	WDR49|WDR49	168737354|168737354	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.003000|0.003000	0.03518|0.03518	6.671000|6.671000	0.74472|0.74472	2.700000|2.700000	0.92200|0.92200	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		14	26	0	0	0	0.520397	0	14	26		
FIP1L1	81608	broad.mit.edu	37	4	54248502	54248502	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54248502G>A	ENST00000337488.6	+	4	422	c.228G>A	c.(226-228)ccG>ccA	p.P76P	FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Splice_Site_p.P61P|FIP1L1_ENST00000507922.1_Splice_Site_p.P61P|FIP1L1_ENST00000306932.6_Splice_Site_p.P61P|FIP1L1_ENST00000507166.1_Splice_Site_p.P76P	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	76	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TACCAAAACCGGTAACATAAG	0.348			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2		NaN		Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(226-228)CCG>CCA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						146.0	132.0	137.0					4																	54248502		2203	4300	6503	SO:0001630	splice_region_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:54248502G>A	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.228+1G>A	4.37:g.54248502G>A		TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Silent_p.P61P|FIP1L1_uc011bzt.1_Silent_p.P76P|FIP1L1_uc003gzy.2_Silent_p.P76P|FIP1L1_uc011bzu.1_Silent_p.P61P|FIP1L1_uc003gzz.2_Silent_p.P61P|FIP1L1_uc003hab.2_Silent_p.P64P|FIP1L1_uc003hac.2_5'UTR	p.P76P	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		4	414	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	c.228G>A	CCDS3491.1																																																																																				0.348	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917	Silent	9	69	0	0	0	0.361761	0	9	69		
FIP1L1	81608	broad.mit.edu	37	4	54257217	54257217	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:54257217G>C	ENST00000337488.6	+	8	741	c.547G>C	c.(547-549)Gat>Cat	p.D183H	FIP1L1_ENST00000358575.5_Missense_Mutation_p.D168H|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D168H|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D168H|FIP1L1_ENST00000507166.1_Missense_Mutation_p.D183H	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	183	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTAATGAAGATACCTGGAA	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2		NaN		Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(547-549)GAT>CAT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						74.0	83.0	80.0					4																	54257217		2202	4300	6502	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:54257217G>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.547G>C	4.37:g.54257217G>C	ENSP00000336752:p.Asp183His	TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Missense_Mutation_p.D168H|FIP1L1_uc011bzt.1_Missense_Mutation_p.D183H|FIP1L1_uc003gzy.2_Missense_Mutation_p.D183H|FIP1L1_uc011bzu.1_Missense_Mutation_p.D168H|FIP1L1_uc003gzz.2_Missense_Mutation_p.D168H|FIP1L1_uc003hab.2_Missense_Mutation_p.D171H|FIP1L1_uc003hac.2_5'UTR	p.D183H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	733	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Error:Variant_position_missing_in_P16234_after_alignment					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.547G>C	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187646	0.78789	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T	0.78364	1.92;-1.17	5.72	5.72	0.89469	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	L	0.46947	1.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.984;0.997;0.993;0.991	T	0.82975	-0.0190	10	0.36615	T	0.2	-12.6825	19.88	0.96892	0.0:0.0:1.0:0.0	.	168;168;183;168	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	H	183;168;168;168;183	ENSP00000302993:D168H;ENSP00000423325:D183H	ENSP00000302993:D168H	D	+	1	0	FIP1L1	53951974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.703000	0.92315	0.655000	0.94253	GAT		0.303	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917		4	58	0	0	0	0.184627	0	4	58		
CXCL11	6373	broad.mit.edu	37	4	76956259	76956259	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:76956259C>G	ENST00000503860.1	-	4	580	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	CXCL11_ENST00000306621.3_Missense_Mutation_p.E68Q|ART3_ENST00000341029.5_Intron			O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	68					cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTTATTTTCTTTCAGGGTA	0.333																																					Pancreas(31;57 931 1690 18027 37686)	uc003hjm.2		NaN																	0					0						c.(202-204)GAA>CAA		small inducible cytokine B11 precursor							148.0	144.0	146.0					4																	76956259		2202	4300	6502	SO:0001583	missense	6373				cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr4:76956259C>G	U66096	CCDS3574.1	4q21	2013-02-25	2002-08-22	2002-08-23	ENSG00000169248	ENSG00000169248		"""Endogenous ligands"""	10638	protein-coding gene	gene with protein product		604852	"""small inducible cytokine subfamily B (Cys-X-Cys), member 11"""	SCYB9B, SCYB11		9730616	Standard	NM_005409		Approved	H174, b-R1, I-TAC, IP-9	uc003hjm.3	O14625	OTTHUMG00000130101	ENST00000503860.1:c.202G>C	4.37:g.76956259C>G	ENSP00000425819:p.Glu68Gln					ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	p.E68Q	NM_005409	NP_005400	O14625	CXL11_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	295	-			68					Q53YA3|Q92840	Missense_Mutation	SNP	ENST00000503860.1	37	c.202G>C	CCDS3574.1	.	.	.	.	.	.	.	.	.	.	C	5.545	0.285432	0.10513	.	.	ENSG00000169248	ENST00000306621;ENST00000503860	T;T	0.04551	3.6;3.6	5.09	1.18	0.20946	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.807228	0.10828	N	0.629678	T	0.03095	0.0091	.	.	.	0.19945	N	0.999949	B	0.30211	0.273	B	0.31686	0.134	T	0.49688	-0.8913	9	0.15499	T	0.54	-0.2511	6.8709	0.24121	0.0:0.5904:0.0:0.4096	.	68	O14625	CXL11_HUMAN	Q	68	ENSP00000306884:E68Q;ENSP00000425819:E68Q	ENSP00000306884:E68Q	E	-	1	0	CXCL11	77175283	0.019000	0.18553	0.907000	0.35723	0.328000	0.28507	-0.381000	0.07417	0.203000	0.20529	0.557000	0.71058	GAA		0.333	CXCL11-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362816.1				11	73	0	0	0	0.435327	0	11	73		
LRBA	987	broad.mit.edu	37	4	151357947	151357947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr4:151357947G>A	ENST00000357115.3	-	46	7126	c.6883C>T	c.(6883-6885)Caa>Taa	p.Q2295*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.Q2284*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.Q2284*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.Q2284*|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2295	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTTGGAACTTGATCATCTTCC	0.393																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(6883-6885)CAA>TAA		LPS-responsive vesicle trafficking, beach and							96.0	84.0	88.0					4																	151357947		2203	4300	6503	SO:0001587	stop_gained	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151357947G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6883C>T	4.37:g.151357947G>A	ENSP00000349629:p.Gln2295*					LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Nonsense_Mutation_p.Q185*|LRBA_uc003ilt.3_Nonsense_Mutation_p.Q943*|LRBA_uc003ilu.3_Nonsense_Mutation_p.Q2284*	p.Q2295*	NM_006726	NP_006717	P50851	LRBA_HUMAN			46	7357	-	all_hematologic(180;0.151)		2295			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	c.6883C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	51	17.901593	0.99895	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	2284;2284;2295;2284	.	ENSP00000349629:Q2295X	Q	-	1	0	LRBA	151577397	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.771000	0.98977	2.798000	0.96311	0.655000	0.94253	CAA		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				11	38	0	0	0	0.435327	0	11	38		
SLC9A3	6550	broad.mit.edu	37	5	485324	485324	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:485324G>A	ENST00000264938.3	-	4	707	c.698C>T	c.(697-699)tCt>tTt	p.S233F	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S233F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	233					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCCACGAAAGATTCAAACAC	0.632																																						uc003jbe.2		NaN																	0					0						c.(697-699)TCT>TTT		solute carrier family 9 (sodium/hydrogen							165.0	135.0	145.0					5																	485324		2201	4300	6501	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:485324G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.698C>T	5.37:g.485324G>A	ENSP00000264938:p.Ser233Phe					SLC9A3_uc011clx.1_Missense_Mutation_p.S233F	p.S233F	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	810	-			233			Extracellular (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.698C>T	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509604	0.44660	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.17370	2.28;2.28	4.14	4.14	0.48551	Cation/H+ exchanger (1);	0.353536	0.29444	N	0.012138	T	0.43831	0.1265	M	0.77103	2.36	0.36223	D	0.852092	D;D	0.76494	0.999;0.999	D;D	0.77557	0.972;0.99	T	0.60505	-0.7250	10	0.87932	D	0	.	16.3914	0.83541	0.0:0.0:1.0:0.0	.	233;233	E9PF67;P48764	.;SL9A3_HUMAN	F	233	ENSP00000264938:S233F;ENSP00000422983:S233F	ENSP00000264938:S233F	S	-	2	0	SLC9A3	538324	1.000000	0.71417	0.721000	0.30653	0.112000	0.19704	6.924000	0.75823	2.027000	0.59764	0.555000	0.69702	TCT		0.632	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174		26	74	0	0	0	0.740014	0	26	74		
SRD5A1	6715	broad.mit.edu	37	5	6656219	6656219	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:6656219G>T	ENST00000274192.5	+	3	723	c.489G>T	c.(487-489)ttG>ttT	p.L163F	SRD5A1_ENST00000538824.1_Missense_Mutation_p.L116F|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	163					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.L163L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	CGGGCATGTTGATAAACATCC	0.388																																						uc003jdw.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(487-489)TTG>TTT		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)						117.0	111.0	113.0					5																	6656219		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6656219G>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.489G>T	5.37:g.6656219G>T	ENSP00000274192:p.Leu163Phe					SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.L116F	p.L163F	NM_001047	NP_001038	P18405	S5A1_HUMAN			3	679	+			163			Helical; (Potential).		B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.489G>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725253	0.30593	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.34472	1.36;1.36	4.69	2.84	0.33178	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.650998	0.15169	N	0.276744	T	0.18551	0.0445	L	0.31207	0.915	0.80722	D	1	B;B	0.28026	0.198;0.025	B;B	0.26517	0.07;0.036	T	0.07501	-1.0769	10	0.10111	T	0.7	-12.656	1.6943	0.02859	0.143:0.198:0.4543:0.2046	.	116;163	F5GXK9;P18405	.;S5A1_HUMAN	F	163;116	ENSP00000274192:L163F;ENSP00000440186:L116F	ENSP00000274192:L163F	L	+	3	2	SRD5A1	6709219	0.982000	0.34865	0.995000	0.50966	0.868000	0.49771	0.588000	0.23924	1.290000	0.44636	0.655000	0.94253	TTG		0.388	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1		NM_001047		16	30	1	0	1.10513e-12	0.624587	1.15462e-12	16	30		
CTNND2	1501	broad.mit.edu	37	5	10981933	10981933	+	Silent	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:10981933C>T	ENST00000304623.8	-	21	3558	c.3369G>A	c.(3367-3369)ttG>ttA	p.L1123L	CTNND2_ENST00000458100.2_Silent_p.L690L|CTNND2_ENST00000503622.1_Silent_p.L786L|CTNND2_ENST00000511377.1_Silent_p.L1032L|CTNND2_ENST00000359640.2_Silent_p.L1065L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1123					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATTCCTATACAAAGTTGAAA	0.343																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(3367-3369)TTG>TTA		catenin (cadherin-associated protein), delta 2							135.0	134.0	134.0					5																	10981933		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10981933C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3369G>A	5.37:g.10981933C>T						CTNND2_uc010itt.2_Silent_p.L1032L|CTNND2_uc011cmy.1_Silent_p.L786L|CTNND2_uc011cmz.1_Silent_p.L690L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L715L	p.L1123L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			21	3514	-			1123					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.3369G>A	CCDS3881.1																																																																																				0.343	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		10	125	0	0	0	0.435327	0	10	125		
ERBB2IP	55914	broad.mit.edu	37	5	65310528	65310528	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:65310528G>A	ENST00000284037.5	+	7	897	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E170K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	170					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.E170K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGCTTAGAGAAAACCAGTT	0.209																																						uc003juk.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(508-510)GAA>AAA		ERBB2 interacting protein isoform 2							26.0	27.0	27.0					5																	65310528		2155	4227	6382	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65310528G>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.508G>A	5.37:g.65310528G>A	ENSP00000284037:p.Glu170Lys					ERBB2IP_uc003juh.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jui.1_Missense_Mutation_p.E170K|ERBB2IP_uc003juj.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E170K|ERBB2IP_uc011cqz.1_Missense_Mutation_p.E170K|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E170K|ERBB2IP_uc003jul.1_Missense_Mutation_p.E170K	p.E170K	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	7	816	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	170			LRR 7.		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.508G>A	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285082	0.95517	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.31371	0.925	0.80722	D	1	P;D;D;D;P;D;D;D	0.76494	0.95;0.986;0.997;0.999;0.852;0.999;0.992;0.998	D;P;D;D;P;D;D;D	0.83275	0.925;0.857;0.98;0.99;0.545;0.996;0.933;0.919	T	0.01165	-1.1431	10	0.87932	D	0	.	19.6673	0.95898	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	K	170	ENSP00000284037:E170K;ENSP00000370330:E170K;ENSP00000397833:E170K;ENSP00000370326:E170K;ENSP00000370323:E170K;ENSP00000370322:E170K;ENSP00000370325:E170K;ENSP00000422766:E170K;ENSP00000426632:E170K;ENSP00000422015:E170K	ENSP00000284037:E170K	E	+	1	0	ERBB2IP	65346284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.627000	0.90974	2.721000	0.93114	0.650000	0.86243	GAA		0.209	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695		7	24	0	0	0	0.307466	0	7	24		
DMXL1	1657	broad.mit.edu	37	5	118485340	118485340	+	Missense_Mutation	SNP	C	C	T	rs529056242		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:118485340C>T	ENST00000311085.8	+	18	3898	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1273F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1273										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACTCCAGTTCTGGGTTACAT	0.403																																						uc003ksd.2		NaN																	0				ovary(2)	2						c.(3817-3819)TCT>TTT		Dmx-like 1							57.0	56.0	56.0					5																	118485340		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118485340C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3818C>T	5.37:g.118485340C>T	ENSP00000309690:p.Ser1273Phe					DMXL1_uc010jcl.1_Missense_Mutation_p.S1273F	p.S1273F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3999	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1273						Missense_Mutation	SNP	ENST00000311085.8	37	c.3818C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340668	0.24339	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.11063	2.81;2.81	5.56	4.46	0.54185	.	0.522907	0.21511	N	0.073380	T	0.06142	0.0159	N	0.08118	0	0.45172	D	0.998188	B;B	0.13594	0.008;0.0	B;B	0.15870	0.014;0.002	T	0.35001	-0.9806	10	0.30854	T	0.27	-8.4722	11.6981	0.51554	0.0:0.8995:0.0:0.1005	.	1273;1273	F5H269;Q9Y485	.;DMXL1_HUMAN	F	1273	ENSP00000309690:S1273F;ENSP00000439479:S1273F	ENSP00000309690:S1273F	S	+	2	0	DMXL1	118513239	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.349000	0.44054	1.344000	0.45657	0.655000	0.94253	TCT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		NM_005509		7	69	0	0	0	0.27861	0	7	69		
PCDHA7	56141	broad.mit.edu	37	5	140214244	140214244	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140214244C>G	ENST00000525929.1	+	1	276	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.R92R	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	0				ovary(2)|skin(2)	4						c.(274-276)CGC>CGG		protocadherin alpha 7 isoform 1 precursor							116.0	141.0	133.0					5																	140214244		2203	4297	6500	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214244C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.276C>G	5.37:g.140214244C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R92R	p.R92R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	276	+			92			Cadherin 1.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.276C>G	CCDS54918.1																																																																																				0.587	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		83	570	0	0	0	0.870114	0	83	570		
PCDHA9	9752	broad.mit.edu	37	5	140228356	140228356	+	Silent	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140228356C>G	ENST00000532602.1	+	1	1309	c.276C>G	c.(274-276)cgC>cgG	p.R92R	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.R92R|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(274-276)CGC>CGG		protocadherin alpha 9 isoform 1 precursor							97.0	93.0	94.0					5																	140228356		2198	4264	6462	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228356C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.276C>G	5.37:g.140228356C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.R92R	p.R92R	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1000	+			92			Cadherin 1.|Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.276C>G	CCDS54920.1																																																																																				0.587	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		46	19	0	0	0	0.870114	0	46	19		
PCDHB11	56125	broad.mit.edu	37	5	140580672	140580672	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:140580672C>G	ENST00000354757.3	+	1	1325	c.1325C>G	c.(1324-1326)tCt>tGt	p.S442C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S77C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTTGGTCTCTGACGTCAAT	0.572																																						uc003liy.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1324-1326)TCT>TGT		protocadherin beta 11 precursor							154.0	137.0	143.0					5																	140580672		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580672C>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1325C>G	5.37:g.140580672C>G	ENSP00000346802:p.Ser442Cys					PCDHB11_uc011daj.1_Missense_Mutation_p.S77C	p.S442C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1325	+			442			Extracellular (Potential).|Cadherin 4.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1325C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357680	0.41801	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.01871	4.59;4.59	2.52	2.52	0.30459	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.21267	0.0512	H	0.99225	4.475	0.09310	N	1	D	0.53885	0.963	P	0.58873	0.847	T	0.30679	-0.9970	9	0.87932	D	0	.	13.0768	0.59091	0.0:1.0:0.0:0.0	.	442	Q9Y5F2	PCDBB_HUMAN	C	77;442;130	ENSP00000440344:S77C;ENSP00000346802:S442C	ENSP00000346802:S442C	S	+	2	0	PCDHB11	140560856	0.005000	0.15991	0.029000	0.17559	0.009000	0.06853	1.974000	0.40559	1.417000	0.47077	0.306000	0.20318	TCT		0.572	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931		40	228	0	0	0	0.870114	0	40	228		
THG1L	54974	broad.mit.edu	37	5	157159883	157159883	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr5:157159883G>A	ENST00000231198.7	+	2	443	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	67					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)	p.E67K(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTTTGCTGAGAAGCACAA	0.473																																						uc003lxd.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GAG>AAG		interphase cytoplasmic foci protein 45							104.0	100.0	101.0					5																	157159883		2203	4300	6503	SO:0001583	missense	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157159883G>A	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.199G>A	5.37:g.157159883G>A	ENSP00000231198:p.Glu67Lys					THG1L_uc011ddu.1_5'UTR	p.E67K	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	325	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	67					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	ENST00000231198.7	37	c.199G>A	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635147	0.47049	.	.	ENSG00000113272	ENST00000231198	T	0.41758	0.99	5.87	5.87	0.94306	.	0.231972	0.51477	D	0.000098	T	0.27349	0.0671	N	0.20807	0.61	0.80722	D	1	B	0.29862	0.259	B	0.23018	0.043	T	0.15464	-1.0436	10	0.02654	T	1	-20.7334	20.2191	0.98319	0.0:0.0:1.0:0.0	.	67	Q9NWX6	THG1_HUMAN	K	67	ENSP00000231198:E67K	ENSP00000231198:E67K	E	+	1	0	THG1L	157092461	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.748000	0.98867	2.780000	0.95670	0.655000	0.94253	GAG		0.473	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2		NM_017872		6	81	0	0	0	0.27861	0	6	81		
HIST1H2BD	3017	broad.mit.edu	37	6	26158562	26158562	+	Missense_Mutation	SNP	C	C	G	rs141600148	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:26158562C>G	ENST00000289316.2	+	1	189	c.165C>G	c.(163-165)atC>atG	p.I55M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I55M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	55					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACACCGGCATCTCTTCCAAGG	0.562																																						uc003ngr.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(163-165)ATC>ATG		histone cluster 1, H2bd							200.0	185.0	190.0					6																	26158562		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158562C>G	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.165C>G	6.37:g.26158562C>G	ENSP00000289316:p.Ile55Met					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.I55M	p.I55M	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	214	+			55						Missense_Mutation	SNP	ENST00000289316.2	37	c.165C>G	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	15.92	2.974846	0.53720	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.73152	-0.72;-0.72	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.42294	D	0.000722	T	0.74222	0.3688	M	0.89904	3.07	0.40857	D	0.983809	B	0.22211	0.066	B	0.34931	0.192	T	0.76934	-0.2775	10	0.87932	D	0	.	15.8128	0.78578	0.0:0.8638:0.1362:0.0	.	55	P58876	H2B1D_HUMAN	M	55	ENSP00000367008:I55M;ENSP00000289316:I55M	ENSP00000289316:I55M	I	+	3	3	HIST1H2BD	26266541	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	2.636000	0.46545	2.820000	0.97059	0.650000	0.86243	ATC		0.562	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1		NM_021063		30	245	0	0	0	0.729181	0	30	245		
MDC1	9656	broad.mit.edu	37	6	30672587	30672587	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:30672587G>C	ENST00000376406.3	-	10	5020	c.4373C>G	c.(4372-4374)tCc>tGc	p.S1458C	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1194C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.S1458Y(1)		breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.567								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4372-4374)TCC>TGC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							113.0	124.0	120.0					6																	30672587		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672587G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4373C>G	6.37:g.30672587G>C	ENSP00000365588:p.Ser1458Cys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1065C	p.S1458C	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4813	-			1458			Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4373C>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357289	0.41801	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.14022	2.54;2.54	4.46	0.355	0.16069	.	.	.	.	.	T	0.15998	0.0385	M	0.71581	2.175	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.94	T	0.04781	-1.0927	9	0.62326	D	0.03	1.3723	5.1351	0.14930	0.1897:0.3233:0.487:0.0	.	1194;1458	Q14676-2;Q14676	.;MDC1_HUMAN	C	1458;1194;1171;1024	ENSP00000365588:S1458C;ENSP00000365587:S1194C	ENSP00000365587:S1194C	S	-	2	0	MDC1	30780566	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.867000	0.27968	-0.041000	0.13558	0.449000	0.29647	TCC		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		41	149	0	0	0	0.870114	0	41	149		
IP6K3	117283	broad.mit.edu	37	6	33694647	33694647	+	Silent	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:33694647G>C	ENST00000293756.4	-	4	776	c.450C>G	c.(448-450)ctC>ctG	p.L150L	IP6K3_ENST00000451316.1_Silent_p.L150L	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CTGGAGTGTTGAGGTGGGGCT	0.647																																						uc010jvf.2		NaN																	0					0						c.(448-450)CTC>CTG		inositol hexakisphosphate kinase 3							80.0	78.0	79.0					6																	33694647		2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33694647G>C	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.450C>G	6.37:g.33694647G>C						IP6K3_uc003ofb.2_Silent_p.L150L	p.L150L	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			5	986	-			150					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.450C>G	CCDS34435.1																																																																																				0.647	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1		NM_054111		6	129	0	0	0	0.307466	0	6	129		
DAAM2	23500	broad.mit.edu	37	6	39869784	39869784	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:39869784G>A	ENST00000398904.2	+	25	3360	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	DAAM2_ENST00000274867.4_Missense_Mutation_p.E1060K|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.E1059K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1060					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTACCCGGGAGCGGGCAAT	0.612																																						uc003oow.2		NaN																	0				ovary(2)|skin(1)	3						c.(3178-3180)GAG>AAG		dishevelled associated activator of							27.0	31.0	30.0					6																	39869784		1944	4122	6066	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869784G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3178G>A	6.37:g.39869784G>A	ENSP00000381876:p.Glu1060Lys					DAAM2_uc003oox.2_Missense_Mutation_p.E1059K	p.E1060K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			25	3334	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		1060					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.3178G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596844	0.96602	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.79653	-1.29;-1.29;-1.29	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.67548	0.882;0.952	D	0.88504	0.3084	10	0.72032	D	0.01	.	18.1768	0.89764	0.0:0.0:1.0:0.0	.	1059;1060	G5EA45;Q86T65	.;DAAM2_HUMAN	K	1060;1060;1059	ENSP00000274867:E1060K;ENSP00000381876:E1060K;ENSP00000437808:E1059K	ENSP00000274867:E1060K	E	+	1	0	DAAM2	39977762	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.633000	0.83260	2.621000	0.88768	0.650000	0.86243	GAG		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1				12	32	0	0	0	0.435327	0	12	32		
ABCC10	89845	broad.mit.edu	37	6	43400565	43400565	+	Missense_Mutation	SNP	C	C	T	rs376319036		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:43400565C>T	ENST00000372530.4	+	3	1062	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R240W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCCTTTGGACGGTGCTATCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16859	0.001		0.0	False		,,,				2504	0.0					uc003ouy.1		NaN																	0				ovary(6)|central_nervous_system(1)	7						c.(847-849)CGG>TGG		ATP-binding cassette, sub-family C, member 10		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	54.0	55.0	54.0		847,718	3.6	0.0	6		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	283/1493,240/1465	43400565	1,13005	2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400565C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.847C>T	6.37:g.43400565C>T	ENSP00000361608:p.Arg283Trp					ABCC10_uc003ouz.1_Missense_Mutation_p.R240W|ABCC10_uc010jyo.1_5'Flank	p.R283W	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1062	+	all_lung(25;0.00536)		283					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.847C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230123	0.22542	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91894	-2.93;-2.93	5.39	3.59	0.41128	ABC transporter, transmembrane domain, type 1 (1);	0.780480	0.11871	N	0.521427	T	0.72399	0.3455	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.62737	-0.6791	10	0.35671	T	0.21	0.1299	6.9068	0.24313	0.0:0.7013:0.1431:0.1555	.	240;283	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	283;240	ENSP00000361608:R283W;ENSP00000244533:R240W	ENSP00000244533:R240W	R	+	1	2	ABCC10	43508543	0.039000	0.19947	0.031000	0.17742	0.925000	0.55904	1.010000	0.29898	0.634000	0.30469	0.561000	0.74099	CGG		0.627	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2		NM_033450		4	50	0	0	0	0.184627	0	4	50		
PLA2G7	7941	broad.mit.edu	37	6	46684211	46684211	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:46684211G>T	ENST00000274793.7	-	4	482	c.286C>A	c.(286-288)Ctt>Att	p.L96I	PLA2G7_ENST00000538237.1_Missense_Mutation_p.L51I|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L96I	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	96					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GGGATCCAAAGGGTGTCAAGG	0.373																																						uc010jzf.2		NaN																	0					0						c.(286-288)CTT>ATT		phospholipase A2, group VII							105.0	106.0	106.0					6																	46684211		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46684211G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.286C>A	6.37:g.46684211G>T	ENSP00000274793:p.Leu96Ile					PLA2G7_uc010jzg.1_Missense_Mutation_p.L96I|PLA2G7_uc011dwd.1_Missense_Mutation_p.L51I|PLA2G7_uc011dwe.1_Intron	p.L96I	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		4	555	-			96					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.286C>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	8.532	0.871163	0.17322	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237	T;T;T	0.58797	0.31;0.31;0.31	5.29	-1.69	0.08186	.	0.397620	0.24901	N	0.034700	T	0.32912	0.0845	M	0.79123	2.44	0.20873	N	0.999839	B;B;B	0.33448	0.126;0.412;0.412	B;B;B	0.38106	0.085;0.265;0.265	T	0.42413	-0.9453	10	0.19147	T	0.46	.	6.8306	0.23907	0.0756:0.5006:0.3021:0.1218	.	51;96;96	F5GYY6;A8K2W6;Q13093	.;.;PAFA_HUMAN	I	96;96;51	ENSP00000274793:L96I;ENSP00000445666:L96I;ENSP00000441416:L51I	ENSP00000274793:L96I	L	-	1	0	PLA2G7	46792170	0.000000	0.05858	0.042000	0.18584	0.116000	0.19942	-0.038000	0.12144	-0.220000	0.09988	-0.302000	0.09304	CTT		0.373	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1				7	73	1	0	2.74318e-10	0.335167	2.84478e-10	7	73		
C6orf211	79624	broad.mit.edu	37	6	151779478	151779478	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:151779478G>A	ENST00000367294.3	+	3	422	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	55										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CGTGGAAGCTGAAAAGAAAGC	0.348																																						uc003qok.1		NaN																	0					0						c.(163-165)GAA>AAA		hypothetical protein LOC79624							109.0	110.0	110.0					6																	151779478		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151779478G>A	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.163G>A	6.37:g.151779478G>A	ENSP00000356263:p.Glu55Lys					C6orf211_uc011ees.1_5'UTR	p.E55K	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	3	422	+			55					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.163G>A	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784224	0.90282	.	.	ENSG00000146476	ENST00000367294	T	0.07114	3.22	5.85	4.97	0.65823	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	M	0.80028	2.48	0.80722	D	1	B	0.34399	0.452	P	0.45138	0.471	T	0.02238	-1.1190	10	0.25106	T	0.35	.	15.2391	0.73455	0.0681:0.0:0.9319:0.0	.	55	Q9H993	CF211_HUMAN	K	55	ENSP00000356263:E55K	ENSP00000356263:E55K	E	+	1	0	C6orf211	151821171	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.011000	0.88624	2.767000	0.95098	0.563000	0.77884	GAA		0.348	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1		NM_024573		16	155	0	0	0	0.575678	0	16	155		
WTAP	9589	broad.mit.edu	37	6	160174530	160174530	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:160174530T>C	ENST00000358372.4	+	7	2248	c.491T>C	c.(490-492)cTt>cCt	p.L164P	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	164					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.M163_L164delML(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TGTCGAATGCTTATCCAGGAG	0.438																																						uc003qsl.2		NaN																	1	Deletion - In frame(1)		prostate(1)		0						c.(490-492)CTT>CCT		Wilms' tumour 1-associating protein isoform 1							125.0	118.0	120.0					6																	160174530		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174530T>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.491T>C	6.37:g.160174530T>C	ENSP00000351141:p.Leu164Pro					WTAP_uc003qso.2_Missense_Mutation_p.L45P	p.L164P	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	713	+		Breast(66;0.000776)|Ovarian(120;0.0303)	164					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.491T>C	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004351	0.93287	.	.	ENSG00000146457	ENST00000358372	T	0.63580	-0.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.83361	0.0002	10	0.87932	D	0	0.4661	16.8222	0.85835	0.0:0.0:0.0:1.0	.	164;164	A8K489;Q15007	.;FL2D_HUMAN	P	164	ENSP00000351141:L164P	ENSP00000351141:L164P	L	+	2	0	WTAP	160094520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.018000	0.88722	2.371000	0.80710	0.533000	0.62120	CTT		0.438	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1		NM_152857		23	45	0	0	0	0.639603	0	23	45		
EVX1	2128	broad.mit.edu	37	7	27285709	27285709	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:27285709G>A	ENST00000496902.4	+	3	1375	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	EVX1_ENST00000535619.1_Missense_Mutation_p.A115T|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	297	Ala-rich.				embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CTCCGCCGCCGCCTCGCCCTT	0.776																																						uc003szd.1		NaN																	0				skin(1)	1						c.(889-891)GCC>ACC		even-skipped homeobox 1							4.0	6.0	5.0					7																	27285709		1686	3484	5170	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285709G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.889G>A	7.37:g.27285709G>A	ENSP00000419266:p.Ala297Thr					EVX1_uc011jzn.1_Missense_Mutation_p.A115T|EVX1_uc010kuy.1_3'UTR	p.A297T	NM_001989	NP_001980	P49640	EVX1_HUMAN			3	1375	+			297			Ala-rich.		A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.889G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160351	0.57368	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.93019	-3.01;-3.15	4.85	3.0	0.34707	.	0.000000	0.53938	D	0.000042	D	0.90222	0.6943	M	0.67953	2.075	0.45621	D	0.99855	B	0.34313	0.448	B	0.30316	0.114	D	0.89291	0.3619	10	0.39692	T	0.17	-16.3291	11.4583	0.50195	0.1357:0.0:0.8643:0.0	.	297	P49640	EVX1_HUMAN	T	297;115	ENSP00000419266:A297T;ENSP00000446458:A115T	ENSP00000419266:A297T	A	+	1	0	EVX1	27252234	0.956000	0.32656	1.000000	0.80357	0.105000	0.19272	0.549000	0.23329	2.223000	0.72356	0.462000	0.41574	GCC		0.776	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3				4	15	0	0	0	0.184627	0	4	15		
CASD1	64921	broad.mit.edu	37	7	94163033	94163033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:94163033C>T	ENST00000297273.4	+	7	834	c.547C>T	c.(547-549)Caa>Taa	p.Q183*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	183						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCGCTTTCTCAATATAAAAT	0.318																																						uc003uni.3		NaN																	0				ovary(2)	2						c.(547-549)CAA>TAA		CAS1 domain containing 1 precursor							76.0	77.0	76.0					7																	94163033		2203	4299	6502	SO:0001587	stop_gained	64921					integral to membrane		g.chr7:94163033C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.547C>T	7.37:g.94163033C>T	ENSP00000297273:p.Gln183*					CASD1_uc003unh.2_Nonsense_Mutation_p.Q183*|CASD1_uc003unj.3_Nonsense_Mutation_p.Q183*	p.Q183*	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	774	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		183					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Nonsense_Mutation	SNP	ENST00000297273.4	37	c.547C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	37	6.158373	0.97334	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.2565	0.93948	0.0:1.0:0.0:0.0	.	.	.	.	X	114;183	.	ENSP00000297273:Q183X	Q	+	1	0	CASD1	94000969	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	5.804000	0.69135	2.619000	0.88677	0.563000	0.77884	CAA		0.318	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1		NM_022900		14	55	0	0	0	0.520397	0	14	55		
RELN	5649	broad.mit.edu	37	7	103185777	103185777	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:103185777C>G	ENST00000428762.1	-	42	6476	c.6317G>C	c.(6316-6318)aGa>aCa	p.R2106T	RELN_ENST00000424685.2_Missense_Mutation_p.R2106T|RELN_ENST00000343529.5_Missense_Mutation_p.R2106T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2106					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGGTACCATCTGAAACGGAC	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6316-6318)AGA>ACA		reelin isoform a							52.0	47.0	49.0					7																	103185777		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103185777C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6317G>C	7.37:g.103185777C>G	ENSP00000392423:p.Arg2106Thr					RELN_uc010liz.2_Missense_Mutation_p.R2106T	p.R2106T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	42	6477	-			2106					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6317G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934151	0.92458	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.35421	1.31;1.31;1.31	5.89	5.89	0.94794	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.72894	2.215	0.58432	D	0.999994	D;D	0.71674	0.987;0.998	P;D	0.73380	0.807;0.98	T	0.63129	-0.6706	10	0.87932	D	0	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	2106;2106	P78509-2;P78509	.;RELN_HUMAN	T	2106	ENSP00000392423:R2106T;ENSP00000345694:R2106T;ENSP00000388446:R2106T	ENSP00000345694:R2106T	R	-	2	0	RELN	102973013	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.237000	0.78164	2.793000	0.96121	0.561000	0.74099	AGA		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		12	42	0	0	0	0.479597	0	12	42		
ZNF786	136051	broad.mit.edu	37	7	148768420	148768420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr7:148768420G>A	ENST00000491431.1	-	4	1508	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.Q445*|ZNF786_ENST00000316286.9_Nonsense_Mutation_p.Q396*	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGGGCACTGAAAGGGCTTC	0.652																																						uc003wfh.2		NaN																	0				breast(3)|skin(1)	4						c.(1444-1446)CAG>TAG		zinc finger protein 786							29.0	34.0	32.0					7																	148768420		2159	4278	6437	SO:0001587	stop_gained	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768420G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1444C>T	7.37:g.148768420G>A	ENSP00000417470:p.Gln482*					ZNF786_uc011kuk.1_Nonsense_Mutation_p.Q445*|ZNF786_uc003wfi.2_Nonsense_Mutation_p.Q396*	p.Q482*	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1581	-	Melanoma(164;0.15)		482			C2H2-type 7; degenerate.		A1A568|B4DMI1	Nonsense_Mutation	SNP	ENST00000491431.1	37	c.1444C>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686100	0.47991	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	.	.	.	4.5	2.69	0.31865	.	0.968843	0.08402	N	0.951218	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-12.7194	7.1702	0.25715	0.0:0.169:0.4825:0.3485	.	.	.	.	X	396;482;445	.	ENSP00000313516:Q396X	Q	-	1	0	ZNF786	148399353	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.217000	0.02979	0.536000	0.28733	0.655000	0.94253	CAG		0.652	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		3	21	0	0	0	0.150653	0	3	21		
SLC7A2	6542	broad.mit.edu	37	8	17422584	17422584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:17422584C>T	ENST00000494857.1	+	13	2124	c.1906C>T	c.(1906-1908)Caa>Taa	p.Q636*	SLC7A2_ENST00000398090.3_Nonsense_Mutation_p.Q675*|SLC7A2_ENST00000522656.1_Nonsense_Mutation_p.Q636*|SLC7A2_ENST00000470360.1_Nonsense_Mutation_p.Q675*|SLC7A2_ENST00000004531.10_Nonsense_Mutation_p.Q676*	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	636					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCTGCCATTCAAGCAAATGA	0.428																																						uc011kyc.1		NaN																	0				ovary(2)|skin(1)	3						c.(1906-1908)CAA>TAA		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						123.0	100.0	108.0					8																	17422584		2203	4300	6503	SO:0001587	stop_gained	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17422584C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1906C>T	8.37:g.17422584C>T	ENSP00000419140:p.Gln636*					SLC7A2_uc011kyd.1_Nonsense_Mutation_p.Q675*|SLC7A2_uc011kye.1_Nonsense_Mutation_p.Q676*|SLC7A2_uc011kyf.1_Nonsense_Mutation_p.Q636*	p.Q636*	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	12	2075	+			636			Cytoplasmic (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Nonsense_Mutation	SNP	ENST00000494857.1	37	c.1906C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498502	0.96355	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	.	.	.	5.51	4.58	0.56647	.	0.812980	0.11436	N	0.564306	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.1172	0.53872	0.0:0.7141:0.2859:0.0	.	.	.	.	X	636;636;675;676;675	.	ENSP00000004531:Q676X	Q	+	1	0	SLC7A2	17466858	0.987000	0.35691	0.130000	0.21974	0.687000	0.40016	2.373000	0.44266	2.753000	0.94483	0.650000	0.86243	CAA		0.428	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		NM_003046		7	28	0	0	0	0.307466	0	7	28		
TRIM35	23087	broad.mit.edu	37	8	27145409	27145409	+	Silent	SNP	G	G	A	rs143436239		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:27145409G>A	ENST00000305364.4	-	6	1223	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	380	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCTCAGCGCCCGAGTCCT	0.692																																						uc003xfl.1		NaN																	0					0						c.(1138-1140)GGC>GGT		tripartite motif-containing 35 isoform 2		G		0,4406		0,0,2203	37.0	31.0	33.0		1140	-3.0	0.0	8	dbSNP_134	33	2,8596		0,2,4297	no	coding-synonymous	TRIM35	NM_171982.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		380/494	27145409	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145409G>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1140C>T	8.37:g.27145409G>A						TRIM35_uc010lup.1_3'UTR	p.G380G	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1222	-		Ovarian(32;2.61e-05)	380			B30.2/SPRY.		Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.1140C>T	CCDS6056.2																																																																																				0.692	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2		NM_171982		14	27	0	0	0	0.500413	0	14	27		
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A	rs368283762	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr8:36766906G>A	ENST00000399881.3	+	21	2221	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P728P(5)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		16189	0.002		0.0	False		,,,				2504	0.0					uc010lvw.2		NaN																	5	Substitution - coding silent(5)		cervix(2)|lung(2)|prostate(1)	ovary(1)	1						c.(2182-2184)CCG>CCA		potassium channel, subfamily U, member 1							228.0	221.0	223.0					8																	36766906		1863	4108	5971	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766906G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2184G>A	8.37:g.36766906G>A						KCNU1_uc003xjw.2_RNA	p.P728P	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2271	+			728			Segment S9.|Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.2184G>A	CCDS55220.1																																																																																				0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		12	286	0	0	0	0.435327	0	12	286		
TOPORS	10210	broad.mit.edu	37	9	32543241	32543241	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:32543241A>C	ENST00000360538.2	-	3	1398	c.1282T>G	c.(1282-1284)Tca>Gca	p.S428A	TOPORS_ENST00000379858.1_Missense_Mutation_p.S363A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	428					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACCTGCTCTGAGCTTGAGTAA	0.453																																						uc003zrb.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1282-1284)TCA>GCA		topoisomerase I binding, arginine/serine-rich							136.0	133.0	134.0					9																	32543241		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543241A>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1282T>G	9.37:g.32543241A>C	ENSP00000353735:p.Ser428Ala					TOPORS_uc003zrc.2_Missense_Mutation_p.S361A	p.S428A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1449	-			428					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1282T>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	7.253	0.603659	0.14002	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.14893	2.47;2.48	5.07	3.91	0.45181	.	0.000000	0.38005	N	0.001845	T	0.07728	0.0194	N	0.08118	0	0.32919	D	0.515615	B	0.32302	0.363	B	0.31946	0.138	T	0.27739	-1.0065	10	0.14252	T	0.57	-12.1587	9.1761	0.37112	0.8379:0.0:0.0:0.1621	.	428	Q9NS56	TOPRS_HUMAN	A	428;363	ENSP00000353735:S428A;ENSP00000369187:S363A	ENSP00000353735:S428A	S	-	1	0	TOPORS	32533241	0.986000	0.35501	1.000000	0.80357	0.941000	0.58515	1.886000	0.39688	0.940000	0.37473	-0.351000	0.07748	TCA		0.453	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		77	27	0	0	0	0.870114	0	77	27		
COL27A1	85301	broad.mit.edu	37	9	117002529	117002529	+	Silent	SNP	C	C	T	rs558379555		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr9:117002529C>T	ENST00000356083.3	+	20	3148	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	919	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCCCCTGGCGACAATGGCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		19120	0.001		0.0	False		,,,				2504	0.0					uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(2755-2757)GGC>GGT		collagen, type XXVII, alpha 1 precursor							78.0	77.0	77.0					9																	117002529		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117002529C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2757C>T	9.37:g.117002529C>T						COL27A1_uc004bii.2_RNA	p.G919G	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			20	2757	+			919			Collagen-like 5.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2757C>T	CCDS6802.1																																																																																				0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		65	24	0	0	0	0.870114	0	65	24		
FANCB	2187	broad.mit.edu	37	X	14882865	14882865	+	Silent	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:14882865G>A	ENST00000324138.3	-	2	921	c.768C>T	c.(766-768)ctC>ctT	p.L256L	FANCB_ENST00000398334.1_Silent_p.L256L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	256					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAAGGGCAATGAGAGATATTC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NaN																	0				lung(1)	1						c.(766-768)CTC>CTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							90.0	84.0	86.0					X																	14882865		2203	4300	6503	SO:0001819	synonymous_variant	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14882865G>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.768C>T	X.37:g.14882865G>A						FANCB_uc004cwh.1_Silent_p.L256L	p.L256L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			3	1036	-	Hepatocellular(33;0.183)		256					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.768C>T	CCDS14161.1																																																																																				0.373	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1		NM_152633		4	50	0	0	0	0.150653	0	4	50		
NXF3	56000	broad.mit.edu	37	X	102334549	102334549	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:102334549G>C	ENST00000395065.3	-	14	1283	c.1182C>G	c.(1180-1182)ttC>ttG	p.F394L	NXF3_ENST00000425644.1_Missense_Mutation_p.F66L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	394	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTATCCTTGAAGAACTTGC	0.507																																						uc004eju.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1180-1182)TTC>TTG		nuclear RNA export factor 3							81.0	85.0	84.0					X																	102334549		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334549G>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1182C>G	X.37:g.102334549G>C	ENSP00000378504:p.Phe394Leu					NXF3_uc010noi.1_Missense_Mutation_p.F244L	p.F394L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			14	1253	-			394			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1182C>G	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.994|9.994	1.231528|1.231528	0.22626|0.22626	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065;ENST00000425644|ENST00000427570	T;T|.	0.37058|.	1.22;1.22|.	4.41|4.41	2.53|2.53	0.30540|0.30540	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);|.	0.588839|.	0.18704|.	N|.	0.133489|.	T|T	0.47875|0.47875	0.1469|0.1469	N|N	0.25094|0.25094	0.71|0.71	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.09377|.	0.004;0.002|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.07990|.	T|.	0.79|.	-0.759|-0.759	12.055|12.055	0.53529|0.53529	0.0:0.3207:0.6793:0.0|0.0:0.3207:0.6793:0.0	.|.	290;394|.	E9PEY7;Q9H4D5|.	.;NXF3_HUMAN|.	L|E	394;66|271	ENSP00000378504:F394L;ENSP00000401026:F66L|.	ENSP00000378504:F394L|.	F|Q	-|-	3|1	2|0	NXF3|NXF3	102221205|102221205	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	1.666000|1.666000	0.37460|0.37460	0.363000|0.363000	0.24346|0.24346	0.585000|0.585000	0.79938|0.79938	TTC|CAA		0.507	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1		NM_022052		17	89	0	0	0	0.624587	0	17	89		
GUCY2F	2986	broad.mit.edu	37	X	108628509	108628509	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:108628509G>A	ENST00000218006.2	-	16	3250	c.2959C>T	c.(2959-2961)Ccg>Tcg	p.P987S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	987	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAACAACCGGCCCTATAGAG	0.473																																						uc004eod.3		NaN																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(2959-2961)CCG>TCG		guanylate cyclase 2F precursor							73.0	60.0	64.0					X																	108628509		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108628509G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2959C>T	X.37:g.108628509G>A	ENSP00000218006:p.Pro987Ser					GUCY2F_uc011msq.1_RNA	p.P987S	NM_001522	NP_001513	P51841	GUC2F_HUMAN			16	3235	-			987			Guanylate cyclase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2959C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773445	0.49786	.	.	ENSG00000101890	ENST00000218006	D	0.85411	-1.98	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	L	0.53617	1.68	0.51233	D	0.999917	D	0.60160	0.987	P	0.55161	0.77	D	0.86171	0.1600	10	0.39692	T	0.17	.	13.4909	0.61395	0.0:0.0:1.0:0.0	.	987	P51841	GUC2F_HUMAN	S	987	ENSP00000218006:P987S	ENSP00000218006:P987S	P	-	1	0	GUCY2F	108515165	1.000000	0.71417	0.977000	0.42913	0.520000	0.34377	5.098000	0.64548	2.350000	0.79820	0.600000	0.82982	CCG		0.473	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1		NM_001522		51	18	0	0	0	0.870114	0	51	18		
RPL10	6134	broad.mit.edu	37	X	153627864	153627864	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chrX:153627864A>G	ENST00000369817.2	+	5	695	c.119A>G	c.(118-120)aAg>aGg	p.K40R	RPL10_ENST00000424325.2_Missense_Mutation_p.K40R|RPL10_ENST00000406022.2_5'UTR|SNORA70_ENST00000384436.1_RNA			P27635	RL10_HUMAN	ribosomal protein L10	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCGGAAAAAGGCAAAAGTG	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004fkm.2		NaN																	0					0						c.(118-120)AAG>AGG		ribosomal protein L10							136.0	131.0	133.0					X																	153627864		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627864A>G	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.119A>G	X.37:g.153627864A>G	ENSP00000358832:p.Lys40Arg		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.K40R|RPL10_uc004fkn.1_Missense_Mutation_p.K40R|RPL10_uc004fkp.1_Missense_Mutation_p.K40R|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	p.K40R	NM_006013	NP_006004	P27635	RL10_HUMAN			4	307	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		40					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.119A>G	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509128	0.64410	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000451365	T;T;T	0.73575	-0.76;-0.76;-0.76	5.07	5.07	0.68467	Ribosomal protein L10e/L16 (2);	0.000000	0.64402	U	0.000001	T	0.73552	0.3601	L	0.53617	1.68	0.80722	D	1	B;B	0.21606	0.017;0.058	B;B	0.37239	0.243;0.244	T	0.69647	-0.5089	10	0.33940	T	0.23	-14.11	11.7705	0.51956	1.0:0.0:0.0:0.0	.	40;40	A6QRI9;P27635	.;RL10_HUMAN	R	40;40;40;40;40;23	ENSP00000358832:K40R;ENSP00000413436:K40R;ENSP00000341730:K40R	ENSP00000341730:K40R	K	+	2	0	RPL10	153281058	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.629000	0.90983	1.680000	0.50976	0.486000	0.48141	AAG		0.522	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5		NM_006013		3	116	0	0	0	0.217242	0	3	116		
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P549fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P166fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	549					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y551fs*72(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Insertion - Frameshift(1)	p.Y551fs*72(1)|p.Q548*(1)	ovary(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1642-1647)CAGCCCfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057936_27057937insC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1650dupC	1.37:g.27057942_27057942dupC	ENSP00000320485:p.Pro549fs					ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q165fs	p.Q548fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2017_2018	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	548_549					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.1644_1645insC	CCDS285.1																																																																																				0.649	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		155	276	NaN	NaN	NaN	NaN	NaN	155	276	---	---
RUFY2	55680	broad.mit.edu	37	10	70166569	70166570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70166569_70166570insA	ENST00000388768.2	-	1	376_377	c.50_51insT	c.(49-51)ttgfs	p.L17fs	RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Intron|RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Intron	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	0						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCACCCAGGCCAAAACCTGAGA	0.708																																						uc001job.2		NaN																	0				ovary(1)	1						c.(49-51)TTGfs		RUN and FYVE domain-containing 2 isoform a																																				SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70166569_70166570insA	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000388768.2:c.51dupT	10.37:g.70166573_70166573dupA	ENSP00000373420:p.Leu17fs					RUFY2_uc001jnz.1_Intron|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Intron|RUFY2_uc009xpv.1_Intron|RUFY2_uc001joe.1_Intron	p.L17fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			1	377_378	-			Error:Variant_position_missing_in_Q8WXA3_after_alignment					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Ins	INS	ENST00000388768.2	37	c.50_51insT	CCDS41534.1																																																																																				0.708	RUFY2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_017987		31	54	NaN	NaN	NaN	NaN	NaN	31	54	---	---
CCAR1	55749	broad.mit.edu	37	10	70531073	70531074	+	Frame_Shift_Ins	INS	-	-	A	rs3205757		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr10:70531073_70531074insA	ENST00000265872.6	+	18	2528_2529	c.2409_2410insA	c.(2410-2412)aaafs	p.K804fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.K789fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.K789fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	804	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						aagaaaaggataaaaaaagcaa	0.337																																						uc001joo.2		NaN																	0				ovary(6)|large_intestine(1)	7						c.(2407-2412)GATAAAfs		cell-cycle and apoptosis regulatory protein 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70531073_70531074insA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2416dupA	10.37:g.70531080_70531080dupA	ENSP00000265872:p.Lys804fs					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Ins_p.D608fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.D777fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.D749fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.D788fs|CCAR1_uc010qjb.1_RNA	p.D803fs	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			18	2528_2529	+			803_804			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Ins	INS	ENST00000265872.6	37	c.2409_2410insA	CCDS7282.1																																																																																				0.337	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2		NM_018237		9	26	NaN	NaN	NaN	NaN	NaN	9	26	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						uc002dva.1		NaN																	0				ovary(1)	1						c.(2905-2907)CTGdel		TAO kinase 2 isoform 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_In_Frame_Del_p.L981del|TAOK2_uc002dvd.1_In_Frame_Del_p.L801del	p.L974del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3688_3690	+			974			Leu-rich.|Helical; (Potential).		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		7	110	NaN	NaN	NaN	NaN	NaN	7	110	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					uc010xfl.1		NaN																	2	Insertion - In frame(2)		upper_aerodigestive_tract(2)		0						c.(22-27)insGGC		potassium voltage-gated channel, subfamily G,																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.13_14insG	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	13_14			Cytoplasmic (Potential).			In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1		NM_012283		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	T	-	rs554506484		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr3:109049606delT	ENST00000335658.6	-	5	498	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	148					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413																																						uc003dxq.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(442-444)AAAfs		developmental pluripotency associated 4							67.0	71.0	70.0					3																	109049606		2203	4300	6503	SO:0001589	frameshift_variant	55211					nucleus	protein binding	g.chr3:109049606delT	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.444delA	3.37:g.109049606delT	ENSP00000335306:p.Lys148fs					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	499	-			148					A8K4M7|Q9H9N5|Q9NVI6	Frame_Shift_Del	DEL	ENST00000335658.6	37	c.444delA	CCDS33814.1																																																																																				0.413	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1		NM_018189		7	163	NaN	NaN	NaN	NaN	NaN	7	163	---	---
RREB1	6239	broad.mit.edu	37	6	7229719	7229725	+	Frame_Shift_Del	DEL	TCGGCCA	TCGGCCA	-	rs147038452		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:7229719_7229725delTCGGCCA	ENST00000349384.6	+	10	1701_1707	c.1387_1393delTCGGCCA	c.(1387-1395)tcggccatcfs	p.SAI463fs	RREB1_ENST00000379933.3_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000379938.2_Frame_Shift_Del_p.SAI463fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.SAI463fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	463					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGGCGAGTCGGCCATCGAGCTGGC	0.599																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1387-1395)TCGGCCATCfs		ras responsive element binding protein 1 isoform																																				SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229719_7229725delTCGGCCA	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1387_1393delTCGGCCA	6.37:g.7229719_7229725delTCGGCCA	ENSP00000305560:p.Ser463fs					RREB1_uc003mxb.2_Frame_Shift_Del_p.S463fs|RREB1_uc010jnx.2_Frame_Shift_Del_p.S463fs	p.S463fs	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1777_1783	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	463_465					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	37	c.1387_1393delTCGGCCA	CCDS34336.1																																																																																				0.599	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				103	50	NaN	NaN	NaN	NaN	NaN	103	50	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652057	36652058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:36652057_36652058insG	ENST00000405375.1	+	2	414_415	c.179_180insG	c.(178-183)gagggtfs	p.EG60fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.EG60fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.EG94fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.EG60fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	60					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ACACCACTGGAGGGTGACTTCG	0.668																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(178-180)GAGfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652057_36652058insG	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.182dupG	6.37:g.36652060_36652060dupG	ENSP00000384849:p.Glu60fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E94fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E60fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E60fs	p.E60fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	301_302	+			60					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.179_180insG	CCDS4824.1																																																																																				0.668	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		34	29	NaN	NaN	NaN	NaN	NaN	34	29	---	---
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-	rs375455161		TCGA-GD-A3OQ-01A-32D-A21Z-08	TCGA-GD-A3OQ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb985b3d-b0f7-42a0-bc3c-f71d9c5f78d8	685111bf-0f7f-4b95-acdd-5704a8a553c5	g.chr6:41303645_41303647delCTG	ENST00000373089.5	+	1	119_121	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373083.4_In_Frame_Del_p.L15del	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635																																						uc003oqh.2		NaN																	0				ovary(1)	1						c.(31-33)CTGdel		natural cytotoxicity triggering receptor 2			,,	48,4200		1,46,2077					,,	-2.6	0.0			40	118,8096		0,118,3989	no	coding,coding,coding	NCR2	NM_004828.3,NM_001199510.1,NM_001199509.1	,,	1,164,6066	A1A1,A1R,RR		1.4366,1.1299,1.332	,,	,,		166,12296				SO:0001651	inframe_deletion	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41303645_41303647delCTG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.31_33delCTG	6.37:g.41303654_41303656delCTG	ENSP00000362181:p.Leu15del					NCR2_uc003oqi.2_In_Frame_Del_p.L15del|NCR2_uc003oqj.2_In_Frame_Del_p.L15del	p.L15del	NM_004828	NP_004819	O95944	NCTR2_HUMAN			1	118_120	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		15					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	In_Frame_Del	DEL	ENST00000373089.5	37	c.31_33delCTG	CCDS4855.1																																																																																				0.635	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3				4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
