#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ANK3	288	hgsc.bcm.edu;broad.mit.edu	37	10	61834572	61834572	+	Missense_Mutation	SNP	C	C	T	rs146929899	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:61834572C>T	ENST00000280772.2	-	37	6258	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2023					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGAGGCGGCTTTTGCT	0.418													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20047	0.0		0.0	False		,,,				2504	0.0															0								C	,,,THR/ALA	0,4406		0,0,2203	84.0	84.0	84.0		,,,6067	2.2	0.9	10	dbSNP_134	84	4,8596	3.0+/-9.4	0,4,4296	yes	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,,,benign	,,,2023/4378	61834572	4,13002	2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6067G>A	10.37:g.61834572C>T	ENSP00000280772:p.Ala2023Thr		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.119	-0.655728	0.03480	0.0	4.65E-4	ENSG00000151150	ENST00000280772	T	0.56611	0.45	5.45	2.22	0.28083	.	0.204155	0.24195	U	0.040673	T	0.21062	0.0507	N	0.02011	-0.69	0.36190	D	0.850046	B	0.09022	0.002	B	0.04013	0.001	T	0.06552	-1.0820	10	0.23891	T	0.37	.	6.2517	0.20850	0.1346:0.5802:0.0:0.2852	.	2023	Q12955	ANK3_HUMAN	T	2023	ENSP00000280772:A2023T	ENSP00000280772:A2023T	A	-	1	0	ANK3	61504578	0.001000	0.12720	0.910000	0.35882	0.925000	0.55904	-0.034000	0.12225	0.675000	0.31264	0.655000	0.94253	GCC		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		9	83	9	83
LMNTD2	256329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	557018	557018	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:557018C>T	ENST00000329451.3	-	8	855	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		265										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCACTCCACGGTCTTGTGA	0.672																																																0													26.0	28.0	27.0					11																	557018		2199	4298	6497	SO:0001583	missense	0																														ENST00000329451.3:c.793G>A	11.37:g.557018C>T	ENSP00000331167:p.Val265Met			Missense_Mutation	SNP	ENST00000329451.3	37	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380367	0.42207	.	.	ENSG00000185522	ENST00000329451;ENST00000441853	T;T	0.51071	0.72;0.72	3.86	2.94	0.34122	.	0.222610	0.22438	N	0.060050	T	0.46425	0.1392	N	0.24115	0.695	0.23113	N	0.998277	D	0.71674	0.998	P	0.59487	0.858	T	0.26467	-1.0102	10	0.66056	D	0.02	-18.3954	8.9013	0.35497	0.0:0.6812:0.3187:0.0	.	265	Q8IXW0	CK035_HUMAN	M	265;272	ENSP00000331167:V265M;ENSP00000393529:V272M	ENSP00000331167:V265M	V	-	1	0	C11orf35	547018	0.005000	0.15991	0.528000	0.27938	0.009000	0.06853	0.352000	0.20113	0.978000	0.38470	0.485000	0.47835	GTG		0.672	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			9	5	9	5
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	1271146	1271146	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:1271146G>A	ENST00000529681.1	+	31	13094	c.13036G>A	c.(13036-13038)Gcc>Acc	p.A4346T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4349T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4346	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCGTGGCCACCATGTC	0.627																																																0													165.0	184.0	178.0					11																	1271146		2164	4242	6406	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13036G>A	11.37:g.1271146G>A	ENSP00000436812:p.Ala4346Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	5.756	0.323969	0.10900	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16597	2.33;2.52	1.95	-0.562	0.11781	.	.	.	.	.	T	0.13628	0.0330	L	0.59436	1.845	0.09310	N	1	P;P	0.51933	0.898;0.949	B;B	0.36845	0.137;0.234	T	0.17653	-1.0362	9	0.87932	D	0	.	6.6332	0.22869	0.4142:0.0:0.5858:0.0	.	4819;4349	A7Y9J9;E9PBJ0	.;.	T	4346;4349;4290;4196;125	ENSP00000436812:A4346T;ENSP00000415793:A4349T	ENSP00000343037:A4290T	A	+	1	0	MUC5B	1227722	0.003000	0.15002	0.003000	0.11579	0.052000	0.14988	0.159000	0.16442	-0.102000	0.12197	0.184000	0.17185	GCC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		24	166	24	166
TMEM132A	54972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	60698058	60698058	+	Missense_Mutation	SNP	C	C	T	rs571711270		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:60698058C>T	ENST00000453848.2	+	5	1101	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R315C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	315						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAAGCTGGACCGCTTCAAGGG	0.637																																																0													78.0	81.0	80.0					11																	60698058		2203	4299	6502	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.943C>T	11.37:g.60698058C>T	ENSP00000405823:p.Arg315Cys		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998726	0.74818	.	.	ENSG00000006118	ENST00000544065;ENST00000444690;ENST00000453848;ENST00000005286	T;T;T	0.13657	2.74;2.57;2.57	5.4	4.44	0.53790	.	0.219859	0.30771	N	0.008901	T	0.29061	0.0722	L	0.47716	1.5	0.43782	D	0.996311	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	P;D;P;P	0.74674	0.804;0.984;0.809;0.736	T	0.00673	-1.1616	10	0.87932	D	0	.	13.396	0.60853	0.2353:0.7647:0.0:0.0	.	304;65;315;315	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	C	53;65;315;315	ENSP00000442754:R53C;ENSP00000405823:R315C;ENSP00000005286:R315C	ENSP00000005286:R315C	R	+	1	0	TMEM132A	60454634	0.987000	0.35691	1.000000	0.80357	0.980000	0.70556	1.326000	0.33735	2.704000	0.92352	0.655000	0.94253	CGC		0.637	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		78	97	78	97
SLC22A12	116085	hgsc.bcm.edu;broad.mit.edu	37	11	64360337	64360337	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:64360337C>T	ENST00000377574.1	+	2	1236	c.489C>T	c.(487-489)tgC>tgT	p.C163C	SLC22A12_ENST00000377572.1_Silent_p.C163C|SLC22A12_ENST00000336464.7_Silent_p.C163C|SLC22A12_ENST00000377567.2_Silent_p.C163C|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	163					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTGCTGCGTGCGGCCCTGCCT	0.627																																																0													101.0	87.0	92.0					11																	64360337		2201	4297	6498	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.489C>T	11.37:g.64360337C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																				0.627	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		5	105	5	105
RELA	5970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	65429217	65429217	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:65429217T>C	ENST00000406246.3	-	4	537	c.276A>G	c.(274-276)ggA>ggG	p.G92G	RELA_ENST00000525693.1_Silent_p.G92G|RELA_ENST00000308639.9_Silent_p.G92G	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	92	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGTCCTTTCCTACAAGCT	0.617																																																0													88.0	74.0	79.0					11																	65429217		2201	4297	6498	SO:0001819	synonymous_variant	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.276A>G	11.37:g.65429217T>C			Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	CCDS31609.1																																																																																				0.617	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		14	86	14	86
ALDH3B2	222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	67430801	67430801	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:67430801A>G	ENST00000349015.3	-	10	1481	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L348P	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	348					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GGGGGCGAGCAGGCAGGTGCG	0.617																																																0													88.0	81.0	83.0					11																	67430801		2200	4294	6494	SO:0001583	missense	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.1043T>C	11.37:g.67430801A>G	ENSP00000255084:p.Leu348Pro		Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.95|18.95	3.731586|3.731586	0.69189|0.69189	.|.	.|.	ENSG00000132746|ENSG00000132746	ENST00000531248|ENST00000530069;ENST00000349015	.|D;D	.|0.85411	.|-1.98;-1.98	3.64|3.64	3.64|3.64	0.41730|0.41730	.|Aldehyde/histidinol dehydrogenase (1);	.|0.275715	.|0.33854	.|U	.|0.004495	D|D	0.87325|0.87325	0.6149|0.6149	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.88428|0.88428	0.3033|0.3033	5|10	.|0.87932	.|D	.|0	.|.	12.3739|12.3739	0.55269|0.55269	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|348	.|P48448	.|AL3B2_HUMAN	R|P	77|348	.|ENSP00000431595:L348P;ENSP00000255084:L348P	.|ENSP00000255084:L348P	C|L	-|-	1|2	0|0	ALDH3B2|ALDH3B2	67187377|67187377	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.669000|0.669000	0.39330|0.39330	8.920000|8.920000	0.92779|0.92779	1.643000|1.643000	0.50594|0.50594	0.402000|0.402000	0.26972|0.26972	TGC|CTG		0.617	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		27	38	27	38
SLC2A14	144195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7982600	7982600	+	Missense_Mutation	SNP	C	C	T	rs374655537		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:7982600C>T	ENST00000543909.1	-	10	1103	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458																																																1	Substitution - Missense(1)	lung(1)											58.0	57.0	58.0					12																	7982600		2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.344G>A	12.37:g.7982600C>T	ENSP00000440480:p.Arg115His		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.059160	0.55325	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266	T;T;T;T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	3.11	3.11	0.35812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054876	0.64402	D	0.000001	D	0.88295	0.6398	H	0.96460	3.825	0.53005	D	0.999969	P;B;B;P	0.44380	0.732;0.124;0.215;0.834	B;B;B;P	0.47075	0.132;0.082;0.073;0.536	D	0.91128	0.4935	10	0.87932	D	0	.	12.0079	0.53270	0.0:1.0:0.0:0.0	.	130;6;92;115	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	92;115;92;115;6;6;130;92;92;92;115;115	ENSP00000340450:R92H;ENSP00000440480:R115H;ENSP00000407287:R92H;ENSP00000379834:R115H;ENSP00000440492:R6H;ENSP00000443903:R6H;ENSP00000445929:R130H;ENSP00000440043:R92H;ENSP00000438312:R92H;ENSP00000443217:R92H;ENSP00000440044:R115H;ENSP00000437653:R115H	ENSP00000340450:R92H	R	-	2	0	SLC2A14	7873867	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	6.902000	0.75699	1.430000	0.47334	0.460000	0.39030	CGC		0.458	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		11	42	11	42
PMEL	6490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	56348103	56348103	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56348103T>C	ENST00000548747.1	-	11	2543	c.1881A>G	c.(1879-1881)gtA>gtG	p.V627V	PMEL_ENST00000552882.1_Silent_p.V627V|PMEL_ENST00000539511.1_Silent_p.V541V|PMEL_ENST00000536427.1_Silent_p.V592V|PMEL_ENST00000548493.1_Silent_p.V627V|PMEL_ENST00000550447.1_Silent_p.V256V|PMEL_ENST00000550464.1_Silent_p.V541V|PMEL_ENST00000449260.2_Silent_p.V634V|PMEL_ENST00000360714.4_Silent_p.V634V			P40967	PMEL_HUMAN	premelanosome protein	627					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAACTGGGGTACGGAGAAGT	0.532																																																0													188.0	162.0	171.0					12																	56348103		2203	4300	6503	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1881A>G	12.37:g.56348103T>C			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	CCDS8897.1																																																																																				0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		28	61	28	61
LRRC16B	90668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	24531941	24531941	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:24531941G>C	ENST00000342740.5	+	29	2746	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	864						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGCTAAGGACGCTGTCAG	0.627																																																0													55.0	59.0	58.0					14																	24531941		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2592G>C	14.37:g.24531941G>C	ENSP00000340467:p.Arg864Ser		Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483697	0.44147	.	.	ENSG00000186648	ENST00000342740	T	0.15834	2.39	5.27	2.47	0.30058	.	0.124219	0.37304	N	0.002160	T	0.09379	0.0231	N	0.22421	0.69	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.26087	-1.0113	10	0.15499	T	0.54	-4.7865	7.5393	0.27729	0.2715:0.0:0.7285:0.0	.	864	Q8ND23	LR16B_HUMAN	S	864	ENSP00000340467:R864S	ENSP00000340467:R864S	R	+	3	2	LRRC16B	23601781	0.973000	0.33851	0.993000	0.49108	0.989000	0.77384	0.472000	0.22116	0.232000	0.21100	0.561000	0.74099	AGG		0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		37	38	37	38
KLHL28	54813	hgsc.bcm.edu;broad.mit.edu	37	14	45403686	45403686	+	Silent	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45403686T>C	ENST00000396128.4	-	3	1094	c.975A>G	c.(973-975)ggA>ggG	p.G325G	KLHL28_ENST00000355081.2_Silent_p.G339G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	325										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAACGCATATTCCAAATTCAT	0.373																																																0													68.0	65.0	66.0					14																	45403686		2203	4300	6503	SO:0001819	synonymous_variant	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.975A>G	14.37:g.45403686T>C			Q0VAL5	Silent	SNP	ENST00000396128.4	37	CCDS9680.1																																																																																				0.373	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			4	54	4	54
FANCM	57697	hgsc.bcm.edu;broad.mit.edu	37	14	45645432	45645432	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45645432T>G	ENST00000267430.5	+	14	3560	c.3475T>G	c.(3475-3477)Tta>Gta	p.L1159V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1133V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1159					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGAATCTTTACCTGTGTC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0													109.0	120.0	116.0					14																	45645432		2202	4300	6502	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3475T>G	14.37:g.45645432T>G	ENSP00000267430:p.Leu1159Val		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.687|0.687	-0.796025|-0.796025	0.02862|0.02862	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.19669	.|2.73;2.73;2.13	5.31|5.31	-1.94|-1.94	0.07571|0.07571	.|.	.|2.720500	.|0.00901	.|N	.|0.002349	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22276	.|0.067;0.067	.|B;B	.|0.23716	.|0.035;0.048	T|T	0.11665|0.11665	-1.0578|-1.0578	5|10	.|0.30078	.|T	.|0.28	.|.	0.698|0.698	0.00902|0.00902	0.4176:0.1635:0.1284:0.2904|0.4176:0.1635:0.1284:0.2904	.|.	.|1133;1159	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	C|V	91|1159;1133;675	.|ENSP00000267430:L1159V;ENSP00000442493:L1133V;ENSP00000452033:L675V	.|ENSP00000267430:L1159V	F|L	+|+	2|1	0|2	FANCM|FANCM	44715182|44715182	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.371000|-0.371000	0.07513|0.07513	-0.510000|-0.510000	0.06523|0.06523	0.482000|0.482000	0.46254|0.46254	TTT|TTA		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		8	111	8	111
MCTP2	55784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	95013576	95013576	+	Missense_Mutation	SNP	C	C	T	rs570221748		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:95013576C>T	ENST00000357742.4	+	20	2375	c.2375C>T	c.(2374-2376)aCg>aTg	p.T792M	MCTP2_ENST00000451018.3_Missense_Mutation_p.T737M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	792					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAACTGGACGGTCCCCTTC	0.403																																																0													166.0	162.0	164.0					15																	95013576		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2375C>T	15.37:g.95013576C>T	ENSP00000350377:p.Thr792Met		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976976	0.74360	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.68765	-0.35;-0.17	5.32	5.32	0.75619	Phosphoribosyltransferase C-terminal (1);	0.109289	0.64402	D	0.000005	T	0.81508	0.4837	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.97;0.986	D	0.83388	0.0016	10	0.72032	D	0.01	.	14.9309	0.70914	0.0:0.8573:0.1426:0.0	.	737;792	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	M	737;792	ENSP00000395109:T737M;ENSP00000350377:T792M	ENSP00000350377:T792M	T	+	2	0	MCTP2	92814580	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.906000	0.69900	2.645000	0.89757	0.650000	0.86243	ACG		0.403	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		44	50	44	50
YWHAE	7531	hgsc.bcm.edu;broad.mit.edu	37	17	1268267	1268267	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:1268267C>G	ENST00000264335.8	-	2	417	c.150G>C	c.(148-150)aaG>aaC	p.K50N	YWHAE_ENST00000575977.1_Missense_Mutation_p.K50N|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.K28N	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	50					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CAATCACATTCTTATATGCAA	0.423			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																																Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	0													162.0	151.0	155.0					17																	1268267		2203	4300	6503	SO:0001583	missense	7531			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.150G>C	17.37:g.1268267C>G	ENSP00000264335:p.Lys50Asn		B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517158	0.64634	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.62364	0.03	4.95	2.7	0.31948	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.81522	0.4840	H	0.95645	3.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.81378	-0.0960	10	0.87932	D	0	-6.6546	6.5305	0.22324	0.0:0.2955:0.0:0.7045	.	50	P62258	1433E_HUMAN	N	50;28	ENSP00000264335:K50N	ENSP00000264335:K50N	K	-	3	2	YWHAE	1215017	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.364000	0.44187	0.860000	0.35481	-0.484000	0.04775	AAG		0.423	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		5	86	5	86
TP53	7157	hgsc.bcm.edu;broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	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;	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	18	12	18
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G	rs530941076		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7578191A>G	ENST00000269305.4	-	6	847	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000420246.2_Missense_Mutation_p.Y220H|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	GGCGGCTCATAGGGCACCACC	0.552		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)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		16888	0.0		0.0	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Substitution - Missense(22)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	breast(10)|biliary_tract(6)|endometrium(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|skin(3)|stomach(2)|central_nervous_system(2)|urinary_tract(2)|lung(2)|liver(2)|ovary(1)											105.0	96.0	99.0					17																	7578191		2203	4300	6503	SO:0001583	missense	7157	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;	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.658T>C	17.37:g.7578191A>G	ENSP00000269305:p.Tyr220His		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245298	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.28	5.28	0.74379	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	0.99729	0.9894	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.995;1.0;0.999;0.998;1.0	D	0.97028	0.9748	10	0.87932	D	0	-1.87	13.4753	0.61306	1.0:0.0:0.0:0.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220H;ENSP00000352610:Y220H;ENSP00000269305:Y220H;ENSP00000398846:Y220H;ENSP00000391127:Y220H;ENSP00000391478:Y220H;ENSP00000425104:Y88H;ENSP00000423862:Y127H	ENSP00000269305:Y220H	Y	-	1	0	TP53	7518916	1.000000	0.71417	0.614000	0.29051	0.991000	0.79684	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	TAT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	29	17	29
KRT28	162605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	38954585	38954585	+	Nonsense_Mutation	SNP	G	G	A	rs200021509		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:38954585G>A	ENST00000306658.7	-	3	657	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGACTCGCCGTAATCCG	0.498																																					Melanoma(19;789 869 15380 26882 39836)											0													94.0	101.0	99.0					17																	38954585		2203	4300	6503	SO:0001587	stop_gained	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.592C>T	17.37:g.38954585G>A	ENSP00000305263:p.Arg198*			Nonsense_Mutation	SNP	ENST00000306658.7	37	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401605	0.83120	.	.	ENSG00000173908	ENST00000306658	.	.	.	5.32	4.34	0.51931	.	0.000000	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9927	0.58630	0.0:0.0:0.5723:0.4277	.	.	.	.	X	198	.	ENSP00000305263:R198X	R	-	1	2	KRT28	36208111	0.000000	0.05858	0.417000	0.26559	0.467000	0.32768	0.015000	0.13355	1.339000	0.45563	0.561000	0.74099	CGA		0.498	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		9	80	9	80
KRT31	3881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39553720	39553720	+	Silent	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:39553720G>C	ENST00000251645.2	-	1	124	c.72C>G	c.(70-72)ccC>ccG	p.P24P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	24	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGTGGCAGCTGGGGGGCACGC	0.662																																																0													30.0	34.0	33.0					17																	39553720		2203	4300	6503	SO:0001819	synonymous_variant	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.72C>G	17.37:g.39553720G>C			Q9UE12	Silent	SNP	ENST00000251645.2	37	CCDS11391.1																																																																																				0.662	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		32	47	32	47
MED26	9441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:16689204G>A	ENST00000263390.3	-	2	351	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CTC-429P9.4_ENST00000600705.1_3'UTR|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A38V|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	30	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCCAGCACCGCCACCATGTT	0.557																																																0													110.0	95.0	100.0					19																	16689204		2203	4300	6503	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.89C>T	19.37:g.16689204G>A	ENSP00000263390:p.Ala30Val		A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349228	0.61183	.	.	ENSG00000105085	ENST00000263390;ENST00000453758	.	.	.	4.45	4.45	0.53987	Transcription factor IIS, N-terminal (3);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.123680	0.53938	D	0.000058	T	0.46889	0.1416	N	0.14661	0.345	0.53005	D	0.999961	D	0.62365	0.991	P	0.52343	0.696	T	0.45469	-0.9259	9	0.30854	T	0.27	-21.2882	16.4453	0.83925	0.0:0.0:1.0:0.0	.	30	O95402	MED26_HUMAN	V	30	.	ENSP00000263390:A30V	A	-	2	0	MED26	16550204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.232000	0.78116	2.196000	0.70406	0.549000	0.68633	GCG		0.557	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		32	46	32	46
GMIP	51291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	19745858	19745858	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:19745858T>G	ENST00000203556.4	-	16	1862	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	GMIP_ENST00000587238.1_Silent_p.I549I|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Silent_p.I546I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	575	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACGGTGTTCTATCTCAGCCG	0.582																																																0													88.0	82.0	84.0					19																	19745858		2203	4300	6503	SO:0001819	synonymous_variant	51291			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1725A>C	19.37:g.19745858T>G			A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	CCDS12408.1																																																																																				0.582	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		60	84	60	84
EML2	24139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:46124545C>T	ENST00000245925.3	-	11	1092	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	EML2_ENST00000587152.1_Missense_Mutation_p.G549R|EML2_ENST00000536630.1_Missense_Mutation_p.G495R|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.G348R	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	348	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627																																																0													118.0	100.0	107.0					19																	46124545		2203	4300	6503	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1042G>A	19.37:g.46124545C>T	ENSP00000245925:p.Gly348Arg		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923288	0.33908	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.32023	1.47;1.58;4.5	3.49	2.44	0.29823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.392037	0.25324	N	0.031482	T	0.52386	0.1731	M	0.84326	2.69	0.33485	D	0.587964	D;D;D;D	0.89917	1.0;0.999;0.995;0.997	D;D;P;D	0.69654	0.965;0.918;0.571;0.918	T	0.64888	-0.6301	9	.	.	.	-2.638	8.7484	0.34600	0.0:0.8837:0.0:0.1163	.	348;514;495;348	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	R	495;348;506	ENSP00000442365:G495R;ENSP00000245925:G348R;ENSP00000382503:G506R	.	G	-	1	0	EML2	50816385	0.076000	0.21285	0.896000	0.35187	0.019000	0.09904	1.196000	0.32198	0.677000	0.31305	-0.368000	0.07277	GGA		0.627	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		35	66	35	66
HRC	3270	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	49656971	49656971	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552																																					Melanoma(37;75 1097 24567 25669 30645)											0													107.0	86.0	93.0					19																	49656971		2203	4300	6503	SO:0001819	synonymous_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1524C>T	19.37:g.49656971G>A			Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																				0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		12	37	12	37
PRDM2	7799	hgsc.bcm.edu;broad.mit.edu	37	1	14107261	14107261	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:14107261C>G	ENST00000235372.7	+	8	3827	c.2971C>G	c.(2971-2973)Cct>Gct	p.P991A	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P790A|PRDM2_ENST00000311066.5_Missense_Mutation_p.P991A|PRDM2_ENST00000343137.4_Missense_Mutation_p.P790A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	991	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCCTCCTTCCTACCGTACC	0.602																																																0													127.0	116.0	120.0					1																	14107261		2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2971C>G	1.37:g.14107261C>G	ENSP00000235372:p.Pro991Ala		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553779	0.45487	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01804	4.73;4.63;4.63;4.63	5.97	5.05	0.67936	.	0.052795	0.85682	N	0.000000	T	0.02418	0.0074	M	0.67953	2.075	0.44175	D	0.996987	B;B;B	0.25048	0.041;0.071;0.117	B;B;B	0.23018	0.019;0.019;0.043	T	0.26155	-1.0111	10	0.02654	T	1	.	10.8991	0.47040	0.1468:0.7118:0.1413:0.0	.	849;991;991	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	991;991;991;790;790	ENSP00000235372:P991A;ENSP00000312352:P991A;ENSP00000411103:P790A;ENSP00000341621:P790A	ENSP00000235372:P991A	P	+	1	0	PRDM2	13979848	0.869000	0.29996	0.744000	0.31058	0.910000	0.53928	3.469000	0.53093	1.512000	0.48834	0.655000	0.94253	CCT		0.602	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		8	122	8	122
EPHA8	2046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657																																																2	Substitution - Missense(2)	lung(2)											39.0	39.0	39.0					1																	22913059		2203	4300	6503	SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.910G>A	1.37:g.22913059G>A	ENSP00000166244:p.Ala304Thr		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.002347	0.35320	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.28454	1.61;4.97;4.97	4.05	2.16	0.27623	.	0.219099	0.37906	N	0.001894	T	0.18676	0.0448	L	0.56340	1.77	0.32302	N	0.564859	P;B	0.41131	0.739;0.27	B;B	0.22880	0.041;0.042	T	0.26326	-1.0106	10	0.44086	T	0.13	.	5.9907	0.19460	0.0911:0.0:0.575:0.3339	.	304;304	P29322;P29322-2	EPHA8_HUMAN;.	T	304	ENSP00000166244:A304T;ENSP00000363775:A304T;ENSP00000440274:A304T	ENSP00000166244:A304T	A	+	1	0	EPHA8	22785646	0.986000	0.35501	0.811000	0.32455	0.679000	0.39708	1.983000	0.40648	0.494000	0.27859	-0.372000	0.07161	GCC		0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		10	68	10	68
SYTL1	84958	hgsc.bcm.edu;broad.mit.edu	37	1	27674019	27674019	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:27674019A>T	ENST00000543823.1	+	2	761	c.299A>T	c.(298-300)gAc>gTc	p.D100V	SYTL1_ENST00000318074.5_Missense_Mutation_p.D100V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	100					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCGGCTCTGACCTTGTCCGA	0.642																																																0													63.0	59.0	60.0					1																	27674019		2203	4300	6503	SO:0001583	missense	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.299A>T	1.37:g.27674019A>T	ENSP00000440704:p.Asp100Val		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035687	0.75617	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.40756	1.09;1.02	4.35	4.35	0.52113	.	0.285942	0.36167	N	0.002760	T	0.67258	0.2874	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.965;0.996;0.965;0.984	T	0.73335	-0.4015	10	0.62326	D	0.03	-26.0882	12.6449	0.56729	1.0:0.0:0.0:0.0	.	100;100;100;100	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	V	100	ENSP00000316464:D100V;ENSP00000440704:D100V	ENSP00000316464:D100V	D	+	2	0	SYTL1	27546606	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.898000	0.69838	1.811000	0.52892	0.459000	0.35465	GAC		0.642	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		5	75	5	75
CYP4A22	284541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	47607808	47607808	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:47607808G>C	ENST00000371891.3	+	4	442	c.411G>C	c.(409-411)caG>caC	p.Q137H	CYP4A22_ENST00000371890.3_Missense_Mutation_p.Q137H|CYP4A22_ENST00000294337.3_Missense_Mutation_p.Q137H|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	137						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATGGGCAGACATGGTTCC	0.532																																					Pancreas(88;1240 1470 2099 14214 37557)											0													102.0	87.0	92.0					1																	47607808		2203	4300	6503	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.411G>C	1.37:g.47607808G>C	ENSP00000360958:p.Gln137His		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	14.98	2.697068	0.48202	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.68624	-0.34;-0.32;-0.32	1.7	0.728	0.18260	.	0.450958	0.23121	N	0.051694	T	0.70876	0.3274	M	0.71036	2.16	0.29737	N	0.837454	P;D	0.57257	0.832;0.979	P;D	0.64687	0.601;0.928	T	0.64740	-0.6336	10	0.66056	D	0.02	.	0.2426	0.00194	0.2806:0.2458:0.2665:0.2071	.	137;137	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	H	137	ENSP00000360957:Q137H;ENSP00000360958:Q137H;ENSP00000294337:Q137H	ENSP00000294337:Q137H	Q	+	3	2	CYP4A22	47380395	0.000000	0.05858	0.927000	0.36925	0.709000	0.40893	0.612000	0.24283	0.933000	0.37291	0.195000	0.17529	CAG		0.532	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		36	54	36	54
NEGR1	257194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	72163701	72163701	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:72163701A>G	ENST00000357731.5	-	4	896	c.657T>C	c.(655-657)gtT>gtC	p.V219V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Silent_p.V91V|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	219	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTGACAACAACTTTTACTT	0.348																																																0													118.0	110.0	113.0					1																	72163701		2202	4300	6502	SO:0001819	synonymous_variant	257194			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.657T>C	1.37:g.72163701A>G			Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	CCDS661.1																																																																																				0.348	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		18	16	18	16
AHCYL1	10768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	110551714	110551714	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:110551714G>A	ENST00000369799.5	+	2	546	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R13Q|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R13Q	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	60					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAAACTGGCCGAAGATCTTTG	0.433																																																0													157.0	131.0	140.0					1																	110551714		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.179G>A	1.37:g.110551714G>A	ENSP00000358814:p.Arg60Gln		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650080	0.87958	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.77358	1.58;-1.09;-1.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	N	0.22421	0.69	0.80722	D	1	B	0.32526	0.374	B	0.21151	0.033	T	0.61247	-0.7101	10	0.51188	T	0.08	-12.9214	19.8731	0.96858	0.0:0.0:1.0:0.0	.	60	O43865	SAHH2_HUMAN	Q	60;13;13	ENSP00000358814:R60Q;ENSP00000352092:R13Q;ENSP00000377238:R13Q	ENSP00000352092:R13Q	R	+	2	0	AHCYL1	110353237	1.000000	0.71417	0.952000	0.39060	0.995000	0.86356	9.843000	0.99491	2.707000	0.92482	0.650000	0.86243	CGA		0.433	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			30	71	30	71
MIA3	375056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	222801580	222801580	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:222801580A>G	ENST00000344922.5	+	4	1043	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.K340E|MIA3_ENST00000344441.6_Missense_Mutation_p.K340E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	340					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGATATGAAAACTCCAGC	0.413																																																0													95.0	88.0	90.0					1																	222801580		1842	4090	5932	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1018A>G	1.37:g.222801580A>G	ENSP00000340900:p.Lys340Glu		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378427	0.42207	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.32515	3.54;3.54;1.45	5.19	-1.44	0.08856	.	.	.	.	.	T	0.28566	0.0707	L	0.55481	1.735	0.09310	N	1	B;P	0.49090	0.063;0.919	B;P	0.44447	0.027;0.45	T	0.18366	-1.0339	9	0.66056	D	0.02	.	6.9424	0.24500	0.5122:0.1216:0.3662:0.0	.	340;340	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	E	340	ENSP00000340900:K340E;ENSP00000340587:K340E;ENSP00000341348:K340E	ENSP00000325973:K340E	K	+	1	0	MIA3	220868203	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.463000	0.06696	-0.447000	0.07138	0.377000	0.23210	AAA		0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		33	42	33	42
KRTAP10-3	386682	hgsc.bcm.edu;broad.mit.edu	37	21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A	rs373472330		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:45978112G>A	ENST00000391620.1	-	1	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	163	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697																																																0								G	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	85.0	82.0		,487	-1.4	0.3	21		82	0,8600		0,0,4300	no	intron,missense	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,163/222	45978112	1,13005	2203	4300	6503	SO:0001583	missense	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.487C>T	21.37:g.45978112G>A	ENSP00000375478:p.Arg163Cys		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	4.777	0.144469	0.09134	2.27E-4	0.0	ENSG00000212935	ENST00000391620	T	0.01484	4.84	3.53	-1.39	0.08997	.	.	.	.	.	T	0.03220	0.0094	M	0.83953	2.67	0.23249	N	0.998047	B	0.18310	0.027	B	0.10450	0.005	T	0.30534	-0.9975	9	0.54805	T	0.06	.	6.1701	0.20412	0.0997:0.0:0.4309:0.4695	.	163	P60369	KR103_HUMAN	C	163	ENSP00000375478:R163C	ENSP00000375478:R163C	R	-	1	0	KRTAP10-3	44802540	0.306000	0.24490	0.328000	0.25416	0.005000	0.04900	0.333000	0.19768	-0.063000	0.13065	-0.397000	0.06425	CGC		0.697	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			23	204	23	204
KRTAP10-12	386685	hgsc.bcm.edu;broad.mit.edu	37	21	46117612	46117612	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:46117612T>C	ENST00000400365.3	+	1	526	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	166	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						TGTGCCTGTCTGCTCTGGGGC	0.637																																																0													168.0	178.0	175.0					21																	46117612		2203	4300	6503	SO:0001583	missense	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.496T>C	21.37:g.46117612T>C	ENSP00000383216:p.Cys166Arg		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	t	6.433	0.448059	0.12223	.	.	ENSG00000189169	ENST00000400365	T	0.00922	5.54	3.49	3.49	0.39957	.	.	.	.	.	T	0.07638	0.0192	H	0.95294	3.65	0.50632	D	0.999887	D	0.89917	1.0	D	0.87578	0.998	T	0.00200	-1.1927	9	0.72032	D	0.01	.	8.6498	0.34027	0.0:0.0:0.0:1.0	.	166	P60413	KR10C_HUMAN	R	166	ENSP00000383216:C166R	ENSP00000383216:C166R	C	+	1	0	KRTAP10-12	44942040	0.998000	0.40836	0.217000	0.23759	0.015000	0.08874	3.542000	0.53625	1.331000	0.45412	0.254000	0.18369	TGC		0.637	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		165	234	165	234
CCDC116	164592	hgsc.bcm.edu;broad.mit.edu	37	22	21988388	21988388	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:21988388C>T	ENST00000292779.3	+	3	311	c.150C>T	c.(148-150)tcC>tcT	p.S50S	CCDC116_ENST00000607942.1_Silent_p.S50S	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	50										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACCCACCATCCACATGTGGCA	0.607																																																0													96.0	90.0	92.0					22																	21988388		2203	4300	6503	SO:0001819	synonymous_variant	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.150C>T	22.37:g.21988388C>T			Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																				0.607	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		11	158	11	158
MAPK1	5594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	22142614	22142614	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:22142614T>C	ENST00000215832.6	-	6	976	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	MAPK1_ENST00000398822.3_Missense_Mutation_p.Y263C|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGAAAGCAAATAGTTCCTAGC	0.338																																																0													94.0	93.0	94.0					22																	22142614		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.788A>G	22.37:g.22142614T>C	ENSP00000215832:p.Tyr263Cys		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486284	0.84854	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.45668	0.89;0.89	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.42744	1.35	0.80722	D	1	P	0.46987	0.888	P	0.47891	0.56	T	0.47156	-0.9139	10	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	263	P28482	MK01_HUMAN	C	263;251;263	ENSP00000215832:Y263C;ENSP00000381803:Y263C	ENSP00000215832:Y263C	Y	-	2	0	MAPK1	20472614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	2.302000	0.77476	0.533000	0.62120	TAT		0.338	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			30	37	30	37
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179395863	179395863	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179395863A>G	ENST00000591111.1	-	308	100780	c.100556T>C	c.(100555-100557)gTg>gCg	p.V33519A	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V26287A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26220A|TTN_ENST00000460472.2_Missense_Mutation_p.V26095A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V35160A|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32592A|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587568.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33519	Ig-like 147.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCAGGTCACAGTTGGTAC	0.512																																																0													171.0	174.0	173.0					2																	179395863		2031	4191	6222	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100556T>C	2.37:g.179395863A>G	ENSP00000465570:p.Val33519Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	19.22	3.785269	0.70337	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81978	0.4937	M	0.77406	2.37	0.42346	D	0.992352	P;P;P;P	0.50819	0.939;0.939;0.939;0.856	P;P;P;P	0.48227	0.571;0.571;0.571;0.474	D	0.85585	0.1242	9	0.87932	D	0	.	14.3178	0.66463	1.0:0.0:0.0:0.0	.	26095;26220;26287;33519	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	32592;26095;26287;26220;26092	ENSP00000343764:V32592A;ENSP00000434586:V26095A;ENSP00000340554:V26287A;ENSP00000352154:V26220A	ENSP00000340554:V26287A	V	-	2	0	TTN	179104109	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.339000	0.96797	1.782000	0.52362	0.454000	0.30748	GTG		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		93	144	93	144
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	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			13	22	13	22
TMEM110	375346	hgsc.bcm.edu;broad.mit.edu	37	3	52877766	52877766	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52877766C>T	ENST00000355083.5	-	6	734	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V197I|TMEM110_ENST00000464769.1_5'Flank	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	197						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATCAGCATGACGATGGCCAGC	0.517																																																0													189.0	166.0	174.0					3																	52877766		2203	4300	6503	SO:0001583	missense	375346			BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.589G>A	3.37:g.52877766C>T	ENSP00000347195:p.Val197Ile			Missense_Mutation	SNP	ENST00000355083.5	37	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	36	5.611091	0.96637	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.31	5.31	0.75309	.	0.145288	0.45126	U	0.000381	D	0.85660	0.5748	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	D	0.88000	0.2755	9	0.59425	D	0.04	-6.06	18.9788	0.92747	0.0:1.0:0.0:0.0	.	197;197	Q86TL2;A8MSY1	TM110_HUMAN;.	I	197	.	ENSP00000347195:V197I	V	-	1	0	TMEM110-MUSTN1;TMEM110	52852806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.491000	0.84063	0.561000	0.74099	GTC		0.517	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		10	125	10	125
TMPRSS11F	389208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	68930540	68930540	+	Missense_Mutation	SNP	T	T	C	rs145412545		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:68930540T>C	ENST00000356291.2	-	8	937	c.878A>G	c.(877-879)gAc>gGc	p.D293G	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	293	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAAGCAATGTCATTTTCATT	0.378																																																0								T	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	75.0	69.0	71.0		878	5.7	1.0	4	dbSNP_134	71	0,8600		0,0,4300	no	missense	TMPRSS11F	NM_207407.2	94	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	293/439	68930540	1,13005	2203	4300	6503	SO:0001583	missense	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.878A>G	4.37:g.68930540T>C	ENSP00000348639:p.Asp293Gly		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137303	0.77775	2.27E-4	0.0	ENSG00000198092	ENST00000356291	D	0.98947	-5.26	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000006	D	0.99477	0.9814	H	0.98664	4.295	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98231	1.0483	10	0.87932	D	0	.	12.3715	0.55258	0.0:0.0:0.0:1.0	.	293	Q6ZWK6	TM11F_HUMAN	G	293	ENSP00000348639:D293G	ENSP00000348639:D293G	D	-	2	0	TMPRSS11F	68613135	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.762000	0.55250	2.185000	0.69588	0.528000	0.53228	GAC		0.378	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		5	32	5	32
CXCL5	6374	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	74863731	74863731	+	Silent	SNP	G	G	A	rs573521158		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:74863731G>A	ENST00000296027.4	-	3	521	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	108					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.D108D(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAAGTACCCGTCCAAAATTT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17424	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	endometrium(1)											80.0	88.0	85.0					4																	74863731		2203	4300	6503	SO:0001819	synonymous_variant	6374			X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.324C>T	4.37:g.74863731G>A			Q96QE1	Silent	SNP	ENST00000296027.4	37	CCDS34006.1																																																																																				0.388	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		41	50	41	50
SEPT11	55752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	77941664	77941664	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:77941664A>G	ENST00000264893.6	+	7	995	c.794A>G	c.(793-795)gAa>gGa	p.E265G	SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Missense_Mutation_p.E265G|SEPT11_ENST00000510515.1_Missense_Mutation_p.E275G|SEPT11_ENST00000502584.1_Missense_Mutation_p.E265G|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275G	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	265	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTTGAGAATGAAAATCATTGC	0.453																																																0													88.0	88.0	88.0					4																	77941664		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.794A>G	4.37:g.77941664A>G	ENSP00000264893:p.Glu265Gly		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742675	0.89573	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.65407	0.2688	M	0.89163	3.01	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.76071	0.976;0.987;0.986	T	0.70659	-0.4811	10	0.44086	T	0.13	.	15.1435	0.72630	1.0:0.0:0.0:0.0	.	275;257;265	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	G	265;265;257;265;275;275	ENSP00000264893:E265G;ENSP00000426344:E265G;ENSP00000420839:E257G;ENSP00000424925:E265G;ENSP00000422896:E275G;ENSP00000443701:E275G	ENSP00000264893:E265G	E	+	2	0	SEPT11	78160688	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.962000	0.93254	1.975000	0.57531	0.482000	0.46254	GAA		0.453	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		10	80	10	80
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	90816198	90816198	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90816198T>C	ENST00000394980.1	+	2	395	c.76T>C	c.(76-78)Tct>Cct	p.S26P	MMRN1_ENST00000264790.2_Missense_Mutation_p.S26P|MMRN1_ENST00000394981.1_Missense_Mutation_p.S26P			Q13201	MMRN1_HUMAN	multimerin 1	26					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTAAGCATTCTTGGACTAT	0.428																																																0													96.0	103.0	101.0					4																	90816198		2203	4300	6503	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.76T>C	4.37:g.90816198T>C	ENSP00000378431:p.Ser26Pro		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310277	0.23821	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.73047	0.03;0.03;-0.71	4.67	-0.885	0.10593	.	0.873760	0.09768	N	0.758410	T	0.44095	0.1277	N	0.11255	0.115	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.001	T	0.24621	-1.0155	10	0.42905	T	0.14	.	1.0343	0.01545	0.3943:0.107:0.1282:0.3706	.	26;26	Q13201-2;Q13201	.;MMRN1_HUMAN	P	26	ENSP00000378431:S26P;ENSP00000264790:S26P;ENSP00000378432:S26P	ENSP00000264790:S26P	S	+	1	0	MMRN1	91035221	0.000000	0.05858	0.003000	0.11579	0.153000	0.21895	-0.846000	0.04336	-0.187000	0.10516	0.460000	0.39030	TCT		0.428	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		30	106	30	106
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	90833188	90833188	+	Silent	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90833188A>G	ENST00000394980.1	+	4	1156	c.837A>G	c.(835-837)aaA>aaG	p.K279K	MMRN1_ENST00000264790.2_Silent_p.K279K|MMRN1_ENST00000508372.1_Silent_p.K21K|MMRN1_ENST00000394981.1_Silent_p.K245K			Q13201	MMRN1_HUMAN	multimerin 1	279	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGGGCCGAAATGTCAACTAA	0.368																																																0													76.0	71.0	72.0					4																	90833188		2203	4299	6502	SO:0001819	synonymous_variant	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.837A>G	4.37:g.90833188A>G			Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	CCDS3635.1																																																																																				0.368	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		15	10	15	10
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	187629810	187629810	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:187629810G>A	ENST00000441802.2	-	2	1381	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	391	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAATGGCCTTTACCAT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													106.0	99.0	101.0					4																	187629810		1867	4108	5975	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1172C>T	4.37:g.187629810G>A	ENSP00000406229:p.Ala391Val			Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	3.738	-0.054074	0.07362	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	D;T	0.86865	-2.18;-0.39	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.87381	2.88	0.80722	D	1	P	0.48911	0.917	B	0.40982	0.345	D	0.85936	0.1455	10	0.21014	T	0.42	.	13.4647	0.61247	0.0746:0.0:0.9254:0.0	.	391	Q14517	FAT1_HUMAN	V	391	ENSP00000406229:A391V;ENSP00000423736:A391V	ENSP00000260147:A391V	A	-	2	0	FAT1	187866804	1.000000	0.71417	0.604000	0.28916	0.921000	0.55340	5.581000	0.67471	2.769000	0.95229	0.491000	0.48974	GCC		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	80	12	80
CDH6	1004	hgsc.bcm.edu;broad.mit.edu	37	5	31297444	31297444	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:31297444A>T	ENST00000265071.2	+	4	837	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CDH6_ENST00000514738.1_Missense_Mutation_p.Y136F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATCCAACATATGGGAACAGT	0.363																																																0													167.0	154.0	158.0					5																	31297444		2203	4300	6503	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.572A>T	5.37:g.31297444A>T	ENSP00000265071:p.Tyr191Phe		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241131	0.79912	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51574	0.7;0.7	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	N	0.17594	0.5	0.58432	D	0.999999	D;P	0.89917	1.0;0.869	D;P	0.91635	0.999;0.498	T	0.59768	-0.7392	10	0.56958	D	0.05	.	15.6969	0.77506	1.0:0.0:0.0:0.0	.	191;191	P55285;P55285-2	CADH6_HUMAN;.	F	136;191	ENSP00000424843:Y136F;ENSP00000265071:Y191F	ENSP00000265071:Y191F	Y	+	2	0	CDH6	31333201	1.000000	0.71417	0.141000	0.22245	0.862000	0.49288	7.303000	0.78871	2.182000	0.69389	0.482000	0.46254	TAT		0.363	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		8	71	8	71
DAB2	1601	hgsc.bcm.edu;broad.mit.edu	37	5	39383207	39383207	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:39383207T>G	ENST00000320816.6	-	10	1321	c.854A>C	c.(853-855)aAc>aCc	p.N285T	DAB2_ENST00000545653.1_Missense_Mutation_p.N264T|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.N264T|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	285	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGAAAGAAGTTGAGATTGGC	0.468																																																0													146.0	154.0	151.0					5																	39383207		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.854A>C	5.37:g.39383207T>G	ENSP00000313391:p.Asn285Thr		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913907	0.33815	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.38401	1.14;1.17;1.17	5.73	5.73	0.89815	.	0.170775	0.56097	D	0.000033	T	0.27278	0.0669	L	0.51422	1.61	0.29356	N	0.864986	B;B	0.25955	0.138;0.102	B;B	0.30401	0.033;0.115	T	0.36841	-0.9731	10	0.02654	T	1	-10.389	6.7099	0.23272	0.0:0.1885:0.0:0.8115	.	285;264	P98082;P98082-3	DAB2_HUMAN;.	T	285;264;264	ENSP00000313391:N285T;ENSP00000439919:N264T;ENSP00000426245:N264T	ENSP00000313391:N285T	N	-	2	0	DAB2	39418964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.280000	0.43443	2.308000	0.77769	0.533000	0.62120	AAC		0.468	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		7	116	7	116
RGMB	285704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	98129390	98129390	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:98129390C>G	ENST00000513185.1	+	3	1683	c.1247C>G	c.(1246-1248)cCc>cGc	p.P416R	RGMB_ENST00000308234.7_Missense_Mutation_p.P457R			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	416					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AATGGGACTCCCCGTGGAGGC	0.502																																																0													101.0	107.0	105.0					5																	98129390		1998	4164	6162	SO:0001583	missense	285704			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1247C>G	5.37:g.98129390C>G	ENSP00000423256:p.Pro416Arg		D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		.	.	.	.	.	.	.	.	.	.	C	3.545	-0.092822	0.07053	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.93659	-3.25;-3.26	5.34	0.894	0.19242	Repulsive guidance molecule, C-terminal (1);	0.949703	0.08910	N	0.875977	D	0.86234	0.5884	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.75042	-0.3457	10	0.54805	T	0.06	-3.5479	4.6386	0.12538	0.0:0.4763:0.1678:0.3559	.	416	Q6NW40	RGMB_HUMAN	R	457;416	ENSP00000308219:P457R;ENSP00000423256:P416R	ENSP00000308219:P457R	P	+	2	0	RGMB	98157290	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.195000	0.09546	0.225000	0.20959	0.655000	0.94253	CCC		0.502	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		13	11	13	11
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	33626884	33626884	+	Silent	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:33626884C>T	ENST00000374316.5	+	7	1675	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ITPR3_ENST00000605930.1_Silent_p.A205A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	205	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCGACAACGCCGGCTGCAAGG	0.632																																																0													66.0	63.0	64.0					6																	33626884		2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.615C>T	6.37:g.33626884C>T			Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		58	66	58	66
LGSN	51557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	63995539	63995539	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:63995539G>T	ENST00000370657.4	-	3	316	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	LGSN_ENST00000370658.5_Missense_Mutation_p.L95I			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	95					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGCCGTGGAGGTCTGTTGCT	0.418																																																0													119.0	100.0	106.0					6																	63995539		2203	4300	6503	SO:0001583	missense	51557			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.283C>A	6.37:g.63995539G>T	ENSP00000359691:p.Leu95Ile		A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986348	0.74589	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.39406	1.08;1.08	5.61	3.43	0.39272	Glutamine synthetase, beta-Grasp (3);	0.057207	0.64402	D	0.000001	T	0.26412	0.0645	L	0.29908	0.895	0.52501	D	0.999952	D;P	0.89917	1.0;0.747	D;P	0.91635	0.999;0.801	T	0.30736	-0.9968	10	0.02654	T	1	-12.0797	9.5851	0.39512	0.2007:0.0:0.7993:0.0	.	95;95	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	I	95	ENSP00000359692:L95I;ENSP00000359691:L95I	ENSP00000359691:L95I	L	-	1	0	LGSN	64053498	1.000000	0.71417	0.365000	0.25901	0.926000	0.56050	5.289000	0.65656	0.588000	0.29660	0.655000	0.94253	CTC		0.418	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		15	25	15	25
LTV1	84946	hgsc.bcm.edu;broad.mit.edu	37	6	144171327	144171327	+	Silent	SNP	A	A	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:144171327A>C	ENST00000367576.5	+	4	503	c.369A>C	c.(367-369)ggA>ggC	p.G123G		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	123						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AAGATGTTGGATTGTTAAATA	0.313																																																0													188.0	186.0	187.0					6																	144171327		2203	4300	6503	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.369A>C	6.37:g.144171327A>C			Q96JX8	Silent	SNP	ENST00000367576.5	37	CCDS5201.1																																																																																				0.313	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		4	67	4	67
PMS2	5395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	6045580	6045580	+	Missense_Mutation	SNP	T	T	G	rs587781918		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:6045580T>G	ENST00000265849.7	-	2	211	c.106A>C	c.(106-108)Agc>Cgc	p.S36R	PMS2_ENST00000406569.3_Missense_Mutation_p.S36R|PMS2_ENST00000382321.4_Missense_Mutation_p.S36R|PMS2_ENST00000441476.2_5'Flank|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	36					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCGCAGTGCTTAGACTCAGT	0.433			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													280.0	339.0	317.0					7																	6045580		1368	2332	3700	SO:0001583	missense	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.106A>C	7.37:g.6045580T>G	ENSP00000265849:p.Ser36Arg		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480117	0.84747	.	.	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.94931	-3.56;-3.56;-3.56	5.67	4.54	0.55810	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.183457	0.46442	D	0.000284	D	0.95056	0.8399	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.941;1.0;0.993	D	0.93684	0.7001	10	0.54805	T	0.06	.	1.6088	0.02689	0.2777:0.2285:0.0:0.4937	.	36;36;36	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	R	36	ENSP00000265849:S36R;ENSP00000371758:S36R;ENSP00000384308:S36R	ENSP00000265849:S36R	S	-	1	0	PMS2	6012106	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	4.568000	0.60857	2.151000	0.67156	0.477000	0.44152	AGC		0.433	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		67	236	67	236
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:11485796T>C	ENST00000423059.4	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	986	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)																																						0													325.0	300.0	308.0					7																	11485796		1955	4151	6106	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2956A>G	7.37:g.11485796T>C	ENSP00000406482:p.Lys986Glu			Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661809	0.67700	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59224	0.28	5.74	4.58	0.56647	.	0.127617	0.64402	D	0.000001	T	0.48352	0.1495	L	0.44542	1.39	0.48901	D	0.999729	B	0.33904	0.431	B	0.38264	0.269	T	0.32534	-0.9903	10	0.07325	T	0.83	.	12.285	0.54788	0.1271:0.0:0.0:0.8729	.	986	Q9UPZ6	THS7A_HUMAN	E	986	ENSP00000406482:K986E	ENSP00000262042:K986E	K	-	1	0	THSD7A	11452321	1.000000	0.71417	0.107000	0.21349	0.851000	0.48451	6.186000	0.72026	0.983000	0.38602	0.482000	0.46254	AAA		0.433	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		20	122	20	122
PUS7	54517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	105098346	105098346	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:105098346T>A	ENST00000356362.2	-	16	2091	c.1877A>T	c.(1876-1878)gAt>gTt	p.D626V	PUS7_ENST00000469408.1_Missense_Mutation_p.D626V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	626					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAGAGAAAAATCCATTTTCAG	0.458																																					Colon(138;2387 3051 17860)											0													139.0	130.0	133.0					7																	105098346		2203	4300	6503	SO:0001583	missense	54517			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1877A>T	7.37:g.105098346T>A	ENSP00000348722:p.Asp626Val		Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517931	0.85495	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.44083	0.93;0.93	5.86	5.86	0.93980	Pseudouridine synthase, catalytic domain (1);	0.096821	0.64402	D	0.000001	T	0.42854	0.1221	L	0.36672	1.1	0.80722	D	1	P;P	0.44877	0.754;0.845	B;P	0.46144	0.403;0.505	T	0.34601	-0.9822	10	0.56958	D	0.05	.	15.7408	0.77894	0.0:0.0:0.0:1.0	.	626;626	B3KY42;Q96PZ0	.;PUS7_HUMAN	V	626	ENSP00000348722:D626V;ENSP00000417402:D626V	ENSP00000348722:D626V	D	-	2	0	PUS7	104885582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.632000	0.83247	2.367000	0.80283	0.528000	0.53228	GAT		0.458	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		44	53	44	53
TRPV5	56302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142609806	142609806	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:142609806G>A	ENST00000265310.1	-	13	1978	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	544					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGTTGGCAGGTGCATCAATA	0.493																																																0													214.0	178.0	190.0					7																	142609806		2203	4300	6503	SO:0001583	missense	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1630C>T	7.37:g.142609806G>A	ENSP00000265310:p.Pro544Ser		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601436	0.66445	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.94138	-3.36;-3.36	5.79	5.79	0.91817	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95435	0.8520	10	0.23891	T	0.37	-9.712	19.386	0.94556	0.0:0.0:1.0:0.0	.	544	Q9NQA5	TRPV5_HUMAN	S	544;489	ENSP00000265310:P544S;ENSP00000406361:P489S	ENSP00000265310:P544S	P	-	1	0	TRPV5	142319928	1.000000	0.71417	0.250000	0.24296	0.127000	0.20565	9.823000	0.99369	2.899000	0.99337	0.655000	0.94253	CCT		0.493	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		55	59	55	59
TEX15	56154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	30694848	30694848	+	Silent	SNP	T	T	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:30694848T>G	ENST00000256246.2	-	3	7877	c.7803A>C	c.(7801-7803)atA>atC	p.I2601I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2601					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTAAGGGTTATATGCCCAG	0.383																																																0													94.0	92.0	93.0					8																	30694848		2203	4300	6503	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7803A>C	8.37:g.30694848T>G				Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			27	37	27	37
KAT6A	7994	hgsc.bcm.edu;ucsc.edu	37	8	41794934	41794934	+	Silent	SNP	C	C	A	rs13748	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:41794934C>A	ENST00000396930.3	-	17	3735	c.3192G>T	c.(3190-3192)acG>acT	p.T1064T	KAT6A_ENST00000265713.2_Silent_p.T1064T|KAT6A_ENST00000406337.1_Silent_p.T1064T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1064					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGATCTCAAACGTGGGTTCTA	0.438																																																0													122.0	117.0	119.0					8																	41794934		2203	4300	6503	SO:0001819	synonymous_variant	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3192G>T	8.37:g.41794934C>A			Q76L81	Silent	SNP	ENST00000396930.3	37	CCDS6124.1																																																																																				0.438	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		26	49	26	49
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu	37	8	72967828	72967828	+	Missense_Mutation	SNP	G	G	A	rs374228201		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:72967828G>A	ENST00000262209.4	-	12	1579	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	458					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTATTGATACGCCCATAACTT	0.413																																																0								G	CYS/ARG	0,4400		0,0,2200	45.0	47.0	46.0		1372	5.3	1.0	8		46	2,8586	2.2+/-6.3	0,2,4292	no	missense	TRPA1	NM_007332.2	180	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	458/1120	72967828	2,12986	2200	4294	6494	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1372C>T	8.37:g.72967828G>A	ENSP00000262209:p.Arg458Cys		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371679	0.61624	0.0	2.33E-4	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.65732	-0.17;-0.17	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80511	-0.1350	10	0.66056	D	0.02	-19.4509	18.8668	0.92294	0.0:0.0:1.0:0.0	.	458	O75762	TRPA1_HUMAN	C	310;458	ENSP00000428151:R310C;ENSP00000262209:R458C	ENSP00000262209:R458C	R	-	1	0	TRPA1	73130382	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	5.769000	0.68865	2.452000	0.82932	0.557000	0.71058	CGT		0.413	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		24	29	24	29
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	113395856	113395856	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:113395856C>A	ENST00000297405.5	-	37	6215	c.5971G>T	c.(5971-5973)Gat>Tat	p.D1991Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1991	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0													82.0	80.0	80.0					8																	113395856		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5971G>T	8.37:g.113395856C>A	ENSP00000297405:p.Asp1991Tyr		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341562	0.81911	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.42	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;0.995;1.0	D	0.86292	0.1674	10	0.72032	D	0.01	.	17.5729	0.87940	0.0:1.0:0.0:0.0	.	1887;1991;1951	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1951;1991;1261;1887;1921	ENSP00000345799:D1951Y;ENSP00000297405:D1991Y;ENSP00000341558:D1261Y;ENSP00000412263:D1887Y;ENSP00000343124:D1921Y	ENSP00000297405:D1991Y	D	-	1	0	CSMD3	113465032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.574000	0.82434	2.440000	0.82611	0.467000	0.42956	GAT		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	55	13	55
NFX1	4799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	33311160	33311160	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:33311160A>G	ENST00000379540.3	+	6	1495	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G	NFX1_ENST00000379521.4_Missense_Mutation_p.E478G|NFX1_ENST00000318524.6_Missense_Mutation_p.E478G	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	478					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAACATGTGAATGTGGACGA	0.413																																																0													151.0	146.0	148.0					9																	33311160		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1433A>G	9.37:g.33311160A>G	ENSP00000368856:p.Glu478Gly		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868670	0.32977	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.28895	1.59;1.59;1.59	5.56	5.56	0.83823	.	0.189358	0.47852	D	0.000203	T	0.29716	0.0742	N	0.12746	0.255	0.35924	D	0.832025	D;D;B;P;P	0.62365	0.991;0.968;0.085;0.929;0.776	P;P;B;P;P	0.56434	0.798;0.48;0.029;0.604;0.583	T	0.33266	-0.9875	10	0.25106	T	0.35	.	13.7292	0.62776	1.0:0.0:0.0:0.0	.	478;362;478;478;478	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	G	478	ENSP00000368856:E478G;ENSP00000368836:E478G;ENSP00000317695:E478G	ENSP00000317695:E478G	E	+	2	0	NFX1	33301160	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.508000	0.73721	2.125000	0.65367	0.524000	0.50904	GAA		0.413	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			36	95	36	95
FAM47C	442444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	37027824	37027824	+	Silent	SNP	G	G	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:37027824G>T	ENST00000358047.3	+	1	1393	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	447										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCC	0.632																																																0													65.0	62.0	63.0					X																	37027824		2202	4300	6502	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1341G>T	X.37:g.37027824G>T			Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		56	80	56	80
TBC1D25	4943	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	48418191	48418191	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:48418191C>T	ENST00000376771.4	+	6	1236	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.H45Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGACCGGGCCCACCCCTACTA	0.632																																																0													37.0	32.0	34.0					X																	48418191		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.895C>T	X.37:g.48418191C>T	ENSP00000365962:p.His299Tyr		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168844	0.78339	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.04551	3.6;3.6	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	L	0.53249	1.67	0.54753	D	0.999981	P;P;P	0.51057	0.941;0.941;0.804	P;P;P	0.55577	0.779;0.779;0.771	T	0.00087	-1.2092	10	0.56958	D	0.05	-4.4418	16.2999	0.82804	0.0:1.0:0.0:0.0	.	303;241;299	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	Y	299;45	ENSP00000365962:H299Y;ENSP00000444091:H45Y	ENSP00000365962:H299Y	H	+	1	0	TBC1D25	48303135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.193000	0.77780	2.454000	0.82982	0.529000	0.55759	CAC		0.632	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		11	48	11	48
RLIM	51132	hgsc.bcm.edu;broad.mit.edu	37	X	73812349	73812349	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:73812349G>A	ENST00000332687.6	-	4	1019	c.801C>T	c.(799-801)caC>caT	p.H267H	RLIM_ENST00000349225.2_Silent_p.H267H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	267					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTCACATGGTGCCGGGTTC	0.438																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)											0													90.0	83.0	85.0					X																	73812349		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.801C>T	X.37:g.73812349G>A			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	CCDS14427.1																																																																																				0.438	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	110	7	110
ARMCX2	9823	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100910839	100910839	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:100910839T>A	ENST00000328766.5	-	5	2189	c.1736A>T	c.(1735-1737)gAc>gTc	p.D579V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D579V|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D579V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	579						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGAGATTGTCATAGATAAT	0.358																																																0													59.0	61.0	61.0					X																	100910839		2201	4299	6500	SO:0001583	missense	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1736A>T	X.37:g.100910839T>A	ENSP00000331662:p.Asp579Val		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.257170	0.39896	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.31769	1.48;1.48;1.48	4.1	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.285849	0.39687	N	0.001290	T	0.40322	0.1112	L	0.40543	1.245	0.52501	D	0.999952	D	0.61697	0.99	D	0.64776	0.929	T	0.22452	-1.0216	10	0.59425	D	0.04	-13.9814	8.529	0.33321	0.0:0.0:0.0:1.0	.	579	Q7L311	ARMX2_HUMAN	V	579	ENSP00000331662:D579V;ENSP00000328631:D579V;ENSP00000349281:D579V	ENSP00000331662:D579V	D	-	2	0	ARMCX2	100797495	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.387000	0.52501	1.834000	0.53371	0.345000	0.21793	GAC		0.358	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		26	46	26	46
ARMCX5	64860	hgsc.bcm.edu;broad.mit.edu	37	X	101857471	101857471	+	Silent	SNP	T	T	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:101857471T>A	ENST00000604957.1	+	1	3024	c.402T>A	c.(400-402)atT>atA	p.I134I	ARMCX5_ENST00000536530.1_Silent_p.I134I|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Silent_p.I134I|ARMCX5_ENST00000372742.1_Silent_p.I134I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.I134I|ARMCX5_ENST00000541409.1_Silent_p.I134I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	134										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAAATATTAGGTCCTATG	0.463																																																0													248.0	207.0	221.0					X																	101857471		2203	4300	6503	SO:0001819	synonymous_variant	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.402T>A	X.37:g.101857471T>A			B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	CCDS14500.1																																																																																				0.463	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		19	242	19	242
L1CAM	3897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153130307	153130307	+	Silent	SNP	G	G	T	rs202082978		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:153130307G>T	ENST00000370060.1	-	23	3204	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	L1CAM_ENST00000361699.4_Silent_p.I1005I|L1CAM_ENST00000370057.3_Silent_p.I1005I|L1CAM_ENST00000370055.1_Silent_p.I1000I|L1CAM_ENST00000361981.3_Silent_p.I1000I|L1CAM_ENST00000538883.1_Silent_p.I1007I|L1CAM_ENST00000543994.1_Silent_p.I1007I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1005	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCCGTACGATGGCTTCAC	0.632																																																0													115.0	108.0	110.0					X																	153130307		2203	4300	6503	SO:0001819	synonymous_variant	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3015C>A	X.37:g.153130307G>T			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		63	177	63	177
EIF4G3	8672	broad.mit.edu;ucsc.edu	37	1	21306934	21306934	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:21306934T>C	ENST00000264211.8	-	4	412	c.218A>G	c.(217-219)cAt>cGt	p.H73R	EIF4G3_ENST00000356916.3_Missense_Mutation_p.H84R|EIF4G3_ENST00000602326.1_Missense_Mutation_p.H80R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.H80R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.H73R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.H73R|EIF4G3_ENST00000374927.4_Missense_Mutation_p.H73R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	73					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCCACTATGACGGTACTA	0.423																																																0													20.0	23.0	22.0					1																	21306934		2203	4298	6501	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.218A>G	1.37:g.21306934T>C	ENSP00000264211:p.His73Arg		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531641	0.45073	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	N	0.04508	-0.205	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.994;0.981;0.996;0.994;0.999	D;D;D;D;D;D	0.81914	0.995;0.985;0.966;0.99;0.983;0.991	T	0.42582	-0.9443	10	0.56958	D	0.05	-12.9484	15.6359	0.76953	0.0:0.0:0.0:1.0	.	73;269;73;199;80;73	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	R	73;270;73;73;80;199;73;84;73;111	ENSP00000264211:H73R;ENSP00000383274:H73R;ENSP00000364071:H73R;ENSP00000364073:H80R;ENSP00000364062:H73R;ENSP00000395381:H73R;ENSP00000396083:H111R	ENSP00000264211:H73R	H	-	2	0	EIF4G3	21179521	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.222000	0.51223	2.103000	0.63969	0.454000	0.30748	CAT		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	14	4	14
HSPG2	3339	broad.mit.edu;ucsc.edu	37	1	22159014	22159014	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22159014G>A	ENST00000374695.3	-	81	11260	c.11181C>T	c.(11179-11181)ggC>ggT	p.G3727G	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3727	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCCCACGAGGCCGAAGGAGA	0.662																																																0													60.0	63.0	62.0					1																	22159014		2203	4300	6503	SO:0001819	synonymous_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11181C>T	1.37:g.22159014G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																				0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		48	36	48	36
KRTAP13-1	140258	broad.mit.edu;ucsc.edu	37	21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:31768649G>A	ENST00000355459.2	+	1	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	82	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607																																																0													66.0	66.0	66.0					21																	31768649		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.245G>A	21.37:g.31768649G>A	ENSP00000347635:p.Arg82His		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	6.433	0.448056	0.12223	.	.	ENSG00000198390	ENST00000355459	T	0.03496	3.91	4.51	-4.5	0.03493	.	0.161204	0.28871	N	0.013862	T	0.01976	0.0062	L	0.35487	1.065	0.09310	N	1	B	0.23185	0.081	B	0.22601	0.04	T	0.42498	-0.9448	10	0.22706	T	0.39	.	0.9109	0.01295	0.4047:0.1114:0.2077:0.2762	.	82	Q8IUC0	KR131_HUMAN	H	82	ENSP00000347635:R82H	ENSP00000347635:R82H	R	+	2	0	KRTAP13-1	30690520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.215000	0.17562	-0.971000	0.03564	-0.259000	0.10710	CGT		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			14	117	14	117
RASGRF2	5924	broad.mit.edu;ucsc.edu	37	5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:80382767G>A	ENST00000265080.4	+	9	1452	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	462					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547																																																0													131.0	117.0	122.0					5																	80382767		2203	4300	6503	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1385G>A	5.37:g.80382767G>A	ENSP00000265080:p.Arg462His		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547429	0.96488	.	.	ENSG00000113319	ENST00000265080	T	0.31510	1.49	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69654	0.965;0.929	T	0.63726	-0.6572	10	0.87932	D	0	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	462;462	D6RAS9;O14827	.;RGRF2_HUMAN	H	462	ENSP00000265080:R462H	ENSP00000265080:R462H	R	+	2	0	RASGRF2	80418523	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	CGC		0.547	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		36	55	36	55
BTNL2	56244	broad.mit.edu;ucsc.edu	37	6	32362767	32362767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32362767G>A	ENST00000374993.1	-	6	1113	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	BTNL2_ENST00000414363.1_Nonsense_Mutation_p.Q162*|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.Q95*|BTNL2_ENST00000454136.3_Nonsense_Mutation_p.Q372*|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Q278*	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	372						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTTCTTGCCCCTCCACA	0.547																																																0													155.0	146.0	149.0					6																	32362767		2203	4300	6503	SO:0001587	stop_gained	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1114C>T	6.37:g.32362767G>A	ENSP00000364132:p.Gln372*		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Nonsense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	g	15.92	2.976240	0.53720	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	.	.	.	4.89	-6.22	0.02058	.	2.543060	0.01874	N	0.037450	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.287	0.00253	0.3525:0.2299:0.1846:0.233	.	.	.	.	X	372;278;162;372;162;95	.	ENSP00000364132:Q372X	Q	-	1	0	BTNL2	32470745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-1.073000	0.03137	-1.268000	0.01426	CAA		0.547	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		24	158	24	158
PCSK6	5046	broad.mit.edu;ucsc.edu	37	15	101971660	101971660	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:101971660G>A	ENST00000348070.1	-	5	518	c.519C>T	c.(517-519)ggC>ggT	p.G173G	PCSK6_ENST00000398181.2_Silent_p.G173G|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.G8G|PCSK6_ENST00000358417.3_Silent_p.G173G|PCSK6_ENST00000344273.2_Silent_p.G173G	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	174					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCTTGTCGCCACAATGCT	0.552																																																0													55.0	56.0	56.0					15																	101971660		2117	4240	6357	SO:0001819	synonymous_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.519C>T	15.37:g.101971660G>A			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37																																																																																					0.552	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		6	29	6	29
EPHA10	284656	broad.mit.edu;ucsc.edu	37	1	38184352	38184352	+	Missense_Mutation	SNP	C	C	T	rs368336351		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:38184352C>T	ENST00000373048.4	-	16	2892	c.2893G>A	c.(2893-2895)Gtg>Atg	p.V965M	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V965M|EPHA10_ENST00000330210.7_Missense_Mutation_p.V460M|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	965	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGGCCACGGCCTCCAGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17688	0.001		0.0	False		,,,				2504	0.0															0								C	MET/VAL	1,4041		0,1,2020	23.0	27.0	26.0		2893	5.2	1.0	1		26	0,8340		0,0,4170	no	missense	EPHA10	NM_001099439.1	21	0,1,6190	TT,TC,CC		0.0,0.0247,0.0081	probably-damaging	965/1009	38184352	1,12381	2021	4170	6191	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2893G>A	1.37:g.38184352C>T	ENSP00000362139:p.Val965Met		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170643	0.78452	2.47E-4	0.0	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.07444	3.19;3.19;3.19	5.16	5.16	0.70880	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.226336	0.22569	N	0.058362	T	0.26702	0.0653	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.00376	-1.1779	10	0.87932	D	0	.	11.4975	0.50417	0.0:0.9175:0.0:0.0825	.	965	Q5JZY3	EPHAA_HUMAN	M	460;965;965	ENSP00000330379:V460M;ENSP00000397746:V965M;ENSP00000362139:V965M	ENSP00000330379:V460M	V	-	1	0	EPHA10	37956939	1.000000	0.71417	0.959000	0.39883	0.894000	0.52154	5.814000	0.69208	2.573000	0.86826	0.491000	0.48974	GTG		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		5	51	5	51
TRIML1	339976	broad.mit.edu;ucsc.edu	37	4	189065196	189065196	+	Silent	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:189065196G>A	ENST00000332517.3	+	5	905	c.765G>A	c.(763-765)gaG>gaA	p.E255E	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	255					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGGAGCGAGCCACTCTTGC	0.567																																					Melanoma(31;213 1036 16579 23968 32372)											0													59.0	61.0	60.0					4																	189065196		2203	4300	6503	SO:0001819	synonymous_variant	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.765G>A	4.37:g.189065196G>A			Q96BE5	Silent	SNP	ENST00000332517.3	37	CCDS3851.1																																																																																				0.567	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		5	30	5	30
HERC2	8924	broad.mit.edu;ucsc.edu	37	15	28491947	28491947	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:28491947G>A	ENST00000261609.7	-	22	3440	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGGTAGAAGCAATGCTGGC	0.507																																																0													63.0	61.0	62.0					15																	28491947		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3332C>T	15.37:g.28491947G>A	ENSP00000261609:p.Ala1111Val			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911724	0.52439	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60424	-0.7266	10	0.42905	T	0.14	.	19.229	0.93829	0.0:0.0:1.0:0.0	.	1111	O95714	HERC2_HUMAN	V	1111	ENSP00000261609:A1111V	ENSP00000261609:A1111V	A	-	2	0	HERC2	26165542	1.000000	0.71417	0.312000	0.25196	0.552000	0.35366	9.869000	0.99810	2.546000	0.85860	0.650000	0.86243	GCT		0.507	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		36	48	36	48
RYK	6259	broad.mit.edu;ucsc.edu	37	3	133878164	133878164	+	Silent	SNP	G	G	A	rs373422007		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:133878164G>A	ENST00000427044.2	-	15	1672	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	RYK_ENST00000296084.4_Silent_p.Y544Y			P34925	RYK_HUMAN	receptor-like tyrosine kinase	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						CAATGTCCACGTAGGGAGTCT	0.488													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0															0								A	,	1,4029		0,1,2014	68.0	67.0	67.0		1636,1627	-7.8	0.4	3		67	0,8310		0,0,4155	no	coding-synonymous,coding-synonymous	RYK	NM_001005861.2,NM_002958.3	,	0,1,6169	AA,AG,GG		0.0,0.0248,0.0081	,	546/611,543/608	133878164	1,12339	2015	4155	6170	SO:0001819	synonymous_variant	6259			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1062C>T	3.37:g.133878164G>A			Q04696	Silent	SNP	ENST00000427044.2	37		.	.	.	.	.	.	.	.	.	.	g	9.177	1.022601	0.19433	2.48E-4	0.0	ENSG00000163785	ENST00000460933	.	.	.	5.65	-7.76	0.01232	.	.	.	.	.	T	0.65133	0.2662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70454	-0.4867	4	.	.	.	-5.3056	18.1	0.89503	0.4858:0.0:0.5142:0.0	.	.	.	.	M	523	.	.	T	-	2	0	RYK	135360854	0.195000	0.23338	0.398000	0.26321	0.975000	0.68041	-0.346000	0.07760	-1.705000	0.01406	-0.185000	0.12909	ACG		0.488	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		6	26	6	26
POLR3A	11128	broad.mit.edu;hgsc.bcm.edu	37	10	79785474	79785474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:79785474delT	ENST00000372371.3	-	3	361	c.224delA	c.(223-225)aacfs	p.N75fs		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	75					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCAGCCAAGTTTTTCCCACA	0.483																																																0													161.0	147.0	152.0					10																	79785474		2203	4300	6503	SO:0001589	frameshift_variant	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.224delA	10.37:g.79785474delT	ENSP00000361446:p.Asn75fs		Q8IW34|Q8TCW5	Frame_Shift_Del	DEL	ENST00000372371.3	37	CCDS7354.1																																																																																				0.483	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		25	92	25	92
TAOK1	57551	broad.mit.edu;hgsc.bcm.edu	37	17	27778575	27778578	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:27778575_27778578delAACT	ENST00000261716.3	+	2	528_531	c.9_12delAACT	c.(7-12)tcaactfs	p.ST3fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.ST3fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	3					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATGCCATCAACTAACAGAGCAG	0.446																																																0																																										SO:0001589	frameshift_variant	57551			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.9_12delAACT	17.37:g.27778575_27778578delAACT	ENSP00000261716:p.Ser3fs		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Frame_Shift_Del	DEL	ENST00000261716.3	37	CCDS32601.1																																																																																				0.446	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		16	28	16	28
BCOR	54880	broad.mit.edu	37	X	39922291	39922291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:39922291delT	ENST00000378444.4	-	9	4109	c.3881delA	c.(3880-3882)aagfs	p.K1294fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.K1260fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.K137fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.K1242fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.K1260fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1294					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAAAGACTCTTCATGGGCGG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													26.0	23.0	24.0					X																	39922291		2170	4245	6415	SO:0001589	frameshift_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3881delA	X.37:g.39922291delT	ENSP00000367705:p.Lys1294fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	CCDS48093.1																																																																																				0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	5	4	5
