#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_refseq_mrna_id	i_secondary_variant_classification
PHACTR4	65979	broad.mit.edu	37	1	28800112	28800112	+	Silent	SNP	G	G	A	rs201982408	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:28800112G>A	ENST00000373839.3	+	7	1131	c.870G>A	c.(868-870)ccG>ccA	p.P290P	PHACTR4_ENST00000373836.3_Silent_p.P300P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	290	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAAACCGTCCCCACCCT	0.463																																						uc001bpy.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(898-900)ccG>ccA		Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.		G	,	0,4088		0,0,2044	159.0	153.0	155.0		870,900	-0.8	1.0	1		155	3,8387		0,3,4192	no	coding-synonymous,coding-synonymous	PHACTR4	NM_001048183.1,NM_023923.3	,	0,3,6236	AA,AG,GG		0.0358,0.0,0.024	,	290/703,300/713	28800112	3,12475	2044	4195	6239	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800112G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.870G>A	1.37:g.28800112G>A						PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P	p.P300P	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	5	1135	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	290			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.900G>A	CCDS41293.1																																																																																				0.463	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
C1orf141	400757	broad.mit.edu	37	1	67561965	67561965	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:67561965A>G	ENST00000371007.2	-	6	495	c.386T>C	c.(385-387)gTt>gCt	p.V129A	C1orf141_ENST00000544837.1_Missense_Mutation_p.V129A|C1orf141_ENST00000371006.1_Missense_Mutation_p.V129A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	129										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAAGAGACCAACAGAATCCAA	0.259																																						uc001ddl.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(385-387)gTt>gCt		Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.							30.0	32.0	32.0					1																	67561965		2166	4268	6434	SO:0001583	missense	400757							g.chr1:67561965A>G	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.386T>C	1.37:g.67561965A>G	ENSP00000360046:p.Val129Ala					C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript	p.V129A	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			4	497	-			129					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.386T>C	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	A	3.558	-0.090278	0.07053	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837;ENST00000371005;ENST00000448166	T;T;T	0.28069	1.63;1.63;1.63	3.95	-2.4	0.06583	.	4.406720	0.00725	N	0.000917	T	0.04272	0.0118	N	0.12182	0.205	0.09310	N	1	B	0.17268	0.021	B	0.12837	0.008	T	0.15665	-1.0429	10	0.14656	T	0.56	3.8079	4.361	0.11203	0.3595:0.0:0.4548:0.1857	.	129	Q5JVX7	CA141_HUMAN	A	129;129;129;200;200	ENSP00000360046:V129A;ENSP00000360045:V129A;ENSP00000444018:V129A	ENSP00000360044:V200A	V	-	2	0	C1orf141	67334553	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.201000	0.17276	-0.489000	0.06716	0.459000	0.35465	GTT		0.259	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
WDR63	126820	broad.mit.edu	37	1	85551548	85551548	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:85551548T>A	ENST00000294664.6	+	7	755	c.575T>A	c.(574-576)tTt>tAt	p.F192Y	WDR63_ENST00000326813.8_Missense_Mutation_p.F192Y|WDR63_ENST00000370596.1_Missense_Mutation_p.F192Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGAAGTGAATTTGGTGCACCA	0.353																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(574-576)tTt>tAt		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							107.0	99.0	102.0					1																	85551548		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85551548T>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.575T>A	1.37:g.85551548T>A	ENSP00000294664:p.Phe192Tyr					WDR63_uc009wcl.3_Missense_Mutation_p.F192Y	p.F192Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	6	766	+			192					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.575T>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700583	0.88924	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.59224	0.41;0.41;0.28	5.71	5.71	0.89125	.	0.098090	0.64402	D	0.000001	T	0.70211	0.3198	M	0.73962	2.25	0.52099	D	0.999946	D;D	0.89917	1.0;0.995	D;P	0.81914	0.995;0.788	T	0.73026	-0.4112	10	0.51188	T	0.08	-9.7786	15.9833	0.80130	0.0:0.0:0.0:1.0	.	192;192	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Y	192	ENSP00000359628:F192Y;ENSP00000317463:F192Y;ENSP00000294664:F192Y	ENSP00000294664:F192Y	F	+	2	0	WDR63	85324136	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.757000	0.62213	2.177000	0.69029	0.482000	0.46254	TTT		0.353	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
PGLYRP4	57115	broad.mit.edu	37	1	153313050	153313050	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:153313050G>C	ENST00000359650.5	-	7	695	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.P207A	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	211					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAACGCCGGGGCAAGCTGAG	0.587																																						uc001fbo.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(631-633)Ccc>Gcc		Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.							42.0	41.0	41.0					1																	153313050		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153313050G>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.631C>G	1.37:g.153313050G>C	ENSP00000352672:p.Pro211Ala					PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A	p.P211A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	696	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		211					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.631C>G	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351152	0.24512	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.50813	0.73;0.73	3.64	2.72	0.32119	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (5);	0.222920	0.30028	N	0.010596	T	0.47948	0.1473	M	0.83603	2.65	0.29077	N	0.882948	D;D	0.89917	1.0;1.0	D;D	0.73380	0.965;0.98	T	0.38802	-0.9644	10	0.16420	T	0.52	-14.2758	7.0428	0.25029	0.1288:0.0:0.8712:0.0	.	207;211	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	A	207;211	ENSP00000357728:P207A;ENSP00000352672:P211A	ENSP00000352672:P211A	P	-	1	0	PGLYRP4	151579674	0.993000	0.37304	0.593000	0.28771	0.062000	0.15995	2.033000	0.41136	0.836000	0.34901	0.655000	0.94253	CCC		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
KIFAP3	22920	broad.mit.edu	37	1	169951166	169951166	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:169951166G>A	ENST00000361580.2	-	15	1972	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	KIFAP3_ENST00000367765.1_Missense_Mutation_p.A542V|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A538V|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A504V|KIFAP3_ENST00000540905.1_Missense_Mutation_p.A284V	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	582					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.A582V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCAATGCAGCACAAGAGTC	0.343																																						uc001ggv.3																			1	Substitution - Missense(1)	p.A582V(2)	endometrium(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1744-1746)gCt>gTt		Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.							120.0	110.0	113.0					1																	169951166		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951166G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1745C>T	1.37:g.169951166G>A	ENSP00000354560:p.Ala582Val					KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V	p.A582V	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN			14	2016	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		582					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1745C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884262	0.91814	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.66	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74615	-0.3606	9	.	.	.	-17.821	14.3683	0.66820	0.0718:0.0:0.9282:0.0	.	582	Q92845	KIFA3_HUMAN	V	582;542;538;284;504	ENSP00000354560:A582V;ENSP00000356739:A542V;ENSP00000356741:A538V;ENSP00000442712:A284V;ENSP00000444622:A504V	.	A	-	2	0	KIFAP3	168217790	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.246000	0.72405	1.526000	0.49068	0.585000	0.79938	GCT		0.343	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
ANKRD26	22852	broad.mit.edu	37	10	27350076	27350076	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:27350076T>C	ENST00000376087.4	-	13	1624	c.1459A>G	c.(1459-1461)Atg>Gtg	p.M487V	ANKRD26_ENST00000436985.2_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	487					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCATACCCATGTGGGCTACT	0.348																																						uc009xku.1																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1459-1461)Atg>Gtg		Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.							175.0	170.0	172.0					10																	27350076		1853	4099	5952	SO:0001583	missense	22852					centrosome		g.chr10:27350076T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1459A>G	10.37:g.27350076T>C	ENSP00000365255:p.Met487Val					ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V	p.M487V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			12	1631	-			487					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1459A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688764	0.29962	.	.	ENSG00000107890	ENST00000376087	T	0.30448	1.53	4.77	-0.696	0.11287	.	.	.	.	.	T	0.18045	0.0433	L	0.47716	1.5	0.22581	N	0.998965	B;B	0.25312	0.123;0.075	B;B	0.18871	0.023;0.01	T	0.35699	-0.9778	9	0.02654	T	1	.	5.3836	0.16206	0.0:0.1676:0.2776:0.5548	.	487;487	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	V	487	ENSP00000365255:M487V	ENSP00000365255:M487V	M	-	1	0	ANKRD26	27390082	0.971000	0.33674	0.567000	0.28434	0.988000	0.76386	-0.160000	0.10041	-0.043000	0.13513	0.383000	0.25322	ATG		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
MPP7	143098	broad.mit.edu	37	10	28409253	28409254	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:28409253_28409254CA>AG	ENST00000375732.1	-	10	1015_1016	c.756_757TG>CT	c.(754-759)gcTGgg>gcCTgg	p.G253W	MPP7_ENST00000375719.3_Missense_Mutation_p.G253W|MPP7_ENST00000540098.1_Missense_Mutation_p.G253W|MPP7_ENST00000337532.5_Missense_Mutation_p.G253W|MPP7_ENST00000445954.2_Missense_Mutation_p.G128W			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	253	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAGAAAGCCCAGCTTCCTTAC	0.406																																						uc001iua.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(754-759)gctggg>gcCTgg		Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.																																				SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28409253_28409254CA>AG	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.756_757delinsAG	10.37:g.28409253_28409254delinsAG	ENSP00000364884:p.Gly253Trp					MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript	p.G253W	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			11	1160_1161	-			253			SH3.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	DNP	ENST00000375732.1	37	c.756_757TG>CT	CCDS7158.1																																																																																				0.406	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
BMS1	9790	broad.mit.edu	37	10	43316067	43316067	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:43316067G>C	ENST00000374518.5	+	17	2944	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	961					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTATATCGAAGACCACAATGG	0.428																																						uc001jaj.3																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2881-2883)Gac>Cac		Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.							53.0	55.0	54.0					10																	43316067		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316067G>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2881G>C	10.37:g.43316067G>C	ENSP00000363642:p.Asp961His						p.D961H	NM_014753	NP_055568	Q14692	BMS1_HUMAN			16	3239	+			961					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2881G>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371577	0.82573	.	.	ENSG00000165733	ENST00000374518	T	0.17691	2.26	4.97	4.97	0.65823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66622	-0.5877	10	0.72032	D	0.01	.	18.6504	0.91429	0.0:0.0:1.0:0.0	.	961	Q14692	BMS1_HUMAN	H	961	ENSP00000363642:D961H	ENSP00000363642:D961H	D	+	1	0	BMS1	42636073	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.344000	0.97050	2.470000	0.83445	0.454000	0.30748	GAC		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
BICC1	80114	broad.mit.edu	37	10	60553292	60553292	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:60553292G>A	ENST00000373886.3	+	9	1100	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I	BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	366					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAATTGAAGTAGATCCACA	0.368																																						uc001jki.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1096-1098)Gta>Ata		Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.							161.0	147.0	152.0					10																	60553292		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60553292G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1096G>A	10.37:g.60553292G>A	ENSP00000362993:p.Val366Ile					BICC1_uc001jkj.1_Missense_Mutation_p.V7I	p.V366I	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			8	1096	+			366						Missense_Mutation	SNP	ENST00000373886.3	37	c.1096G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085779	0.55861	.	.	ENSG00000122870	ENST00000373886	T	0.31510	1.49	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.62723	1.935	0.80722	D	1	B;P	0.38020	0.007;0.615	B;B	0.29267	0.004;0.1	T	0.08534	-1.0717	10	0.23891	T	0.37	-15.7472	19.9664	0.97271	0.0:0.0:1.0:0.0	.	286;366	E7EU62;Q9H694	.;BICC1_HUMAN	I	366	ENSP00000362993:V366I	ENSP00000362993:V366I	V	+	1	0	BICC1	60223298	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.668000	0.74457	2.718000	0.92993	0.655000	0.94253	GTA		0.368	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
OR5L1	219437	broad.mit.edu	37	11	55579759	55579759	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:55579759G>T	ENST00000333973.2	+	1	906	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGACAAAGTGGCCACCGT	0.473																																						uc001nhw.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(817-819)Gtg>Ttg		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							87.0	78.0	81.0					11																	55579759		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579759G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.817G>T	11.37:g.55579759G>T	ENSP00000335529:p.Val273Leu						p.V273L	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			0	817	+		all_epithelial(135;0.208)	273					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.817G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.571051	0.65765	.	.	ENSG00000186117	ENST00000333973	T	0.00249	8.44	4.12	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.00210	0.0006	L	0.33792	1.035	0.09310	N	1	P	0.50272	0.933	P	0.53102	0.718	T	0.48811	-0.9002	10	0.56958	D	0.05	-27.017	2.7871	0.05377	0.3164:0.0:0.4796:0.2039	.	273	Q8NGL2	OR5L1_HUMAN	L	273	ENSP00000335529:V273L	ENSP00000335529:V273L	V	+	1	0	OR5L1	55336335	0.000000	0.05858	0.015000	0.15790	0.575000	0.36095	-0.594000	0.05733	0.740000	0.32651	0.428000	0.28381	GTG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR5B12	390191	broad.mit.edu	37	11	58207194	58207194	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:58207194A>G	ENST00000302572.2	-	1	452	c.431T>C	c.(430-432)aTa>aCa	p.I144T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGAGCCTATGGCCAGGCA	0.463																																						uc010rkh.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(430-432)aTa>aCa		Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.							136.0	129.0	132.0					11																	58207194		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207194A>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.431T>C	11.37:g.58207194A>G	ENSP00000306657:p.Ile144Thr						p.I144T	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			0	453	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	144					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.431T>C	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	0.119	-1.128334	0.01770	.	.	ENSG00000172362	ENST00000302572	T	0.37915	1.17	4.44	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.469224	0.19689	N	0.108340	T	0.18759	0.0450	N	0.12887	0.27	0.09310	N	1	B	0.10296	0.003	B	0.21360	0.034	T	0.19943	-1.0290	10	0.28530	T	0.3	-9.6219	7.7287	0.28775	0.6566:0.0:0.3434:0.0	.	144	Q96R08	OR5BC_HUMAN	T	144	ENSP00000306657:I144T	ENSP00000306657:I144T	I	-	2	0	OR5B12	57963770	0.000000	0.05858	0.002000	0.10522	0.095000	0.18619	-0.046000	0.11983	0.338000	0.23692	0.379000	0.24179	ATA		0.463	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
IGHMBP2	3508	broad.mit.edu	37	11	68704092	68704092	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:68704092G>A	ENST00000255078.3	+	13	2255	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	715	SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAACGGAGGCAGCCCAGAG	0.617																																						uc001ook.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2143-2145)gGc>gAc		Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.							32.0	34.0	33.0					11																	68704092		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68704092G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2144G>A	11.37:g.68704092G>A	ENSP00000255078:p.Gly715Asp					IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	p.G715D	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		12	2246	+			715					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2144G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	2.103	-0.405714	0.04832	.	.	ENSG00000132740	ENST00000255078	D	0.89343	-2.5	3.83	2.62	0.31277	Single-stranded nucleic acid binding R3H (1);	3.467030	0.00447	N	0.000081	D	0.85961	0.5819	L	0.56769	1.78	0.30110	N	0.806652	B	0.06786	0.001	B	0.04013	0.001	T	0.65421	-0.6172	10	0.10636	T	0.68	-25.0199	6.669	0.23058	0.1897:0.0:0.8103:0.0	.	715	P38935	SMBP2_HUMAN	D	715	ENSP00000255078:G715D	ENSP00000255078:G715D	G	+	2	0	IGHMBP2	68460668	0.000000	0.05858	0.017000	0.16124	0.110000	0.19582	-0.145000	0.10265	0.663000	0.31027	0.561000	0.74099	GGC		0.617	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
TMEM133	83935	broad.mit.edu	37	11	100863381	100863381	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:100863381G>T	ENST00000303130.2	+	1	571	c.342G>T	c.(340-342)gtG>gtT	p.V114V		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	114						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTCAAAATGTGCCAGTTCCAC	0.373																																						uc001pgf.3																			0				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(340-342)gtG>gtT		Homo sapiens transmembrane protein 133 (TMEM133), mRNA.							147.0	141.0	143.0					11																	100863381		2203	4300	6503	SO:0001819	synonymous_variant	83935					integral to membrane		g.chr11:100863381G>T	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.342G>T	11.37:g.100863381G>T							p.V114V	NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	0	571	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	114						Silent	SNP	ENST00000303130.2	37	c.342G>T	CCDS8309.1																																																																																				0.373	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021	
TAS2R9	50835	broad.mit.edu	37	12	10962585	10962585	+	Silent	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:10962585A>T	ENST00000240691.2	-	1	182	c.90T>A	c.(88-90)gtT>gtA	p.V30V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	30					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGCAGTTAACTAGTACAA	0.388																																						uc001qyx.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(88-90)gtT>gtA		Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.							89.0	86.0	87.0					12																	10962585		2203	4300	6503	SO:0001819	synonymous_variant	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962585A>T	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.90T>A	12.37:g.10962585A>T							p.V30V	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN			0	183	-			30					Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	c.90T>A	CCDS8633.1																																																																																				0.388	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1		
BIN2	51411	broad.mit.edu	37	12	51685543	51685543	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:51685543C>T	ENST00000267012.4	-	10	1408	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	BIN2_ENST00000604560.1_Silent_p.R422R|BIN2_ENST00000452142.2_Silent_p.R417R|BIN2_ENST00000544402.1_Silent_p.R423R	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	449	Pro-rich.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAAGGAGGCCCTAGGGCTGG	0.612																																						uc001ryg.3																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(1345-1347)agG>agA		Homo sapiens bridging integrator 2 (BIN2), mRNA.							29.0	33.0	32.0					12																	51685543		2203	4300	6503	SO:0001819	synonymous_variant	51411					cytoplasm	protein binding	g.chr12:51685543C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1347G>A	12.37:g.51685543C>T						BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R	p.R449R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			9	1399	-			449			Pro-rich.		Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	c.1347G>A	CCDS8811.1																																																																																				0.612	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		
R3HDM2	22864	broad.mit.edu	37	12	57648757	57648757	+	Silent	SNP	A	A	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:57648757A>C	ENST00000347140.3	-	24	3120	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	R3HDM2_ENST00000358907.2_Silent_p.G910G|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000402412.1_Silent_p.G924G|R3HDM2_ENST00000403821.2_Silent_p.G944G|RP11-123K3.4_ENST00000548184.1_Intron|R3HDM2_ENST00000441731.2_Silent_p.G605G			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	910	Poly-Gly.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(2728-2730)ggT>ggG		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.							51.0	48.0	49.0					12																	57648757		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57648757A>C	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2730T>G	12.37:g.57648757A>C						R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G	p.G910G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			21	2765	-			910			Poly-Gly.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.2730T>G	CCDS8937.2																																																																																				0.632	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
IRAK3	11213	broad.mit.edu	37	12	66638935	66638935	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:66638935C>A	ENST00000261233.4	+	11	1628	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	IRAK3_ENST00000457197.2_Missense_Mutation_p.L342I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCTCTCATTTCTAGATAAGAA	0.478																																						uc001sth.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1207-1209)Cta>Ata		Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.							86.0	88.0	87.0					12																	66638935		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638935C>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1207C>A	12.37:g.66638935C>A	ENSP00000261233:p.Leu403Ile					IRAK3_uc010ssy.2_Missense_Mutation_p.L342I	p.L403I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1309	+			403			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1207C>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434485	0.43224	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.66099	-0.19;-0.19	5.89	-3.59	0.04583	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088939	0.46758	D	0.000270	T	0.51669	0.1688	L	0.48642	1.525	0.25525	N	0.987337	P;P	0.52692	0.944;0.955	P;P	0.47827	0.519;0.558	T	0.53585	-0.8418	9	.	.	.	-6.729	7.57	0.27902	0.0:0.3009:0.1237:0.5754	.	342;403	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	403;342	ENSP00000261233:L403I;ENSP00000409852:L342I	.	L	+	1	2	IRAK3	64925202	0.019000	0.18553	0.178000	0.23040	0.297000	0.27493	-0.688000	0.05150	-0.458000	0.07023	-0.291000	0.09656	CTA		0.478	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
ATP11A	23250	broad.mit.edu	37	13	113510350	113510350	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr13:113510350G>A	ENST00000487903.1	+	20	2457	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	ATP11A_ENST00000375645.3_Missense_Mutation_p.S790N|ATP11A_ENST00000283558.8_Missense_Mutation_p.S790N|ATP11A_ENST00000375630.2_Missense_Mutation_p.S790N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	790					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTGCCGGAGCTGCAGCGCG	0.597																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2368-2370)aGc>aAc		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							74.0	82.0	79.0					13																	113510350		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113510350G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2369G>A	13.37:g.113510350G>A	ENSP00000420387:p.Ser790Asn					ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript	p.S790N	NM_032189	NP_115565	P98196	AT11A_HUMAN			19	2457	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	790					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2369G>A	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.036|7.036	0.561504|0.561504	0.13498|0.13498	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93	5.39|5.39	4.22|4.22	0.49857|0.49857	.|HAD-like domain (1);	.|0.041017	.|0.85682	.|N	.|0.000000	T|T	0.59224|0.59224	0.2178|0.2178	N|N	0.01009|0.01009	-1.055|-1.055	0.30491|0.30491	N|N	0.771408|0.771408	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.001	T|T	0.53457|0.53457	-0.8436|-0.8436	5|10	.|0.10636	.|T	.|0.68	.|.	10.4481|10.4481	0.44505|0.44505	0.9221:0.0:0.0779:0.0|0.9221:0.0:0.0779:0.0	.|.	.|790;790;790	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|N	765|790;790;790;790;231	.|ENSP00000420387:S790N;ENSP00000364781:S790N;ENSP00000364796:S790N;ENSP00000283558:S790N	.|ENSP00000283558:S790N	A|S	+|+	1|2	0|0	ATP11A|ATP11A	112558351|112558351	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.849000|0.849000	0.48306|0.48306	6.788000|6.788000	0.75105|0.75105	0.896000|0.896000	0.36366|0.36366	-0.367000|-0.367000	0.07326|0.07326	GCT|AGC		0.597	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
DCAF11	80344	broad.mit.edu	37	14	24588926	24588926	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr14:24588926T>C	ENST00000446197.3	+	11	1640	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	DCAF11_ENST00000559115.1_Missense_Mutation_p.S305P|DCAF11_ENST00000396936.1_Missense_Mutation_p.S205P|DCAF11_ENST00000396941.4_Missense_Mutation_p.S279P|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											CTAGATTGAGTCCCATGAGGA	0.483																																						uc001wlv.3																			0											c.(913-915)Tcc>Ccc		Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.							109.0	100.0	103.0					14																	24588926		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588926T>C	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.913T>C	14.37:g.24588926T>C	ENSP00000415556:p.Ser305Pro					DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P	p.S305P	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN			10	1193	+			305					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.913T>C	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.529164	0.85706	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.60548	0.18;0.18	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052027	0.85682	D	0.000000	T	0.65238	0.2672	L	0.39467	1.215	0.80722	D	1	P;D;B;P;D	0.60575	0.845;0.985;0.429;0.899;0.988	P;P;B;P;P	0.59357	0.566;0.775;0.318;0.772;0.856	T	0.68202	-0.5471	10	0.87932	D	0	-2.0889	14.4025	0.67056	0.0:0.0:0.0:1.0	.	228;279;205;305;305	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	P	305;279;205;279	ENSP00000380142:S205P;ENSP00000380146:S279P	ENSP00000323680:S305P	S	+	1	0	DCAF11	23658766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.303000	0.65738	2.288000	0.76882	0.533000	0.62120	TCC		0.483	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		
GRAMD2	196996	broad.mit.edu	37	15	72460907	72460907	+	Splice_Site	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:72460907T>C	ENST00000309731.7	-	4	206	c.193A>G	c.(193-195)Ata>Gta	p.I65V	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	65						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCAGTGTTATCTGCAAACAC	0.542																																						uc002atq.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.e4-1		Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.							140.0	121.0	128.0					15																	72460907		2199	4297	6496	SO:0001630	splice_region_variant	196996					integral to membrane		g.chr15:72460907T>C	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.193-1A>G	15.37:g.72460907T>C						GRAMD2_uc010bis.2_Splice_Site_p.I65_splice	p.I65_splice	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			4	217	-			65					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.193_splice	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	6.630	0.484634	0.12641	.	.	ENSG00000175318	ENST00000309731	T	0.27256	1.68	5.45	4.31	0.51392	.	0.588174	0.17151	N	0.185050	T	0.10078	0.0247	N	0.03608	-0.345	0.24933	N	0.991903	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.16896	T	0.51	.	7.0445	0.25038	0.0:0.1112:0.0:0.8888	.	65	Q8IUY3	GRAM2_HUMAN	V	65	ENSP00000311657:I65V	ENSP00000311657:I65V	I	-	1	0	GRAMD2	70247961	1.000000	0.71417	0.896000	0.35187	0.813000	0.45954	3.200000	0.51051	0.890000	0.36211	0.533000	0.62120	ATA		0.542	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	Missense_Mutation
IDH3A	3419	broad.mit.edu	37	15	78454015	78454015	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:78454015G>T	ENST00000299518.2	+	5	465	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.V19F|IDH3A_ENST00000561366.1_5'Flank	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	128					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCGACCATGTGTCTCTATCGA	0.443																																						uc002bdd.3																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(382-384)Gtc>Ttc		Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						182.0	170.0	174.0					15																	78454015		2196	4293	6489	SO:0001583	missense	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454015G>T		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.382G>T	15.37:g.78454015G>T	ENSP00000299518:p.Val128Phe					IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F	p.V128F	NM_005530	NP_005521	P50213	IDH3A_HUMAN			4	409	+			128					D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	c.382G>T	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771690	0.90108	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.69040	-0.37;-0.37	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.051912	0.85682	D	0.000000	T	0.56702	0.2003	N	0.17674	0.51	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.49943	-0.8885	10	0.51188	T	0.08	-32.9018	19.5254	0.95203	0.0:0.0:1.0:0.0	.	128	P50213	IDH3A_HUMAN	F	128;19	ENSP00000299518:V128F;ENSP00000387506:V19F	ENSP00000299518:V128F	V	+	1	0	IDH3A	76241070	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.524000	0.73791	2.857000	0.98124	0.650000	0.86243	GTC		0.443	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530	
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						uc021ssz.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(1)|kidney(4)	5						c.(439-441)gtA>gtG		Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.																																				SO:0001819	synonymous_variant	647042							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C						LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript	p.V147V			A6NI86	GG6LA_HUMAN			5	577	-			159						Silent	SNP	ENST00000557886.1	37	c.441A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
PARN	5073	broad.mit.edu	37	16	14704541	14704541	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:14704541T>C	ENST00000437198.2	-	7	655	c.514A>G	c.(514-516)Acg>Gcg	p.T172A	PARN_ENST00000420015.2_Missense_Mutation_p.T126A|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.T111A|PARN_ENST00000566021.1_5'UTR	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	172					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAGGAATCGTGACAGGACAT	0.408																																						uc010uzd.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(514-516)Acg>Gcg		Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.							194.0	190.0	191.0					16																	14704541		1912	4136	6048	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14704541T>C	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.514A>G	16.37:g.14704541T>C	ENSP00000387911:p.Thr172Ala					PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	p.T172A	NM_002582	NP_001127949	O95453	PARN_HUMAN			6	660	-			172					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.514A>G	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	4.222	0.040017	0.08148	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.33	3.06	0.35304	Ribonuclease H-like (1);	0.357322	0.31834	N	0.006997	T	0.21631	0.0521	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	9	0.07990	T	0.79	-1.4487	5.6805	0.17774	0.1271:0.1441:0.0:0.7288	.	126;172	B4DWR4;O95453	.;PARN_HUMAN	A	172;111;126;155	.	ENSP00000345456:T111A	T	-	1	0	PARN	14612042	0.053000	0.20554	0.669000	0.29828	0.648000	0.38561	1.007000	0.29860	0.408000	0.25621	0.533000	0.62120	ACG		0.408	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
ZNF646	9726	broad.mit.edu	37	16	31087887	31087887	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:31087887G>A	ENST00000394979.2	+	1	665	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.G81D|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCACCTGTGGCAAGGACTTC	0.627																																						uc002eap.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(241-243)gGc>gAc		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							82.0	53.0	63.0					16																	31087887		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087887G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.242G>A	16.37:g.31087887G>A	ENSP00000378429:p.Gly81Asp					ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D	p.G81D	NM_014699	NP_055514	O15015	ZN646_HUMAN			1	531	+			81					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.242G>A		.	.	.	.	.	.	.	.	.	.	G	14.28	2.488716	0.44249	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.57752	0.38;0.38;0.38	5.9	4.86	0.63082	.	.	.	.	.	T	0.48370	0.1496	L	0.31157	0.91	0.27402	N	0.95482	P	0.51147	0.942	P	0.50440	0.641	T	0.42632	-0.9440	9	0.66056	D	0.02	-19.0412	8.056	0.30606	0.1975:0.0:0.8025:0.0	.	81	O15015-2	.	D	81	ENSP00000391271:G81D;ENSP00000300850:G81D;ENSP00000378429:G81D	ENSP00000300850:G81D	G	+	2	0	ZNF646	30995388	0.010000	0.17322	1.000000	0.80357	0.934000	0.57294	0.630000	0.24553	2.793000	0.96121	0.563000	0.77884	GGC		0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
NXN	64359	broad.mit.edu	37	17	722696	722696	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:722696C>T	ENST00000336868.3	-	5	894	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NXN_ENST00000538650.1_Missense_Mutation_p.R19Q|NXN_ENST00000537628.2_Missense_Mutation_p.R19Q|NXN_ENST00000575801.1_Missense_Mutation_p.R160Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	268	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607																																						uc002fsa.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(802-804)cGg>cAg		Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.							47.0	50.0	49.0					17																	722696		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:722696C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.803G>A	17.37:g.722696C>T	ENSP00000337443:p.Arg268Gln					NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q	p.R268Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	4	883	-			268			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.803G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952873	0.73787	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T	0.80214	-1.35	6.0	6.0	0.97389	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	N	0.05306	-0.075	0.26424	N	0.976058	B;D;D;D	0.76494	0.162;0.99;0.999;0.999	B;P;D;D	0.77557	0.034;0.776;0.99;0.986	T	0.73325	-0.4018	10	0.27082	T	0.32	-12.3853	19.4837	0.95020	0.0:1.0:0.0:0.0	.	160;19;155;268	B4DXQ0;B4DNN6;Q6DKJ4-2;Q6DKJ4	.;.;.;NXN_HUMAN	Q	268;19;160	ENSP00000337443:R268Q	ENSP00000337443:R268Q	R	-	2	0	NXN	669446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.949000	0.70257	2.849000	0.98006	0.609000	0.83330	CGG		0.607	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R273H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRT9	3857	broad.mit.edu	37	17	39727935	39727935	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:39727935C>T	ENST00000246662.4	-	1	375	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	104	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ctactatagcctcctccagaa	0.572																																						uc002hxe.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(310-312)Ggc>Agc		Homo sapiens keratin 9 (KRT9), mRNA.							129.0	153.0	145.0					17																	39727935		2201	4300	6501	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39727935C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.310G>A	17.37:g.39727935C>T	ENSP00000246662:p.Gly104Ser					JUP_uc010wfs.2_Intron	p.G104S	NM_000226	NP_000217	P35527	K1C9_HUMAN			0	376	-		Breast(137;0.000307)	104			Head.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.310G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581917	0.28180	.	.	ENSG00000171403	ENST00000246662	D	0.93426	-3.22	3.9	1.79	0.24919	.	.	.	.	.	D	0.87884	0.6290	L	0.57536	1.79	0.26086	N	0.98102	P	0.37955	0.612	B	0.28638	0.092	T	0.75792	-0.3193	9	0.18710	T	0.47	.	8.1385	0.31069	0.1544:0.7591:0.0:0.0865	.	104	P35527	K1C9_HUMAN	S	104	ENSP00000246662:G104S	ENSP00000246662:G104S	G	-	1	0	KRT9	36981461	.	.	0.007000	0.13788	0.002000	0.02628	.	.	0.588000	0.29660	-0.188000	0.12872	GGC		0.572	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
ABCA9	10350	broad.mit.edu	37	17	67012462	67012462	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:67012462T>C	ENST00000340001.4	-	22	3182	c.2971A>G	c.(2971-2973)Agc>Ggc	p.S991G	ABCA9_ENST00000453985.2_Missense_Mutation_p.S991G|ABCA9_ENST00000370732.2_Missense_Mutation_p.S991G|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	991					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTCCATTGCTAATGACATCC	0.348																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2971-2973)Agc>Ggc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							123.0	120.0	121.0					17																	67012462		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012462T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2971A>G	17.37:g.67012462T>C	ENSP00000342216:p.Ser991Gly					ABCA9_uc010dez.3_Missense_Mutation_p.S991G	p.S991G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			21	3114	-	Breast(10;1.47e-12)		991					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2971A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010259	0.75046	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87887	-2.31;-2.31	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000061	D	0.93449	0.7910	M	0.85777	2.775	0.39613	D	0.969919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.94782	0.7954	10	0.87932	D	0	.	12.8352	0.57770	0.0:0.0:0.0:1.0	.	991;991	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	991;974;991;986	ENSP00000342216:S991G;ENSP00000359767:S991G	ENSP00000342216:S991G	S	-	1	0	ABCA9	64524057	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.148000	0.64857	1.933000	0.56026	0.482000	0.46254	AGC		0.348	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
RECQL5	9400	broad.mit.edu	37	17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T	rs371987831		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:73627684C>T	ENST00000317905.5	-	9	1453	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.D405N|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	432					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other identified genes with known or suspected DNA repair function																														uc010dgl.3																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1294-1296)Gac>Aac	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.		C	ASN/ASP	0,4266		0,0,2133	35.0	40.0	39.0		1294	6.0	1.0	17		39	1,8465		0,1,4232	no	missense	RECQL5	NM_004259.6	23	0,1,6365	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	432/992	73627684	1,12731	2133	4233	6366	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627684C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1294G>A	17.37:g.73627684C>T	ENSP00000317636:p.Asp432Asn					RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	p.D432N	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		8	1503	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		432					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1294G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691356	0.68271	0.0	1.18E-4	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.75704	-0.96	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91909	0.5538	10	0.87932	D	0	-24.8148	20.428	0.99075	0.0:1.0:0.0:0.0	.	432;405	O94762;Q6P4G0	RECQ5_HUMAN;.	N	27;432;432	ENSP00000317636:D432N	ENSP00000317636:D432N	D	-	1	0	RECQL5	71139279	1.000000	0.71417	0.982000	0.44146	0.779000	0.44077	6.727000	0.74764	2.837000	0.97791	0.655000	0.94253	GAC		0.701	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
NDUFV2	4729	broad.mit.edu	37	18	9124948	9124948	+	Silent	SNP	C	C	T	rs143576401	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr18:9124948C>T	ENST00000318388.6	+	6	660	c.546C>T	c.(544-546)aaC>aaT	p.N182N	RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Silent_p.N185N|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	182					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CCTGTGTGAACGCACCAATGG	0.313													C|||	4	0.000798722	0.003	0.0	5008	,	,		12784	0.0		0.0	False		,,,				2504	0.0					uc002knu.3																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(544-546)aaC>aaT		Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)	C		12,4394	19.1+/-41.9	0,12,2191	63.0	64.0	63.0		546	-0.0	1.0	18	dbSNP_134	63	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	NDUFV2	NM_021074.4		0,14,6489	TT,TC,CC		0.0233,0.2724,0.1076		182/250	9124948	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9124948C>T	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.546C>T	18.37:g.9124948C>T							p.N182N	NM_021074	NP_066552	P19404	NDUV2_HUMAN			5	660	+			182					Q9BV41	Silent	SNP	ENST00000318388.6	37	c.546C>T	CCDS11842.1																																																																																				0.313	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074	
GRIN3B	116444	broad.mit.edu	37	19	1004870	1004870	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:1004870A>G	ENST00000234389.3	+	3	1389	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	457					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCACCCTGGACGCACTGTTC	0.672																																						uc002lqo.1																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1369-1371)gAc>gGc		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						52.0	50.0	51.0					19																	1004870		2201	4296	6497	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004870A>G		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1370A>G	19.37:g.1004870A>G	ENSP00000234389:p.Asp457Gly						p.D457G	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1370	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	457					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1370A>G	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	A	9.441	1.088134	0.20390	.	.	ENSG00000116032	ENST00000234389	T	0.11930	2.73	4.61	3.34	0.38264	.	0.324121	0.31834	N	0.006990	T	0.12433	0.0302	L	0.46157	1.445	0.41081	D	0.985525	B	0.14012	0.009	B	0.08055	0.003	T	0.05989	-1.0852	10	0.46703	T	0.11	.	9.6832	0.40082	0.8963:0.0:0.1037:0.0	.	457	O60391	NMD3B_HUMAN	G	457	ENSP00000234389:D457G	ENSP00000234389:D457G	D	+	2	0	GRIN3B	955870	1.000000	0.71417	0.307000	0.25127	0.275000	0.26752	6.875000	0.75551	1.741000	0.51731	0.397000	0.26171	GAC		0.672	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
PTPRS	5802	broad.mit.edu	37	19	5211663	5211663	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:5211663C>T	ENST00000587303.1	-	32	5271	c.5172G>A	c.(5170-5172)ctG>ctA	p.L1724L	PTPRS_ENST00000357368.4_Silent_p.L1724L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.L1704L|PTPRS_ENST00000588012.1_Silent_p.L1686L|PTPRS_ENST00000372412.4_Silent_p.L1725L|PTPRS_ENST00000353284.2_Silent_p.L1277L|PTPRS_ENST00000348075.2_Silent_p.L1686L|PTPRS_ENST00000592099.1_Silent_p.L1277L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1724	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGATGGGTTGCAGACAGACCC	0.562																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5170-5172)ctG>ctA		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							136.0	109.0	118.0					19																	5211663		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5211663C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5172G>A	19.37:g.5211663C>T						PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L	p.L1724L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	32	5406	-			1724			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.5172G>A	CCDS45930.1																																																																																				0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
C3	718	broad.mit.edu	37	19	6711035	6711035	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:6711035C>T	ENST00000245907.6	-	12	1534	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	481					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCGTGGGCGCGGTCCATTCG	0.607																																						uc002mfm.3																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1441-1443)cGc>cAc		Homo sapiens complement component 3 (C3), mRNA.							231.0	203.0	212.0					19																	6711035		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6711035C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1442G>A	19.37:g.6711035C>T	ENSP00000245907:p.Arg481His						p.R481H	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	11	1504	-			481					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1442G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	7.791	0.711640	0.15306	.	.	ENSG00000125730	ENST00000245907	T	0.32988	1.43	4.5	2.14	0.27477	Alpha-2-macroglobulin, N-terminal 2 (1);	1.240140	0.05216	N	0.507763	T	0.19967	0.0480	N	0.19112	0.55	0.09310	N	1	P	0.44139	0.827	B	0.35859	0.212	T	0.24225	-1.0166	10	0.42905	T	0.14	.	9.4338	0.38626	0.0:0.3266:0.537:0.1364	.	481	P01024	CO3_HUMAN	H	481	ENSP00000245907:R481H	ENSP00000245907:R481H	R	-	2	0	C3	6662035	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	0.171000	0.16685	1.068000	0.40764	-0.310000	0.09108	CGC		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
PDE4C	5143	broad.mit.edu	37	19	18331288	18331288	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:18331288G>A	ENST00000355502.3	-	10	1504	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Silent_p.D211D|PDE4C_ENST00000447275.3_Silent_p.D105D|PDE4C_ENST00000594465.3_Silent_p.D211D|PDE4C_ENST00000262805.12_Silent_p.D179D|PDE4C_ENST00000539010.1_De_novo_Start_OutOfFrame|PDE4C_ENST00000597297.1_Intron|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	211				D -> Y (in Ref. 2; AAD47053/AAD47054). {ECO:0000305}.	cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGTCCAGCTCGTCTAGCGTCT	0.672																																						uc010xqc.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(631-633)gaC>gaT		Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	Dyphylline(DB00651)						101.0	73.0	82.0					19																	18331288		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331288G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.633C>T	19.37:g.18331288G>A						PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	p.D211D	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			5	1113	-			211	D -> Y (in Ref. 2; AAD47053/AAD47054).				B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.633C>T	CCDS12373.1																																																																																				0.672	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1		
SBSN	374897	broad.mit.edu	37	19	36017633	36017633	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:36017633G>T	ENST00000452271.2	-	1	1579	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	SBSN_ENST00000518157.1_Missense_Mutation_p.H174Q	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	517	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCAGCATGGTGGGCACCTT	0.582																																						uc002oad.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1549-1551)caC>caA		Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.							137.0	114.0	121.0					19																	36017633		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36017633G>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1551C>A	19.37:g.36017633G>T	ENSP00000430242:p.His517Gln					SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron	p.H517Q	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		0	1621	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		174					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1551C>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.271904	0.40194	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.51817	0.91;0.69	4.1	4.1	0.47936	.	0.175242	0.26297	U	0.025189	T	0.52175	0.1718	M	0.62723	1.935	0.29078	N	0.882855	B;D	0.57899	0.138;0.981	B;P	0.56514	0.037;0.8	T	0.50268	-0.8848	10	0.02654	T	1	.	12.1542	0.54066	0.0:0.0:1.0:0.0	.	174;517	Q6UWP8;E9PBV3	SBSN_HUMAN;.	Q	517;174	ENSP00000430242:H517Q;ENSP00000428771:H174Q	ENSP00000430242:H517Q	H	-	3	2	SBSN	40709473	.	.	1.000000	0.80357	0.958000	0.62258	.	.	1.982000	0.57802	0.306000	0.20318	CAC		0.582	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
ZNF569	148266	broad.mit.edu	37	19	37904719	37904719	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:37904719G>T	ENST00000316950.6	-	6	1398	c.841C>A	c.(841-843)Cag>Aag	p.Q281K	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q122K|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q281K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	281					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTTCTGGCTGAAGGAC	0.358																																						uc002ogj.3																			0		p.K305R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(913-915)Cag>Aag		Homo sapiens zinc finger protein 569 (ZNF569), mRNA.							78.0	81.0	80.0					19																	37904719		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904719G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.841C>A	19.37:g.37904719G>T	ENSP00000325018:p.Gln281Lys					ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K	p.Q305K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1845	-			281					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.913C>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670795	0.29693	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.07327	3.2;3.2	3.97	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002963	T	0.13586	0.0329	N	0.22421	0.69	0.09310	N	1	B;P	0.51449	0.316;0.945	B;D	0.65573	0.109;0.936	T	0.13737	-1.0498	10	0.27785	T	0.31	.	13.0807	0.59112	0.0:0.1638:0.8362:0.0	.	122;281	Q17RR6;Q5MCW4	.;ZN569_HUMAN	K	281;122	ENSP00000325018:Q281K;ENSP00000375993:Q122K	ENSP00000325018:Q281K	Q	-	1	0	ZNF569	42596559	0.000000	0.05858	0.988000	0.46212	0.988000	0.76386	0.094000	0.15107	2.204000	0.70986	0.655000	0.94253	CAG		0.358	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF155	7711	broad.mit.edu	37	19	44500816	44500816	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:44500816C>A	ENST00000270014.2	+	5	935	c.807C>A	c.(805-807)ttC>ttA	p.F269L	ZNF155_ENST00000590615.1_Missense_Mutation_p.F269L|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.F280L|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	269					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(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAGGCCTTCATTCATGATT	0.398																																					NSCLC(61;554 1277 20909 42067 42312)	uc010xwt.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(838-840)ttC>ttA		Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.							116.0	116.0	116.0					19																	44500816		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500816C>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.807C>A	19.37:g.44500816C>A	ENSP00000270014:p.Phe269Leu					ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L	p.F280L	NM_198089	NP_932355	Q12901	ZN155_HUMAN			5	1024	+		Prostate(69;0.0352)	269					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.840C>A	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.441685|2.441685	0.43326|0.43326	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.46063|.	0.88;0.88|.	2.59|2.59	1.53|1.53	0.23141|0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.42562|.	0.1208|.	L|L	0.56280|0.56280	1.765|1.765	0.23572|0.23572	N|N	0.997389|0.997389	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|.	0.38564|.	-0.9655|.	9|.	0.87932|0.87932	D|D	0|0	.|.	5.8901|5.8901	0.18909|0.18909	0.0:0.7296:0.0:0.2704|0.0:0.7296:0.0:0.2704	.|.	280;269|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|X	280;269|143	ENSP00000385163:F280L;ENSP00000270014:F269L|.	ENSP00000270014:F269L|ENSP00000401576:S143X	F|S	+|+	3|2	2|0	ZNF155|ZNF155	49192656|49192656	0.002000|0.002000	0.14202|0.14202	0.009000|0.009000	0.14445|0.14445	0.011000|0.011000	0.07611|0.07611	-0.055000|-0.055000	0.11807|0.11807	0.406000|0.406000	0.25560|0.25560	-0.379000|-0.379000	0.06801|0.06801	TTC|TCA		0.398	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445	
PNMAL1	55228	broad.mit.edu	37	19	46973358	46973359	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:46973358_46973359CA>AT	ENST00000313683.10	-	2	1239_1240	c.934_935TG>AT	c.(934-936)TGg>ATg	p.W312M	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.W312M	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	312										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGACCCTTCCAGGCACATTTC	0.584																																						uc002peq.4																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(934-936)tgg>ATg		Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.																																				SO:0001583	missense	55228							g.chr19:46973358_46973359CA>AT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.934_935delinsAT	19.37:g.46973358_46973359delinsAT	ENSP00000318131:p.Trp312Met					PNMAL1_uc002per.4_Missense_Mutation_p.W312M	p.W312M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1240_1241	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	312					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	DNP	ENST00000313683.10	37	c.934_935TG>AT	CCDS33059.1																																																																																				0.584	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
APOB	338	broad.mit.edu	37	2	21230155	21230155	+	Missense_Mutation	SNP	C	C	G	rs141840973		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21230155C>G	ENST00000233242.1	-	26	9712	c.9585G>C	c.(9583-9585)gaG>gaC	p.E3195D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3195	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGATAAACTCACAAAGCA	0.323																																						uc002red.3																			0		p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9583-9585)gaG>gaC		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						60.0	58.0	59.0					2																	21230155		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230155C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9585G>C	2.37:g.21230155C>G	ENSP00000233242:p.Glu3195Asp						p.E3195D	NM_000384	NP_000375	P04114	APOB_HUMAN			25	9713	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3195			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9585G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.107769	0.01813	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38077	1.16	5.3	-3.84	0.04256	.	0.742000	0.12265	N	0.484400	T	0.16981	0.0408	L	0.31157	0.91	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.20638	-1.0269	10	0.27082	T	0.32	.	0.2	0.00144	0.3535:0.1515:0.2134:0.2817	.	3195	P04114	APOB_HUMAN	D	3195	ENSP00000233242:E3195D	ENSP00000233242:E3195D	E	-	3	2	APOB	21083660	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.345000	0.07770	-0.313000	0.08728	0.563000	0.77884	GAG		0.323	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21246441	21246441	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21246441T>C	ENST00000233242.1	-	17	2687	c.2560A>G	c.(2560-2562)Att>Gtt	p.I854V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	854					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGAGCAATGACTCCAGAT	0.423																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2560-2562)Att>Gtt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						108.0	102.0	104.0					2																	21246441		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21246441T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2560A>G	2.37:g.21246441T>C	ENSP00000233242:p.Ile854Val						p.I854V	NM_000384	NP_000375	P04114	APOB_HUMAN			16	2688	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		854					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2560A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	2.371	-0.344309	0.05208	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.13089	2.62	5.35	-1.62	0.08372	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.705821	0.12955	N	0.425536	T	0.05823	0.0152	N	0.25890	0.77	0.09310	N	0.999994	B	0.17465	0.022	B	0.17433	0.018	T	0.41270	-0.9518	10	0.07990	T	0.79	.	0.9683	0.01410	0.1394:0.2228:0.2678:0.37	.	854	P04114	APOB_HUMAN	V	854	ENSP00000233242:I854V	ENSP00000233242:I854V	I	-	1	0	APOB	21099946	0.939000	0.31865	0.917000	0.36280	0.059000	0.15707	0.403000	0.20982	-0.184000	0.10567	0.533000	0.62120	ATT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
SPTBN1	6711	broad.mit.edu	37	2	54857158	54857158	+	Silent	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:54857158C>A	ENST00000356805.4	+	15	3080	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	SPTBN1_ENST00000333896.5_Silent_p.L920L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	933					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGACAAACTCAACACAAGGT	0.582																																						uc002rxu.3																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2797-2799)ctC>ctA		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							60.0	56.0	58.0					2																	54857158		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54857158C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2799C>A	2.37:g.54857158C>A						SPTBN1_uc002rxx.3_Silent_p.L920L	p.L933L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	3048	+			933					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.2799C>A	CCDS33198.1																																																																																				0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
WDR33	55339	broad.mit.edu	37	2	128471476	128471476	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:128471476T>C	ENST00000322313.4	-	18	3147	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	997					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGACCCCTGCAGTCCTGG	0.647																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2989-2991)Agg>Ggg		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							78.0	87.0	84.0					2																	128471476		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471476T>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2989A>G	2.37:g.128471476T>C	ENSP00000325377:p.Arg997Gly						p.R997G	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3188	-	Colorectal(110;0.1)		997					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2989A>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895778	0.72639	.	.	ENSG00000136709	ENST00000322313	D	0.90444	-2.67	5.57	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.88603	0.6481	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	D	0.86361	0.1717	10	0.29301	T	0.29	-5.055	12.6414	0.56712	0.0:0.0:0.1382:0.8618	.	997	Q9C0J8	WDR33_HUMAN	G	997	ENSP00000325377:R997G	ENSP00000325377:R997G	R	-	1	2	WDR33	128187946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.489000	0.60309	0.903000	0.36546	0.533000	0.62120	AGG		0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
COL18A1	80781	broad.mit.edu	37	21	46925140	46925141	+	In_Frame_Ins	INS	-	-	GGCCCCCCA	rs369702868	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr21:46925140_46925141insGGCCCCCCA	ENST00000359759.4	+	34	4227_4228	c.4206_4207insGGCCCCCCA	c.(4207-4209)ggc>GGCCCCCCAggc	p.1403_1403G>GPPG	COL18A1_ENST00000400337.2_In_Frame_Ins_p.988_988G>GPPG|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_In_Frame_Ins_p.1168_1168G>GPPG			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1403	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCCCTCCCGGCCCCCCAGG	0.733																																						uc002zhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3499-3504)insGGCCCCCCA		Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925140_46925141insGGCCCCCCA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4216_4224dupGGCCCCCCA	21.37:g.46925141_46925149dupGGCCCCCCA	ENSP00000352798:p.ProProGly1409dup					COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank	p.1176_1177insGPP	NM_030582	NP_085059	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	33	3522_3523	+			1411			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Ins	INS	ENST00000359759.4	37	c.3501_3502insGGCCCCCCA																																																																																					0.733	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
RASL10A	10633	broad.mit.edu	37	22	29707873	29707873	+	IGR	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:29707873G>A	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000471961.1_Missense_Mutation_p.A478T|GAS2L1_ENST00000407647.2_Missense_Mutation_p.A478T|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.A478T|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Missense_Mutation_p.A478T|RASL10A_ENST00000608559.1_5'Flank	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCCCGTGCCCGCAGCCCTGCA	0.711																																						uc003afa.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1429-1431)cGc>cAc		Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.							7.0	10.0	9.0					22																	29707873		1954	4013	5967	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707873G>A	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707873G>A						GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T	p.R477H	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			6	1629	+			478					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1430G>A	CCDS13854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.653|8.653	0.898764|0.898764	0.17686|0.17686	.|.	.|.	ENSG00000185340|ENSG00000185340	ENST00000407647;ENST00000403764;ENST00000471961;ENST00000407854|ENST00000333679	T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82|.	3.6|3.6	-0.316|-0.316	0.12743|0.12743	.|.	.|0.614745	.|0.12071	.|N	.|0.502272	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.29704|0.29704	N|N	0.839932|0.839932	B|B;B	0.09022|0.02656	0.002|0.0;0.0	B|B;B	0.04013|0.01281	0.001|0.0;0.0	T|T	0.16070|0.16070	-1.0415|-1.0415	9|9	0.15952|0.39692	T|T	0.53|0.17	-0.3569|-0.3569	1.4451|1.4451	0.02362|0.02362	0.2097:0.1649:0.4566:0.1688|0.2097:0.1649:0.4566:0.1688	.|.	478|478;478	E7EQM6|A0A5E8;Q99501	.|.;GA2L1_HUMAN	T|H	478|477	ENSP00000385554:A478T;ENSP00000385358:A478T;ENSP00000450152:A478T;ENSP00000385023:A478T|.	ENSP00000385358:A478T|ENSP00000332834:R477H	A|R	+|+	1|2	0|0	GAS2L1|GAS2L1	28037873|28037873	0.017000|0.017000	0.18338|0.18338	0.303000|0.303000	0.25071|0.25071	0.255000|0.255000	0.26057|0.26057	0.147000|0.147000	0.16202|0.16202	0.173000|0.173000	0.19788|0.19788	0.491000|0.491000	0.48974|0.48974	GCA|CGC		0.711	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1		
EP300	2033	broad.mit.edu	37	22	41564740	41564740	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:41564740A>G	ENST00000263253.7	+	25	5260	c.4041A>G	c.(4039-4041)ggA>ggG	p.G1347G	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1347	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)			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						TGGACAGTGGAGAGATGGCAG	0.433			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.4				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"""		0				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						c.(4039-4041)ggA>ggG		Homo sapiens E1A binding protein p300 (EP300), mRNA.							175.0	154.0	162.0					22																	41564740		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564740A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4041A>G	22.37:g.41564740A>G							p.G1347G	NM_001429	NP_001420	Q09472	EP300_HUMAN			24	4436	+			1347					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4041A>G	CCDS14010.1																																																																																				0.433	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
CHL1	10752	broad.mit.edu	37	3	367748	367748	+	Splice_Site	SNP	G	G	A	rs368124235		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:367748G>A	ENST00000256509.2	+	4	839		c.e4+1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCAACGTGAGTATTGT	0.393																																						uc003bot.3																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e4+1		Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.							67.0	69.0	68.0					3																	367748		2202	4300	6502	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367748G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.197+1G>A	3.37:g.367748G>A						CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice	p.T66_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	839	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	66			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37	c.197_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399349	0.42512	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000421198;ENST00000435603;ENST00000449294	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7089	0.88316	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	342748	1.000000	0.71417	0.954000	0.39281	0.246000	0.25737	7.870000	0.87175	2.605000	0.88082	0.454000	0.30748	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron
ATP2B2	491	broad.mit.edu	37	3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	rs149328739		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:10491052C>T	ENST00000352432.4	-	1	245	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R59H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R59H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	59					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		16792	0.0		0.0	False		,,,				2504	0.001				Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0		p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(175-177)cGc>cAc		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	67.0	69.0		176,176	4.9	1.0	3	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B2	NM_001001331.2,NM_001683.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	59/1244,59/1199	10491052	2,13004	2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10491052C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.176G>A	3.37:g.10491052C>T	ENSP00000324172:p.Arg59His					ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	p.R59H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			1	615	-			59					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.176G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744985	0.69418	2.27E-4	1.16E-4	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	4.9	4.9	0.64082	ATPase, P-type cation-transporter, N-terminal (2);	0.071490	0.56097	D	0.000023	T	0.80088	0.4559	M	0.67953	2.075	0.80722	D	1	B;B;B	0.27286	0.002;0.03;0.174	B;B;B	0.29524	0.003;0.021;0.103	T	0.79685	-0.1700	10	0.54805	T	0.06	-24.0908	15.5665	0.76298	0.0:1.0:0.0:0.0	.	59;71;59	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	H	59;59;59;59;59;25;59	ENSP00000324172:R59H;ENSP00000373311:R59H;ENSP00000380267:R59H;ENSP00000353414:R59H;ENSP00000344677:R59H	ENSP00000342954:R59H	R	-	2	0	ATP2B2	10466052	0.948000	0.32251	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.275000	0.75901	0.462000	0.41574	CGC		0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
ZNF385D	79750	broad.mit.edu	37	3	21706493	21706493	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:21706493G>A	ENST00000281523.2	-	2	568	c.50C>T	c.(49-51)cCg>cTg	p.P17L	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	17						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACAAGGGCCGGGAGAGCAGG	0.517																																						uc003cce.3																			0		p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(49-51)cCg>cTg		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							71.0	67.0	68.0					3																	21706493		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706493G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.50C>T	3.37:g.21706493G>A	ENSP00000281523:p.Pro17Leu					ZNF385D_uc010hfb.1_Intron	p.P17L	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			1	458	-			17						Missense_Mutation	SNP	ENST00000281523.2	37	c.50C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612520	0.66672	.	.	ENSG00000151789	ENST00000281523	T	0.36699	1.24	5.62	5.62	0.85841	.	0.062950	0.64402	D	0.000005	T	0.20088	0.0483	L	0.28014	0.82	0.53688	D	0.999973	P	0.47545	0.897	B	0.31686	0.134	T	0.19063	-1.0317	10	0.02654	T	1	-3.3425	18.6348	0.91372	0.0:0.0:1.0:0.0	.	17	Q9H6B1	Z385D_HUMAN	L	17	ENSP00000281523:P17L	ENSP00000281523:P17L	P	-	2	0	ZNF385D	21681497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.114000	0.77103	2.651000	0.90000	0.591000	0.81541	CCG		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
TOMM70A	9868	broad.mit.edu	37	3	100105109	100105109	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:100105109C>T	ENST00000284320.5	-	3	1026	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	193					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGCTTTTGCACGTCTAAAGAG	0.323																																						uc003dtw.3																			0		p.R193C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(577-579)cGt>cAt		Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.							169.0	165.0	167.0					3																	100105109		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105109C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.578G>A	3.37:g.100105109C>T	ENSP00000284320:p.Arg193His						p.R193H	NM_014820	NP_055635	O94826	TOM70_HUMAN			2	1027	-			193					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.578G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176089	0.94846	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.76578	-1.03	6.07	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90216	0.4268	10	0.66056	D	0.02	-9.6723	15.8057	0.78506	0.0:0.9341:0.0:0.0659	.	193	O94826	TOM70_HUMAN	H	193;86	ENSP00000284320:R193H	ENSP00000284320:R193H	R	-	2	0	TOMM70A	101587799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	CGT		0.323	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2		
LRRC31	79782	broad.mit.edu	37	3	169572742	169572742	+	Missense_Mutation	SNP	G	G	T	rs555692167		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:169572742G>T	ENST00000316428.5	-	6	907	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L228M|LRRC31_ENST00000523069.1_Missense_Mutation_p.L284M	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	284										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATTTCCTCAGCTCACCCAAA	0.458																																						uc003fgc.1																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(850-852)Ctg>Atg		Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.							103.0	94.0	97.0					3																	169572742		1891	4112	6003	SO:0001583	missense	79782							g.chr3:169572742G>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.850C>A	3.37:g.169572742G>T	ENSP00000325978:p.Leu284Met					LRRC31_uc010hwp.1_Missense_Mutation_p.L228M	p.L284M	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		5	915	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		284					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.850C>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564417	0.45694	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.71103	-0.54;-0.54;-0.54	4.57	2.44	0.29823	.	0.000000	0.64402	D	0.000003	T	0.79040	0.4379	M	0.71581	2.175	0.24859	N	0.992359	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66563	-0.5892	10	0.54805	T	0.06	1.458	6.599	0.22691	0.4138:0.0:0.5862:0.0	.	228;284	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	M	284;228;284	ENSP00000325978:L284M;ENSP00000264676:L228M;ENSP00000429145:L284M	ENSP00000264676:L228M	L	-	1	2	LRRC31	171055436	0.991000	0.36638	0.060000	0.19600	0.792000	0.44763	2.409000	0.44583	0.926000	0.37118	0.561000	0.74099	CTG		0.458	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
PLD1	5337	broad.mit.edu	37	3	171426553	171426553	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:171426553T>C	ENST00000351298.4	-	11	1263	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	PLD1_ENST00000342215.6_Silent_p.T379T|PLD1_ENST00000356327.5_Silent_p.T379T|PLD1_ENST00000340989.4_Silent_p.T379T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	379					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACCAGTCTGTGATAAAAA	0.348																																					NSCLC(149;2174 3517 34058)	uc003fhs.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1135-1137)acA>acG		Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	Choline(DB00122)						156.0	156.0	156.0					3																	171426553		2201	4300	6501	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171426553T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1137A>G	3.37:g.171426553T>C						PLD1_uc003fht.3_Silent_p.T379T	p.T379T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1484	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		379						Silent	SNP	ENST00000351298.4	37	c.1137A>G	CCDS3216.1																																																																																				0.348	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
KCTD8	386617	broad.mit.edu	37	4	44176993	44176993	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:44176993G>T	ENST00000360029.3	-	2	1519	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	412					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGGTCTGAAAGAGTTCACTGT	0.438										HNSCC(17;0.042)																												uc003gwu.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1234-1236)ctC>ctA		Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.							219.0	227.0	224.0					4																	44176993		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176993G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1236C>A	4.37:g.44176993G>T		HNSCC(17;0.042)					p.L412L	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	1520	-			412					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1236C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.819014	0.00595	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.76	3.88	0.44766	.	.	.	.	.	T	0.68210	0.2976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67432	-0.5672	4	.	.	.	.	13.5378	0.61655	0.0:0.0:0.8431:0.1569	.	.	.	.	Y	148	.	.	S	-	2	0	KCTD8	43871750	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.291000	0.43540	1.290000	0.44636	0.650000	0.86243	TCT		0.438	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		
ADAMTS3	9508	broad.mit.edu	37	4	73175150	73175150	+	Missense_Mutation	SNP	C	C	T	rs552175669		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:73175150C>T	ENST00000286657.4	-	15	2179	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	715	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCCCTTCACGGTTCGGCAG	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0		p.V715V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2143-2145)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							131.0	122.0	125.0					4																	73175150		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175150C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2143G>A	4.37:g.73175150C>T	ENSP00000286657:p.Val715Met					ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M	p.V715M	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		14	2180	-			715			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2143G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872892	0.91664	.	.	ENSG00000156140	ENST00000286657	T	0.70164	-0.46	5.53	5.53	0.82687	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.84584	0.5504	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85814	0.1381	10	0.62326	D	0.03	.	19.8115	0.96547	0.0:1.0:0.0:0.0	.	715	O15072	ATS3_HUMAN	M	715	ENSP00000286657:V715M	ENSP00000286657:V715M	V	-	1	0	ADAMTS3	73394014	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.742000	0.68646	2.751000	0.94390	0.557000	0.71058	GTG		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
UGT3A2	167127	broad.mit.edu	37	5	36048994	36048994	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:36048994T>C	ENST00000282507.3	-	4	941	c.840A>G	c.(838-840)ccA>ccG	p.P280P	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.P246P	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	280					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTACTTGTGGTACTGGTT	0.463																																						uc003jjz.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(838-840)ccA>ccG		Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.							106.0	103.0	104.0					5																	36048994		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36048994T>C		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.840A>G	5.37:g.36048994T>C						UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron	p.P280P	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	972	-	all_lung(31;0.000179)		280					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.840A>G	CCDS3914.1																																																																																				0.463	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
NNT	23530	broad.mit.edu	37	5	43653189	43653189	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:43653189C>A	ENST00000264663.5	+	14	2154	c.1933C>A	c.(1933-1935)Cgt>Agt	p.R645S	NNT_ENST00000512996.2_Missense_Mutation_p.R514S|NNT_ENST00000344920.4_Missense_Mutation_p.R645S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	645					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGGAACAGCACGTCTTGGCAA	0.542																																						uc003joe.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1933-1935)Cgt>Agt		Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						97.0	89.0	92.0					5																	43653189		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43653189C>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1933C>A	5.37:g.43653189C>A	ENSP00000264663:p.Arg645Ser					NNT_uc003jof.3_Missense_Mutation_p.R645S	p.R645S	NM_012343	NP_892022	Q13423	NNTM_HUMAN			13	2188	+	Lung NSC(6;2.58e-06)		645					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1933C>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544756	0.96488	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92495	-3.05;-3.05;-3.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97185	0.9080	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97273	0.9912	10	0.87932	D	0	-12.9606	20.4192	0.99033	0.0:1.0:0.0:0.0	.	645	Q13423	NNTM_HUMAN	S	160;645;645;514	ENSP00000264663:R645S;ENSP00000343873:R645S;ENSP00000426343:R514S	ENSP00000264663:R645S	R	+	1	0	NNT	43688946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	CGT		0.542	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
GFRAL	389400	broad.mit.edu	37	6	55223736	55223736	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr6:55223736A>T	ENST00000340465.2	+	6	838	c.752A>T	c.(751-753)aAg>aTg	p.K251M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	251					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGACTAGAAAGTGCCATGAA	0.393																																						uc003pcm.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(751-753)aAg>aTg		Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.							171.0	148.0	156.0					6																	55223736		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223736A>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.752A>T	6.37:g.55223736A>T	ENSP00000343636:p.Lys251Met						p.K251M	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	838	+	Lung NSC(77;0.0875)|Renal(3;0.122)		251					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.752A>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156097	0.57259	.	.	ENSG00000187871	ENST00000340465	T	0.65916	-0.18	5.8	3.35	0.38373	GDNF/GAS1 (2);	0.347917	0.29631	N	0.011610	T	0.60209	0.2251	M	0.63843	1.955	0.25738	N	0.985194	D	0.89917	1.0	D	0.75020	0.985	T	0.55835	-0.8078	10	0.66056	D	0.02	-8.5793	6.9663	0.24625	0.6436:0.2839:0.0725:0.0	.	251	Q6UXV0	GFRAL_HUMAN	M	251	ENSP00000343636:K251M	ENSP00000343636:K251M	K	+	2	0	GFRAL	55331695	0.986000	0.35501	0.569000	0.28460	0.906000	0.53458	0.687000	0.25407	0.432000	0.26286	0.528000	0.53228	AAG		0.393	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
CCDC146	57639	broad.mit.edu	37	7	76883866	76883866	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:76883866A>T	ENST00000285871.4	+	5	620	c.493A>T	c.(493-495)Ata>Tta	p.I165L	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	165										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTGAGAAGATAACAAAGCC	0.279																																						uc003uga.3																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(493-495)Ata>Tta		Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.							59.0	62.0	61.0					7																	76883866		2201	4300	6501	SO:0001583	missense	57639							g.chr7:76883866A>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.493A>T	7.37:g.76883866A>T	ENSP00000285871:p.Ile165Leu						p.I165L	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			4	620	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	165					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.493A>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769901	0.49680	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D	0.84800	-1.9	5.52	5.52	0.82312	.	0.109070	0.64402	D	0.000007	D	0.83018	0.5163	M	0.68317	2.08	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.78290	-0.2261	10	0.27082	T	0.32	-24.1272	13.899	0.63790	1.0:0.0:0.0:0.0	.	165	Q8IYE0	CC146_HUMAN	L	165	ENSP00000285871:I165L	ENSP00000285871:I165L	I	+	1	0	AC007000.1	76721802	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.016000	0.49607	2.227000	0.72691	0.455000	0.32223	ATA		0.279	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
SEMA3C	10512	broad.mit.edu	37	7	80387714	80387714	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:80387714G>C	ENST00000265361.3	-	15	2137	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.L526V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.L544V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	526					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCCGCGCCAGGCAGCAGTCA	0.522																																						uc011kgw.2																			0		p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1630-1632)Ctg>Gtg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							108.0	105.0	106.0					7																	80387714		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387714G>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1576C>G	7.37:g.80387714G>C	ENSP00000265361:p.Leu526Val					SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V	p.L544V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1709	-			526					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1630C>G	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982229	0.74474	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.24908	1.83;1.83;1.83	5.47	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.70350	-0.4896	10	0.87932	D	0	.	12.3925	0.55366	0.1389:0.0:0.8611:0.0	.	544;526	F5H1Z7;Q99985	.;SEM3C_HUMAN	V	526;526;544	ENSP00000265361:L526V;ENSP00000411193:L526V;ENSP00000445649:L544V	ENSP00000265361:L526V	L	-	1	2	SEMA3C	80225650	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.450000	0.52957	0.762000	0.33152	0.467000	0.42956	CTG		0.522	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
PCLO	27445	broad.mit.edu	37	7	82532013	82532013	+	Silent	SNP	G	G	A	rs377615400		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:82532013G>A	ENST00000333891.9	-	9	13819	c.13482C>T	c.(13480-13482)caC>caT	p.H4494H	PCLO_ENST00000423517.2_Silent_p.H4494H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTATCCTTGCGTGAGGAAAGA	0.303																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13480-13482)caC>caT		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							201.0	182.0	188.0					7																	82532013		1830	4086	5916	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82532013G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13482C>T	7.37:g.82532013G>A						PCLO_uc003uhv.2_Silent_p.H4494H	p.H4494H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13771	-			4425						Silent	SNP	ENST00000333891.9	37	c.13482C>T	CCDS47630.1																																																																																				0.303	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
FIS1	51024	broad.mit.edu	37	7	100884131	100884131	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:100884131C>T	ENST00000223136.4	-	3	315	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	FIS1_ENST00000442303.1_Missense_Mutation_p.R55H|CLDN15_ENST00000401528.1_5'Flank|CLDN15_ENST00000308344.5_5'Flank|FIS1_ENST00000474120.1_Missense_Mutation_p.R24H|FIS1_ENST00000482199.1_5'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	79					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCCCACGGCCAGGTAG	0.602																																						uc003uyj.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(235-237)Gtg>Atg		Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.							98.0	105.0	102.0					7																	100884131		2020	4156	6176	SO:0001583	missense	51024				apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	g.chr7:100884131C>T	AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"""CGI-135 protein"""	609003	"""tetratricopeptide repeat domain 11"", ""fission 1 (mitochondrial outer membrane) homolog (yeast)"""	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.235G>A	7.37:g.100884131C>T	ENSP00000223136:p.Val79Met					CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	p.V79M	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN			2	321	-	Lung NSC(181;0.168)|all_lung(186;0.215)		79					Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	c.235G>A	CCDS43626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320312|3.320312	0.60634|0.60634	.|.	.|.	ENSG00000214253|ENSG00000214253	ENST00000474120;ENST00000442303|ENST00000223136	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.52532	.|U	.|0.000075	T|T	0.78515|0.78515	0.4295|0.4295	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.64830	.|0.994	.|D	.|0.63033	.|0.91	T|T	0.81933|0.81933	-0.0706|-0.0706	6|9	0.87932|0.72032	D|D	0|0.01	.|.	15.9888|15.9888	0.80183|0.80183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|79	.|Q9Y3D6	.|FIS1_HUMAN	H|M	24;55|79	.|.	ENSP00000395964:R55H|ENSP00000223136:V79M	R|V	-|-	2|1	0|0	FIS1|FIS1	100670851|100670851	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	6.557000|6.557000	0.73937|0.73937	2.385000|2.385000	0.81259|0.81259	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.602	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068	
HIPK2	28996	broad.mit.edu	37	7	139281490	139281490	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:139281490T>C	ENST00000406875.3	-	12	2784	c.2690A>G	c.(2689-2691)gAg>gGg	p.E897G	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E870G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	897	Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.|Interaction with UBE2I. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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 transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGTTCCTCCTCCTCGTCCGT	0.602																																						uc003vvf.4																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2689-2691)gAg>gGg		Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.							126.0	138.0	134.0					7																	139281490		2201	4291	6492	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281490T>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2690A>G	7.37:g.139281490T>C	ENSP00000385571:p.Glu897Gly					HIPK2_uc003vvd.4_Missense_Mutation_p.E870G	p.E897G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			11	2961	-	Melanoma(164;0.205)		897			Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2690A>G		.	.	.	.	.	.	.	.	.	.	T	19.73	3.881119	0.72294	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.26067	1.76;1.76	5.41	5.41	0.78517	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.58432	D	0.999995	D;P	0.63880	0.993;0.827	D;P	0.70227	0.968;0.526	T	0.49934	-0.8886	8	0.45353	T	0.12	.	15.612	0.76733	0.0:0.0:0.0:1.0	.	897;870	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	G	897;870	ENSP00000385571:E897G;ENSP00000413724:E870G	ENSP00000385571:E897G	E	-	2	0	HIPK2	138932030	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.326000	0.79133	2.281000	0.76405	0.533000	0.62120	GAG		0.602	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
TRPV6	55503	broad.mit.edu	37	7	142571454	142571454	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:142571454A>G	ENST00000359396.3	-	13	1780	c.1535T>C	c.(1534-1536)tTc>tCc	p.F512S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	512					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCTGTCTGGAAGATGATATA	0.597																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1534-1536)tTc>tCc		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							155.0	148.0	150.0					7																	142571454		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571454A>G	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1535T>C	7.37:g.142571454A>G	ENSP00000352358:p.Phe512Ser					TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S	p.F512S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			12	1764	-	Melanoma(164;0.059)		512					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1535T>C	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111576	0.77210	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.87571	-2.27	5.43	5.43	0.79202	Ion transport (1);	0.109374	0.64402	D	0.000004	D	0.94056	0.8095	M	0.89095	3.005	0.54753	D	0.999984	D	0.76494	0.999	D	0.81914	0.995	D	0.94376	0.7600	10	0.48119	T	0.1	-35.5833	14.6626	0.68882	1.0:0.0:0.0:0.0	.	512	Q9H1D0	TRPV6_HUMAN	S	512;344	ENSP00000352358:F512S	ENSP00000310825:F344S	F	-	2	0	TRPV6	142281576	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.918000	0.63376	2.043000	0.60533	0.533000	0.62120	TTC		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
SLCO5A1	81796	broad.mit.edu	37	8	70594552	70594552	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:70594552T>C	ENST00000260126.4	-	7	2355	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N495S|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.N550S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	550	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCTGTCAGATTCCTATGGGG	0.403																																						uc003xyl.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1648-1650)aAt>aGt		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							133.0	122.0	125.0					8																	70594552		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594552T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1649A>G	8.37:g.70594552T>C	ENSP00000260126:p.Asn550Ser					SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S	p.N550S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2356	-	Breast(64;0.0654)		550			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1649A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783494	0.90282	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.62639	0.01;0.01;0.01	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.38326	U	0.001722	T	0.67163	0.2864	N	0.21097	0.63	0.58432	D	0.999997	D;P;P	0.69078	0.997;0.947;0.529	D;P;B	0.69142	0.962;0.634;0.112	T	0.65990	-0.6034	10	0.32370	T	0.25	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	495;550;550	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	S	550;550;495	ENSP00000260126:N550S;ENSP00000434422:N550S;ENSP00000431611:N495S	ENSP00000260126:N550S	N	-	2	0	SLCO5A1	70757106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.985000	0.88162	2.317000	0.78254	0.459000	0.35465	AAT		0.403	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
FBXO43	286151	broad.mit.edu	37	8	101153144	101153144	+	Silent	SNP	T	T	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:101153144T>G	ENST00000428847.2	-	2	1654	c.1338A>C	c.(1336-1338)gtA>gtC	p.V446V		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	446					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAGCTCATGTACCAATTGCA	0.433																																						uc003yjd.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1336-1338)gtA>gtC		Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.							142.0	133.0	136.0					8																	101153144		1849	4101	5950	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101153144T>G	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1338A>C	8.37:g.101153144T>G						FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V	p.V446V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		1	2074	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		446						Silent	SNP	ENST00000428847.2	37	c.1338A>C	CCDS47904.1																																																																																				0.433	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
FZD6	8323	broad.mit.edu	37	8	104337555	104337555	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:104337555A>G	ENST00000358755.4	+	4	1538	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	FZD6_ENST00000523739.1_Silent_p.Q375Q|FZD6_ENST00000522566.1_Silent_p.Q407Q|FZD6_ENST00000540287.1_Silent_p.Q102Q	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	407					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCCGGAACCAAGAAAAACTAA	0.408																																						uc003ylh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1219-1221)caA>caG		Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.							154.0	149.0	150.0					8																	104337555		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337555A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1221A>G	8.37:g.104337555A>G						FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q	p.Q407Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	1511	+			407					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1221A>G	CCDS6298.1																																																																																				0.408	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
EMC2	9694	broad.mit.edu	37	8	109468130	109468130	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:109468130A>G	ENST00000220853.3	+	5	369	c.334A>G	c.(334-336)Agg>Ggg	p.R112G		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	112						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GCTATATGATAGGATTTTACA	0.234																																						uc003ymw.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15						c.(334-336)Agg>Ggg		Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.							18.0	21.0	20.0					8																	109468130		2125	4144	6269	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109468130A>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.334A>G	8.37:g.109468130A>G	ENSP00000220853:p.Arg112Gly						p.R112G	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		4	369	+			112					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.334A>G	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.47|12.47	1.948537|1.948537	0.34377|0.34377	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000519642|ENST00000220853	.|T	.|0.68331	.|-0.32	5.62|5.62	1.45|1.45	0.22620|0.22620	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.121562	.|0.56097	.|D	.|0.000033	T|T	0.42131|0.42131	0.1189|0.1189	N|N	0.05124|0.05124	-0.11|-0.11	0.44424|0.44424	D|D	0.997345|0.997345	.|B	.|0.09022	.|0.002	.|B	.|0.17433	.|0.018	T|T	0.15292|0.15292	-1.0442|-1.0442	5|10	.|0.38643	.|T	.|0.18	-6.2217|-6.2217	10.2295|10.2295	0.43247|0.43247	0.4458:0.484:0.0:0.0702|0.4458:0.484:0.0:0.0702	.|.	.|112	.|Q15006	.|TTC35_HUMAN	M|G	59|112	.|ENSP00000220853:R112G	.|ENSP00000220853:R112G	I|R	+|+	3|1	3|2	TTC35|TTC35	109537306|109537306	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.742000|0.742000	0.26216|0.26216	0.367000|0.367000	0.24454|0.24454	-0.321000|-0.321000	0.08615|0.08615	ATA|AGG		0.234	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
TAF2	6873	broad.mit.edu	37	8	120744252	120744252	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:120744252T>C	ENST00000378164.2	-	26	3810	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1171	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTACTGTCATGCTTATGCTT	0.458																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3511-3513)cAt>cGt		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							485.0	400.0	429.0					8																	120744252		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120744252T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3512A>G	8.37:g.120744252T>C	ENSP00000367406:p.His1171Arg						p.H1171R	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	3782	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1171			His-rich.|Lys-rich.		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3512A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964008	0.34659	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.62232	0.92;0.04	6.02	3.67	0.42095	.	0.053480	0.85682	N	0.000000	T	0.43122	0.1233	L	0.29908	0.895	0.52501	D	0.999955	B	0.33694	0.421	B	0.26864	0.074	T	0.17745	-1.0359	10	0.27082	T	0.32	-8.156	8.538	0.33375	0.0:0.1494:0.0:0.8506	.	1171	Q6P1X5	TAF2_HUMAN	R	1171;347	ENSP00000367406:H1171R;ENSP00000436750:H347R	ENSP00000367406:H1171R	H	-	2	0	TAF2	120813433	1.000000	0.71417	0.074000	0.20217	0.938000	0.57974	4.403000	0.59729	0.527000	0.28560	0.528000	0.53228	CAT		0.458	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
SLC35D2	11046	broad.mit.edu	37	9	99084300	99084300	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:99084300G>A	ENST00000253270.7	-	11	956	c.894C>T	c.(892-894)aaC>aaT	p.N298N	SLC35D2_ENST00000375259.4_Silent_p.N210N	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	298					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCTACAAAGTTTAACAAAG	0.343																																						uc004awc.3																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(892-894)aaC>aaT		Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.							78.0	84.0	82.0					9																	99084300		2203	4300	6503	SO:0001819	synonymous_variant	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99084300G>A	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.894C>T	9.37:g.99084300G>A						SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N	p.N298N	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN			10	970	-		Acute lymphoblastic leukemia(62;0.0167)	298					O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	ENST00000253270.7	37	c.894C>T	CCDS6717.1																																																																																				0.343	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1		
RALGDS	5900	broad.mit.edu	37	9	135983521	135983521	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:135983521G>T	ENST00000372050.3	-	6	1072	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.L422M|RALGDS_ENST00000393157.3_Missense_Mutation_p.L350M|RALGDS_ENST00000372047.3_Missense_Mutation_p.L339M|RALGDS_ENST00000372062.3_Missense_Mutation_p.L322M|RALGDS_ENST00000393160.3_Missense_Mutation_p.L296M	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	351					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGGCTCCAGCTCTAGAGTT	0.582			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1051-1053)Ctg>Atg		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.							62.0	65.0	64.0					9																	135983521		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135983521G>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1051C>A	9.37:g.135983521G>T	ENSP00000361120:p.Leu351Met					RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	p.L351M	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	5	1071	-			351					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1051C>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279004	0.59758	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.39056	1.59;1.1;1.6;1.58;1.75;1.1	4.88	3.98	0.46160	Ras guanine nucleotide exchange factor, domain (1);	1.713420	0.02859	N	0.130083	T	0.60676	0.2287	L	0.46157	1.445	0.18873	N	0.999989	D;D;D;D;D;D;D;D	0.76494	0.965;0.998;0.999;0.996;0.994;0.998;0.998;0.998	P;D;D;P;P;D;D;D	0.80764	0.748;0.986;0.994;0.804;0.876;0.986;0.986;0.986	T	0.38415	-0.9662	10	0.56958	D	0.05	.	9.6494	0.39888	0.0991:0.0:0.9009:0.0	.	422;322;351;339;296;350;339;351	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	M	351;339;296;120;350;422;322	ENSP00000361120:L351M;ENSP00000361117:L339M;ENSP00000376867:L296M;ENSP00000376864:L350M;ENSP00000437518:L422M;ENSP00000361132:L322M	ENSP00000361117:L339M	L	-	1	2	RALGDS	134973342	0.112000	0.22096	0.091000	0.20842	0.022000	0.10575	2.706000	0.47135	1.383000	0.46405	0.655000	0.94253	CTG		0.582	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
ATRX	546	broad.mit.edu	37	X	76849273	76849273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:76849273delC	ENST00000373344.5	-	26	6217	c.6003delG	c.(6001-6003)tggfs	p.W2001fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.W1963fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2001					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCTTTGTACCAGTCTGGAG	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145	GRCh37	CS081873	ATRX	S		c.(6001-6003)tggfs		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						72.0	66.0	68.0					X																	76849273		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849273delC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6003delG	X.37:g.76849273delC	ENSP00000362441:p.Trp2001fs					ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs	p.W2001fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6235	-			2001					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6003delG	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
AFF2	2334	broad.mit.edu	37	X	147733555	147733555	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:147733555G>T	ENST00000370460.2	+	2	562	c.83G>T	c.(82-84)aGg>aTg	p.R28M	AFF2_ENST00000370458.1_Missense_Mutation_p.R28M|AFF2_ENST00000370457.5_Missense_Mutation_p.R28M|AFF2_ENST00000342251.3_Missense_Mutation_p.R28M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	28					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAAAAAAAGGGAATGGGAG	0.363																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(82-84)aGg>aTg		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							184.0	176.0	179.0					X																	147733555		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733555G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.83G>T	X.37:g.147733555G>T	ENSP00000359489:p.Arg28Met					AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M	p.R28M	NM_002025	NP_002016	P51816	AFF2_HUMAN			1	562	+	Acute lymphoblastic leukemia(192;6.56e-05)		28					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.83G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887518	0.72410	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.62	3.5	0.40072	.	0.128198	0.49916	D	0.000131	T	0.66519	0.2797	L	0.46819	1.47	0.80722	D	1	P;P;P;P;P;P	0.48640	0.892;0.892;0.892;0.892;0.912;0.913	P;P;P;P;P;P	0.55222	0.614;0.614;0.614;0.614;0.733;0.771	T	0.67007	-0.5779	10	0.87932	D	0	.	4.4596	0.11659	0.6141:0.0:0.3859:0.0	.	28;28;28;28;28;28	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	M	28	ENSP00000359489:R28M;ENSP00000359486:R28M;ENSP00000345459:R28M;ENSP00000359487:R28M	ENSP00000345459:R28M	R	+	2	0	AFF2	147541247	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.911000	0.56378	1.064000	0.40671	0.594000	0.82650	AGG		0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
