#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_BAM_File	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_Chromosome_hg18	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_End_position_hg18	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	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_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
DNAH11	8701	hgsc.bcm.edu	37	7	21788302	21788302	+	Missense_Mutation	SNP	G	G	A	rs374342102		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:21788302G>A	ENST00000409508.3	+	52	8646	c.8615G>A	c.(8614-8616)cGt>cAt	p.R2872H	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2879H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2879	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTACCTTCGTGGCCTTGAG	0.572									Kartagener syndrome																																								0			7						G	HIS/ARG	0,4020		0,0,2010	101.0	104.0	103.0		8637	5.7	0.1	7		103	1,8361		0,1,4180	no	missense	DNAH11	NM_003777.3	29	0,1,6190	AA,AG,GG		0.012,0.0,0.0081	benign	2879/4524	21788302	1,12381	2010	4181	6191	21754827	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8615G>A	7.37:g.21788302G>A	ENSP00000475939:p.Arg2872His	Somatic		Capture	Illumina HiSeq	Phase_I	21754827	Q9UJ82	Silent	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	14.28	2.489327	0.44249	0.0	1.2E-4	ENSG00000105877	ENST00000328843	T	0.39229	1.09	5.73	5.73	0.89815	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.146619	0.64402	D	0.000009	T	0.36608	0.0973	.	.	.	0.23841	N	0.996698	B	0.24920	0.114	B	0.14023	0.01	T	0.36792	-0.9733	9	0.87932	D	0	.	16.875	0.86050	0.0:0.1279:0.8721:0.0	.	2879	Q96DT5	DYH11_HUMAN	H	2879	ENSP00000330671:R2879H	ENSP00000330671:R2879H	R	+	2	0	DNAH11	21754827	0.786000	0.28738	0.088000	0.20740	0.153000	0.21895	4.258000	0.58822	2.692000	0.91855	0.650000	0.86243	CGT		DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
STARD3NL	83930	hgsc.bcm.edu	37	7	38256633	38256633	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:38256633C>T	ENST00000009041.7	+	5	646	c.389C>T	c.(388-390)aCg>aTg	p.T130M	STARD3NL_ENST00000396013.1_Missense_Mutation_p.T130M|STARD3NL_ENST00000434197.1_Intron|STARD3NL_ENST00000544203.1_Missense_Mutation_p.T123M	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	130	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.T130M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CAGTTGACAACGGCAGTGACC	0.478																																																	1	Substitution - Missense(1)	ovary(1)	7											298.0	259.0	272.0					7																	38256633		2203	4300	6503	38223158	SO:0001583	missense	83930			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.389C>T	7.37:g.38256633C>T	ENSP00000009041:p.Thr130Met	Somatic		Capture	Illumina HiSeq	Phase_I	38223158	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884854	0.91814	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.79	5.79	0.91817	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83524	0.0087	10	0.66056	D	0.02	-19.5212	18.8126	0.92064	0.0:1.0:0.0:0.0	.	130	O95772	MENTO_HUMAN	M	130;123;130;130;130;130	ENSP00000009041:T130M;ENSP00000439436:T123M;ENSP00000379334:T130M;ENSP00000411933:T130M;ENSP00000395455:T130M;ENSP00000402028:T130M	ENSP00000009041:T130M	T	+	2	0	STARD3NL	38223158	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.202000	0.77856	2.739000	0.93911	0.655000	0.94253	ACG		STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		
NPC1L1	29881	hgsc.bcm.edu	37	7	44560626	44560626	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:44560626G>C	ENST00000289547.4	-	13	3100	c.3045C>G	c.(3043-3045)ttC>ttG	p.F1015L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.F1015L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F969L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1015					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTCGTTCAGGAACCAGGGAA	0.537																																																	0			7											159.0	162.0	161.0					7																	44560626		2203	4300	6503	44527151	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3045C>G	7.37:g.44560626G>C	ENSP00000289547:p.Phe1015Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44527151	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253233	0.59212	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.96940	-4.18;-4.17;-4.17	5.35	1.98	0.26296	.	0.115066	0.64402	D	0.000016	D	0.97974	0.9333	M	0.93550	3.43	0.42774	D	0.993849	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.983;0.996;0.997	D	0.96551	0.9408	10	0.66056	D	0.02	-32.5644	5.5738	0.17212	0.5377:0.0:0.4623:0.0	.	969;1015;1015;1015	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	L	1015;1015;969	ENSP00000289547:F1015L;ENSP00000370552:F1015L;ENSP00000438033:F969L	ENSP00000289547:F1015L	F	-	3	2	NPC1L1	44527151	0.997000	0.39634	0.996000	0.52242	0.495000	0.33615	0.347000	0.20014	0.591000	0.29711	0.650000	0.86243	TTC		NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
GTF2IRD2	84163	hgsc.bcm.edu	37	7	74211463	74211463	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:74211463A>G	ENST00000405086.2	-	16	2577	c.2388T>C	c.(2386-2388)acT>acC	p.T796T	GTF2IRD2_ENST00000451013.2_Silent_p.T343T	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcgtcaaatgagtctcccaga	0.493																																					NSCLC(40;560 1096 7501 40315 49546)												0			7											58.0	61.0	60.0					7																	74211463		2198	4293	6491	73849399	SO:0001819	synonymous_variant	84163			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.2388T>C	7.37:g.74211463A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73849399	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	CCDS5576.1																																																																																				GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537	
SSC4D	136853	hgsc.bcm.edu	37	7	76024570	76024570	+	Splice_Site	SNP	C	C	T	rs199812860		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:76024570C>T	ENST00000275560.3	-	7	1293	c.946G>A	c.(946-948)Gct>Act	p.A316T	ZP3_ENST00000336517.4_5'Flank|SRCRB4D_ENST00000492979.2_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGCTCTTTACCGGACGGATCT	0.627																																																	0			7											75.0	71.0	72.0					7																	76024570		2203	4300	6503	75862506	SO:0001630	splice_region_variant	136853																														ENST00000275560.3:c.946+1G>A	7.37:g.76024570C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75862506		Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255471	0.22965	.	.	ENSG00000146700	ENST00000275560	T	0.01221	5.15	4.03	4.03	0.46877	.	0.499017	0.19682	N	0.108481	T	0.01320	0.0043	L	0.27053	0.805	0.32662	N	0.51801	B	0.22480	0.07	B	0.08055	0.003	T	0.37056	-0.9722	9	.	.	.	.	11.9696	0.53055	0.0:1.0:0.0:0.0	.	316	Q8WTU2	SRB4D_HUMAN	T	316	ENSP00000275560:A316T	.	A	-	1	0	SRCRB4D	75862506	0.994000	0.37717	0.860000	0.33809	0.040000	0.13550	3.481000	0.53179	2.523000	0.85059	0.655000	0.94253	GCT		SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		Missense_Mutation
DTX2	113878	hgsc.bcm.edu	37	7	76111908	76111908	+	Missense_Mutation	SNP	G	G	A	rs146593354		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:76111908G>A	ENST00000324432.5	+	5	862	c.352G>A	c.(352-354)Gat>Aat	p.D118N	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.D118N|DTX2_ENST00000446820.2_Missense_Mutation_p.D118N|DTX2_ENST00000446600.1_Missense_Mutation_p.D27N|DTX2_ENST00000307569.8_Missense_Mutation_p.D118N|DTX2_ENST00000413936.2_Missense_Mutation_p.D118N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	118	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D118Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTGAGCGACGATGGCTCCTG	0.617																																																	1	Substitution - Missense(1)	ovary(1)	7											52.0	51.0	51.0					7																	76111908		2203	4300	6503	75949844	SO:0001583	missense	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.352G>A	7.37:g.76111908G>A	ENSP00000322885:p.Asp118Asn	Somatic		Capture	Illumina HiSeq	Phase_I	75949844	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.445270	0.25987	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000423646;ENST00000430490;ENST00000446820	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.41	5.41	0.78517	WWE domain (2);WWE domain, subgroup (1);	0.054241	0.64402	D	0.000001	T	0.24470	0.0593	N	0.19112	0.55	0.41193	D	0.98631	B;B;B	0.27286	0.174;0.165;0.153	B;B;B	0.24006	0.011;0.03;0.05	T	0.07424	-1.0773	10	0.09084	T	0.74	-18.442	18.1599	0.89705	0.0:0.0:1.0:0.0	.	27;118;118	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	N	118;118;27;27;118;118;118;118	ENSP00000322885:D118N;ENSP00000305242:D118N;ENSP00000397648:D27N;ENSP00000390218:D118N;ENSP00000415838:D118N;ENSP00000411986:D118N;ENSP00000392545:D118N	ENSP00000305242:D118N	D	+	1	0	AC005522.1	75949844	1.000000	0.71417	0.954000	0.39281	0.247000	0.25773	6.399000	0.73248	2.552000	0.86080	0.561000	0.74099	GAT		DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
PCLO	27445	hgsc.bcm.edu	37	7	82580730	82580730	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:82580730A>C	ENST00000333891.9	-	6	9511	c.9174T>G	c.(9172-9174)atT>atG	p.I3058M	PCLO_ENST00000423517.2_Missense_Mutation_p.I3058M|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGGGTACTAATCCCAGCTC	0.448																																																	0			7											101.0	94.0	96.0					7																	82580730		1908	4122	6030	82418666	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9174T>G	7.37:g.82580730A>C	ENSP00000334319:p.Ile3058Met	Somatic		Capture	Illumina HiSeq	Phase_I	82418666		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	6.321	0.427415	0.11987	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20200	2.09;2.09	5.58	5.58	0.84498	.	.	.	.	.	T	0.29158	0.0725	L	0.35723	1.085	0.80722	D	1	P;D;D	0.59357	0.838;0.985;0.985	B;P;P	0.58391	0.293;0.838;0.838	T	0.03597	-1.1021	9	0.87932	D	0	.	8.7176	0.34421	0.8817:0.0:0.1183:0.0	.	2989;3058;3058	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	M	2989;3058;3058	ENSP00000334319:I3058M;ENSP00000388393:I3058M	ENSP00000334319:I3058M	I	-	3	3	PCLO	82418666	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.426000	0.21363	2.128000	0.65567	0.460000	0.39030	ATT		PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SGCE	8910	hgsc.bcm.edu	37	7	94248262	94248262	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:94248262G>T	ENST00000265735.7	-	5	580	c.470C>A	c.(469-471)cCg>cAg	p.P157Q	SGCE_ENST00000415788.2_Missense_Mutation_p.P193Q|SGCE_ENST00000428696.2_Missense_Mutation_p.P157Q|SGCE_ENST00000437425.2_Missense_Mutation_p.P116Q|SGCE_ENST00000445866.2_Missense_Mutation_p.P157Q|SGCE_ENST00000447873.1_Missense_Mutation_p.P157Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	157					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.P157L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATGGCAACGGGAAGTCTAA	0.358																																																	1	Substitution - Missense(1)	ovary(1)	7											82.0	75.0	77.0					7																	94248262		2203	4300	6503	94086198	SO:0001583	missense	8910			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.470C>A	7.37:g.94248262G>T	ENSP00000265735:p.Pro157Gln	Somatic		Capture	Illumina HiSeq	Phase_I	94086198	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575715	0.45902	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.98264	-4.44;-4.45;-4.83;-4.49;-4.49;-4.45	5.54	4.64	0.57946	Dystroglycan-type cadherin-like (1);	0.047393	0.85682	D	0.000000	D	0.97583	0.9208	L	0.31664	0.95	0.80722	D	1	D;D;P;B;D	0.89917	1.0;0.996;0.467;0.355;1.0	D;D;P;B;D	0.97110	1.0;0.93;0.527;0.191;0.999	D	0.96248	0.9181	10	0.18710	T	0.47	-9.3439	13.8781	0.63665	0.0767:0.0:0.9233:0.0	.	193;116;157;157;157	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	Q	157;157;116;157;157;193	ENSP00000265735:P157Q;ENSP00000398930:P157Q;ENSP00000394061:P116Q;ENSP00000388734:P157Q;ENSP00000397536:P157Q;ENSP00000405313:P193Q	ENSP00000265735:P157Q	P	-	2	0	SGCE	94086198	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	5.770000	0.68873	1.418000	0.47098	0.655000	0.94253	CCG		SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2		
CNPY4	245812	hgsc.bcm.edu	37	7	99722184	99722184	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:99722184C>T	ENST00000262932.3	+	5	645	c.513C>T	c.(511-513)taC>taT	p.Y171Y	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	171	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACTGGTACTTCCACCATC	0.507																																																	0			7											105.0	103.0	104.0					7																	99722184		2203	4300	6503	99560120	SO:0001819	synonymous_variant	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.513C>T	7.37:g.99722184C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99560120	Q8WUN9	Silent	SNP	ENST00000262932.3	37	CCDS34701.1																																																																																				CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755	
EPHB4	2050	hgsc.bcm.edu	37	7	100410422	100410422	+	Missense_Mutation	SNP	C	C	T	rs529340542		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:100410422C>T	ENST00000358173.3	-	12	2533	c.2065G>A	c.(2065-2067)Gtc>Atc	p.V689I	EPHB4_ENST00000360620.3_Missense_Mutation_p.V689I|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V689I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAATCATGACGGGCATGCTG	0.627																																					GBM(200;2113 3072 25865 52728)												1	Substitution - Missense(1)	ovary(1)	7											88.0	84.0	85.0					7																	100410422		2203	4300	6503	100248358	SO:0001583	missense	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2065G>A	7.37:g.100410422C>T	ENSP00000350896:p.Val689Ile	Somatic		Capture	Illumina HiSeq	Phase_I	100248358	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048239	0.55110	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.61859	0.07;0.07	4.79	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000166	T	0.53916	0.1826	N	0.02802	-0.49	0.54753	D	0.999981	D;D	0.89917	0.996;1.0	D;D	0.79108	0.97;0.992	T	0.67730	-0.5595	10	0.56958	D	0.05	.	15.6721	0.77286	0.0:1.0:0.0:0.0	.	689;689	Q96L35;P54760	.;EPHB4_HUMAN	I	689	ENSP00000353833:V689I;ENSP00000350896:V689I	ENSP00000350896:V689I	V	-	1	0	EPHB4	100248358	0.997000	0.39634	0.934000	0.37439	0.028000	0.11728	3.649000	0.54417	2.368000	0.80403	0.650000	0.86243	GTC		EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
MYL10	93408	hgsc.bcm.edu	37	7	101267528	101267528	+	Missense_Mutation	SNP	C	C	A	rs143165987		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:101267528C>A	ENST00000223167.4	-	2	272	c.95G>T	c.(94-96)cGg>cTg	p.R32L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	32						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R32Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGCTCTTTTCCGAGCTCTTCT	0.612																																					Esophageal Squamous(24;575 709 17516 40384 51639)												1	Substitution - Missense(1)	ovary(1)	7											113.0	109.0	111.0					7																	101267528		2203	4300	6503	101054248	SO:0001583	missense	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.95G>T	7.37:g.101267528C>A	ENSP00000223167:p.Arg32Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101054248		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403682	0.62288	.	.	ENSG00000106436	ENST00000223167	T	0.72942	-0.7	4.71	3.56	0.40772	.	0.088290	0.42964	D	0.000638	T	0.64216	0.2578	L	0.46157	1.445	0.33134	D	0.543545	B	0.33826	0.427	B	0.42214	0.38	T	0.72017	-0.4417	10	0.66056	D	0.02	.	4.1434	0.10205	0.0:0.6769:0.0:0.3231	.	32	Q9BUA6	MYL10_HUMAN	L	32	ENSP00000223167:R32L	ENSP00000223167:R32L	R	-	2	0	MYL10	101054248	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	5.783000	0.68982	2.339000	0.79563	0.561000	0.74099	CGG		MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
TFEC	22797	hgsc.bcm.edu	37	7	115594643	115594643	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:115594643G>T	ENST00000265440.7	-	5	616	c.436C>A	c.(436-438)Ctc>Atc	p.L146I	TFEC_ENST00000457268.1_Missense_Mutation_p.L79I|TFEC_ENST00000320239.7_Missense_Mutation_p.L117I|TFEC_ENST00000484212.1_Missense_Mutation_p.L236I|TFEC_ENST00000393485.1_Missense_Mutation_p.L117I	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	146	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.		L -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L146V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TACTCACTGAGGTTGTGGTTG	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)	7											143.0	140.0	141.0					7																	115594643		2202	4300	6502	115381879	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.436C>A	7.37:g.115594643G>T	ENSP00000265440:p.Leu146Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115381879	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733275	0.89482	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	L	0.33093	0.98	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.984;0.999	D;D;D;D	0.91635	0.999;0.998;0.926;0.999	D	0.98611	1.0663	10	0.56958	D	0.05	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	236;117;117;146	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	I	146;79;117;117;236	ENSP00000265440:L146I;ENSP00000387650:L79I;ENSP00000318676:L117I;ENSP00000377125:L117I;ENSP00000417432:L236I	ENSP00000265440:L146I	L	-	1	0	TFEC	115381879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.034000	0.64152	2.831000	0.97527	0.650000	0.86243	CTC		TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
CHRM2	1129	hgsc.bcm.edu	37	7	136699656	136699656	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:136699656C>T	ENST00000445907.2	+	3	572	c.44C>T	c.(43-45)aCa>aTa	p.T15I	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.T15I|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T15I|CHRM2_ENST00000401861.1_Missense_Mutation_p.T15I|CHRM2_ENST00000453373.1_Missense_Mutation_p.T15I|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T15I|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	15					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T15R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGCTCTTACAAGTCCTTAT	0.398																																																	1	Substitution - Missense(1)	ovary(1)	7											100.0	99.0	99.0					7																	136699656		2203	4300	6503	136350196	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.44C>T	7.37:g.136699656C>T	ENSP00000399745:p.Thr15Ile	Somatic		Capture	Illumina HiSeq	Phase_I	136350196	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.33	2.32	0.28847	.	0.788603	0.11693	N	0.538671	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.20107	-1.0285	10	0.29301	T	0.29	-8.0095	11.8381	0.52338	0.1273:0.4324:0.4402:0.0	.	15	P08172	ACM2_HUMAN	I	15	ENSP00000399745:T15I;ENSP00000415386:T15I;ENSP00000319984:T15I;ENSP00000380733:T15I;ENSP00000384937:T15I;ENSP00000384401:T15I	ENSP00000319984:T15I	T	+	2	0	CHRM2	136350196	0.749000	0.28305	0.996000	0.52242	0.806000	0.45545	-0.067000	0.11579	0.614000	0.30107	-1.250000	0.01514	ACA		CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
OR6B1	135946	hgsc.bcm.edu	37	7	143701918	143701918	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr7:143701918G>A	ENST00000408922.2	+	1	897	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CATCTTCTATGCCATTGTCAC	0.423																																																	0			7											104.0	99.0	100.0					7																	143701918		1940	4128	6068	143332851	SO:0001583	missense	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.829G>A	7.37:g.143701918G>A	ENSP00000386151:p.Ala277Thr	Somatic		Capture	Illumina HiSeq	Phase_I	143332851	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	1.397	-0.579286	0.03854	.	.	ENSG00000221813	ENST00000408922	T	0.00021	9.02	5.15	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	U	0.002475	T	0.00039	0.0001	N	0.00554	-1.385	0.23533	N	0.997478	B	0.06786	0.001	B	0.14578	0.011	T	0.24870	-1.0148	10	0.02654	T	1	.	7.3069	0.26453	0.2674:0.0:0.7326:0.0	.	277	O95007	OR6B1_HUMAN	T	277	ENSP00000386151:A277T	ENSP00000386151:A277T	A	+	1	0	OR6B1	143332851	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.347000	0.07750	1.397000	0.46682	0.655000	0.94253	GCC		OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
CHGB	1114	hgsc.bcm.edu	37	20	5902992	5902992	+	Missense_Mutation	SNP	G	G	A	rs370206314		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:5902992G>A	ENST00000378961.4	+	4	406	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	68						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGAAAAGACGTCAAAGACAA	0.408																																																	0			20						G	ILE/VAL	0,4406		0,0,2203	47.0	48.0	48.0		202	1.7	1.0	20		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHGB	NM_001819.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	68/678	5902992	1,13005	2203	4300	6503	5850992	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.202G>A	20.37:g.5902992G>A	ENSP00000368244:p.Val68Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5850992	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220639	0.06061	0.0	1.16E-4	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01548	4.78;4.78	5.77	1.66	0.24008	.	0.642918	0.14144	N	0.338490	T	0.02193	0.0068	M	0.62723	1.935	0.26383	N	0.976705	B	0.26081	0.141	B	0.17722	0.019	T	0.43147	-0.9409	10	0.28530	T	0.3	-6.5147	5.2658	0.15597	0.2325:0.2966:0.4709:0.0	.	68	P05060	SCG1_HUMAN	I	68;48	ENSP00000368244:V68I;ENSP00000416643:V48I	ENSP00000368244:V68I	V	+	1	0	CHGB	5850992	0.914000	0.31030	0.993000	0.49108	0.055000	0.15305	0.490000	0.22403	0.087000	0.17167	-0.878000	0.02970	GTC		CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
CST4	1472	hgsc.bcm.edu	37	20	23667836	23667836	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562																																																	0			20											209.0	192.0	198.0					20																	23667836		2203	4300	6503	23615836	SO:0001819	synonymous_variant	1472				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.231C>T	20.37:g.23667836G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23615836	Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	CCDS13159.1																																																																																				CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899	
BPIFB1	92747	hgsc.bcm.edu	37	20	31889044	31889044	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:31889044G>A	ENST00000253354.1	+	9	914	c.753G>A	c.(751-753)aaG>aaA	p.K251K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	251					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTCAGGCCAAGTTGTTGGACT	0.498																																																	0			20											115.0	103.0	107.0					20																	31889044		2203	4300	6503	31352705	SO:0001819	synonymous_variant	92747			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.753G>A	20.37:g.31889044G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31352705	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	CCDS13218.1																																																																																				BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	
NCOA5	57727	hgsc.bcm.edu	37	20	44698924	44698924	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:44698924C>T	ENST00000290231.6	-	3	454	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	97	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCGAAAATCCCTAGAGTCTCT	0.488																																																	0			20											115.0	105.0	108.0					20																	44698924		2203	4300	6503	44132331	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.290G>A	20.37:g.44698924C>T	ENSP00000290231:p.Arg97Lys	Somatic		Capture	Illumina HiSeq	Phase_I	44132331	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320134	0.81469	.	.	ENSG00000124160	ENST00000290231	T	0.51574	0.7	5.17	5.17	0.71159	.	0.123708	0.53938	D	0.000044	T	0.67116	0.2859	M	0.68317	2.08	0.41092	D	0.985606	D	0.56035	0.974	D	0.67725	0.953	T	0.69143	-0.5223	10	0.62326	D	0.03	-12.0168	17.8426	0.88719	0.0:1.0:0.0:0.0	.	97	Q9HCD5	NCOA5_HUMAN	K	97	ENSP00000290231:R97K	ENSP00000290231:R97K	R	-	2	0	NCOA5	44132331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.956000	0.56722	2.684000	0.91462	0.650000	0.86243	AGG		NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967	
TSHZ2	128553	hgsc.bcm.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		19301	0.0		0.001	False		,,,				2504	0.0031																1	Substitution - Missense(1)	ovary(1)	20											57.0	52.0	53.0					20																	51870661		2203	4300	6503	51304068	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr	Somatic		Capture	Illumina HiSeq	Phase_I	51304068	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
GNAS	2778	hgsc.bcm.edu	37	20	57415590	57415590	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:57415590C>T	ENST00000313949.7	+	1	818	c.429C>T	c.(427-429)gaC>gaT	p.D143D	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.D143D|GNAS_ENST00000371098.2_Silent_p.D143D|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCTGAAGACGATCGCGGCC	0.662			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0			20											75.0	70.0	71.0					20																	57415590		2203	4300	6503	56848985	SO:0001819	synonymous_variant	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.429C>T	20.37:g.57415590C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56848985	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978738	0.18812	.	.	ENSG00000087460	ENST00000419558	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.64583	0.2611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62353	-0.6872	4	.	.	.	.	13.15	0.59484	0.0:1.0:0.0:0.0	.	.	.	.	M	11	.	.	T	+	2	0	GNAS	56848985	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.154000	0.31688	2.566000	0.86566	0.585000	0.79938	ACG		GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516	
RBBP8NL	140893	hgsc.bcm.edu	37	20	60991872	60991872	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:60991872C>T	ENST00000252998.1	-	5	413	c.257G>A	c.(256-258)cGg>cAg	p.R86Q		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	86						extracellular space (GO:0005615)											CTCCTGCTGCCGCTTCCTGGC	0.682																																																	0			20											42.0	38.0	40.0					20																	60991872		2194	4291	6485	60425267	SO:0001583	missense	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.257G>A	20.37:g.60991872C>T	ENSP00000252998:p.Arg86Gln	Somatic		Capture	Illumina HiSeq	Phase_I	60425267	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552452	0.45487	.	.	ENSG00000130701	ENST00000252998	T	0.18960	2.18	4.46	0.928	0.19443	Tumour-suppressor protein CtIP N-terminal (1);	0.195483	0.41938	D	0.000788	T	0.13072	0.0317	L	0.43152	1.355	0.21697	N	0.999585	P	0.42993	0.797	B	0.31946	0.138	T	0.13764	-1.0497	10	0.59425	D	0.04	-25.2442	8.0339	0.30480	0.0:0.2265:0.0:0.7735	.	86	Q8NC74	CT151_HUMAN	Q	86	ENSP00000252998:R86Q	ENSP00000252998:R86Q	R	-	2	0	C20orf151	60425267	1.000000	0.71417	0.996000	0.52242	0.252000	0.25951	0.897000	0.28390	-0.111000	0.12001	-0.367000	0.07326	CGG		RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833	
NF2	4771	hgsc.bcm.edu	37	22	30035156	30035156	+	Silent	SNP	A	A	G	rs535626069		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr22:30035156A>G	ENST00000338641.4	+	3	759	c.318A>G	c.(316-318)gaA>gaG	p.E106E	NF2_ENST00000361166.4_Silent_p.E106E|NF2_ENST00000353887.4_Intron|NF2_ENST00000403435.1_Silent_p.E106E|NF2_ENST00000361676.4_Silent_p.E64E|NF2_ENST00000397789.3_Silent_p.E106E|NF2_ENST00000413209.2_Silent_p.E106E|NF2_ENST00000403999.3_Silent_p.E106E|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000334961.7_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	106	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		E -> G (in NF2). {ECO:0000269|PubMed:8081368, ECO:0000269|PubMed:9643284}.		actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.H95fs*3(1)|p.V86_Q111>E(1)|p.A105fs*20(1)|p.L97fs*17(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGAATGCTGAAGAGGAGCTGG	0.448			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				A|||	1	0.000199681	0.0008	0.0	5008	,	,		20266	0.0		0.0	False		,,,				2504	0.0						yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	7	Unknown(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	soft_tissue(3)|stomach(1)|large_intestine(1)|lung(1)|kidney(1)	22											137.0	120.0	126.0					22																	30035156		2203	4300	6503	28365156	SO:0001819	synonymous_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.318A>G	22.37:g.30035156A>G		Somatic		Capture	Illumina HiSeq	Phase_I	28365156	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	ENST00000338641.4	37	CCDS13861.1																																																																																				NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
PIK3IP1	113791	hgsc.bcm.edu	37	22	31679153	31679153	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr22:31679153C>T	ENST00000215912.5	-	6	892	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.V158M	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	237					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						GTGTGGACCACGACAGTCTTC	0.607																																																	0			22											99.0	71.0	80.0					22																	31679153		2203	4300	6503	30009153	SO:0001583	missense	113791			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.709G>A	22.37:g.31679153C>T	ENSP00000215912:p.Val237Met	Somatic		Capture	Illumina HiSeq	Phase_I	30009153	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155795	0.78114	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000487265	T;T	0.51071	0.72;0.72	5.67	3.59	0.41128	.	0.177739	0.49916	D	0.000132	T	0.49133	0.1539	L	0.61218	1.895	0.80722	D	1	D;P	0.59767	0.986;0.902	P;B	0.46825	0.528;0.15	T	0.52808	-0.8526	10	0.87932	D	0	-11.678	10.6888	0.45858	0.0:0.8444:0.0:0.1556	.	158;237	D1MEI0;Q96FE7	.;P3IP1_HUMAN	M	237;215;158	ENSP00000215912:V237M;ENSP00000441361:V158M	ENSP00000215912:V237M	V	-	1	0	PIK3IP1	30009153	0.994000	0.37717	0.625000	0.29200	0.983000	0.72400	4.463000	0.60128	0.738000	0.32606	0.561000	0.74099	GTG		PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880	
ZBED4	9889	hgsc.bcm.edu	37	22	50279381	50279381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr22:50279381C>T	ENST00000216268.5	+	2	2548	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	691						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q691K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGAAACCTCAGTACTCCCT	0.443																																																	1	Substitution - Missense(1)	ovary(1)	22											111.0	116.0	114.0					22																	50279381		2203	4300	6503	48665385	SO:0001587	stop_gained	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2071C>T	22.37:g.50279381C>T	ENSP00000216268:p.Gln691*	Somatic		Capture	Illumina HiSeq	Phase_I	48665385	B2RZH1|Q1ECU0|Q9UGG8	Nonsense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	43	10.068848	0.99330	.	.	ENSG00000100426	ENST00000216268	.	.	.	5.36	5.36	0.76844	.	0.065867	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-28.2004	19.0818	0.93186	0.0:1.0:0.0:0.0	.	.	.	.	X	691	.	ENSP00000216268:Q691X	Q	+	1	0	ZBED4	48665385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.361000	0.79497	2.492000	0.84095	0.655000	0.94253	CAG		ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
OR4Q3	441669	hgsc.bcm.edu	37	14	20215705	20215705	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:20215705T>C	ENST00000331723.1	+	1	119	c.119T>C	c.(118-120)cTg>cCg	p.L40P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATTGTCCTGGGAAACCTC	0.393																																																	0			14											188.0	193.0	191.0					14																	20215705		2203	4300	6503	19285545	SO:0001583	missense	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.119T>C	14.37:g.20215705T>C	ENSP00000330049:p.Leu40Pro	Somatic		Capture	Illumina HiSeq	Phase_I	19285545	Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	15.29	2.789857	0.50102	.	.	ENSG00000182652	ENST00000331723	T	0.02552	4.25	4.32	4.32	0.51571	.	0.000000	0.31859	U	0.006947	T	0.09949	0.0244	M	0.90483	3.12	0.53005	D	0.999962	P	0.47409	0.895	P	0.49561	0.615	T	0.00214	-1.1912	10	0.87932	D	0	.	6.379	0.21523	0.0:0.1101:0.0:0.8899	.	40	Q8NH05	OR4Q3_HUMAN	P	40	ENSP00000330049:L40P	ENSP00000330049:L40P	L	+	2	0	OR4Q3	19285545	0.000000	0.05858	0.992000	0.48379	0.861000	0.49209	0.821000	0.27338	1.814000	0.52955	0.416000	0.27883	CTG		OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2		
RNASE2	6036	hgsc.bcm.edu	37	14	21424040	21424040	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:21424040G>T	ENST00000304625.2	+	2	200	c.110G>T	c.(109-111)tGg>tTg	p.W37L		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	37				W -> R (in Ref. 10; AA sequence). {ECO:0000305}.	chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGGGCTCAATGGTTTGAAACC	0.453																																																	0			14											87.0	82.0	83.0					14																	21424040		2203	4300	6503	20493880	SO:0001583	missense	6036			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.110G>T	14.37:g.21424040G>T	ENSP00000303276:p.Trp37Leu	Somatic		Capture	Illumina HiSeq	Phase_I	20493880	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	g	16.01	3.001443	0.54254	.	.	ENSG00000169385	ENST00000304625	T	0.73047	-0.71	2.78	2.78	0.32641	Ribonuclease A, domain (4);	1.760720	0.03567	U	0.227943	T	0.78610	0.4310	M	0.87682	2.9	0.33107	D	0.540013	D	0.54964	0.969	P	0.45343	0.477	T	0.75442	-0.3316	10	0.72032	D	0.01	.	9.1968	0.37233	0.0:0.0:1.0:0.0	.	37	P10153	RNAS2_HUMAN	L	37	ENSP00000303276:W37L	ENSP00000303276:W37L	W	+	2	0	RNASE2	20493880	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	3.413000	0.52686	1.865000	0.54081	0.455000	0.32223	TGG		RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2		
WDHD1	11169	hgsc.bcm.edu	37	14	55433311	55433311	+	Missense_Mutation	SNP	C	C	A	rs145612447		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:55433311C>A	ENST00000360586.3	-	18	2257	c.2192G>T	c.(2191-2193)cGt>cTt	p.R731L	WDHD1_ENST00000421192.1_Missense_Mutation_p.R608L|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249L|WDHD1_ENST00000420358.2_Missense_Mutation_p.R608L	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	731					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313																																																	0			14											84.0	75.0	78.0					14																	55433311		2200	4295	6495	54503061	SO:0001583	missense	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2192G>T	14.37:g.55433311C>A	ENSP00000353793:p.Arg731Leu	Somatic		Capture	Illumina HiSeq	Phase_I	54503061	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533711	0.64972	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.70045	-0.05;0.47;-0.45	5.63	2.81	0.32909	.	0.109437	0.64402	D	0.000005	T	0.77644	0.4161	M	0.76002	2.32	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.70935	0.971;0.876	T	0.74694	-0.3579	10	0.42905	T	0.14	.	10.0057	0.41955	0.0:0.7799:0.0:0.2201	.	249;731	F8W7P7;O75717	.;WDHD1_HUMAN	L	731;249;608	ENSP00000353793:R731L;ENSP00000352085:R249L;ENSP00000391049:R608L	ENSP00000352085:R249L	R	-	2	0	WDHD1	54503061	1.000000	0.71417	0.945000	0.38365	0.652000	0.38707	4.511000	0.60462	0.319000	0.23209	0.591000	0.81541	CGT		WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
PCNXL4	64430	hgsc.bcm.edu	37	14	60591813	60591813	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:60591813T>C	ENST00000406854.1	+	9	3478	c.2924T>C	c.(2923-2925)gTa>gCa	p.V975A	PCNXL4_ENST00000406949.1_Missense_Mutation_p.V741A|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V975A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V741A|PCNXL4_ENST00000535349.1_Missense_Mutation_p.V182A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	975						integral component of membrane (GO:0016021)											GTTCATACAGTAATGACTTGT	0.363																																																	0			14											84.0	86.0	85.0					14																	60591813		2202	4300	6502	59661566	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2924T>C	14.37:g.60591813T>C	ENSP00000384801:p.Val975Ala	Somatic		Capture	Illumina HiSeq	Phase_I	59661566	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	T	13.27	2.186025	0.38609	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.39592	1.65;1.65;1.61;1.65;1.07	4.91	3.76	0.43208	.	0.244211	0.41500	N	0.000864	T	0.52306	0.1726	L	0.59436	1.845	0.45056	D	0.998076	B;D	0.63046	0.248;0.992	B;P	0.61328	0.079;0.887	T	0.44651	-0.9314	10	0.24483	T	0.36	.	10.4562	0.44553	0.0:0.0773:0.0:0.9227	.	975;741	Q63HM2;B5MC47	CN135_HUMAN;.	A	741;975;741;975;182	ENSP00000317396:V741A;ENSP00000384801:V975A;ENSP00000385201:V741A;ENSP00000385713:V975A;ENSP00000445644:V182A	ENSP00000317396:V741A	V	+	2	0	C14orf135	59661566	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.970000	0.49240	0.827000	0.34685	0.254000	0.18369	GTA		PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	
SIX1	6495	hgsc.bcm.edu	37	14	61115504	61115504	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:61115504G>A	ENST00000247182.6	-	1	676	c.404C>T	c.(403-405)tCg>tTg	p.S135L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	135					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GACACCCCTCGACTTCTCCTT	0.662																																																	0			14											64.0	60.0	61.0					14																	61115504		2203	4300	6503	60185257	SO:0001583	missense	6495			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.404C>T	14.37:g.61115504G>A	ENSP00000247182:p.Ser135Leu	Somatic		Capture	Illumina HiSeq	Phase_I	60185257	Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960885	0.92791	.	.	ENSG00000126778	ENST00000247182	D	0.96200	-3.94	5.97	5.03	0.67393	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.88377	2.95	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	D	0.97509	1.0065	10	0.87932	D	0	-8.9345	12.1441	0.54014	0.0:0.1289:0.7377:0.1333	.	135	Q15475	SIX1_HUMAN	L	135	ENSP00000247182:S135L	ENSP00000247182:S135L	S	-	2	0	SIX1	60185257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.842000	0.48230	2.828000	0.97474	0.655000	0.94253	TCG		SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3		
ZFYVE26	23503	hgsc.bcm.edu	37	14	68250183	68250183	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:68250183C>T	ENST00000347230.4	-	21	3824	c.3686G>A	c.(3685-3687)aGc>aAc	p.S1229N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1229N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1229					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACAGCAGCAGCTGACGATGAC	0.572																																																	0			14											67.0	62.0	63.0					14																	68250183		2203	4300	6503	67319936	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3686G>A	14.37:g.68250183C>T	ENSP00000251119:p.Ser1229Asn	Somatic		Capture	Illumina HiSeq	Phase_I	67319936	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	1.547	-0.540306	0.04053	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27104	1.83;1.69	5.63	0.518	0.17030	.	0.514237	0.22527	N	0.058900	T	0.08758	0.0217	N	0.04043	-0.29	0.25886	N	0.983533	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39099	-0.9630	10	0.02654	T	1	-5.0458	10.0562	0.42246	0.0:0.3703:0.0:0.6297	.	1229;1229	G3V2D8;Q68DK2	.;ZFY26_HUMAN	N	1229;1208;1229	ENSP00000251119:S1229N;ENSP00000450603:S1229N	ENSP00000251119:S1229N	S	-	2	0	ZFYVE26	67319936	0.998000	0.40836	0.937000	0.37676	0.851000	0.48451	0.385000	0.20685	0.089000	0.17243	-0.312000	0.09012	AGC		ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
LTBP2	4053	hgsc.bcm.edu	37	14	74999244	74999244	+	Silent	SNP	G	G	A	rs149576879	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:74999244G>A	ENST00000261978.4	-	10	2258	c.1872C>T	c.(1870-1872)aaC>aaT	p.N624N	LTBP2_ENST00000556690.1_Silent_p.N624N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	624	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCAAGCACTCGTTGATATCTG	0.592																																																	0			14						A		0,4406		0,0,2203	99.0	68.0	79.0		1872	-4.9	0.7	14	dbSNP_134	79	3,8597	818.4+/-406.9	0,3,4297	no	coding-synonymous	LTBP2	NM_000428.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		624/1822	74999244	3,13003	2203	4300	6503	74068997	SO:0001819	synonymous_variant	4054				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1872C>T	14.37:g.74999244G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74068997	Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																				LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
STK11	6794	hgsc.bcm.edu	37	19	1207092	1207092	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:1207092C>T	ENST00000326873.7	+	1	1353	c.180C>T	c.(178-180)taC>taT	p.Y60Y	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTCTTACGGCAAGGTGA	0.622		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	28	Whole gene deletion(20)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(2)	cervix(15)|lung(8)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	19	GRCh37	CD064644|CM981863|CM991149	STK11	D|M							42.0	46.0	45.0					19																	1207092		2088	4198	6286	1158092	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.180C>T	19.37:g.1207092C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1158092	B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
ZNF556	80032	hgsc.bcm.edu	37	19	2877893	2877893	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:2877893A>G	ENST00000307635.2	+	4	1024	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	ZNF556_ENST00000586426.1_Missense_Mutation_p.K312E	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGGGGAGAAACCCTATAA	0.522																																																	0			19											53.0	51.0	52.0					19																	2877893		2203	4300	6503	2828893	SO:0001583	missense	80032			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.937A>G	19.37:g.2877893A>G	ENSP00000302603:p.Lys313Glu	Somatic		Capture	Illumina HiSeq	Phase_I	2828893	Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748750	0.30955	.	.	ENSG00000172000	ENST00000307635	T	0.27104	1.69	2.3	2.3	0.28687	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36963	0.0986	M	0.64080	1.96	0.21355	N	0.999713	P	0.52316	0.952	P	0.54460	0.753	T	0.11397	-1.0589	9	0.72032	D	0.01	.	7.8561	0.29483	1.0:0.0:0.0:0.0	.	313	Q9HAH1	ZN556_HUMAN	E	313	ENSP00000302603:K313E	ENSP00000302603:K313E	K	+	1	0	ZNF556	2828893	0.933000	0.31639	0.246000	0.24233	0.184000	0.23303	3.050000	0.49877	0.902000	0.36520	0.334000	0.21626	AAA		ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
MUC16	94025	hgsc.bcm.edu	37	19	9075296	9075296	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:9075296T>A	ENST00000397910.4	-	3	12353	c.12150A>T	c.(12148-12150)gaA>gaT	p.E4050D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4052	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4050D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGGTAATTTCTGTTCTAG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	19											152.0	139.0	143.0					19																	9075296		1923	4123	6046	8936296	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12150A>T	19.37:g.9075296T>A	ENSP00000381008:p.Glu4050Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8936296	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.785	0.710247	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.23	-2.88	0.05682	.	.	.	.	.	T	0.01800	0.0057	N	0.22421	0.69	.	.	.	B	0.28713	0.22	B	0.20184	0.028	T	0.43507	-0.9387	8	0.87932	D	0	.	2.3664	0.04320	0.4117:0.2891:0.0:0.2991	.	4050	B5ME49	.	D	4050	ENSP00000381008:E4050D	ENSP00000381008:E4050D	E	-	3	2	MUC16	8936296	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-3.551000	0.00433	-0.943000	0.03691	0.260000	0.18958	GAA		MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9083247	9083247	+	Missense_Mutation	SNP	C	C	G	rs371108545		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:9083247C>G	ENST00000397910.4	-	1	8771	c.8568G>C	c.(8566-8568)gaG>gaC	p.E2856D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2856	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGCCTGACTCAGCACTGG	0.542																																																	0			19											88.0	85.0	86.0					19																	9083247		2010	4185	6195	8944247	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8568G>C	19.37:g.9083247C>G	ENSP00000381008:p.Glu2856Asp	Somatic		Capture	Illumina HiSeq	Phase_I	8944247	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.715322	0.00093	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.869	-1.74	0.08056	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.87932	D	0	.	2.0553	0.03579	0.2553:0.3442:0.0:0.4005	.	2856	B5ME49	.	D	2856	ENSP00000381008:E2856D	ENSP00000381008:E2856D	E	-	3	2	MUC16	8944247	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.811000	0.01728	-1.413000	0.02027	-0.678000	0.03780	GAG		MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SLC1A6	6511	hgsc.bcm.edu	37	19	15063753	15063753	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:15063753C>T	ENST00000221742.3	-	8	1493	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V432M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V418M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AACCAGTCCACGGCAATGATG	0.582																																																	0			19											193.0	145.0	162.0					19																	15063753		2203	4300	6503	14924753	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1486G>A	19.37:g.15063753C>T	ENSP00000221742:p.Val496Met	Somatic		Capture	Illumina HiSeq	Phase_I	14924753	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	21.2	4.119758	0.77323	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.66638	-0.03;-0.22	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	D	0.89274	0.3607	10	0.87932	D	0	-31.9452	14.8789	0.70516	0.0:1.0:0.0:0.0	.	432;496	E7EV13;P48664	.;EAA4_HUMAN	M	432;496	ENSP00000409386:V432M;ENSP00000221742:V496M	ENSP00000221742:V496M	V	-	1	0	SLC1A6	14924753	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.455000	0.80726	2.451000	0.82905	0.446000	0.29264	GTG		SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
CPAMD8	27151	hgsc.bcm.edu	37	19	17058029	17058029	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:17058029C>T	ENST00000443236.1	-	21	2689	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	839						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGAGAGCTTCATGTACACCT	0.602																																																	0			19											143.0	144.0	144.0					19																	17058029		2078	4214	6292	16919029	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2658G>A	19.37:g.17058029C>T	ENSP00000402505:p.Met886Ile	Somatic		Capture	Illumina HiSeq	Phase_I	16919029	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537735	0.27475	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	3.46	0.39613	Alpha-2-macroglobulin (1);	0.355253	0.25296	N	0.031693	T	0.34687	0.0906	N	0.04686	-0.185	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.13980	-1.0489	9	0.34782	T	0.22	.	11.8444	0.52376	0.0:0.8221:0.1779:0.0	.	839	Q8IZJ3	CPMD8_HUMAN	I	886	.	ENSP00000291440:M886I	M	-	3	0	CPAMD8	16919029	0.998000	0.40836	0.076000	0.20297	0.948000	0.59901	0.473000	0.22132	1.510000	0.48803	0.491000	0.48974	ATG		CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
SYNE4	163183	hgsc.bcm.edu	37	19	36498129	36498129	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:36498129G>A	ENST00000324444.3	-	3	432	c.321C>T	c.(319-321)aaC>aaT	p.N107N	AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_Intron|ALKBH6_ENST00000495116.2_5'Flank	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	107					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GGTGCAGGCTGTTCTGCTCAG	0.652																																																	0			19											13.0	16.0	15.0					19																	36498129		1967	4145	6112	41189969	SO:0001819	synonymous_variant	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.321C>T	19.37:g.36498129G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41189969	A8MRS0|A8MYE3|Q7Z7L3	Silent	SNP	ENST00000324444.3	37	CCDS42553.1																																																																																				SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876	
LGALS7B	653499	hgsc.bcm.edu	37	19	39281365	39281365	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:39281365C>T	ENST00000314980.4	+	3	148	c.132C>T	c.(130-132)ggC>ggT	p.G44G		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	44	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										AGGAGCAGGGCTCCGATGCCG	0.642																																																	0			19											34.0	37.0	36.0					19																	39281365		2201	4298	6499	43973205	SO:0001819	synonymous_variant	653499				CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.132C>T	19.37:g.39281365C>T		Somatic		Capture	Illumina HiSeq	Phase_I	43973205	Q6IB87	Silent	SNP	ENST00000314980.4	37	CCDS42565.1																																																																																				LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1		
LGALS13	29124	hgsc.bcm.edu	37	19	40095882	40095882	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:40095882C>T	ENST00000221797.4	+	3	202	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	53	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TATTGCCTTCCGTTTCCGAGT	0.512																																																	0			19											241.0	178.0	199.0					19																	40095882		2203	4300	6503	44787722	SO:0001583	missense	29124			AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.157C>T	19.37:g.40095882C>T	ENSP00000221797:p.Arg53Cys	Somatic		Capture	Illumina HiSeq	Phase_I	44787722	C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	11.79	1.743078	0.30865	.	.	ENSG00000105198	ENST00000221797	T	0.06371	3.31	0.744	0.744	0.18353	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.10337	0.0253	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	P	0.56916	0.809	T	0.25082	-1.0142	8	0.87932	D	0	.	.	.	.	.	53	Q9UHV8	PP13_HUMAN	C	53	ENSP00000221797:R53C	ENSP00000221797:R53C	R	+	1	0	LGALS13	44787722	0.001000	0.12720	0.006000	0.13384	0.022000	0.10575	-1.105000	0.03323	0.658000	0.30925	0.305000	0.20034	CGT		LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268	
FCGBP	8857	hgsc.bcm.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A	rs587708149	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.001																0			19											23.0	20.0	21.0					19																	40408807		2203	4294	6497	45100647	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4032C>T	19.37:g.40408807G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45100647	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CEACAM18	729767	hgsc.bcm.edu	37	19	51986278	51986278	+	Silent	SNP	C	C	T	rs112143229		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:51986278C>T	ENST00000396477.4	+	4	702	c.681C>T	c.(679-681)ccC>ccT	p.P227P	CEACAM18_ENST00000451626.1_Silent_p.P288P	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	227	Ig-like C2-type.							p.P227P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGATGGGCCCGACTATGTGC	0.557																																																	1	Substitution - coding silent(1)	skin(1)	19											153.0	147.0	149.0					19																	51986278		1963	4158	6121	56678090	SO:0001819	synonymous_variant	729767					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.681C>T	19.37:g.51986278C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56678090	C9JN24	Silent	SNP	ENST00000396477.4	37																																																																																					CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
FPR1	2357	hgsc.bcm.edu	37	19	52249968	52249968	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:52249968C>T	ENST00000595042.1	-	3	421	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	FPR1_ENST00000304748.4_Missense_Mutation_p.G94S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	94					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGAACCAGCCGAAAGGCCAA	0.517																																																	0			19											137.0	105.0	116.0					19																	52249968		2203	4300	6503	56941780	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.280G>A	19.37:g.52249968C>T	ENSP00000471493:p.Gly94Ser	Somatic		Capture	Illumina HiSeq	Phase_I	56941780	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.401969	0.62288	.	.	ENSG00000171051	ENST00000304748	T	0.40225	1.04	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.67998	0.2953	M	0.89030	3	0.49130	D	0.999756	D	0.89917	1.0	D	0.79108	0.992	T	0.76141	-0.3068	10	0.87932	D	0	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	94	P21462	FPR1_HUMAN	S	94	ENSP00000302707:G94S	ENSP00000302707:G94S	G	-	1	0	FPR1	56941780	1.000000	0.71417	0.916000	0.36221	0.077000	0.17291	7.043000	0.76572	1.960000	0.56953	0.655000	0.94253	GGC		FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
ZNF649	65251	hgsc.bcm.edu	37	19	52399807	52399807	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:52399807G>A	ENST00000354957.3	-	4	440	c.156C>T	c.(154-156)ggC>ggT	p.G52G	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Silent_p.G52G	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CATCAGGTTTGCCGGCTTGAT	0.493																																																	0			19											158.0	120.0	133.0					19																	52399807		2203	4300	6503	57091619	SO:0001819	synonymous_variant	65251			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.156C>T	19.37:g.52399807G>A		Somatic		Capture	Illumina HiSeq	Phase_I	57091619	A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	CCDS12843.1																																																																																				ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
CNOT3	4849	hgsc.bcm.edu	37	19	54651930	54651930	+	Silent	SNP	T	T	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:54651930T>G	ENST00000406403.1	+	10	2545	c.942T>G	c.(940-942)ccT>ccG	p.P314P	CNOT3_ENST00000358389.3_Silent_p.P133P|CNOT3_ENST00000221232.5_Silent_p.P314P			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	314	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCAGCACCCTCAGTCCCCAG	0.687																																																	0			19											32.0	33.0	32.0					19																	54651930		2193	4289	6482	59343742	SO:0001819	synonymous_variant	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.942T>G	19.37:g.54651930T>G		Somatic		Capture	Illumina HiSeq	Phase_I	59343742	Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450466	0.26074	.	.	ENSG00000088038	ENST00000440571	.	.	.	3.43	-0.942	0.10398	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28713	-1.0035	4	.	.	.	-10.2197	0.503	0.00582	0.2964:0.1586:0.3232:0.2217	.	.	.	.	R	236	.	.	L	+	2	0	CNOT3	59343742	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	0.370000	0.20433	0.061000	0.16311	0.379000	0.24179	CTC		CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
NLRP9	338321	hgsc.bcm.edu	37	19	56241220	56241220	+	Silent	SNP	A	A	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:56241220A>T	ENST00000332836.2	-	3	1998	c.1971T>A	c.(1969-1971)ccT>ccA	p.P657P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	657						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P657P(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTACAAACAGGCTGAGCCA	0.418																																																	1	Substitution - coding silent(1)	ovary(1)	19											82.0	81.0	81.0					19																	56241220		2203	4300	6503	60933032	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1971T>A	19.37:g.56241220A>T		Somatic		Capture	Illumina HiSeq	Phase_I	60933032	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP5	126206	hgsc.bcm.edu	37	19	56539847	56539847	+	Missense_Mutation	SNP	G	G	A	rs61745533	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:56539847G>A	ENST00000390649.3	+	7	2248	c.2248G>A	c.(2248-2250)Gct>Act	p.A750T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	750					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGATGAGTCCGCTGAGGCATG	0.522													G|||	4	0.000798722	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.0041																0			19						G	THR/ALA	1,4055		0,1,2027	144.0	144.0	144.0		2248	-5.4	0.0	19	dbSNP_129	144	5,8385		0,5,4190	yes	missense	NLRP5	NM_153447.4	58	0,6,6217	AA,AG,GG		0.0596,0.0247,0.0482	benign	750/1201	56539847	6,12440	2028	4195	6223	61231659	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2248G>A	19.37:g.56539847G>A	ENSP00000375063:p.Ala750Thr	Somatic		Capture	Illumina HiSeq	Phase_I	61231659	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	3.389	-0.124674	0.06795	2.47E-4	5.96E-4	ENSG00000171487	ENST00000390649	D	0.88896	-2.44	2.72	-5.45	0.02616	.	1.278590	0.05974	N	0.642867	T	0.74359	0.3706	N	0.17474	0.49	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.60777	-0.7196	10	0.13853	T	0.58	.	5.4198	0.16394	0.1865:0.4322:0.3813:0.0	rs61745533	750	P59047	NALP5_HUMAN	T	750	ENSP00000375063:A750T	ENSP00000375063:A750T	A	+	1	0	NLRP5	61231659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.786000	0.04623	-1.005000	0.03417	0.313000	0.20887	GCT		NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
PEG3	5178	hgsc.bcm.edu	37	19	57328632	57328632	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:57328632C>T	ENST00000326441.9	-	10	1541	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	PEG3_ENST00000593695.1_Missense_Mutation_p.R267H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R393H|PEG3_ENST00000598410.1_Missense_Mutation_p.R269H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	393					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAATGATAGCGCCTCTTTCT	0.453																																																	0			19											107.0	112.0	110.0					19																	57328632		2203	4300	6503	62020444	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1178G>A	19.37:g.57328632C>T	ENSP00000326581:p.Arg393His	Somatic		Capture	Illumina HiSeq	Phase_I	62020444	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520664	0.64747	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02606	4.23;4.23	4.35	2.18	0.27775	.	0.000000	0.45361	D	0.000378	T	0.05593	0.0147	L	0.34521	1.04	.	.	.	P;P;D	0.89917	0.627;0.454;1.0	B;B;D	0.68621	0.065;0.036;0.959	T	0.40608	-0.9554	9	0.22109	T	0.4	-26.0019	6.4559	0.21930	0.0:0.5439:0.3586:0.0975	.	269;393;328	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	393;393;363	ENSP00000326581:R393H;ENSP00000403051:R393H	ENSP00000292074:R363H	R	-	2	0	ZIM2	62020444	0.196000	0.23350	0.996000	0.52242	0.935000	0.57460	0.300000	0.19156	0.748000	0.32831	0.655000	0.94253	CGC		PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CSMD1	64478	hgsc.bcm.edu	37	8	3245034	3245034	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:3245034C>T	ENST00000520002.1	-	19	3322	c.2767G>A	c.(2767-2769)Gcc>Acc	p.A923T	CSMD1_ENST00000539096.1_Missense_Mutation_p.A922T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A923T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A923T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A923T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A922T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A922T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	923	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A409S(3)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGGCAAGGCGTGGTTCCAC	0.582																																																	3	Substitution - Missense(3)	breast(3)	8											40.0	46.0	44.0					8																	3245034		2112	4223	6335	3232441	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2767G>A	8.37:g.3245034C>T	ENSP00000430733:p.Ala923Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3232441	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.610420|3.610420	0.66558|0.66558	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.48732|0.48732	0.1516|0.1516	N|N	0.17474|0.17474	0.49|0.49	0.42742|0.42742	D|D	0.993749|0.993749	D;D;P|.	0.89917|.	1.0;0.974;0.952|.	D;P;B|.	0.87578|.	0.998;0.766;0.388|.	T|T	0.45366|0.45366	-0.9266|-0.9266	10|5	0.30078|.	T|.	0.28|.	.|.	14.1803|14.1803	0.65568|0.65568	0.0:0.8502:0.1497:0.0|0.0:0.8502:0.1497:0.0	.|.	923;923;923|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	T|H	923;923;785;922;922;922|402	ENSP00000383047:A923T;ENSP00000430733:A923T;ENSP00000441462:A922T;ENSP00000446243:A922T;ENSP00000441675:A922T|.	ENSP00000320445:A785T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	3232441|3232441	0.976000|0.976000	0.34144|0.34144	0.744000|0.744000	0.31058|0.31058	0.736000|0.736000	0.42039|0.42039	2.452000|2.452000	0.44961|0.44961	2.374000|2.374000	0.81015|0.81015	0.650000|0.650000	0.86243|0.86243	GCC|CGC		CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19362934	19362934	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:19362934T>G	ENST00000454498.2	-	4	1425	c.412A>C	c.(412-414)Aag>Cag	p.K138Q	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.K138Q|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.K138Q|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.K138Q|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.K138Q	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	138					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTGGCCAGCTTGACGCCAGCA	0.607																																																	0			8											71.0	69.0	69.0					8																	19362934		2203	4300	6503	19407214	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.412A>C	8.37:g.19362934T>G	ENSP00000411816:p.Lys138Gln	Somatic		Capture	Illumina HiSeq	Phase_I	19407214	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097428	0.37048	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.74	5.74	0.90152	.	0.176323	0.51477	D	0.000088	T	0.41259	0.1151	M	0.79123	2.44	0.40918	D	0.98428	P	0.44429	0.835	P	0.49477	0.612	T	0.28299	-1.0048	10	0.23891	T	0.37	-45.7961	15.1655	0.72821	0.0:0.0:0.0:1.0	.	138	Q8TDX6	CGAT1_HUMAN	Q	138	ENSP00000411816:K138Q;ENSP00000330805:K138Q;ENSP00000310891:K138Q;ENSP00000429809:K138Q;ENSP00000442155:K138Q	ENSP00000310891:K138Q	K	-	1	0	CSGALNACT1	19407214	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.874000	0.48483	2.317000	0.78254	0.460000	0.39030	AAG		CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371	
NPBWR1	2831	hgsc.bcm.edu	37	8	53853198	53853198	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:53853198G>A	ENST00000331251.3	+	1	2208	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	244					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCCTGGAGCGCGCCAAGAAG	0.667																																																	0			8											40.0	22.0	28.0					8																	53853198		2202	4295	6497	54015751	SO:0001583	missense	2831			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.731G>A	8.37:g.53853198G>A	ENSP00000330284:p.Arg244His	Somatic		Capture	Illumina HiSeq	Phase_I	54015751	Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	g	27.4	4.828504	0.90955	.	.	ENSG00000183729	ENST00000331251	T	0.41400	1.0	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.156269	0.28977	N	0.013528	T	0.57227	0.2039	M	0.69523	2.12	0.42411	D	0.992608	D	0.89917	1.0	D	0.67548	0.952	T	0.61671	-0.7015	10	0.87932	D	0	.	6.389	0.21576	0.209:0.0:0.791:0.0	.	244	P48145	NPBW1_HUMAN	H	244	ENSP00000330284:R244H	ENSP00000330284:R244H	R	+	2	0	NPBWR1	54015751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.997000	0.76270	2.769000	0.95229	0.651000	0.88453	CGC		NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285	
ASPH	444	hgsc.bcm.edu	37	8	62556507	62556507	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:62556507G>A	ENST00000379454.4	-	8	893	c.706C>T	c.(706-708)Cca>Tca	p.P236S	ASPH_ENST00000522919.1_Missense_Mutation_p.P49S|ASPH_ENST00000517847.2_Missense_Mutation_p.P222S|ASPH_ENST00000445642.3_Missense_Mutation_p.P222S|ASPH_ENST00000523897.1_5'Flank|ASPH_ENST00000356457.5_Missense_Mutation_p.P236S|ASPH_ENST00000518068.1_Missense_Mutation_p.P193S|ASPH_ENST00000541428.1_Missense_Mutation_p.P207S|ASPH_ENST00000522835.1_Missense_Mutation_p.P179S|ASPH_ENST00000517903.1_Missense_Mutation_p.P222S	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	236	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TACAAACCTGGATTTTCCTGC	0.343																																																	0			8											77.0	75.0	76.0					8																	62556507		2203	4298	6501	62719061	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.706C>T	8.37:g.62556507G>A	ENSP00000368767:p.Pro236Ser	Somatic		Capture	Illumina HiSeq	Phase_I	62719061	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	6.383	0.438689	0.12104	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.22	2.41	0.29592	Aspartyl beta-hydroxylase/Triadin domain (1);	0.583989	0.17262	N	0.180736	T	0.38878	0.1057	L	0.34521	1.04	0.24473	N	0.994383	B;P;B;P;B;B;B	0.39601	0.407;0.68;0.072;0.549;0.06;0.34;0.147	B;P;B;B;B;B;B	0.44860	0.338;0.462;0.04;0.18;0.046;0.364;0.067	T	0.15607	-1.0431	10	0.33141	T	0.24	.	7.3229	0.26539	0.2626:0.0:0.7374:0.0	.	179;222;207;193;236;222;236	B4DIC9;B7ZM95;F5H667;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;ASPH_HUMAN	S	207;236;49;236;251;193;222;222;222;179	ENSP00000437864:P207S;ENSP00000368767:P236S;ENSP00000430516:P49S;ENSP00000348841:P236S;ENSP00000427823:P251S;ENSP00000429286:P193S;ENSP00000430245:P222S;ENSP00000394013:P222S;ENSP00000429954:P222S;ENSP00000429160:P179S	ENSP00000348841:P236S	P	-	1	0	ASPH	62719061	0.986000	0.35501	0.186000	0.23195	0.135000	0.20990	1.184000	0.32053	0.284000	0.22305	0.655000	0.94253	CCA		ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
ZFHX4	79776	hgsc.bcm.edu	37	8	77766388	77766388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:77766388G>T	ENST00000521891.2	+	10	7679	c.7231G>T	c.(7231-7233)Gaa>Taa	p.E2411*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E2385*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E2366*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E2366*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2366	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATCCCGCAGAAAAGCCAAA	0.567										HNSCC(33;0.089)																																							0			8											33.0	49.0	44.0					8																	77766388		1980	4152	6132	77928943	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7231G>T	8.37:g.77766388G>T	ENSP00000430497:p.Glu2411*	Somatic		Capture	Illumina HiSeq	Phase_I	77928943	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	50	16.622759	0.99868	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.23	5.23	0.72850	.	0.000000	0.45867	U	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.9988	0.92824	0.0:0.0:1.0:0.0	.	.	.	.	X	2411;2395;2366;2366;2385	.	ENSP00000050961:E2366X	E	+	1	0	ZFHX4	77928943	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	7.786000	0.85741	2.721000	0.93114	0.650000	0.86243	GAA		ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
RNF19A	25897	hgsc.bcm.edu	37	8	101299934	101299934	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:101299934C>A	ENST00000519449.1	-	3	785	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	RNF19A_ENST00000341084.2_Missense_Mutation_p.D157Y	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	157					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D157N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CGTAAGCAATCCACACAAGAT	0.378																																																	1	Substitution - Missense(1)	central_nervous_system(1)	8											107.0	109.0	108.0					8																	101299934		2203	4300	6503	101369110	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.469G>T	8.37:g.101299934C>A	ENSP00000428968:p.Asp157Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	101369110	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551245	0.86127	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527	D;D	0.85171	-1.95;-1.95	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94558	0.7760	10	0.87932	D	0	.	19.1651	0.93553	0.0:1.0:0.0:0.0	.	157	Q9NV58	RN19A_HUMAN	Y	157	ENSP00000428968:D157Y;ENSP00000342667:D157Y	ENSP00000342667:D157Y	D	-	1	0	RNF19A	101369110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.606000	0.88127	0.650000	0.86243	GAT		RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
CSMD3	114788	hgsc.bcm.edu	37	8	113314167	113314167	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:113314167A>G	ENST00000297405.5	-	53	8539	c.8295T>C	c.(8293-8295)ccT>ccC	p.P2765P	CSMD3_ENST00000455883.2_Silent_p.P2596P|CSMD3_ENST00000352409.3_Silent_p.P2695P|CSMD3_ENST00000343508.3_Silent_p.P2725P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2765	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TTCCATTTGGAGGTGTAGGTA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											97.0	98.0	98.0					8																	113314167		2203	4300	6503	113383343	SO:0001819	synonymous_variant	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.8295T>C	8.37:g.113314167A>G		Somatic		Capture	Illumina HiSeq	Phase_I	113383343	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113702256	113702256	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:113702256C>T	ENST00000297405.5	-	14	2240	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D562N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D666N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D626N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	666	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D666N(1)		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						GTACCAGGATCACCACAACTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)	8											131.0	140.0	137.0					8																	113702256		2203	4300	6503	113771432	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.1996G>A	8.37:g.113702256C>T	ENSP00000297405:p.Asp666Asn	Somatic		Capture	Illumina HiSeq	Phase_I	113771432	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182518	0.78677	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.09	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.70684	0.3252	L	0.39467	1.215	0.45621	D	0.998559	D;D;D	0.60160	0.968;0.987;0.958	P;D;P	0.67382	0.755;0.951;0.815	T	0.64791	-0.6324	10	0.20519	T	0.43	.	18.8569	0.92255	0.0:1.0:0.0:0.0	.	562;666;626	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	626;666;6;562;666	ENSP00000345799:D626N;ENSP00000297405:D666N;ENSP00000341558:D6N;ENSP00000412263:D562N;ENSP00000343124:D666N	ENSP00000297405:D666N	D	-	1	0	CSMD3	113771432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.525000	0.85131	0.585000	0.79938	GAT		CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	hgsc.bcm.edu	37	8	116430677	116430677	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:116430677G>A	ENST00000220888.5	-	5	2824	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	TRPS1_ENST00000395715.3_Missense_Mutation_p.R902C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R893C|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R889C(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCCTCTACGCCTCTGAAAC	0.473									Langer-Giedion syndrome																																								1	Substitution - Missense(1)	ovary(1)	8											88.0	89.0	89.0					8																	116430677		1909	4120	6029	116499853	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2665C>T	8.37:g.116430677G>A	ENSP00000220888:p.Arg889Cys	Somatic		Capture	Illumina HiSeq	Phase_I	116499853	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.455925|3.455925	0.63401|0.63401	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.99695	.|-6.43;-6.43;-6.43;-6.43	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99402|0.99402	0.9789|0.9789	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	.|.	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|893;889;902	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	V|C	13|902;889;643;893	.|ENSP00000379065:R902C;ENSP00000220888:R889C;ENSP00000428910:R643C;ENSP00000428680:R893C	.|ENSP00000220888:R889C	A|R	-|-	2|1	0|0	TRPS1|TRPS1	116499853|116499853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.586000|7.586000	0.82596|0.82596	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GCG|CGT		TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
ATAD2	29028	hgsc.bcm.edu	37	8	124340475	124340475	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:124340475A>T	ENST00000287394.5	-	25	3930	c.3823T>A	c.(3823-3825)Tct>Act	p.S1275T	ATAD2_ENST00000521903.1_Missense_Mutation_p.S593T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1275					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1275T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAGAGCTAGAAGCATCTCCA	0.294																																																	1	Substitution - Missense(1)	ovary(1)	8											73.0	69.0	70.0					8																	124340475		2203	4299	6502	124409656	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3823T>A	8.37:g.124340475A>T	ENSP00000287394:p.Ser1275Thr	Somatic		Capture	Illumina HiSeq	Phase_I	124409656	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	4.286	0.052304	0.08291	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91843	-2.92;1.5	5.08	-0.599	0.11645	.	1.760250	0.02605	N	0.101461	D	0.86981	0.6064	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70615	-0.4823	10	0.25751	T	0.34	-4.1646	5.3878	0.16227	0.4622:0.2727:0.0:0.2652	.	1275	Q6PL18	ATAD2_HUMAN	T	1275;593	ENSP00000287394:S1275T;ENSP00000429213:S593T	ENSP00000287394:S1275T	S	-	1	0	ATAD2	124409656	0.000000	0.05858	0.006000	0.13384	0.057000	0.15508	0.265000	0.18515	0.301000	0.22738	0.528000	0.53228	TCT		ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
KCNQ3	3786	hgsc.bcm.edu	37	8	133192501	133192501	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr8:133192501C>T	ENST00000388996.4	-	4	1100	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R107Q|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R227Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	227					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCGCAGGCTTCGCAGGGAGGT	0.587																																																	0			8											105.0	93.0	97.0					8																	133192501		2203	4300	6503	133261683	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.680G>A	8.37:g.133192501C>T	ENSP00000373648:p.Arg227Gln	Somatic		Capture	Illumina HiSeq	Phase_I	133261683	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759950	0.89932	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98028	-4.67;-4.67;-4.67	5.52	5.52	0.82312	Ion transport (1);	0.123529	0.52532	D	0.000061	D	0.98131	0.9383	L	0.58810	1.83	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	P;P	0.62560	0.904;0.904	D	0.99198	1.0872	10	0.87932	D	0	-4.5406	18.4101	0.90549	0.0:1.0:0.0:0.0	.	227;227	E7ET42;O43525	.;KCNQ3_HUMAN	Q	227;107;227;216;106	ENSP00000373648:R227Q;ENSP00000429799:R107Q;ENSP00000428790:R227Q	ENSP00000373648:R227Q	R	-	2	0	KCNQ3	133261683	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.729000	0.84864	2.610000	0.88304	0.561000	0.74099	CGA		KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
CAMTA1	23261	hgsc.bcm.edu	37	1	7724489	7724489	+	Missense_Mutation	SNP	G	G	A	rs200762060		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:7724489G>A	ENST00000303635.7	+	9	2089	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E628K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTCCCCGTCGAGCAGAACAC	0.647			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1						G	LYS/GLU	0,4406		0,0,2203	105.0	122.0	116.0		1882	5.1	0.6	1		116	2,8596	2.2+/-6.3	0,2,4297	no	missense	CAMTA1	NM_015215.2	56	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign	628/1674	7724489	2,13002	2203	4299	6502	7647076	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1882G>A	1.37:g.7724489G>A	ENSP00000306522:p.Glu628Lys	Somatic		Capture	Illumina HiSeq	Phase_I	7647076	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	11.68	1.710735	0.30322	0.0	2.33E-4	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20332	2.08;2.08	5.12	5.12	0.69794	.	0.407506	0.27371	N	0.019669	T	0.18087	0.0434	L	0.36672	1.1	0.41711	D	0.989457	B	0.33073	0.396	B	0.25614	0.062	T	0.03761	-1.1006	10	0.30078	T	0.28	-23.5781	18.5592	0.91094	0.0:0.0:1.0:0.0	.	628	Q9Y6Y1	CMTA1_HUMAN	K	628	ENSP00000306522:E628K;ENSP00000402561:E628K	ENSP00000306522:E628K	E	+	1	0	CAMTA1	7647076	1.000000	0.71417	0.560000	0.28344	0.434000	0.31775	7.660000	0.83776	2.408000	0.81797	0.498000	0.49722	GAG		CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
SLC2A5	6518	hgsc.bcm.edu	37	1	9100202	9100202	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:9100202C>T	ENST00000377424.4	-	6	797	c.618G>A	c.(616-618)caG>caA	p.Q206Q	SLC2A5_ENST00000535586.1_Silent_p.Q91Q|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Silent_p.Q147Q	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	206					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAAGGAGCTGCAGCGCCG	0.687																																																	0			1											23.0	27.0	26.0					1																	9100202		2186	4282	6468	9022789	SO:0001819	synonymous_variant	6518			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.618G>A	1.37:g.9100202C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9022789	Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	CCDS99.1																																																																																				SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039	
TAF12	6883	hgsc.bcm.edu	37	1	28931967	28931967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:28931967G>A	ENST00000263974.4	-	5	801	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	TAF12_ENST00000373824.4_Nonsense_Mutation_p.Q123*|TAF12_ENST00000471683.1_5'UTR	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	123					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTTCCACTGGCGCTCTGCA	0.512																																																	0			1											99.0	98.0	99.0					1																	28931967		2203	4300	6503	28804554	SO:0001587	stop_gained	6883			BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"""	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.367C>T	1.37:g.28931967G>A	ENSP00000263974:p.Gln123*	Somatic		Capture	Illumina HiSeq	Phase_I	28804554	D3DPM5|Q15775|Q5T077	Nonsense_Mutation	SNP	ENST00000263974.4	37	CCDS326.1	.	.	.	.	.	.	.	.	.	.	G	37	6.204716	0.97376	.	.	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.65	5.65	0.86999	.	0.053759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.3712	18.4761	0.90793	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000263974:Q123X	Q	-	1	0	TAF12	28804554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.303000	0.96183	2.666000	0.90696	0.585000	0.79938	CAG		TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1	NM_005644	
INADL	10207	hgsc.bcm.edu	37	1	62330030	62330030	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:62330030C>G	ENST00000371158.2	+	20	2674	c.2560C>G	c.(2560-2562)Cat>Gat	p.H854D	INADL_ENST00000316485.6_Missense_Mutation_p.H854D	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	854					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGGGAGATGCATGAATTTCT	0.388																																																	0			1											100.0	97.0	98.0					1																	62330030		2203	4300	6503	62102618	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2560C>G	1.37:g.62330030C>G	ENSP00000360200:p.His854Asp	Somatic		Capture	Illumina HiSeq	Phase_I	62102618	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218800	0.39201	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12879	2.78;2.64	5.31	4.41	0.53225	.	0.493769	0.18541	N	0.138191	T	0.14227	0.0344	L	0.60455	1.87	0.80722	D	1	P;B;P	0.36465	0.554;0.09;0.554	B;B;B	0.29785	0.107;0.024;0.107	T	0.02721	-1.1119	10	0.49607	T	0.09	.	11.9298	0.52839	0.0:0.8554:0.0:0.1446	.	854;854;854	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	D	854	ENSP00000360200:H854D;ENSP00000326199:H854D	ENSP00000255202:H854D	H	+	1	0	INADL	62102618	0.964000	0.33143	0.982000	0.44146	0.980000	0.70556	1.356000	0.34079	1.249000	0.43950	0.555000	0.69702	CAT		INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
CCBL2	56267	hgsc.bcm.edu	37	1	89414923	89414923	+	Missense_Mutation	SNP	C	C	T	rs377683877		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:89414923C>T	ENST00000260508.4	-	11	1329	c.992G>A	c.(991-993)cGc>cAc	p.R331H	CCBL2_ENST00000370491.3_Missense_Mutation_p.R297H|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	331					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GTCATCCATGCGCTTGATGTC	0.363																																																	0			1						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	67.0	69.0		992,890	4.4	1.0	1		69	0,8600		0,0,4300	no	missense,missense	CCBL2	NM_001008661.2,NM_001008662.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	331/455,297/421	89414923	1,13005	2203	4300	6503	89187511	SO:0001583	missense	56267			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.992G>A	1.37:g.89414923C>T	ENSP00000260508:p.Arg331His	Somatic		Capture	Illumina HiSeq	Phase_I	89187511	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.250968	0.22880	2.27E-4	0.0	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.90844	-2.74;-2.74	5.34	4.42	0.53409	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.170503	0.51477	D	0.000092	T	0.69913	0.3164	N	0.16903	0.455	0.80722	D	1	P	0.36162	0.54	B	0.27262	0.078	T	0.73544	-0.3949	10	0.14656	T	0.56	-43.8821	14.2692	0.66140	0.0:0.9268:0.0:0.0732	.	331	Q6YP21	KAT3_HUMAN	H	297;331	ENSP00000359522:R297H;ENSP00000260508:R331H	ENSP00000260508:R331H	R	-	2	0	CCBL2	89187511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.523000	0.45580	2.515000	0.84797	0.467000	0.42956	CGC		CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661	
NTNG1	22854	hgsc.bcm.edu	37	1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:107867468G>A	ENST00000370068.1	+	3	1657	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370067.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I			Q9Y2I2	NTNG1_HUMAN	netrin G1	271	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.V271I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACCAGCCGTTGGGGAAAT	0.458																																																	2	Substitution - Missense(2)	large_intestine(2)	1											54.0	56.0	56.0					1																	107867468		2203	4299	6502	107668991	SO:0001583	missense	84628			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.811G>A	1.37:g.107867468G>A	ENSP00000359085:p.Val271Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107668991	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630818	0.28978	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.94	3.92	0.45320	Laminin, N-terminal (3);	0.336633	0.24492	N	0.038046	T	0.29850	0.0746	N	0.04508	-0.205	0.33178	D	0.549223	B;B;B;B;B	0.25772	0.001;0.134;0.007;0.021;0.076	B;B;B;B;B	0.28709	0.007;0.093;0.019;0.024;0.046	T	0.05435	-1.0885	10	0.40728	T	0.16	.	4.7071	0.12855	0.6449:0.0:0.3551:0.0	.	271;271;271;271;271	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	271;271;271;271;271;271;271;271;32;32;271;271;271;271;271;271	ENSP00000359090:V271I;ENSP00000359088:V271I;ENSP00000440561:V271I;ENSP00000359078:V271I;ENSP00000359089:V271I;ENSP00000359087:V271I;ENSP00000359091:V271I;ENSP00000359085:V271I;ENSP00000359084:V271I;ENSP00000359083:V271I;ENSP00000359082:V271I	ENSP00000294649:V271I	V	+	1	0	NTNG1	107668991	1.000000	0.71417	0.787000	0.31911	0.994000	0.84299	7.637000	0.83313	0.752000	0.32923	0.655000	0.94253	GTT		NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
GPSM2	29899	hgsc.bcm.edu	37	1	109444503	109444503	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:109444503G>T	ENST00000406462.2	+	9	1662	c.889G>T	c.(889-891)Gac>Tac	p.D297Y	GPSM2_ENST00000264126.3_Missense_Mutation_p.D297Y|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	297					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TTTACTTCAAGACTATGAAAA	0.378																																																	0			1											87.0	83.0	84.0					1																	109444503		2203	4300	6503	109246026	SO:0001583	missense	29899			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.889G>T	1.37:g.109444503G>T	ENSP00000385510:p.Asp297Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	109246026	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	ENST00000406462.2	37	CCDS792.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447744	0.84101	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.95137	-3.62;-3.62	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.97232	0.9885	10	0.87932	D	0	-22.2125	20.2723	0.98479	0.0:0.0:1.0:0.0	.	297	P81274	GPSM2_HUMAN	Y	297	ENSP00000385510:D297Y;ENSP00000264126:D297Y	ENSP00000264126:D297Y	D	+	1	0	GPSM2	109246026	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	GAC		GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296	
KCNA10	3744	hgsc.bcm.edu	37	1	111060544	111060544	+	Missense_Mutation	SNP	C	C	T	rs571676088		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:111060544C>T	ENST00000369771.2	-	1	1253	c.866G>A	c.(865-867)cGg>cAg	p.R289Q		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	289					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GACCACGAACCGGAGCACCAG	0.502													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22390	0.0		0.0	False		,,,				2504	0.0																0			1											144.0	122.0	130.0					1																	111060544		2203	4300	6503	110862067	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.866G>A	1.37:g.111060544C>T	ENSP00000358786:p.Arg289Gln	Somatic		Capture	Illumina HiSeq	Phase_I	110862067		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537519	0.85917	.	.	ENSG00000143105	ENST00000369771	D	0.98567	-5.0	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.99911	4.935	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.97403	0.9997	10	0.87932	D	0	.	18.6105	0.91283	0.0:1.0:0.0:0.0	.	289	Q16322	KCA10_HUMAN	Q	289	ENSP00000358786:R289Q	ENSP00000358786:R289Q	R	-	2	0	KCNA10	110862067	0.997000	0.39634	0.983000	0.44433	0.813000	0.45954	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	CGG		KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
OVGP1	5016	hgsc.bcm.edu	37	1	111957638	111957638	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:111957638G>T	ENST00000369732.3	-	11	1540	c.1485C>A	c.(1483-1485)acC>acA	p.T495T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	495					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACCCACAGGGGTCAGGGCCT	0.557																																																	0			1											91.0	79.0	83.0					1																	111957638		2203	4300	6503	111759161	SO:0001819	synonymous_variant	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1485C>A	1.37:g.111957638G>T		Somatic		Capture	Illumina HiSeq	Phase_I	111759161	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																				OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
ADAM30	11085	hgsc.bcm.edu	37	1	120437576	120437576	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:120437576T>A	ENST00000369400.1	-	1	1542	c.1384A>T	c.(1384-1386)Aat>Tat	p.N462Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	462	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N462D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCACATTCATTTCCTTCCTGC	0.468																																																	1	Substitution - Missense(1)	ovary(1)	1											148.0	131.0	137.0					1																	120437576		2203	4300	6503	120239099	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1384A>T	1.37:g.120437576T>A	ENSP00000358407:p.Asn462Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	120239099	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621640	0.66787	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.12774	2.65	4.97	4.97	0.65823	Blood coagulation inhibitor, Disintegrin (5);	0.270220	0.26007	N	0.026920	T	0.27629	0.0679	M	0.85945	2.785	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.15983	-1.0418	10	0.87932	D	0	.	11.0032	0.47618	0.0:0.0:0.0:1.0	.	462	Q9UKF2	ADA30_HUMAN	Y	462	ENSP00000358407:N462Y	ENSP00000358407:N462Y	N	-	1	0	ADAM30	120239099	0.009000	0.17119	0.073000	0.20177	0.397000	0.30659	2.086000	0.41643	2.090000	0.63153	0.460000	0.39030	AAT		ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
FLG	2312	hgsc.bcm.edu	37	1	152277472	152277472	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:152277472C>A	ENST00000368799.1	-	3	9925	c.9890G>T	c.(9889-9891)aGt>aTt	p.S3297I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3297	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCTGGACTTGATCTTGC	0.577									Ichthyosis																																								0			1											394.0	385.0	388.0					1																	152277472		2203	4300	6503	150544096	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9890G>T	1.37:g.152277472C>A	ENSP00000357789:p.Ser3297Ile	Somatic		Capture	Illumina HiSeq	Phase_I	150544096	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.439	1.087605	0.20390	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.09255	3.0	3.05	-0.392	0.12442	.	.	.	.	.	T	0.09158	0.0226	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.14227	-1.0480	9	0.41790	T	0.15	.	5.0151	0.14331	0.0:0.4455:0.4215:0.1329	.	3297	P20930	FILA_HUMAN	I	3297;235	ENSP00000357789:S3297I	ENSP00000357786:S235I	S	-	2	0	FLG	150544096	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.341000	0.07811	-0.190000	0.10465	0.298000	0.19748	AGT		FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SPRR2E	6704	hgsc.bcm.edu	37	1	153066109	153066109	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:153066109T>C	ENST00000368751.1	-	2	193	c.119A>G	c.(118-120)aAg>aGg	p.K40R	SPRR2E_ENST00000368750.3_Missense_Mutation_p.K40R|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	40	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGGACACTTTGGTGGTGG	0.622																																																	0			1											151.0	148.0	149.0					1																	153066109		2203	4298	6501	151332733	SO:0001583	missense	6704			AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.119A>G	1.37:g.153066109T>C	ENSP00000357740:p.Lys40Arg	Somatic		Capture	Illumina HiSeq	Phase_I	151332733	Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483727	0.26598	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.32753	1.44;1.44	4.3	1.89	0.25635	.	0.942785	0.08679	N	0.909641	T	0.05181	0.0138	.	.	.	0.09310	N	1	P	0.36909	0.573	B	0.33521	0.165	T	0.35599	-0.9782	9	0.21014	T	0.42	.	3.6516	0.08205	0.191:0.1085:0.0:0.7004	.	40	P22531	SPR2E_HUMAN	R	40	ENSP00000357740:K40R;ENSP00000357739:K40R	ENSP00000357739:K40R	K	-	2	0	SPRR2E	151332733	0.166000	0.22962	0.005000	0.12908	0.446000	0.32137	0.850000	0.27737	0.088000	0.17205	0.333000	0.21579	AAG		SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1		
ADAR	103	hgsc.bcm.edu	37	1	154574369	154574369	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:154574369G>T	ENST00000368474.4	-	2	948	c.749C>A	c.(748-750)gCt>gAt	p.A250D	ADAR_ENST00000292205.5_Missense_Mutation_p.A293D|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	250					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A250V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCAAGCCTGAGCTGAGACTGC	0.517																																																	1	Substitution - Missense(1)	ovary(1)	1											121.0	124.0	123.0					1																	154574369		2203	4300	6503	152840993	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.749C>A	1.37:g.154574369G>T	ENSP00000357459:p.Ala250Asp	Somatic		Capture	Illumina HiSeq	Phase_I	152840993	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668073	0.47677	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12465	2.68;2.7;2.73	2.09	-4.17	0.03857	.	1.204520	0.07030	U	0.828319	T	0.02047	0.0064	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45160	-0.9280	10	0.46703	T	0.11	.	2.574	0.04801	0.5054:0.0:0.2903:0.2043	.	250;250;250	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	D	293;250;245	ENSP00000292205:A293D;ENSP00000357459:A250D;ENSP00000431794:A245D	ENSP00000292205:A293D	A	-	2	0	ADAR	152840993	0.659000	0.27411	0.140000	0.22221	0.142000	0.21351	1.720000	0.38022	-1.131000	0.02910	-0.339000	0.08088	GCT		ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
UBQLN4	56893	hgsc.bcm.edu	37	1	156018300	156018300	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:156018300G>A	ENST00000368309.3	-	5	984	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	298				R -> Q (in Ref. 1; AAF80171). {ECO:0000305}.	regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ACCTGTTCCCGGGCAGCACTG	0.622																																																	0			1											43.0	41.0	42.0					1																	156018300		2203	4300	6503	154284924	SO:0001583	missense	56893			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.892C>T	1.37:g.156018300G>A	ENSP00000357292:p.Arg298Trp	Somatic		Capture	Illumina HiSeq	Phase_I	154284924	A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662911	0.67700	.	.	ENSG00000160803	ENST00000368309	T	0.80909	-1.43	4.35	2.39	0.29439	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.96;0.973	D	0.83610	0.0133	10	0.72032	D	0.01	-10.9081	11.1779	0.48610	0.0:0.0:0.3841:0.6158	.	278;298	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	W	298	ENSP00000357292:R298W	ENSP00000357292:R298W	R	-	1	2	UBQLN4	154284924	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.328000	0.43867	0.428000	0.26173	0.561000	0.74099	CGG		UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131	
SPTA1	6708	hgsc.bcm.edu	37	1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	250					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438																																																	1	Substitution - Missense(1)	prostate(1)	1											101.0	94.0	96.0					1																	158648254		1873	4116	5989	156914878	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.749G>A	1.37:g.158648254C>T	ENSP00000357129:p.Arg250His	Somatic		Capture	Illumina HiSeq	Phase_I	156914878	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133833	0.21123	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.66	0.629	0.17687	.	1.398420	0.05344	N	0.530647	T	0.08582	0.0213	N	0.05383	-0.06	0.24646	N	0.993547	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.25106	T	0.35	.	3.4954	0.07653	0.1633:0.2271:0.0:0.6095	.	250	P02549	SPTA1_HUMAN	H	250	ENSP00000357130:R250H;ENSP00000357129:R250H	ENSP00000357129:R250H	R	-	2	0	SPTA1	156914878	0.986000	0.35501	0.003000	0.11579	0.299000	0.27559	2.102000	0.41796	0.048000	0.15891	-0.300000	0.09419	CGT		SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
F5	2153	hgsc.bcm.edu	37	1	169483638	169483638	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:169483638G>T	ENST00000367797.3	-	25	6789	c.6588C>A	c.(6586-6588)atC>atA	p.I2196I	F5_ENST00000367796.3_Silent_p.I2201I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2196	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACCTGGAAATGATTGGGGGGT	0.343																																																	0			1											76.0	80.0	79.0					1																	169483638		2203	4300	6503	167750262	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6588C>A	1.37:g.169483638G>T		Somatic		Capture	Illumina HiSeq	Phase_I	167750262	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185267298	185267298	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:185267298C>T	ENST00000367498.3	-	15	2420	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.G382R|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	600					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTTGCAATCCCAGCATTGCTC	0.413																																																	0			1											304.0	267.0	280.0					1																	185267298		2203	4300	6503	183533921	SO:0001583	missense	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1798G>A	1.37:g.185267298C>T	ENSP00000356468:p.Gly600Arg	Somatic		Capture	Illumina HiSeq	Phase_I	183533921	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373565	0.82573	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.82711	-1.64;-1.64	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.965;1.0	D	0.92967	0.6394	10	0.72032	D	0.01	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	382;600	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	R	600;382	ENSP00000356468:G600R;ENSP00000375864:G382R	ENSP00000356468:G600R	G	-	1	0	IVNS1ABP	183533921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	GGG		IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
CDC73	79577	hgsc.bcm.edu	37	1	193094274	193094274	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:193094274A>G	ENST00000367435.3	+	2	348	c.164A>G	c.(163-165)tAc>tGc	p.Y55C		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	55					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGAGAGTACTACACATTGGAT	0.358																																																	0			1											146.0	146.0	146.0					1																	193094274		2203	4300	6503	191360897	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.164A>G	1.37:g.193094274A>G	ENSP00000356405:p.Tyr55Cys	Somatic		Capture	Illumina HiSeq	Phase_I	191360897	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609513	0.87258	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.93953	-3.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97749	1.0213	10	0.87932	D	0	-8.2692	16.3009	0.82811	1.0:0.0:0.0:0.0	.	55	Q6P1J9	CDC73_HUMAN	C	55	ENSP00000356405:Y55C	ENSP00000356405:Y55C	Y	+	2	0	CDC73	191360897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.086000	0.94088	2.246000	0.74042	0.533000	0.62120	TAC		CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
PPFIA4	8497	hgsc.bcm.edu	37	1	203024713	203024713	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:203024713G>A	ENST00000447715.2	+	21	2358	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	PPFIA4_ENST00000272198.6_Silent_p.A155A|PPFIA4_ENST00000599966.1_Silent_p.A155A|PPFIA4_ENST00000414050.2_Silent_p.A368A|PPFIA4_ENST00000367240.2_Silent_p.A640A|PPFIA4_ENST00000295706.4_Silent_p.A155A			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	639					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGCCAGCGCGTCCCCACCAC	0.652																																																	0			1											47.0	57.0	54.0					1																	203024713		2157	4252	6409	201291336	SO:0001819	synonymous_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1917G>A	1.37:g.203024713G>A		Somatic		Capture	Illumina HiSeq	Phase_I	201291336	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37																																																																																					PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
USH2A	7399	hgsc.bcm.edu	37	1	216256830	216256830	+	Missense_Mutation	SNP	C	C	A	rs143208990		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:216256830C>A	ENST00000307340.3	-	26	5652	c.5266G>T	c.(5266-5268)Gtt>Ttt	p.V1756F	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1756F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1756	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1756I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTTATAAACGAAAAGAAGC	0.303										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	ovary(1)	1											96.0	100.0	99.0					1																	216256830		2202	4299	6501	214323453	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5266G>T	1.37:g.216256830C>A	ENSP00000305941:p.Val1756Phe	Somatic		Capture	Illumina HiSeq	Phase_I	214323453	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093858	0.56075	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78595	-1.19;-1.19	4.38	-1.89	0.07689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.783880	0.10646	N	0.650406	T	0.79828	0.4513	M	0.63843	1.955	0.20403	N	0.999906	P	0.48834	0.916	P	0.52267	0.694	T	0.72478	-0.4281	10	0.66056	D	0.02	.	11.0688	0.47991	0.0:0.2969:0.0:0.7031	.	1756	O75445	USH2A_HUMAN	F	1756	ENSP00000305941:V1756F;ENSP00000355910:V1756F	ENSP00000305941:V1756F	V	-	1	0	USH2A	214323453	0.008000	0.16893	0.367000	0.25926	0.938000	0.57974	-0.574000	0.05868	-0.673000	0.05259	-0.136000	0.14681	GTT		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu	37	1	216373185	216373185	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:216373185C>T	ENST00000307340.3	-	17	3981	c.3595G>A	c.(3595-3597)Gaa>Aaa	p.E1199K	USH2A_ENST00000366943.2_Missense_Mutation_p.E1199K|USH2A_ENST00000366942.3_Missense_Mutation_p.E1199K|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1199	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCATGACCTTCGTAGGAAACA	0.468										HNSCC(13;0.011)																																							0			1											103.0	108.0	106.0					1																	216373185		2203	4300	6503	214439808	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3595G>A	1.37:g.216373185C>T	ENSP00000305941:p.Glu1199Lys	Somatic		Capture	Illumina HiSeq	Phase_I	214439808	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055730	0.75960	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56275	0.47;0.47;0.47	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000308	T	0.69797	0.3151	M	0.78223	2.4	0.34997	D	0.755624	D;D	0.76494	0.962;0.999	B;P	0.61477	0.239;0.889	T	0.71889	-0.4456	10	0.22706	T	0.39	.	17.0531	0.86525	0.0:0.8734:0.1266:0.0	.	1199;1199	O75445-2;O75445	.;USH2A_HUMAN	K	1199	ENSP00000305941:E1199K;ENSP00000355910:E1199K;ENSP00000355909:E1199K	ENSP00000305941:E1199K	E	-	1	0	USH2A	214439808	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	3.256000	0.51492	2.941000	0.99782	0.655000	0.94253	GAA		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
GALNT2	2590	hgsc.bcm.edu	37	1	230386265	230386265	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:230386265A>G	ENST00000366672.4	+	10	1040	c.968A>G	c.(967-969)aAg>aGg	p.K323R	GALNT2_ENST00000541865.1_Intron|GALNT2_ENST00000543760.1_Missense_Mutation_p.K285R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	323	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K323M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GAACTGGGGAAGTACGACATG	0.502																																																	1	Substitution - Missense(1)	ovary(1)	1											182.0	166.0	171.0					1																	230386265		2203	4300	6503	228452888	SO:0001583	missense	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.968A>G	1.37:g.230386265A>G	ENSP00000355632:p.Lys323Arg	Somatic		Capture	Illumina HiSeq	Phase_I	228452888	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484686	0.63962	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.58797	0.31;0.31	4.43	4.43	0.53597	.	0.136038	0.64402	D	0.000007	T	0.57257	0.2041	M	0.74647	2.275	0.80722	D	1	B;B	0.23316	0.083;0.08	B;B	0.17722	0.014;0.019	T	0.58572	-0.7613	10	0.41790	T	0.15	.	13.6391	0.62239	1.0:0.0:0.0:0.0	.	323;285	Q10471;G3V1S6	GALT2_HUMAN;.	R	285;323;204	ENSP00000445017:K285R;ENSP00000355632:K323R	ENSP00000355632:K323R	K	+	2	0	GALNT2	228452888	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.001000	0.76297	1.761000	0.52028	0.379000	0.24179	AAG		GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
IFITM3	10410	hgsc.bcm.edu	37	11	319855	319855	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:319855A>G	ENST00000399808.4	-	2	621	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L	RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.F108L|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.F108L|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	129	Interaction with VAPA.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.F129V(1)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TAGGCCTGGAAGATCAGCACT	0.587																																																	1	Substitution - Missense(1)	central_nervous_system(1)	11											68.0	70.0	70.0					11																	319855		2029	4178	6207	309855	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.385T>C	11.37:g.319855A>G	ENSP00000382707:p.Phe129Leu	Somatic		Capture	Illumina HiSeq	Phase_I	309855	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.348|0.348	-0.946328|-0.946328	0.02304|0.02304	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000399808;ENST00000526811|ENST00000270031	T;T|.	0.78126|.	-0.9;-1.15|.	2.58|2.58	-5.16|-5.16	0.02857|0.02857	.|.	.|0.215683	.|0.25981	.|U	.|0.027064	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.11665|0.11665	-1.0578|-1.0578	9|7	0.05833|0.51188	T|T	0.94|0.08	1.4325|1.4325	2.1432|2.1432	0.03780|0.03780	0.1561:0.2923:0.4058:0.1459|0.1561:0.2923:0.4058:0.1459	.|.	129|.	Q01628|.	IFM3_HUMAN|.	L|P	129;108|109	ENSP00000382707:F129L;ENSP00000432108:F108L|.	ENSP00000382707:F129L|ENSP00000372047:L109P	F|L	-|-	1|2	0|0	IFITM3|IFITM3	309855|309855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-6.554000|-6.554000	0.00061|0.00061	-2.050000|-2.050000	0.00905|0.00905	-0.420000|-0.420000	0.06012|0.06012	TTC|CTT		IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
IFITM3	10410	hgsc.bcm.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000508004.2_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																																	5	Substitution - coding silent(5)	endometrium(4)|central_nervous_system(1)	11											93.0	98.0	96.0					11																	320649		2062	4173	6235	310649	SO:0001819	synonymous_variant	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A		Somatic		Capture	Illumina HiSeq	Phase_I	310649	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	CCDS41585.1																																																																																				IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
PIK3C2A	5286	hgsc.bcm.edu	37	11	17172174	17172174	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:17172174G>A	ENST00000265970.7	-	3	1197	c.1198C>T	c.(1198-1200)Cac>Tac	p.H400Y	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.H20Y|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	400					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTGTGCGGTGATTGGTATAT	0.363																																																	0			11											165.0	148.0	154.0					11																	17172174		2200	4293	6493	17128750	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1198C>T	11.37:g.17172174G>A	ENSP00000265970:p.His400Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	17128750	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	0.512	-0.866065	0.02590	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.41758	0.99;0.99	5.94	5.94	0.96194	.	0.393472	0.28398	N	0.015486	T	0.23289	0.0563	N	0.19112	0.55	0.28425	N	0.91756	P;P	0.44578	0.838;0.476	B;B	0.37550	0.253;0.062	T	0.23868	-1.0176	10	0.02654	T	1	-2.7413	13.5446	0.61695	0.0709:0.0:0.9291:0.0	.	400;400	F5H5W9;O00443	.;P3C2A_HUMAN	Y	400;20;400	ENSP00000265970:H400Y;ENSP00000438687:H20Y	ENSP00000265970:H400Y	H	-	1	0	PIK3C2A	17128750	1.000000	0.71417	0.948000	0.38648	0.215000	0.24574	3.846000	0.55888	2.807000	0.96579	0.591000	0.81541	CAC		PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
API5	8539	hgsc.bcm.edu	37	11	43343566	43343566	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:43343566T>C	ENST00000531273.1	+	5	562	c.423T>C	c.(421-423)ctT>ctC	p.L141L	API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Silent_p.L141L|API5_ENST00000420461.2_Silent_p.L87L|API5_ENST00000455725.2_Silent_p.L130L|API5_ENST00000534600.1_Silent_p.L141L			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	141	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GCCAAATACTTCAAGGAGAGG	0.368																																					Pancreas(1;98 122 5625 20895 49453)												0			11											118.0	116.0	117.0					11																	43343566		2203	4300	6503	43300142	SO:0001819	synonymous_variant	8539			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.423T>C	11.37:g.43343566T>C		Somatic		Capture	Illumina HiSeq	Phase_I	43300142	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	CCDS44572.1																																																																																				API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595	
PTPMT1	114971	hgsc.bcm.edu	37	11	47593119	47593119	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:47593119T>C	ENST00000326674.9	+	4	566	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.F118L|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	182	Tyrosine-protein phosphatase.				cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCTTAAAGAGTTCCACAAGCA	0.478																																																	0			11											122.0	113.0	116.0					11																	47593119		1901	4129	6030	47549695	SO:0001583	missense	114971			BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.544T>C	11.37:g.47593119T>C	ENSP00000325958:p.Phe182Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47549695	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.940835	0.92526	.	.	ENSG00000110536	ENST00000326656;ENST00000326674	T;T	0.61274	1.82;0.12	5.93	5.93	0.95920	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.075144	0.53938	U	0.000046	T	0.70482	0.3229	M	0.63428	1.95	0.49130	D	0.999757	D;D	0.69078	0.995;0.997	P;P	0.61800	0.894;0.865	T	0.71603	-0.4543	10	0.49607	T	0.09	-8.3213	14.6096	0.68507	0.0:0.0:0.0:1.0	.	118;182	Q8WUK0-2;Q8WUK0	.;PTPM1_HUMAN	L	118;182	ENSP00000325882:F118L;ENSP00000325958:F182L	ENSP00000325882:F118L	F	+	1	0	PTPMT1	47549695	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.376000	0.73141	2.271000	0.75665	0.533000	0.62120	TTC		PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879	
OR5R1	219479	hgsc.bcm.edu	37	11	56184842	56184842	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:56184842G>T	ENST00000312253.1	-	1	866	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTAGACTATAGATTAGGGGGT	0.358																																																	0			11											120.0	120.0	120.0					11																	56184842		2201	4296	6497	55941418	SO:0001819	synonymous_variant	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.867C>A	11.37:g.56184842G>T		Somatic		Capture	Illumina HiSeq	Phase_I	55941418		Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																				OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
VWCE	220001	hgsc.bcm.edu	37	11	61041993	61041993	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:61041993T>C	ENST00000335613.5	-	12	1945	c.1559A>G	c.(1558-1560)gAg>gGg	p.E520G	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	520	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTGGTACACTCGTCACCACC	0.552																																																	0			11											221.0	134.0	163.0					11																	61041993		2203	4299	6502	60798569	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1559A>G	11.37:g.61041993T>C	ENSP00000334186:p.Glu520Gly	Somatic		Capture	Illumina HiSeq	Phase_I	60798569	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830811	0.71258	.	.	ENSG00000167992	ENST00000335613	T	0.64438	-0.1	4.94	3.82	0.43975	von Willebrand factor, type C (3);	0.147353	0.31210	N	0.008041	T	0.48484	0.1502	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	P	0.48454	0.578	T	0.45716	-0.9242	10	0.39692	T	0.17	.	7.7717	0.29012	0.0:0.0966:0.0:0.9034	.	520	Q96DN2	VWCE_HUMAN	G	520	ENSP00000334186:E520G	ENSP00000334186:E520G	E	-	2	0	VWCE	60798569	0.809000	0.29036	0.983000	0.44433	0.981000	0.71138	1.370000	0.34238	1.854000	0.53819	0.459000	0.35465	GAG		VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
PLA2G16	11145	hgsc.bcm.edu	37	11	63357674	63357674	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:63357674C>T	ENST00000323646.5	-	3	639	c.285G>A	c.(283-285)cgG>cgA	p.R95R	PLA2G16_ENST00000415826.1_Silent_p.R95R|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	95					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GCTCCTCCGCCCGCTGGATGA	0.562																																																	0			11											119.0	100.0	106.0					11																	63357674		2201	4298	6499	63114250	SO:0001819	synonymous_variant	11145			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.285G>A	11.37:g.63357674C>T		Somatic		Capture	Illumina HiSeq	Phase_I	63114250	B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Silent	SNP	ENST00000323646.5	37	CCDS8047.1																																																																																				PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203	
NRXN2	9379	hgsc.bcm.edu	37	11	64416248	64416248	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:64416248C>T	ENST00000377551.1	-	15	3452	c.3241G>A	c.(3241-3243)Gac>Aac	p.D1081N	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.D1041N|NRXN2_ENST00000265459.6_Missense_Mutation_p.D1081N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1074N			Q9P2S2	NRX2A_HUMAN	neurexin 2	1081	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.D1081N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAGGGCGTCGGCGATGAGG	0.642																																																	1	Substitution - Missense(1)	ovary(1)	11											91.0	78.0	83.0					11																	64416248		2201	4297	6498	64172824	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3241G>A	11.37:g.64416248C>T	ENSP00000366774:p.Asp1081Asn	Somatic		Capture	Illumina HiSeq	Phase_I	64172824	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094373	0.94149	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.44097	U	0.000496	D	0.88347	0.6412	M	0.72624	2.21	0.80722	D	1	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.77557	0.977;0.701;0.99	D	0.89717	0.3916	10	0.87932	D	0	.	14.7847	0.69793	0.0:1.0:0.0:0.0	.	1041;1081;827	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	N	1081;1041;1081;1041;1074	ENSP00000366774:D1081N;ENSP00000366782:D1041N;ENSP00000265459:D1081N;ENSP00000386416:D1074N	ENSP00000265459:D1081N	D	-	1	0	NRXN2	64172824	1.000000	0.71417	0.936000	0.37596	0.930000	0.56654	7.620000	0.83070	2.345000	0.79718	0.561000	0.74099	GAC		NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
RPS6KB2	6199	hgsc.bcm.edu	37	11	67201684	67201684	+	Missense_Mutation	SNP	C	C	T	rs376762664		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:67201684C>T	ENST00000312629.5	+	12	1030	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	329	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCCTTTTTCCGGCACATGAA	0.647																																																	0			11						C	TRP/ARG	2,4140		0,2,2069	261.0	290.0	280.0		985	3.7	1.0	11		280	0,8404		0,0,4202	no	missense	RPS6KB2	NM_003952.2	101	0,2,6271	TT,TC,CC		0.0,0.0483,0.0159	probably-damaging	329/483	67201684	2,12544	2071	4202	6273	66958260	SO:0001583	missense	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.985C>T	11.37:g.67201684C>T	ENSP00000308413:p.Arg329Trp	Somatic		Capture	Illumina HiSeq	Phase_I	66958260	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510221	0.44660	4.83E-4	0.0	ENSG00000175634	ENST00000312629	T	0.54479	0.57	4.63	3.71	0.42584	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.072300	0.52532	D	0.000078	T	0.73845	0.3639	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67548	0.941;0.952	T	0.78545	-0.2163	10	0.87932	D	0	.	10.9313	0.47220	0.3404:0.6596:0.0:0.0	.	329;329	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	329	ENSP00000308413:R329W	ENSP00000308413:R329W	R	+	1	2	RPS6KB2	66958260	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	1.471000	0.35365	1.140000	0.42260	0.462000	0.41574	CGG		RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	
ALDH3B2	222	hgsc.bcm.edu	37	11	67433013	67433013	+	Missense_Mutation	SNP	C	C	T	rs150455483		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:67433013C>T	ENST00000349015.3	-	7	887	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150H|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					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						CCAGGCCACGCGGTTGGCCAC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.001		0.0	False		,,,				2504	0.0																0			11						C	HIS/ARG,HIS/ARG	8,4392	14.3+/-33.2	0,8,2192	109.0	119.0	116.0		449,449	2.1	0.6	11	dbSNP_134	116	0,8588		0,0,4294	no	missense,missense	ALDH3B2	NM_000695.3,NM_001031615.1	29,29	0,8,6486	TT,TC,CC		0.0,0.1818,0.0616	probably-damaging,probably-damaging	150/386,150/386	67433013	8,12980	2200	4294	6494	67189589	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.449G>A	11.37:g.67433013C>T	ENSP00000255084:p.Arg150His	Somatic		Capture	Illumina HiSeq	Phase_I	67189589	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.6	4.173277	0.78452	0.001818	0.0	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.76578	-1.03;-1.03	4.06	2.13	0.27403	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	U	0.000000	D	0.89385	0.6700	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.89438	0.3721	10	0.87932	D	0	.	10.4571	0.44557	0.1513:0.703:0.1457:0.0	.	35;150	B4DSX1;P48448	.;AL3B2_HUMAN	H	150	ENSP00000431595:R150H;ENSP00000255084:R150H	ENSP00000255084:R150H	R	-	2	0	ALDH3B2	67189589	0.997000	0.39634	0.625000	0.29200	0.665000	0.39181	3.696000	0.54757	0.460000	0.27045	-0.359000	0.07587	CGC		ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
MTNR1B	4544	hgsc.bcm.edu	37	11	92714759	92714759	+	Missense_Mutation	SNP	G	G	A	rs145440211	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:92714759G>A	ENST00000257068.2	+	2	376	c.370G>A	c.(370-372)Gtc>Atc	p.V124I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	124					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GGGCCTGAGCGTCATCGGCTC	0.592																																																	0			11						G	ILE/VAL	2,4400	4.2+/-10.8	0,2,2199	146.0	131.0	136.0		370	4.0	1.0	11	dbSNP_134	136	10,8586	7.7+/-29.5	0,10,4288	yes	missense	MTNR1B	NM_005959.3	29	0,12,6487	AA,AG,GG		0.1163,0.0454,0.0923	probably-damaging	124/363	92714759	12,12986	2201	4298	6499	92354407	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.370G>A	11.37:g.92714759G>A	ENSP00000257068:p.Val124Ile	Somatic		Capture	Illumina HiSeq	Phase_I	92354407		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139846	0.77775	4.54E-4	0.001163	ENSG00000134640	ENST00000257068	T	0.72394	-0.65	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.82986	0.5156	M	0.76574	2.34	0.58432	D	0.999993	D	0.89917	1.0	D	0.76575	0.988	D	0.84356	0.0535	10	0.46703	T	0.11	-49.6579	16.6059	0.84828	0.0:0.0:1.0:0.0	.	124	P49286	MTR1B_HUMAN	I	124	ENSP00000257068:V124I	ENSP00000257068:V124I	V	+	1	0	MTNR1B	92354407	1.000000	0.71417	0.953000	0.39169	0.933000	0.57130	5.751000	0.68720	2.220000	0.72140	0.491000	0.48974	GTC		MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
MMP10	4319	hgsc.bcm.edu	37	11	102650015	102650015	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:102650015T>C	ENST00000279441.4	-	3	461	c.425A>G	c.(424-426)gAg>gGg	p.E142G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	142			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGGAGTCACCTCTTCCCAGAC	0.408																																																	0			11											169.0	167.0	168.0					11																	102650015		2203	4299	6502	102155225	SO:0001583	missense	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.425A>G	11.37:g.102650015T>C	ENSP00000279441:p.Glu142Gly	Somatic		Capture	Illumina HiSeq	Phase_I	102155225	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	t	8.855	0.945541	0.18356	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.53423	2.2;0.62	4.38	3.23	0.37069	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.487757	0.19607	N	0.110241	T	0.51517	0.1679	L	0.49256	1.55	0.23314	N	0.99793	D	0.57899	0.981	P	0.57283	0.817	T	0.35968	-0.9767	10	0.46703	T	0.11	.	6.0888	0.19983	0.0:0.1282:0.1515:0.7203	.	142	P09238	MMP10_HUMAN	G	142	ENSP00000279441:E142G;ENSP00000441485:E142G	ENSP00000279441:E142G	E	-	2	0	MMP10	102155225	0.000000	0.05858	1.000000	0.80357	0.459000	0.32528	-0.082000	0.11304	0.800000	0.34041	0.482000	0.46254	GAG		MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
MMP13	4322	hgsc.bcm.edu	37	11	102826346	102826346	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:102826346T>C	ENST00000260302.3	-	1	117	c.89A>G	c.(88-90)gAt>gGt	p.D30G	MMP13_ENST00000340273.4_Missense_Mutation_p.D30G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	30					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTCAGACAAATCATCTTCATC	0.502																																																	0			11											113.0	101.0	105.0					11																	102826346		2202	4299	6501	102331556	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.89A>G	11.37:g.102826346T>C	ENSP00000260302:p.Asp30Gly	Somatic		Capture	Illumina HiSeq	Phase_I	102331556	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	T	8.414	0.844909	0.16963	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.36520	1.25;1.25	5.62	4.49	0.54785	Metallopeptidase, catalytic domain (1);	0.422167	0.28742	N	0.014293	T	0.18759	0.0450	N	0.08118	0	0.24237	N	0.995371	B	0.31026	0.304	B	0.26693	0.072	T	0.11817	-1.0572	10	0.33141	T	0.24	.	11.8916	0.52633	0.0:0.0686:0.0:0.9314	.	30	P45452	MMP13_HUMAN	G	30	ENSP00000260302:D30G;ENSP00000339672:D30G	ENSP00000260302:D30G	D	-	2	0	MMP13	102331556	0.671000	0.27521	0.040000	0.18447	0.120000	0.20174	3.454000	0.52986	1.052000	0.40392	0.533000	0.62120	GAT		MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
ATM	472	hgsc.bcm.edu	37	11	108200957	108200957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:108200957C>T	ENST00000452508.2	+	51	7513	c.7324C>T	c.(7324-7326)Cag>Tag	p.Q2442*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.Q2442*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2442	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		Q -> P (in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGTAAAGGTTCAGCGAGAGCT	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											83.0	88.0	86.0					11																	108200957		2201	4298	6499	107706167	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7324C>T	11.37:g.108200957C>T	ENSP00000388058:p.Gln2442*	Somatic		Capture	Illumina HiSeq	Phase_I	107706167	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	49	15.217711	0.99826	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	4.7	4.7	0.59300	.	0.105878	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9756	0.86312	0.0:1.0:0.0:0.0	.	.	.	.	X	2442	.	ENSP00000278616:Q2442X	Q	+	1	0	ATM	107706167	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.430000	0.66501	2.293000	0.77203	0.561000	0.74099	CAG		ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
CCDC84	338657	hgsc.bcm.edu	37	11	118886110	118886110	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr11:118886110T>C	ENST00000334418.1	+	10	955	c.899T>C	c.(898-900)tTt>tCt	p.F300S	RPS25_ENST00000528547.1_5'Flank	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	300										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGCCCTCTTTTGGCCGCGTC	0.542																																																	0			11											38.0	40.0	40.0					11																	118886110		2200	4294	6494	118391320	SO:0001583	missense	338657			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.899T>C	11.37:g.118886110T>C	ENSP00000334767:p.Phe300Ser	Somatic		Capture	Illumina HiSeq	Phase_I	118391320		Missense_Mutation	SNP	ENST00000334418.1	37	CCDS8405.1	.	.	.	.	.	.	.	.	.	.	T	32	5.161437	0.94727	.	.	ENSG00000186166	ENST00000334418	T	0.73258	-0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.79011	2.435	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	D	0.86476	0.1788	10	0.87932	D	0	-12.6706	16.0796	0.80995	0.0:0.0:0.0:1.0	.	300	Q86UT8	CCD84_HUMAN	S	300	ENSP00000334767:F300S	ENSP00000334767:F300S	F	+	2	0	CCDC84	118391320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.539000	0.82063	2.206000	0.71126	0.533000	0.62120	TTT		CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1	NM_198489	
GCM2	9247	hgsc.bcm.edu	37	6	10875153	10875153	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:10875153T>A	ENST00000379491.4	-	5	743	c.596A>T	c.(595-597)cAa>cTa	p.Q199L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	199					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACTGCTGTCTTGATTTTCTTC	0.413																																																	0			6											89.0	85.0	86.0					6																	10875153		2203	4300	6503	10983139	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.596A>T	6.37:g.10875153T>A	ENSP00000368805:p.Gln199Leu	Somatic		Capture	Illumina HiSeq	Phase_I	10983139	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.524344	0.27299	.	.	ENSG00000124827	ENST00000379491	T	0.69175	-0.38	5.72	1.92	0.25849	.	0.591630	0.19001	N	0.125359	T	0.41050	0.1142	L	0.56769	1.78	0.80722	D	1	P	0.42409	0.779	B	0.35470	0.203	T	0.29610	-1.0006	10	0.51188	T	0.08	-3.4057	8.7699	0.34726	0.0:0.0643:0.3648:0.5708	.	199	O75603	GCM2_HUMAN	L	199	ENSP00000368805:Q199L	ENSP00000368805:Q199L	Q	-	2	0	GCM2	10983139	1.000000	0.71417	0.111000	0.21465	0.300000	0.27592	1.035000	0.30216	0.092000	0.17331	0.482000	0.46254	CAA		GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
RNF182	221687	hgsc.bcm.edu	37	6	13977523	13977523	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:13977523C>T	ENST00000488300.1	+	3	696	c.173C>T	c.(172-174)cCa>cTa	p.P58L	RNF182_ENST00000537663.1_Missense_Mutation_p.P58L|RNF182_ENST00000537388.1_Missense_Mutation_p.P58L|RNF182_ENST00000544682.1_Missense_Mutation_p.P58L	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	58			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P58L(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGGGACTCCCCACAAGGTGTC	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)	6											159.0	151.0	153.0					6																	13977523		2203	4300	6503	14085502	SO:0001583	missense	221687			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.173C>T	6.37:g.13977523C>T	ENSP00000420465:p.Pro58Leu	Somatic		Capture	Illumina HiSeq	Phase_I	14085502	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426921	0.83667	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;T;T;D	0.87966	-2.32;-2.32;-2.32;-0.18;-0.18;-2.32	5.52	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.229579	0.44688	D	0.000424	T	0.81427	0.4820	L	0.45744	1.44	0.58432	D	0.999999	P	0.45044	0.849	P	0.45998	0.5	T	0.80845	-0.1200	9	.	.	.	-9.9645	14.7335	0.69399	0.0:0.9288:0.0:0.0712	.	58	Q8N6D2	RN182_HUMAN	L	58	ENSP00000443228:P58L;ENSP00000420465:P58L;ENSP00000442021:P58L;ENSP00000419329:P58L;ENSP00000418717:P58L;ENSP00000441271:P58L	.	P	+	2	0	RNF182	14085502	0.999000	0.42202	0.942000	0.38095	0.986000	0.74619	4.552000	0.60747	2.600000	0.87896	0.563000	0.77884	CCA		RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737	
HIST1H1T	3010	hgsc.bcm.edu	37	6	26107987	26107987	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:26107987C>T	ENST00000338379.4	-	1	377	c.335G>A	c.(334-336)aGt>aAt	p.S112N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	112	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S112T(1)		breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CACCTTCTTACTAAGCTTAAA	0.458																																																	1	Substitution - Missense(1)	ovary(1)	6											93.0	90.0	91.0					6																	26107987		2203	4300	6503	26215966	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.335G>A	6.37:g.26107987C>T	ENSP00000341214:p.Ser112Asn	Somatic		Capture	Illumina HiSeq	Phase_I	26215966	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.497194	0.01001	.	.	ENSG00000187475	ENST00000338379	T	0.10099	2.91	5.38	1.3	0.21679	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.360243	0.30714	N	0.009030	T	0.00815	0.0027	N	0.02403	-0.565	0.26339	N	0.977393	B	0.11235	0.004	B	0.15484	0.013	T	0.47636	-0.9102	10	0.02654	T	1	-19.109	8.6391	0.33966	0.0:0.5711:0.0:0.4289	.	112	P22492	H1T_HUMAN	N	112	ENSP00000341214:S112N	ENSP00000341214:S112N	S	-	2	0	HIST1H1T	26215966	0.000000	0.05858	0.614000	0.29051	0.091000	0.18340	-2.693000	0.00829	0.380000	0.24823	0.655000	0.94253	AGT		HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323	
OR5V1	81696	hgsc.bcm.edu	37	6	29323192	29323192	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:29323192G>A	ENST00000377154.1	-	4	1080	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	OR5V1_ENST00000543825.1_Missense_Mutation_p.R261W			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGATGGGCCGTACATATGTA	0.438																																					Ovarian(32;43 883 21137 32120 42650)												0			6											88.0	86.0	87.0					6																	29323192		2203	4299	6502	29431171	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.781C>T	6.37:g.29323192G>A	ENSP00000366359:p.Arg261Trp	Somatic		Capture	Illumina HiSeq	Phase_I	29431171	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337124	0.41398	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.37915	1.17;1.17	4.53	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.279943	0.18565	N	0.137514	T	0.44074	0.1276	M	0.79805	2.47	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31194	-0.9952	10	0.72032	D	0.01	-6.5251	9.3018	0.37851	0.0:0.1216:0.417:0.4614	.	261	Q9UGF6	OR5V1_HUMAN	W	261	ENSP00000366359:R261W;ENSP00000443309:R261W	ENSP00000366356:R261W	R	-	1	2	OR5V1	29431171	0.000000	0.05858	0.019000	0.16419	0.675000	0.39556	-2.036000	0.01421	0.168000	0.19655	0.543000	0.68304	CGG		OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
C6orf106	64771	hgsc.bcm.edu	37	6	34574605	34574605	+	Silent	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:34574605C>A	ENST00000374023.3	-	4	831	c.588G>T	c.(586-588)acG>acT	p.T196T	C6orf106_ENST00000374026.3_Silent_p.T130T|C6orf106_ENST00000374021.1_Silent_p.T122T	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	196								p.T196T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TGTTGAACTCCGTTTCAAAAG	0.438																																																	1	Substitution - coding silent(1)	ovary(1)	6											85.0	76.0	79.0					6																	34574605		2203	4300	6503	34682583	SO:0001819	synonymous_variant	64771			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.588G>T	6.37:g.34574605C>A		Somatic		Capture	Illumina HiSeq	Phase_I	34682583	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	37	CCDS4796.1																																																																																				C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758	
KCNK17	89822	hgsc.bcm.edu	37	6	39271748	39271748	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:39271748C>T	ENST00000373231.4	-	4	905	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	KCNK17_ENST00000453413.2_Missense_Mutation_p.G225S	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	225					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGTAGTCGCCGAAGCCCACG	0.622																																																	0			6											96.0	91.0	93.0					6																	39271748		2203	4300	6503	39379726	SO:0001583	missense	89822			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.673G>A	6.37:g.39271748C>T	ENSP00000362328:p.Gly225Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39379726	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430356	0.83776	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	D;D	0.90133	-1.65;-2.62	4.31	3.42	0.39159	Ion transport 2 (1);	0.000000	0.56097	D	0.000025	D	0.96175	0.8753	H	0.97540	4.025	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96582	0.9431	10	0.87932	D	0	.	11.6011	0.51003	0.0:0.9089:0.0:0.0911	.	225;225	E9PB46;Q96T54	.;KCNKH_HUMAN	S	225	ENSP00000362328:G225S;ENSP00000401271:G225S	ENSP00000362328:G225S	G	-	1	0	KCNK17	39379726	1.000000	0.71417	0.988000	0.46212	0.737000	0.42083	5.137000	0.64789	0.980000	0.38523	0.561000	0.74099	GGC		KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
POLH	5429	hgsc.bcm.edu	37	6	43555194	43555194	+	Missense_Mutation	SNP	G	G	T	rs367709714		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:43555194G>T	ENST00000372236.4	+	4	753	c.458G>T	c.(457-459)gGc>gTc	p.G153V	POLH_ENST00000372226.1_Missense_Mutation_p.G153V|POLH_ENST00000535400.1_Missense_Mutation_p.G91V|RP3-337H4.8_ENST00000417591.1_RNA	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.G153D(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTGCCCCAAGGCCCTACAACG	0.488								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																								2	Substitution - Missense(2)	breast(2)	6											102.0	87.0	92.0					6																	43555194		2203	4300	6503	43663172	SO:0001583	missense	10721	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.458G>T	6.37:g.43555194G>T	ENSP00000361310:p.Gly153Val	Somatic		Capture	Illumina HiSeq	Phase_I	43663172	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	1.119	-0.655736	0.03480	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.69806	-0.43;-0.43;-0.43	5.63	2.92	0.33932	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	1.057510	0.07300	N	0.873957	T	0.24236	0.0587	N	0.08118	0	0.20563	N	0.999888	P	0.36010	0.532	B	0.33960	0.173	T	0.15838	-1.0423	10	0.26408	T	0.33	-12.9737	10.1928	0.43037	0.2127:0.0:0.7873:0.0	.	153	Q9Y253	POLH_HUMAN	V	153;91;153	ENSP00000361310:G153V;ENSP00000442102:G91V;ENSP00000361300:G153V	ENSP00000361300:G153V	G	+	2	0	POLH	43663172	0.060000	0.20803	0.017000	0.16124	0.158000	0.22134	0.742000	0.26216	0.330000	0.23485	-0.225000	0.12378	GGC		POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502	
GPR115	221393	hgsc.bcm.edu	37	6	47682172	47682172	+	Silent	SNP	C	C	T	rs367867105		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:47682172C>T	ENST00000283303.2	+	6	1449	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	GPR115_ENST00000327753.3_Silent_p.T397T|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Silent_p.T454T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	397					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AATCGATGACCGACAAAGTTC	0.483																																					GBM(22;431 510 9010 26644 32828)												0			6						C		0,4406		0,0,2203	154.0	119.0	131.0		1191	-10.5	0.0	6		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR115	NM_153838.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		397/696	47682172	1,13005	2203	4300	6503	47790131	SO:0001819	synonymous_variant	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1191C>T	6.37:g.47682172C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47790131	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	CCDS4922.2																																																																																				GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
PKHD1	5314	hgsc.bcm.edu	37	6	51497506	51497506	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:51497506G>T	ENST00000371117.3	-	65	11797	c.11522C>A	c.(11521-11523)gCt>gAt	p.A3841D		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3841					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A3841V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGGATCGAGCTGTAAAATT	0.418																																																	1	Substitution - Missense(1)	ovary(1)	6											76.0	76.0	76.0					6																	51497506		2203	4300	6503	51605465	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11522C>A	6.37:g.51497506G>T	ENSP00000360158:p.Ala3841Asp	Somatic		Capture	Illumina HiSeq	Phase_I	51605465	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694061	0.48202	.	.	ENSG00000170927	ENST00000371117	D	0.87571	-2.27	5.69	3.58	0.41010	.	0.162496	0.41712	D	0.000834	T	0.81740	0.4886	M	0.62723	1.935	0.80722	D	1	P	0.50272	0.933	P	0.48030	0.564	D	0.83429	0.0037	10	0.72032	D	0.01	.	7.7796	0.29058	0.2521:0.0:0.7479:0.0	.	3841	P08F94	PKHD1_HUMAN	D	3841	ENSP00000360158:A3841D	ENSP00000360158:A3841D	A	-	2	0	PKHD1	51605465	0.998000	0.40836	1.000000	0.80357	0.321000	0.28281	0.621000	0.24418	1.403000	0.46800	0.650000	0.86243	GCT		PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
KLHL31	401265	hgsc.bcm.edu	37	6	53518999	53518999	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:53518999G>T	ENST00000407079.1	-	1	1071	c.1072C>A	c.(1072-1074)Cag>Aag	p.Q358K	KLHL31_ENST00000370905.3_Missense_Mutation_p.Q358K			Q9H511	KLH31_HUMAN	kelch-like family member 31	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Q358*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCACACACTGATTAAAACTT	0.458																																																	1	Substitution - Nonsense(1)	ovary(1)	6											114.0	109.0	111.0					6																	53518999		2203	4300	6503	53626958	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1072C>A	6.37:g.53518999G>T	ENSP00000384644:p.Gln358Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53626958	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895610	0.72639	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.66280	-0.2;-0.2	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.42245	1.32	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63097	-0.6713	10	0.31617	T	0.26	.	18.8839	0.92367	0.0:0.0:1.0:0.0	.	358	Q9H511	KLH31_HUMAN	K	358	ENSP00000359942:Q358K;ENSP00000384644:Q358K	ENSP00000359942:Q358K	Q	-	1	0	KLHL31	53626958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.467000	0.83353	0.561000	0.74099	CAG		KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760	
DST	667	hgsc.bcm.edu	37	6	56497760	56497760	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:56497760C>A	ENST00000361203.3	-	24	3071	c.3064G>T	c.(3064-3066)Gat>Tat	p.D1022Y	DST_ENST00000370754.5_Missense_Mutation_p.D1200Y|DST_ENST00000446842.2_Missense_Mutation_p.D696Y|DST_ENST00000370769.4_Missense_Mutation_p.D1022Y|DST_ENST00000518935.1_Missense_Mutation_p.D696Y|DST_ENST00000370765.6_Missense_Mutation_p.D696Y|DST_ENST00000312431.6_Missense_Mutation_p.D1022Y|DST_ENST00000370788.2_Missense_Mutation_p.D1022Y|DST_ENST00000421834.2_Missense_Mutation_p.D1022Y|DST_ENST00000244364.6_Missense_Mutation_p.D696Y			Q03001	DYST_HUMAN	dystonin	1022					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGGCTATCTTCCAGAAAA	0.368																																																	0			6											112.0	109.0	110.0					6																	56497760		2203	4300	6503	56605719	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3064G>T	6.37:g.56497760C>A	ENSP00000354508:p.Asp1022Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	56605719	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.870441	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.62551	0.2437	M	0.84683	2.71	0.37157	D	0.902431	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999;1.0;1.0;0.998	D;D;D;D;D;D;D;D	0.85130	0.95;0.997;0.95;0.929;0.993;0.997;0.95;0.964	T	0.66488	-0.5911	9	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1022;1022;1200;696;696;696;1022;696	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Y	696;1200;1022;1022;696;1022;1022;1022;696;1062;696;696	ENSP00000244364:D696Y;ENSP00000359790:D1200Y;ENSP00000359805:D1022Y;ENSP00000400883:D1022Y;ENSP00000393645:D696Y;ENSP00000307959:D1022Y;ENSP00000359824:D1022Y;ENSP00000354508:D1022Y;ENSP00000404924:D696Y;ENSP00000431030:D1062Y;ENSP00000359801:D696Y;ENSP00000431003:D696Y	ENSP00000244364:D696Y	D	-	1	0	DST	56605719	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.427000	0.80284	2.861000	0.98227	0.655000	0.94253	GAT		DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
COL19A1	1310	hgsc.bcm.edu	37	6	70900047	70900047	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:70900047A>G	ENST00000322773.4	+	48	3158	c.3056A>G	c.(3055-3057)aAg>aGg	p.K1019R	COL19A1_ENST00000393344.1_Missense_Mutation_p.K641R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1019			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAAGAAATAAAGAAGTATATT	0.313																																																	0			6											66.0	67.0	67.0					6																	70900047		2203	4300	6503	70956768	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3056A>G	6.37:g.70900047A>G	ENSP00000316030:p.Lys1019Arg	Somatic		Capture	Illumina HiSeq	Phase_I	70956768	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.970916	0.53614	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.91464	-2.85;-2.78	5.46	5.46	0.80206	.	0.058605	0.64402	D	0.000005	T	0.75384	0.3842	N	0.16790	0.44	0.30518	N	0.768761	B	0.34200	0.441	B	0.32465	0.146	T	0.75269	-0.3377	10	0.49607	T	0.09	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	1019	Q14993	COJA1_HUMAN	R	1019;641;94	ENSP00000316030:K1019R;ENSP00000377013:K641R	ENSP00000316030:K1019R	K	+	2	0	COL19A1	70956768	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.001000	0.63946	2.197000	0.70478	0.533000	0.62120	AAG		COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
UBE3D	90025	hgsc.bcm.edu	37	6	83667113	83667113	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:83667113G>T	ENST00000369747.3	-	9	1189	c.1067C>A	c.(1066-1068)gCa>gAa	p.A356E		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	356	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.A356V(1)									CAAGCAGGTTGCAGAGGGCAG	0.463																																																	1	Substitution - Missense(1)	ovary(1)	6											121.0	98.0	106.0					6																	83667113		2203	4300	6503	83723832	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1067C>A	6.37:g.83667113G>T	ENSP00000358762:p.Ala356Glu	Somatic		Capture	Illumina HiSeq	Phase_I	83723832	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	4.893	0.166003	0.09339	.	.	ENSG00000118420	ENST00000369747	T	0.28454	1.61	5.57	4.62	0.57501	.	0.622429	0.17964	N	0.156098	T	0.06917	0.0176	N	0.22421	0.69	0.43890	D	0.996515	B	0.14438	0.01	B	0.10450	0.005	T	0.09552	-1.0669	10	0.02654	T	1	-4.8493	10.2709	0.43483	0.0:0.0:0.7082:0.2918	.	356	Q7Z6J8	UB2CB_HUMAN	E	356	ENSP00000358762:A356E	ENSP00000358762:A356E	A	-	2	0	UBE2CBP	83723832	0.937000	0.31787	0.893000	0.35052	0.982000	0.71751	3.490000	0.53245	2.628000	0.89032	0.462000	0.41574	GCA		UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920	
ZNF292	23036	hgsc.bcm.edu	37	6	87968046	87968046	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:87968046T>C	ENST00000369577.3	+	8	4742	c.4699T>C	c.(4699-4701)Ttg>Ctg	p.L1567L	ZNF292_ENST00000339907.4_Silent_p.L1562L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1567						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGTAGCAGCTTGCCTGTTTT	0.433																																																	0			6											77.0	75.0	76.0					6																	87968046		1970	4154	6124	88024765	SO:0001819	synonymous_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4699T>C	6.37:g.87968046T>C		Somatic		Capture	Illumina HiSeq	Phase_I	88024765	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
LAMA4	3910	hgsc.bcm.edu	37	6	112508764	112508764	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:112508764C>T	ENST00000230538.7	-	8	1251	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.R278Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R278Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R278Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	285	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R278Q(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGCTGCTAACCGCAGTGCATC	0.537																																																	1	Substitution - Missense(1)	lung(1)	6											78.0	64.0	69.0					6																	112508764		2203	4300	6503	112615457	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.854G>A	6.37:g.112508764C>T	ENSP00000230538:p.Arg285Gln	Somatic		Capture	Illumina HiSeq	Phase_I	112615457	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.576317|4.576317	0.86645|0.86645	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|T;T;T;T;T	.|0.27256	.|2.6;2.63;2.63;2.63;1.68	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.124420	.|0.51477	.|D	.|0.000099	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.994;0.996	.|P;P	.|0.54174	.|0.559;0.744	T|T	0.00331|0.00331	-1.1811|-1.1811	5|10	.|0.28530	.|T	.|0.3	.|.	20.2822|20.2822	0.98520|0.98520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|285;278	.|Q16363;Q16363-2	.|LAMA4_HUMAN;.	S|Q	89|285;278;278;278;285;285;278	.|ENSP00000230538:R285Q;ENSP00000429488:R278Q;ENSP00000374114:R278Q;ENSP00000416470:R278Q;ENSP00000430336:R285Q	.|ENSP00000230538:R285Q	G|R	-|-	1|2	0|0	LAMA4|LAMA4	112615457|112615457	0.892000|0.892000	0.30473|0.30473	0.965000|0.965000	0.40720|0.40720	0.558000|0.558000	0.35554|0.35554	1.735000|1.735000	0.38176|0.38176	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GGT|CGG		LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
FRK	2444	hgsc.bcm.edu	37	6	116325073	116325073	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:116325073T>C	ENST00000606080.1	-	2	879	c.433A>G	c.(433-435)Agt>Ggt	p.S145G	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	145	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TGGCTTTCACTTTCTCTGATT	0.388																																																	0			6											92.0	85.0	87.0					6																	116325073		2203	4300	6503	116431766	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.433A>G	6.37:g.116325073T>C	ENSP00000476145:p.Ser145Gly	Somatic		Capture	Illumina HiSeq	Phase_I	116431766	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443095	0.83993	.	.	ENSG00000111816	ENST00000368626	D	0.95035	-3.59	5.97	5.97	0.96955	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	H	0.97829	4.085	0.80722	D	1	P	0.46859	0.885	P	0.45610	0.487	D	0.97478	1.0045	10	0.62326	D	0.03	.	16.0825	0.81014	0.0:0.0:0.0:1.0	.	145	P42685	FRK_HUMAN	G	145	ENSP00000357615:S145G	ENSP00000357615:S145G	S	-	1	0	FRK	116431766	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.897000	0.48664	2.278000	0.76064	0.533000	0.62120	AGT		FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
L3MBTL3	84456	hgsc.bcm.edu	37	6	130376383	130376383	+	Missense_Mutation	SNP	C	C	T	rs368839890		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:130376383C>T	ENST00000529410.1	+	10	1129	c.650C>T	c.(649-651)tCg>tTg	p.S217L	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S192L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S192L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S192L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S217L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S217L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	217					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S217L(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CGAGGGGATTCGGCTGTACTA	0.398																																																	1	Substitution - Missense(1)	endometrium(1)	6						C	LEU/SER,LEU/SER	0,4406		0,0,2203	108.0	115.0	113.0		575,650	5.4	0.0	6		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	L3MBTL3	NM_001007102.2,NM_032438.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	192/756,217/781	130376383	1,13005	2203	4300	6503	130418076	SO:0001583	missense	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.650C>T	6.37:g.130376383C>T	ENSP00000431962:p.Ser217Leu	Somatic		Capture	Illumina HiSeq	Phase_I	130418076	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799260	0.50208	0.0	1.16E-4	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14766	2.49;2.48;2.49;2.48;2.48;2.49	5.39	5.39	0.77823	.	0.871122	0.10202	N	0.703320	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.13407	0.009;0.0	T	0.41875	-0.9484	10	0.29301	T	0.29	.	9.1245	0.36807	0.0:0.8698:0.0:0.1302	.	192;217	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	L	217;192;217;192;192;217	ENSP00000431962:S217L;ENSP00000437185:S192L;ENSP00000354526:S217L;ENSP00000357121:S192L;ENSP00000436706:S192L;ENSP00000357118:S217L	ENSP00000354526:S217L	S	+	2	0	L3MBTL3	130418076	0.005000	0.15991	0.007000	0.13788	0.676000	0.39594	2.074000	0.41529	2.703000	0.92315	0.447000	0.29281	TCG		L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	
SYNE1	23345	hgsc.bcm.edu	37	6	152590380	152590380	+	Silent	SNP	T	T	A	rs552884641		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr6:152590380T>A	ENST00000367255.5	-	99	19216	c.18615A>T	c.(18613-18615)acA>acT	p.T6205T	SYNE1_ENST00000265368.4_Silent_p.T6205T|SYNE1_ENST00000356820.4_Silent_p.T729T|SYNE1_ENST00000448038.1_Silent_p.T6134T|SYNE1_ENST00000423061.1_Silent_p.T6134T|SYNE1_ENST00000341594.5_Silent_p.T5817T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6205					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCGTGGCTGTTAGGTCAA	0.542										HNSCC(10;0.0054)																																							0			6											160.0	125.0	137.0					6																	152590380		2203	4300	6503	152632073	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18615A>T	6.37:g.152590380T>A		Somatic		Capture	Illumina HiSeq	Phase_I	152632073	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TRPV3	162514	hgsc.bcm.edu	37	17	3448549	3448549	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:3448549C>G	ENST00000576742.1	-	3	457	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	TRPV3_ENST00000301365.4_Missense_Mutation_p.E46Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.E46Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	46					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCTTCTATCTCCAGGAAGAAG	0.597																																																	0			17											110.0	93.0	99.0					17																	3448549		2203	4300	6503	3395299	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.136G>C	17.37:g.3448549C>G	ENSP00000461518:p.Glu46Gln	Somatic		Capture	Illumina HiSeq	Phase_I	3395299	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362981	0.61403	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.43294	0.95	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000006	T	0.51329	0.1668	N	0.24115	0.695	0.35234	D	0.777163	D;D;B;D;D;B;B	0.67145	0.996;0.993;0.376;0.993;0.996;0.295;0.419	D;D;B;D;D;B;B	0.78314	0.991;0.979;0.1;0.979;0.991;0.123;0.244	T	0.63413	-0.6643	10	0.72032	D	0.01	-15.5485	16.2359	0.82375	0.0:1.0:0.0:0.0	.	30;30;46;30;46;46;46	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	46;46;30	ENSP00000301365:E46Q	ENSP00000301365:E46Q	E	-	1	0	TRPV3	3395299	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.257000	0.58816	2.579000	0.87056	0.561000	0.74099	GAG		TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
TP53	7157	hgsc.bcm.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	T	rs587782529		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:7574018G>T	ENST00000269305.4	-	10	1198	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337S|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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"""	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	17	GRCh37	CM981929	TP53	M							56.0	44.0	48.0					17																	7574018		2203	4300	6503	7514743	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.1009C>A	17.37:g.7574018G>T	ENSP00000269305:p.Arg337Ser	Somatic		Capture	Illumina HiSeq	Phase_I	7514743	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	13.67	2.306095	0.40795	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95069	-3.6;-3.6	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.82323	2.585	0.37100	D	0.899832	D	0.62365	0.991	D	0.66716	0.946	D	0.97762	1.0221	10	0.72032	D	0.01	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	S	337;337;326	ENSP00000269305:R337S;ENSP00000391478:R337S	ENSP00000269305:R337S	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_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)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	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	Somatic		Capture	Illumina HiSeq	Phase_I	7517846	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		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7579404	7579404	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:7579404A>G	ENST00000269305.4	-	4	472	c.283T>C	c.(283-285)Tct>Cct	p.S95P	TP53_ENST00000359597.4_Missense_Mutation_p.S95P|TP53_ENST00000413465.2_Missense_Mutation_p.S95P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.S95P|TP53_ENST00000420246.2_Missense_Mutation_p.S95P|TP53_ENST00000455263.2_Missense_Mutation_p.S95P	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	95	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; 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.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)	GGGACAGAAGATGACAGGGGC	0.627		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"""	16	Whole gene deletion(8)|Deletion - Frameshift(8)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	17											47.0	51.0	50.0					17																	7579404		2203	4300	6503	7520129	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.283T>C	17.37:g.7579404A>G	ENSP00000269305:p.Ser95Pro	Somatic		Capture	Illumina HiSeq	Phase_I	7520129	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	18.13	3.554526	0.65425	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99769	-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7;-6.7	4.62	4.62	0.57501	p53, DNA-binding domain (1);	0.175915	0.51477	D	0.000099	D	0.99456	0.9807	L	0.43554	1.36	0.42374	D	0.992466	B;D;B;B;P;B;B	0.89917	0.135;1.0;0.252;0.018;0.491;0.157;0.018	B;D;B;B;P;P;B	0.97110	0.041;1.0;0.326;0.045;0.577;0.458;0.024	D	0.98427	1.0580	10	0.27785	T	0.31	-25.4213	12.2903	0.54815	1.0:0.0:0.0:0.0	.	56;95;95;95;95;95;95	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	95	ENSP00000410739:S95P;ENSP00000352610:S95P;ENSP00000269305:S95P;ENSP00000398846:S95P;ENSP00000391127:S95P;ENSP00000391478:S95P;ENSP00000424104:S95P;ENSP00000426252:S95P	ENSP00000269305:S95P	S	-	1	0	TP53	7520129	0.997000	0.39634	0.958000	0.39756	0.823000	0.46562	2.946000	0.49050	2.070000	0.61991	0.459000	0.35465	TCT		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH8	4626	hgsc.bcm.edu	37	17	10302911	10302911	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:10302911G>A	ENST00000403437.2	-	28	3905	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1271					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGATCAGCCGCTGCTGCTCC	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0			17											142.0	130.0	134.0					17																	10302911		2203	4300	6503	10243636	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3811C>T	17.37:g.10302911G>A	ENSP00000384330:p.Arg1271Trp	Somatic		Capture	Illumina HiSeq	Phase_I	10243636	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341871	0.81911	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.84146	-1.81	5.38	3.29	0.37713	Myosin tail (1);	0.000000	0.38548	U	0.001656	D	0.94486	0.8225	H	0.96720	3.87	0.50171	D	0.99985	D	0.89917	1.0	D	0.79784	0.993	D	0.95274	0.8380	10	0.87932	D	0	.	13.1896	0.59702	0.0:0.0:0.5817:0.4183	.	1271	P13535	MYH8_HUMAN	W	1271	ENSP00000384330:R1271W	ENSP00000252173:R1271W	R	-	1	2	MYH8	10243636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.080000	0.50112	0.758000	0.33059	0.655000	0.94253	CGG		MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYOCD	93649	hgsc.bcm.edu	37	17	12639605	12639605	+	Silent	SNP	C	C	T	rs368720240		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:12639605C>T	ENST00000343344.4	+	6	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.D181D|AC005358.1_ENST00000609971.1_Silent_p.D85D			Q8IZQ8	MYCD_HUMAN	myocardin	181	HDAC5-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488																																																	0			17											89.0	97.0	95.0					17																	12639605		2203	4300	6503	12580330	SO:0001819	synonymous_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.543C>T	17.37:g.12639605C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12580330	Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
SUPT6H	6830	hgsc.bcm.edu	37	17	27000471	27000471	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:27000471G>A	ENST00000314616.6	+	2	335	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D18N|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	18	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D18N(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAATACAATGATGAAGGCGA	0.493																																																	1	Substitution - Missense(1)	ovary(1)	17											89.0	84.0	86.0					17																	27000471		2203	4300	6503	24024598	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.52G>A	17.37:g.27000471G>A	ENSP00000319104:p.Asp18Asn	Somatic		Capture	Illumina HiSeq	Phase_I	24024598	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076597	0.36662	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	4.76	0.60689	.	0.149195	0.64402	D	0.000018	T	0.27594	0.0678	N	0.08118	0	0.32563	N	0.530893	B	0.17667	0.023	B	0.14023	0.01	T	0.27020	-1.0086	9	0.40728	T	0.16	-14.4731	11.0059	0.47633	0.0:0.2844:0.5911:0.1245	.	18	Q7KZ85	SPT6H_HUMAN	N	18	.	ENSP00000319104:D18N	D	+	1	0	SUPT6H	24024598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	1.390000	0.46547	0.655000	0.94253	GAT		SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
NF1	4763	hgsc.bcm.edu	37	17	29665756	29665756	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:29665756A>G	ENST00000358273.4	+	46	7237	c.6854A>G	c.(6853-6855)tAc>tGc	p.Y2285C	NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Missense_Mutation_p.Y78C|NF1_ENST00000356175.3_Missense_Mutation_p.Y2264C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2285					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.Y2285fs*5(4)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTGACACTTACAACAGTCAA	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	16	Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)	soft_tissue(8)|central_nervous_system(4)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	17	GRCh37	CI962317	NF1	I							86.0	85.0	85.0					17																	29665756		2203	4296	6499	26689882	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6854A>G	17.37:g.29665756A>G	ENSP00000351015:p.Tyr2285Cys	Somatic		Capture	Illumina HiSeq	Phase_I	26689882	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012434	0.54468	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.65178	3.17;3.32;3.02;-0.14	5.91	5.91	0.95273	Armadillo-type fold (2);	0.056060	0.85682	D	0.000000	T	0.56543	0.1992	N	0.22421	0.69	0.80722	D	1	P;B	0.42123	0.771;0.001	P;B	0.45829	0.494;0.002	T	0.57347	-0.7827	10	0.39692	T	0.17	.	16.35	0.83199	1.0:0.0:0.0:0.0	.	2264;2285	P21359-2;P21359	.;NF1_HUMAN	C	2285;2264;1930;78	ENSP00000351015:Y2285C;ENSP00000348498:Y2264C;ENSP00000389907:Y1930C;ENSP00000396481:Y78C	ENSP00000348498:Y2264C	Y	+	2	0	NF1	26689882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.826000	0.75298	2.270000	0.75569	0.528000	0.53228	TAC		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
ASIC2	40	hgsc.bcm.edu	37	17	31352990	31352990	+	Silent	SNP	A	A	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:31352990A>T	ENST00000359872.6	-	5	1757	c.996T>A	c.(994-996)ccT>ccA	p.P332P	ASIC2_ENST00000225823.2_Silent_p.P383P|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	332					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GGGTACAAAAAGGGGCATCCC	0.557																																																	0			17											98.0	76.0	84.0					17																	31352990		2203	4300	6503	28377103	SO:0001819	synonymous_variant	40			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.996T>A	17.37:g.31352990A>T		Somatic		Capture	Illumina HiSeq	Phase_I	28377103	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																				ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
RDM1	201299	hgsc.bcm.edu	37	17	34251749	34251749	+	Missense_Mutation	SNP	T	T	A	rs148466061	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:34251749T>A	ENST00000293273.6	-	4	472	c.427A>T	c.(427-429)Agg>Tgg	p.R143W	RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Missense_Mutation_p.R120W|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.R143W|RDM1_ENST00000430160.2_Missense_Mutation_p.R120W|RDM1_ENST00000419453.2_Missense_Mutation_p.R120W|RDM1_ENST00000431884.2_Missense_Mutation_p.R143W	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	143					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCATTTTCCCTTTCTTCAAGG	0.423								Other identified genes with known or suspected DNA repair function																																									0			17											79.0	74.0	76.0					17																	34251749		2203	4300	6503	31275862	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.427A>T	17.37:g.34251749T>A	ENSP00000293273:p.Arg143Trp	Somatic		Capture	Illumina HiSeq	Phase_I	31275862	A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604389	0.28623	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	T;T;T;T;T	0.30981	1.51;1.51;1.52;1.51;1.51	3.29	3.29	0.37713	.	0.987576	0.08255	N	0.974026	T	0.43964	0.1271	L	0.51422	1.61	0.21697	N	0.999585	D;D;D;D;D;D	0.63880	0.993;0.992;0.992;0.993;0.993;0.992	P;P;P;P;P;P	0.62813	0.907;0.792;0.895;0.868;0.868;0.895	T	0.23297	-1.0192	10	0.62326	D	0.03	-0.7718	5.2319	0.15426	0.0:0.1338:0.0:0.8662	.	120;143;120;143;143;120	B4DZ74;Q8NG50-5;Q8NG50-2;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;RDM1_HUMAN;.	W	143;22;120;143;120;143	ENSP00000293273:R143W;ENSP00000378037:R120W;ENSP00000391290:R143W;ENSP00000413421:R120W;ENSP00000378036:R143W	ENSP00000293273:R143W	R	-	1	2	RDM1	31275862	0.398000	0.25279	0.716000	0.30569	0.283000	0.27025	1.012000	0.29924	1.503000	0.48686	0.477000	0.44152	AGG		RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654	
JUP	3728	hgsc.bcm.edu	37	17	39913781	39913781	+	Silent	SNP	G	G	A	rs201704572		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:39913781G>A	ENST00000393931.3	-	12	2050	c.1932C>T	c.(1930-1932)taC>taT	p.Y644Y	JUP_ENST00000310706.5_Silent_p.Y644Y|JUP_ENST00000393930.1_Silent_p.Y644Y|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	644	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGCAGCAGCGTAGGTGGCTG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17992	0.001		0.0	False		,,,				2504	0.0				Colon(16;42 520 6044 17852 28530)												0			17											78.0	79.0	78.0					17																	39913781		2203	4300	6503	37167307	SO:0001819	synonymous_variant	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1932C>T	17.37:g.39913781G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37167307	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																				JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
BRCA1	672	hgsc.bcm.edu	37	17	41197783	41197783	+	Missense_Mutation	SNP	C	C	A	rs80359883|rs273902775|rs273902776|rs397509290|rs397509291|rs80359873		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:41197783C>A	ENST00000357654.3	-	23	5622	c.5504G>T	c.(5503-5505)cGa>cTa	p.R1835L	BRCA1_ENST00000591849.1_Missense_Mutation_p.R68L|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1570L|BRCA1_ENST00000351666.3_Missense_Mutation_p.R652L|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1539L|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1596L|BRCA1_ENST00000352993.3_Missense_Mutation_p.R693L|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1788L|BRCA1_ENST00000591534.1_Missense_Mutation_p.R326L|BRCA1_ENST00000491747.2_Missense_Mutation_p.R731L|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1856L|BRCA1_ENST00000586385.1_Missense_Mutation_p.R145L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1835	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCCACTCTCGGGTCACCAC	0.542			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17											103.0	86.0	91.0					17																	41197783		2203	4300	6503	38451309	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5504G>T	17.37:g.41197783C>A	ENSP00000350283:p.Arg1835Leu	Somatic		Capture	Illumina HiSeq	Phase_I	38451309	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667139	0.88251	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.32	5.32	0.75619	BRCT (4);	0.158509	0.29624	N	0.011630	D	0.86756	0.6009	M	0.71581	2.175	0.38555	D	0.94955	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.983;0.954;0.989;0.989;0.986	D	0.88168	0.2862	10	0.62326	D	0.03	.	14.3724	0.66849	0.0:1.0:0.0:0.0	.	684;145;730;1857;1835;1835	B4DES0;C6YB45;E7ETR2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	L	1835;1856;1570;693;1596;652;1539;684;1857;1788;730	ENSP00000350283:R1835L;ENSP00000326002:R1570L;ENSP00000312236:R693L;ENSP00000246907:R1596L;ENSP00000338007:R652L;ENSP00000310938:R1539L;ENSP00000377294:R684L;ENSP00000418775:R1788L	ENSP00000310938:R1539L	R	-	2	0	BRCA1	38451309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.360000	0.59455	2.770000	0.95276	0.563000	0.77884	CGA		BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
GFAP	2670	hgsc.bcm.edu	37	17	42991127	42991127	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:42991127T>A	ENST00000253408.5	-	3	652	c.587A>T	c.(586-588)gAg>gTg	p.E196V	GFAP_ENST00000586793.1_Missense_Mutation_p.E196V|GFAP_ENST00000435360.2_Missense_Mutation_p.E196V|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	196	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GAACCGGATCTCCTCCTCCAG	0.582																																																	0			17											174.0	175.0	175.0					17																	42991127		2203	4300	6503	40346653	SO:0001583	missense	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.587A>T	17.37:g.42991127T>A	ENSP00000253408:p.Glu196Val	Somatic		Capture	Illumina HiSeq	Phase_I	40346653	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.153227|5.153227	0.94645|0.94645	.|.	.|.	ENSG00000131095|ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360|ENST00000376990	D;D|.	0.93307|.	-3.2;-3.2|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Filament (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88687|.	0.6504|.	H|H	0.98918|0.98918	4.37|4.37	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	D|.	0.92740|.	0.6207|.	10|.	0.87932|0.87932	D|D	0|0	.|.	13.5904|13.5904	0.61957|0.61957	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	196;196|.	E9PAX3;P14136|.	.;GFAP_HUMAN|.	V|X	196;171;196|176	ENSP00000253408:E196V;ENSP00000403962:E196V|.	ENSP00000253408:E196V|ENSP00000366189:R176X	E|R	-|-	2|1	0|2	GFAP|GFAP	40346653|40346653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	6.095000|6.095000	0.71439|0.71439	2.100000|2.100000	0.63781|0.63781	0.379000|0.379000	0.24179|0.24179	GAG|AGA		GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055	
PPM1E	22843	hgsc.bcm.edu	37	17	57047048	57047048	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:57047048G>A	ENST00000308249.2	+	4	1061	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	RP11-579O24.3_ENST00000582080.1_RNA	NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	36					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGGCCTTCCGGGTCACTGAT	0.522																																																	0			17											81.0	73.0	76.0					17																	57047048		2203	4300	6503	54401830	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.932G>A	17.37:g.57047048G>A	ENSP00000312411:p.Arg311Gln	Somatic		Capture	Illumina HiSeq	Phase_I	54401830	Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001867	0.74932	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.16743	2.32	5.49	5.49	0.81192	.	0.052050	0.85682	D	0.000000	T	0.14700	0.0355	N	0.17674	0.51	0.44289	D	0.997156	B;B	0.33549	0.417;0.395	B;B	0.34346	0.119;0.18	T	0.07214	-1.0784	10	0.33940	T	0.23	-6.2566	19.7268	0.96166	0.0:0.0:1.0:0.0	.	320;311	Q8WY54-3;Q8WY54-2	.;.	Q	311;162	ENSP00000312411:R311Q	ENSP00000312411:R311Q	R	+	2	0	PPM1E	54401830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.291000	0.65667	2.727000	0.93392	0.563000	0.77884	CGG		PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906	
TRIM37	4591	hgsc.bcm.edu	37	17	57126578	57126578	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:57126578A>G	ENST00000262294.7	-	15	1750	c.1491T>C	c.(1489-1491)gaT>gaC	p.D497D	TRIM37_ENST00000376149.3_Silent_p.D375D|TRIM37_ENST00000393065.2_Silent_p.D463D|TRIM37_ENST00000393066.3_Silent_p.D497D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	497					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATCTTCTTCATCCTCTTTGG	0.398									Mulibrey Nanism																																								0			17											125.0	110.0	115.0					17																	57126578		2203	4300	6503	54481360	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1491T>C	17.37:g.57126578A>G		Somatic		Capture	Illumina HiSeq	Phase_I	54481360	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
QRICH2	84074	hgsc.bcm.edu	37	17	74277973	74277973	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr17:74277973G>A	ENST00000262765.5	-	8	3916	c.3737C>T	c.(3736-3738)cCc>cTc	p.P1246L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1246								p.P1246L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTTCTTGGAGGGTCGGGAGAC	0.637																																																	1	Substitution - Missense(1)	central_nervous_system(1)	17											66.0	50.0	56.0					17																	74277973		2203	4300	6503	71789568	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3737C>T	17.37:g.74277973G>A	ENSP00000262765:p.Pro1246Leu	Somatic		Capture	Illumina HiSeq	Phase_I	71789568	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966413	0.74131	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.48836	2.86;0.8	5.55	5.55	0.83447	.	.	.	.	.	T	0.57519	0.2059	L	0.32530	0.975	0.44388	D	0.997297	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.973	T	0.58154	-0.7686	9	0.56958	D	0.05	-16.7834	15.0104	0.71545	0.0:0.0:1.0:0.0	.	1246;1246	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	1246;254;1246	ENSP00000262765:P1246L;ENSP00000394461:P254L	ENSP00000262765:P1246L	P	-	2	0	QRICH2	71789568	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.550000	0.53691	2.617000	0.88574	0.650000	0.86243	CCC		QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
MSLNL	401827	hgsc.bcm.edu	37	16	830194	830194	+	Intron	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:830194G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.P269P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGTCCCGGCGGGAGCAGGGG	0.687																																																	0			16											17.0	22.0	21.0					16																	830194		1895	4107	6002	770195	SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-32C>T	16.37:g.830194G>A		Somatic		Capture	Illumina HiSeq	Phase_I	770195		Silent	SNP	ENST00000442466.1	37																																																																																					MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
SRL	6345	hgsc.bcm.edu	37	16	4254547	4254547	+	Silent	SNP	G	G	A	rs186123843	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:4254547G>A	ENST00000399609.3	-	2	162	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SRL_ENST00000537996.1_Silent_p.S8S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	509	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S50S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGTAGTCATCGGATGGCTTGT	0.602													G|||	8	0.00159744	0.0	0.0	5008	,	,		17599	0.0069		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	16						G		0,3834		0,0,1917	127.0	126.0	126.0		150	-11.2	0.0	16		126	1,8239		0,1,4119	no	coding-synonymous	SRL	NM_001098814.1		0,1,6036	AA,AG,GG		0.0121,0.0,0.0083		50/474	4254547	1,12073	1917	4120	6037	4194548	SO:0001819	synonymous_variant	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.150C>T	16.37:g.4254547G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4194548		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																				SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152	
ABCC1	4363	hgsc.bcm.edu	37	16	16216007	16216007	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:16216007A>G	ENST00000399410.3	+	24	3741	c.3566A>G	c.(3565-3567)tAt>tGt	p.Y1189C	ABCC1_ENST00000351154.5_Missense_Mutation_p.Y1130C|ABCC1_ENST00000345148.5_Missense_Mutation_p.Y1189C|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y1074C|ABCC1_ENST00000399408.2_Missense_Mutation_p.Y1199C|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y1133C	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1189	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CAGAAGGCCTATTACCCCAGC	0.597																																																	0			16											52.0	59.0	56.0					16																	16216007		2152	4266	6418	16123508	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3566A>G	16.37:g.16216007A>G	ENSP00000382342:p.Tyr1189Cys	Somatic		Capture	Illumina HiSeq	Phase_I	16123508	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501561	0.44455	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.08	5.08	0.68730	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92821	0.7717	M	0.64404	1.975	0.46798	D	0.999202	B;D;D;D;D;D	0.89917	0.364;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D	0.97110	0.233;1.0;1.0;0.999;1.0;1.0	D	0.92046	0.5644	10	0.36615	T	0.2	-15.7422	14.0596	0.64790	1.0:0.0:0.0:0.0	.	1074;1189;1133;1130;1189;1199	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	C	1189;1199;1133;1130;1189;1074;873	ENSP00000382342:Y1189C;ENSP00000382340:Y1199C;ENSP00000263019:Y1133C;ENSP00000263017:Y1130C;ENSP00000263014:Y1189C;ENSP00000263016:Y1074C	ENSP00000263014:Y1189C	Y	+	2	0	ABCC1	16123508	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.276000	0.78559	1.919000	0.55581	0.459000	0.35465	TAT		ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
SRCAP	10847	hgsc.bcm.edu	37	16	30750596	30750596	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:30750596C>T	ENST00000262518.4	+	34	9620	c.9235C>T	c.(9235-9237)Cgg>Tgg	p.R3079W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R3017W|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2921W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3079					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATGCGAGGACGGAAGAGTGG	0.607																																																	0			16											68.0	64.0	65.0					16																	30750596		2197	4300	6497	30658097	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9235C>T	16.37:g.30750596C>T	ENSP00000262518:p.Arg3079Trp	Somatic		Capture	Illumina HiSeq	Phase_I	30658097	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353584	0.24512	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96856	-4.14;-4.15;-4.15	4.97	4.97	0.65823	.	0.000000	0.39083	N	0.001474	D	0.95220	0.8450	N	0.08118	0	0.32750	N	0.506465	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.96029	0.9015	10	0.87932	D	0	-6.3718	15.2431	0.73485	0.0:1.0:0.0:0.0	.	3017;3079	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	3079;3017;2921	ENSP00000262518:R3079W;ENSP00000378499:R3017W;ENSP00000343042:R2921W	ENSP00000262518:R3079W	R	+	1	2	SRCAP	30658097	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.698000	0.37794	2.584000	0.87258	0.462000	0.41574	CGG		SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
NUP93	9688	hgsc.bcm.edu	37	16	56868075	56868075	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:56868075C>T	ENST00000308159.5	+	14	1694	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	NUP93_ENST00000542526.1_Missense_Mutation_p.R402W|NUP93_ENST00000569842.1_Missense_Mutation_p.R525W|NUP93_ENST00000564887.1_Missense_Mutation_p.R402W	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	525					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTGCTTGCGGCGGCTGAACTT	0.572																																					Colon(33;610 796 1305 1705 38917)												0			16											89.0	94.0	92.0					16																	56868075		2198	4300	6498	55425576	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1573C>T	16.37:g.56868075C>T	ENSP00000310668:p.Arg525Trp	Somatic		Capture	Illumina HiSeq	Phase_I	55425576	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227820	0.95173	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.49432	0.8;0.78	5.91	4.94	0.65067	.	0.095169	0.85682	D	0.000000	T	0.69584	0.3127	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.74569	-0.3622	10	0.66056	D	0.02	-21.1985	16.4084	0.83698	0.1392:0.8608:0.0:0.0	.	525	Q8N1F7	NUP93_HUMAN	W	525;402	ENSP00000310668:R525W;ENSP00000440235:R402W	ENSP00000310668:R525W	R	+	1	2	NUP93	55425576	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.996000	0.57009	1.448000	0.47680	0.655000	0.94253	CGG		NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
HYDIN	54768	hgsc.bcm.edu	37	16	70955014	70955014	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:70955014C>A	ENST00000393567.2	-	46	7415	c.7265G>T	c.(7264-7266)aGg>aTg	p.R2422M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2422					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCCATGTTCCTTTTCTTCTT	0.488																																																	0			16											50.0	45.0	46.0					16																	70955014		1806	4066	5872	69512515	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7265G>T	16.37:g.70955014C>A	ENSP00000377197:p.Arg2422Met	Somatic		Capture	Illumina HiSeq	Phase_I	69512515	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725654	0.30593	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00912	5.55	5.89	-2.23	0.06930	.	0.526148	0.13186	U	0.407157	T	0.00875	0.0029	N	0.08118	0	0.23962	N	0.996332	P	0.51351	0.944	P	0.47981	0.563	T	0.54990	-0.8210	10	0.51188	T	0.08	.	12.1066	0.53816	0.0:0.4161:0.0:0.5839	.	2421	F8WD23	.	M	2422;2421	ENSP00000377197:R2422M	ENSP00000313052:R2421M	R	-	2	0	HYDIN	69512515	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-0.281000	0.08456	-0.307000	0.08804	-0.908000	0.02827	AGG		HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ATMIN	23300	hgsc.bcm.edu	37	16	81077779	81077779	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:81077779T>C	ENST00000299575.4	+	4	1700	c.1676T>C	c.(1675-1677)aTt>aCt	p.I559T	ATMIN_ENST00000564241.1_Missense_Mutation_p.I403T|ATMIN_ENST00000566488.1_Missense_Mutation_p.I403T|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	559					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATCAAGATATTGAGAAATCT	0.338																																																	0			16											43.0	43.0	43.0					16																	81077779		2202	4299	6501	79635280	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1676T>C	16.37:g.81077779T>C	ENSP00000299575:p.Ile559Thr	Somatic		Capture	Illumina HiSeq	Phase_I	79635280	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	T	6.056	0.378647	0.11466	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.30448	1.53	6.17	5.07	0.68467	.	0.967508	0.08595	N	0.922386	T	0.23766	0.0575	L	0.41236	1.265	0.09310	N	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.35773	-0.9775	10	0.17832	T	0.49	-2.3609	5.2669	0.15603	0.0:0.1055:0.1776:0.717	.	559	O43313	ATMIN_HUMAN	T	559;330	ENSP00000299575:I559T	ENSP00000299575:I559T	I	+	2	0	ATMIN	79635280	0.063000	0.20901	0.796000	0.32109	0.638000	0.38207	1.000000	0.29770	1.138000	0.42230	0.533000	0.62120	ATT		ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
DSG2	1829	hgsc.bcm.edu	37	18	29121187	29121187	+	Silent	SNP	C	C	T	rs201654341	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr18:29121187C>T	ENST00000261590.8	+	13	2120	c.1911C>T	c.(1909-1911)tgC>tgT	p.C637C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	637					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C637C(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTGCCATTGCGGAAAGGGCG	0.428													C|||	23	0.00459265	0.0	0.0	5008	,	,		21181	0.001		0.0	False		,,,				2504	0.0225																1	Substitution - coding silent(1)	ovary(1)	18											127.0	110.0	116.0					18																	29121187		1912	4131	6043	27375185	SO:0001819	synonymous_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1911C>T	18.37:g.29121187C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27375185	Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																				DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
SMAD4	4089	hgsc.bcm.edu	37	18	48586262	48586262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr18:48586262C>T	ENST00000342988.3	+	8	1469	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q311*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	311	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)|p.Q311*(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCTTGCATTCCAGCCTCCCAT	0.333																																																	41	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(2)	pancreas(27)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18											121.0	116.0	118.0					18																	48586262		2203	4300	6503	46840260	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.931C>T	18.37:g.48586262C>T	ENSP00000341551:p.Gln311*	Somatic		Capture	Illumina HiSeq	Phase_I	46840260	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.410002	0.99163	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.3351	0.90285	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000341551:Q311X	Q	+	1	0	SMAD4	46840260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.500000	0.81588	2.616000	0.88540	0.650000	0.86243	CAG		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
MBD2	8932	hgsc.bcm.edu	37	18	51729417	51729417	+	Intron	SNP	A	A	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr18:51729417A>T	ENST00000256429.3	-	2	931				MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000583046.1_Nonsense_Mutation_p.L253*	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2						ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		gcgtatgagcaagcagagtct	0.493																																																	0			18											142.0	143.0	143.0					18																	51729417		2167	4267	6434	49983415	SO:0001627	intron_variant	64174			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.702+1950T>A	18.37:g.51729417A>T		Somatic		Capture	Illumina HiSeq	Phase_I	49983415	O95242|Q9UIS8	Nonsense_Mutation	SNP	ENST00000256429.3	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458116	0.84317	.	.	ENSG00000134046	ENST00000398398	.	.	.	4.6	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1166	0.25421	0.9008:0.0:0.0992:0.0	.	.	.	.	X	253	.	ENSP00000381435:L253X	L	-	2	0	MBD2	49983415	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.612000	0.54142	1.086000	0.41228	0.533000	0.62120	TTG		MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927	
MALT1	10892	hgsc.bcm.edu	37	18	56390338	56390338	+	Silent	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr18:56390338C>A	ENST00000348428.3	+	10	1335	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L348L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	359	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.L348L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACCCCAAGCTCAAAGCTCCTT	0.403			T	BIRC3	MALT																																			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	1	Substitution - coding silent(1)	ovary(1)	18											133.0	126.0	128.0					18																	56390338		2203	4300	6503	54541318	SO:0001819	synonymous_variant	10892				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1077C>A	18.37:g.56390338C>A		Somatic		Capture	Illumina HiSeq	Phase_I	54541318	Q9NTB7|Q9ULX4	Silent	SNP	ENST00000348428.3	37	CCDS11967.1																																																																																				MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
NFATC1	4772	hgsc.bcm.edu	37	18	77193580	77193580	+	Splice_Site	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr18:77193580C>T	ENST00000427363.2	+	3	1228	c.1228C>T	c.(1228-1230)Ccg>Tcg	p.P410S	NFATC1_ENST00000318065.5_Splice_Site_p.P397S|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000586434.1_Splice_Site_p.P397S|NFATC1_ENST00000592223.1_Splice_Site_p.P397S|NFATC1_ENST00000329101.4_Splice_Site_p.P397S|NFATC1_ENST00000587635.1_Splice_Site_p.P410S|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000591814.1_Splice_Site_p.P410S|NFATC1_ENST00000253506.5_Splice_Site_p.P410S|NFATC1_ENST00000542384.1_Splice_Site_p.P410S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	410	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCCTTCCAGCCCGACCCTGCC	0.662																																					GBM(151;1210 2593 28719 45011)												0			18											80.0	84.0	82.0					18																	77193580		2203	4300	6503	75294568	SO:0001630	splice_region_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1227-1C>T	18.37:g.77193580C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75294568	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	2.465	-0.323288	0.05350	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.12361	3.13;2.69;2.93	4.6	4.6	0.57074	Rel homology (1);	0.111065	0.64402	D	0.000007	T	0.05364	0.0142	N	0.01800	-0.715	0.80722	D	1	P;P;P;B;B;B;P	0.48911	0.917;0.917;0.745;0.102;0.102;0.047;0.745	B;B;B;B;B;B;B	0.41440	0.357;0.357;0.298;0.05;0.05;0.04;0.298	T	0.32534	-0.9903	10	0.02654	T	1	-24.2885	17.4139	0.87494	0.0:1.0:0.0:0.0	.	397;397;410;410;410;397;410	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	410;410;410;397;397;374	ENSP00000253506:P410S;ENSP00000442435:P410S;ENSP00000327850:P397S	ENSP00000253506:P410S	P	+	1	0	NFATC1	75294568	1.000000	0.71417	0.988000	0.46212	0.110000	0.19582	4.341000	0.59335	2.097000	0.63578	0.561000	0.74099	CCG		NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	Missense_Mutation
SLC22A13	9390	hgsc.bcm.edu	37	3	38307447	38307447	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:38307447T>C	ENST00000311856.4	+	1	145	c.96T>C	c.(94-96)tcT>tcC	p.S32S	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	32					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		ACTTCCTGTCTCCCTTCTACT	0.498																																																	0			3											219.0	183.0	195.0					3																	38307447		2203	4300	6503	38282451	SO:0001819	synonymous_variant	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.96T>C	3.37:g.38307447T>C		Somatic		Capture	Illumina HiSeq	Phase_I	38282451	B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	CCDS2676.1																																																																																				SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
SCN5A	6331	hgsc.bcm.edu	37	3	38640450	38640450	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:38640450C>T	ENST00000333535.4	-	13	2131	c.1982G>A	c.(1981-1983)cGg>cAg	p.R661Q	SCN5A_ENST00000449557.2_Missense_Mutation_p.R661Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R661Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R661Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R661Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R661Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R661Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R661Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R661Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R661Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	661					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGAGGGCCCGCTGCCGTGC	0.642																																																	0			3											56.0	64.0	62.0					3																	38640450		2199	4298	6497	38615454	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1982G>A	3.37:g.38640450C>T	ENSP00000328968:p.Arg661Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38615454	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220265	0.95139	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	4.08	4.08	0.47627	Domain of unknown function DUF3451 (1);	0.066433	0.64402	D	0.000018	D	0.96374	0.8817	M	0.87381	2.88	0.49051	D	0.999742	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.995;0.99;0.996;1.0;0.998	D;D;P;P;P;D;P	0.85130	0.997;0.909;0.661;0.695;0.771;0.975;0.742	D	0.97317	0.9941	10	0.87932	D	0	.	16.4426	0.83906	0.0:1.0:0.0:0.0	.	661;661;661;661;661;661;661	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	Q	661	ENSP00000398962:R661Q;ENSP00000398266:R661Q;ENSP00000410257:R661Q;ENSP00000388797:R661Q;ENSP00000397915:R661Q;ENSP00000416634:R661Q;ENSP00000328968:R661Q;ENSP00000399524:R661Q;ENSP00000403355:R661Q;ENSP00000413996:R661Q	ENSP00000328968:R661Q	R	-	2	0	SCN5A	38615454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.604000	0.82830	2.117000	0.64856	0.561000	0.74099	CGG		SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
ANO10	55129	hgsc.bcm.edu	37	3	43618188	43618188	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:43618188T>C	ENST00000292246.3	-	6	1328	c.1158A>G	c.(1156-1158)tcA>tcG	p.S386S	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Silent_p.S386S|ANO10_ENST00000451430.2_Silent_p.S275S|ANO10_ENST00000396091.3_Silent_p.S320S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	386					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCTTACCCCATGAAGTTAAAA	0.423																																																	0			3											48.0	46.0	47.0					3																	43618188		2203	4300	6503	43593192	SO:0001819	synonymous_variant	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1158A>G	3.37:g.43618188T>C		Somatic		Capture	Illumina HiSeq	Phase_I	43593192	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	CCDS2710.2																																																																																				ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075	
SETD2	29072	hgsc.bcm.edu	37	3	47162349	47162349	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:47162349A>G	ENST00000409792.3	-	3	3819	c.3777T>C	c.(3775-3777)ggT>ggC	p.G1259G		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1259					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGAAGTCCCAACCTAAGTTTC	0.438			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			3											101.0	100.0	101.0					3																	47162349		2203	4300	6503	47137353	SO:0001819	synonymous_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3777T>C	3.37:g.47162349A>G		Somatic		Capture	Illumina HiSeq	Phase_I	47137353	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Silent	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
FRMD4B	23150	hgsc.bcm.edu	37	3	69267496	69267496	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:69267496C>A	ENST00000398540.3	-	10	849	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	FRMD4B_ENST00000542259.1_Missense_Mutation_p.G202C	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	256	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TAATGGACACCGTAAGTCGGT	0.313																																																	0			3											44.0	43.0	43.0					3																	69267496		1816	4076	5892	69350186	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.766G>T	3.37:g.69267496C>A	ENSP00000381549:p.Gly256Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69350186	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085231	0.76642	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880	D;D;D	0.96396	-4.0;-4.0;-4.0	5.87	5.87	0.94306	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99208	1.0875	10	0.87932	D	0	-15.953	18.9896	0.92786	0.0:1.0:0.0:0.0	.	100;256	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	C	256;202;147	ENSP00000381549:G256C;ENSP00000437658:G202C;ENSP00000418962:G147C	ENSP00000381549:G256C	G	-	1	0	FRMD4B	69350186	1.000000	0.71417	0.989000	0.46669	0.663000	0.39108	6.678000	0.74508	2.785000	0.95823	0.655000	0.94253	GGT		FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1		
CLDND1	56650	hgsc.bcm.edu	37	3	98235672	98235672	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:98235672A>G	ENST00000503004.1	-	5	1472	c.593T>C	c.(592-594)cTc>cCc	p.L198P	CLDND1_ENST00000394180.2_Missense_Mutation_p.L198P|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000511081.1_Missense_Mutation_p.L103P|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.L198P|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000437922.1_Missense_Mutation_p.L221P|CLDND1_ENST00000341181.6_Missense_Mutation_p.L198P|CLDND1_ENST00000394185.2_Missense_Mutation_p.L198P|CLDND1_ENST00000394181.2_Missense_Mutation_p.L198P|CLDND1_ENST00000510545.1_Missense_Mutation_p.L198P			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	198						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TTTCTGGTGGAGTAGTTCAAT	0.448																																																	0			3											132.0	114.0	120.0					3																	98235672		2203	4300	6503	99718362	SO:0001583	missense	56650			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.593T>C	3.37:g.98235672A>G	ENSP00000421226:p.Leu198Pro	Somatic		Capture	Illumina HiSeq	Phase_I	99718362	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218442	0.58560	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000513873;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.93	5.93	0.95920	.	0.196730	0.42964	D	0.000629	T	0.79907	0.4527	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.989;0.971;0.989	T	0.78807	-0.2059	10	0.35671	T	0.21	-10.8966	14.3286	0.66537	1.0:0.0:0.0:0.0	.	198;103;198	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	P	198;221;198;198;198;198;54;198;103;198;176;198;198;83;198;83;198	ENSP00000340247:L198P;ENSP00000388457:L221P;ENSP00000377734:L198P;ENSP00000421226:L198P;ENSP00000377739:L198P;ENSP00000377735:L198P;ENSP00000426164:L54P;ENSP00000423590:L198P;ENSP00000424669:L103P;ENSP00000426869:L198P;ENSP00000423732:L176P;ENSP00000425539:L198P;ENSP00000420913:L198P;ENSP00000427119:L83P;ENSP00000421413:L198P;ENSP00000424484:L83P;ENSP00000423151:L198P	ENSP00000340247:L198P	L	-	2	0	CLDND1	99718362	1.000000	0.71417	0.995000	0.50966	0.797000	0.45037	8.696000	0.91302	2.263000	0.75096	0.533000	0.62120	CTC		CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895	
TMPRSS7	344805	hgsc.bcm.edu	37	3	111795730	111795730	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:111795730G>T	ENST00000452346.2	+	16	1966	c.1963G>T	c.(1963-1965)Gat>Tat	p.D655Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D529Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	655	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D384H(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGGCTGTCAGATCCCACACC	0.448																																																	1	Substitution - Missense(1)	ovary(1)	3											172.0	166.0	168.0					3																	111795730		1982	4180	6162	113278420	SO:0001583	missense	344805			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1963G>T	3.37:g.111795730G>T	ENSP00000398236:p.Asp655Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	113278420	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	G	22.5	4.303394	0.81136	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89810	-2.57;-2.57	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93415	0.6772	10	0.87932	D	0	.	17.651	0.88164	0.0:0.0:1.0:0.0	.	655;529	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	655;643;629;529	ENSP00000398236:D655Y;ENSP00000411645:D529Y	ENSP00000411645:D529Y	D	+	1	0	TMPRSS7	113278420	1.000000	0.71417	0.987000	0.45799	0.837000	0.47467	6.964000	0.76061	2.906000	0.99361	0.655000	0.94253	GAT		TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
BOC	91653	hgsc.bcm.edu	37	3	112969433	112969433	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:112969433G>A	ENST00000495514.1	+	4	833	c.129G>A	c.(127-129)gcG>gcA	p.A43A	BOC_ENST00000273395.4_Silent_p.A43A|BOC_ENST00000484034.1_Silent_p.A43A|BOC_ENST00000485230.1_Silent_p.A43A|BOC_ENST00000355385.3_Silent_p.A43A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	43	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGCCTGCGTCCACCGTCC	0.552																																																	0			3											112.0	106.0	108.0					3																	112969433		2203	4300	6503	114452123	SO:0001819	synonymous_variant	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.129G>A	3.37:g.112969433G>A		Somatic		Capture	Illumina HiSeq	Phase_I	114452123	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
GRAMD1C	54762	hgsc.bcm.edu	37	3	113634568	113634568	+	Missense_Mutation	SNP	C	C	A	rs199895173		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:113634568C>A	ENST00000358160.4	+	10	1465	c.973C>A	c.(973-975)Ctt>Att	p.L325I	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.L120I|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.L158I|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.L54I|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	325						integral component of membrane (GO:0016021)		p.L325V(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGAGAAAGATCTTCATGGAAG	0.358																																																	1	Substitution - Missense(1)	ovary(1)	3											79.0	80.0	80.0					3																	113634568		2203	4296	6499	115117258	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.973C>A	3.37:g.113634568C>A	ENSP00000350881:p.Leu325Ile	Somatic		Capture	Illumina HiSeq	Phase_I	115117258	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280356	0.59758	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T	0.56444	1.03;0.54;0.46;0.48	5.98	5.98	0.97165	.	0.199004	0.44483	D	0.000452	T	0.47154	0.1430	L	0.49350	1.555	0.33973	D	0.647005	B;D	0.54397	0.314;0.966	B;B	0.38880	0.05;0.284	T	0.61237	-0.7103	10	0.34782	T	0.22	.	17.3601	0.87347	0.0:1.0:0.0:0.0	.	158;325	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	I	325;54;158;120;120	ENSP00000350881:L325I;ENSP00000399844:L54I;ENSP00000419132:L158I;ENSP00000408135:L120I	ENSP00000350881:L325I	L	+	1	0	GRAMD1C	115117258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.609000	0.61148	2.838000	0.97847	0.655000	0.94253	CTT		GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
VEPH1	79674	hgsc.bcm.edu	37	3	157099073	157099073	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:157099073G>A	ENST00000362010.2	-	7	1306	c.999C>T	c.(997-999)agC>agT	p.S333S	VEPH1_ENST00000543418.1_Silent_p.S333S|VEPH1_ENST00000392832.2_Silent_p.S333S|VEPH1_ENST00000392833.2_Silent_p.S333S|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	333						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTCGGTGATGCTTTTAATCT	0.517																																																	0			3											151.0	146.0	148.0					3																	157099073		2203	4300	6503	158581767	SO:0001819	synonymous_variant	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.999C>T	3.37:g.157099073G>A		Somatic		Capture	Illumina HiSeq	Phase_I	158581767	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	CCDS3179.1																																																																																				VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
PIK3CA	5290	hgsc.bcm.edu	37	3	178951999	178951999	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:178951999C>T	ENST00000263967.3	+	21	3211	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1018	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTTTTGATGACATTGCATACA	0.398		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											108.0	95.0	99.0					3																	178951999		1878	4117	5995	180434693	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3054C>T	3.37:g.178951999C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180434693	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TFRC	7037	hgsc.bcm.edu	37	3	195798995	195798995	+	Missense_Mutation	SNP	G	G	A	rs377519674		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:195798995G>A	ENST00000360110.4	-	5	632	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	TFRC_ENST00000420415.1_Missense_Mutation_p.R74C|TFRC_ENST00000392396.3_Missense_Mutation_p.R155C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	155					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAGCCTCACGAGGGACATAT	0.333			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0			3						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	70.0	70.0		463,463	4.8	1.0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TFRC	NM_001128148.1,NM_003234.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	155/761,155/761	195798995	1,13005	2203	4300	6503	197283392	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.463C>T	3.37:g.195798995G>A	ENSP00000353224:p.Arg155Cys	Somatic		Capture	Illumina HiSeq	Phase_I	197283392	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134924	0.77662	0.0	1.16E-4	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	4.79	0.61399	.	0.306462	0.40640	N	0.001058	T	0.79528	0.4461	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	P	0.61201	0.885	D	0.83999	0.0342	10	0.87932	D	0	-10.3439	14.6289	0.68643	0.0:0.1467:0.8533:0.0	.	155	P02786	TFR1_HUMAN	C	155;74;155	ENSP00000353224:R155C;ENSP00000390133:R74C;ENSP00000376197:R155C	ENSP00000353224:R155C	R	-	1	0	TFRC	197283392	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.079000	0.50104	1.497000	0.48584	0.591000	0.81541	CGT		TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		
CD163	9332	hgsc.bcm.edu	37	12	7636010	7636010	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:7636010C>G	ENST00000359156.4	-	12	3243	c.3041G>C	c.(3040-3042)gGc>gCc	p.G1014A	CD163_ENST00000396620.3_Missense_Mutation_p.G1047A|CD163_ENST00000541972.1_Missense_Mutation_p.G1002A|CD163_ENST00000432237.2_Missense_Mutation_p.G1014A|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1014	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1014D(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCACTATGGCCCCAGCGTCT	0.532																																																	1	Substitution - Missense(1)	ovary(1)	12											111.0	97.0	102.0					12																	7636010		2203	4300	6503	7527277	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3041G>C	12.37:g.7636010C>G	ENSP00000352071:p.Gly1014Ala	Somatic		Capture	Illumina HiSeq	Phase_I	7527277	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.80|19.80	3.895357|3.895357	0.72639|0.72639	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000537626|ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	.|T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.371003	.|0.25854	.|N	.|0.027878	T|T	0.67878|0.67878	0.2940|0.2940	M|M	0.89715|0.89715	3.055|3.055	0.31683|0.31683	N|N	0.64282|0.64282	.|D;D;D	.|0.60575	.|0.983;0.988;0.983	.|P;P;P	.|0.60286	.|0.872;0.814;0.832	T|T	0.74592|0.74592	-0.3614|-0.3614	5|10	.|0.36615	.|T	.|0.2	.|.	10.4935|10.4935	0.44764|0.44764	0.0:0.9112:0.0:0.0887|0.0:0.9112:0.0:0.0887	.|.	.|1047;1014;1014	.|C9JHR8;Q86VB7-3;Q86VB7	.|.;.;C163A_HUMAN	P|A	27|1014;54;1002;1047;1014	.|ENSP00000352071:G1014A;ENSP00000445438:G54A;ENSP00000444071:G1002A;ENSP00000379863:G1047A;ENSP00000403885:G1014A	.|ENSP00000352071:G1014A	A|G	-|-	1|2	0|0	CD163|CD163	7527277|7527277	0.039000|0.039000	0.19947|0.19947	0.997000|0.997000	0.53966|0.53966	0.871000|0.871000	0.50021|0.50021	0.833000|0.833000	0.27504|0.27504	2.707000|2.707000	0.92482|0.92482	0.555000|0.555000	0.69702|0.69702	GCC|GGC		CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
CD163	9332	hgsc.bcm.edu	37	12	7640085	7640085	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:7640085T>C	ENST00000359156.4	-	8	2122	c.1920A>G	c.(1918-1920)aaA>aaG	p.K640K	CD163_ENST00000396620.3_Silent_p.K673K|CD163_ENST00000541972.1_Silent_p.K628K|CD163_ENST00000432237.2_Silent_p.K640K|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	640	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACCATTTCCTTTTCCAAAAC	0.478																																																	0			12											154.0	140.0	145.0					12																	7640085		2203	4300	6503	7531352	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1920A>G	12.37:g.7640085T>C		Somatic		Capture	Illumina HiSeq	Phase_I	7531352	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1																																																																																				CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
FOXJ2	55810	hgsc.bcm.edu	37	12	8200496	8200496	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:8200496G>T	ENST00000162391.3	+	7	1981	c.836G>T	c.(835-837)gGg>gTg	p.G279V	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G279V	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	279					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCTCTCCTGGGGGACATCCCA	0.552																																																	0			12											50.0	58.0	55.0					12																	8200496		2203	4300	6503	8091763	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.836G>T	12.37:g.8200496G>T	ENSP00000162391:p.Gly279Val	Somatic		Capture	Illumina HiSeq	Phase_I	8091763	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685712	0.68157	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95137	-3.37;-3.62	5.42	5.42	0.78866	.	2.072210	0.02298	N	0.070893	D	0.96713	0.8927	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.87812	0.2632	10	0.19590	T	0.45	.	15.0867	0.72158	0.0:0.0:1.0:0.0	.	279;279	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	V	279	ENSP00000162391:G279V;ENSP00000403411:G279V	ENSP00000162391:G279V	G	+	2	0	FOXJ2	8091763	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.915000	0.69973	2.702000	0.92279	0.462000	0.41574	GGG		FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
KRAS	3845	hgsc.bcm.edu	37	12	25380243	25380243	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:25380243A>G	ENST00000256078.4	-	3	278	c.215T>C	c.(214-216)aTg>aCg	p.M72T	KRAS_ENST00000311936.3_Missense_Mutation_p.M72T|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	72					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCCAGTCCTCATGTACTGGTC	0.388		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	0			12											117.0	107.0	110.0					12																	25380243		2203	4300	6503	25271510	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.215T>C	12.37:g.25380243A>G	ENSP00000256078:p.Met72Thr	Somatic		Capture	Illumina HiSeq	Phase_I	25271510	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901136	0.72754	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	T;T	0.76839	-1.05;-1.05	5.77	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.979;0.993	D	0.87530	0.2452	10	0.87932	D	0	.	11.4078	0.49908	0.9291:0.0:0.0709:0.0	.	72;72	P01116-2;P01116	.;RASK_HUMAN	T	72	ENSP00000308495:M72T;ENSP00000256078:M72T	ENSP00000256078:M72T	M	-	2	0	KRAS	25271510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.271000	0.95698	1.107000	0.41642	0.533000	0.62120	ATG		KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ASUN	55726	hgsc.bcm.edu	37	12	27077412	27077412	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:27077412G>A	ENST00000261191.7	-	7	1216	c.680C>T	c.(679-681)tCc>tTc	p.S227F	ASUN_ENST00000539625.1_Missense_Mutation_p.S126F	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	227			S -> P (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TAAAACCGGGGACAACTACAG	0.318																																																	0			12											75.0	78.0	77.0					12																	27077412		2203	4300	6503	26968679	SO:0001583	missense	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.680C>T	12.37:g.27077412G>A	ENSP00000261191:p.Ser227Phe	Somatic		Capture	Illumina HiSeq	Phase_I	26968679	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854292	0.91355	.	.	ENSG00000064102	ENST00000261191;ENST00000539625	T;T	0.55413	0.52;0.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.75133	-0.3425	10	0.87932	D	0	-4.738	20.0759	0.97745	0.0:0.0:1.0:0.0	.	227	Q9NVM9	M89BB_HUMAN	F	227;126	ENSP00000261191:S227F;ENSP00000443724:S126F	ENSP00000261191:S227F	S	-	2	0	C12orf11	26968679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.795000	0.91872	2.814000	0.96858	0.655000	0.94253	TCC		ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
C12orf40	283461	hgsc.bcm.edu	37	12	40044119	40044119	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:40044119A>G	ENST00000324616.5	+	7	803	c.649A>G	c.(649-651)Act>Gct	p.T217A	C12orf40_ENST00000405531.3_Missense_Mutation_p.T217A|C12orf40_ENST00000398716.1_Missense_Mutation_p.T140A	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	217										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATCACATAAAACTACACGATT	0.313																																																	0			12											76.0	69.0	71.0					12																	40044119		1814	4071	5885	38330386	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.649A>G	12.37:g.40044119A>G	ENSP00000317671:p.Thr217Ala	Somatic		Capture	Illumina HiSeq	Phase_I	38330386	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	0.798	-0.756296	0.03019	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.46063	0.88;0.89	3.53	-2.51	0.06365	.	0.544584	0.15415	N	0.263534	T	0.23014	0.0556	L	0.27053	0.805	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.10636	-1.0621	10	0.51188	T	0.08	.	4.312	0.10976	0.4376:0.1867:0.3757:0.0	.	217	Q86WS4	CL040_HUMAN	A	217;140;217	ENSP00000383897:T217A;ENSP00000317671:T217A	ENSP00000317671:T217A	T	+	1	0	C12orf40	38330386	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.603000	0.05674	-0.451000	0.07097	0.528000	0.53228	ACT		C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43847820	43847820	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:43847820C>T	ENST00000389420.3	-	12	1649	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ADAMTS20_ENST00000553158.1_Silent_p.T550T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	550	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTGTTTCCGTTTCTTTGT	0.398																																																	0			12											119.0	97.0	104.0					12																	43847820		2203	4300	6503	42134087	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1650G>A	12.37:g.43847820C>T		Somatic		Capture	Illumina HiSeq	Phase_I	42134087	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
NAV3	89795	hgsc.bcm.edu	37	12	78582114	78582114	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:78582114T>C	ENST00000397909.2	+	32	6050	c.5877T>C	c.(5875-5877)cgT>cgC	p.R1959R	NAV3_ENST00000266692.7_Silent_p.R1760R|NAV3_ENST00000536525.2_Silent_p.R1937R|NAV3_ENST00000228327.6_Silent_p.R1937R|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1959						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAATAAGACGTCTCTTTAAGG	0.343										HNSCC(70;0.22)																																							0			12											111.0	107.0	108.0					12																	78582114		1851	4089	5940	77106245	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5877T>C	12.37:g.78582114T>C		Somatic		Capture	Illumina HiSeq	Phase_I	77106245	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	T	9.779	1.174675	0.21704	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.74	3.2	0.36748	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	-4.2121	8.311	0.32071	0.1208:0.0:0.2433:0.6359	.	.	.	.	P	832	.	.	S	+	1	0	NAV3	77106245	0.994000	0.37717	1.000000	0.80357	0.984000	0.73092	0.200000	0.17257	0.971000	0.38288	0.482000	0.46254	TCT		NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
UTP20	27340	hgsc.bcm.edu	37	12	101764871	101764871	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:101764871C>T	ENST00000261637.4	+	51	6897	c.6723C>T	c.(6721-6723)atC>atT	p.I2241I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2241					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCCAGAAATCGATGAGGTCA	0.448																																																	0			12											154.0	147.0	149.0					12																	101764871		2203	4300	6503	100289002	SO:0001819	synonymous_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6723C>T	12.37:g.101764871C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100289002	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
STAB2	55576	hgsc.bcm.edu	37	12	104155080	104155080	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:104155080G>T	ENST00000388887.2	+	66	7455	c.7251G>T	c.(7249-7251)acG>acT	p.T2417T	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.T2417T(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCCCTAGACGGAGACCAGGT	0.512																																																	1	Substitution - coding silent(1)	lung(1)	12											148.0	127.0	134.0					12																	104155080		2203	4300	6503	102679210	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7251G>T	12.37:g.104155080G>T		Somatic		Capture	Illumina HiSeq	Phase_I	102679210		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
NT5DC3	51559	hgsc.bcm.edu	37	12	104208740	104208740	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:104208740C>T	ENST00000392876.3	-	2	408	c.368G>A	c.(367-369)cGg>cAg	p.R123Q		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	123						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GAGAAGGTCCCGTGCAGCATT	0.458																																																	0			12											167.0	156.0	160.0					12																	104208740		2203	4300	6503	102732870	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.368G>A	12.37:g.104208740C>T	ENSP00000376615:p.Arg123Gln	Somatic		Capture	Illumina HiSeq	Phase_I	102732870	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794816	0.96952	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.87	5.87	0.94306	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.59542	-0.7435	10	0.49607	T	0.09	-34.9703	20.5827	0.99408	0.0:1.0:0.0:0.0	.	123	Q86UY8	NT5D3_HUMAN	Q	123	ENSP00000376615:R123Q	ENSP00000376615:R123Q	R	-	2	0	NT5DC3	102732870	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.419000	0.80179	2.941000	0.99782	0.655000	0.94253	CGG		NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
SART3	9733	hgsc.bcm.edu	37	12	108920086	108920086	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:108920086C>T	ENST00000228284.3	-	16	2394	c.2160G>A	c.(2158-2160)acG>acA	p.T720T	SART3_ENST00000431469.2_Silent_p.T684T	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	720	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCCTGAGCTTCGTGTCCGGCT	0.587									Porokeratosis																																								0			12											98.0	81.0	87.0					12																	108920086		2203	4300	6503	107444216	SO:0001819	synonymous_variant	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2160G>A	12.37:g.108920086C>T		Somatic		Capture	Illumina HiSeq	Phase_I	107444216	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.282901	0.01398	.	.	ENSG00000075856	ENST00000412617	.	.	.	5.81	-6.58	0.01836	.	.	.	.	.	T	0.45135	0.1327	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.27905	-1.0060	7	0.87932	D	0	-0.5482	20.5985	0.99450	0.0734:0.1292:0.747:0.0505	.	667	E7EMI4	.	K	667	.	ENSP00000400292:E667K	E	-	1	0	SART3	107444216	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.677000	0.05215	-1.220000	0.02594	-0.951000	0.02657	GAA		SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		
TJP1	7082	hgsc.bcm.edu	37	15	30012114	30012114	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:30012114T>A	ENST00000346128.6	-	20	3344	c.2870A>T	c.(2869-2871)gAg>gTg	p.E957V	TJP1_ENST00000356107.6_Missense_Mutation_p.E957V|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	957					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E957V(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGTGGGCTCCTCCAGTCTGAC	0.443																																					Melanoma(77;681 1843 6309 6570)												1	Substitution - Missense(1)	ovary(1)	15											139.0	133.0	135.0					15																	30012114		1908	4117	6025	27799406	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2870A>T	15.37:g.30012114T>A	ENSP00000281537:p.Glu957Val	Somatic		Capture	Illumina HiSeq	Phase_I	27799406	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156564	0.57259	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.08807	3.05	6.17	5.05	0.67936	.	0.051117	0.85682	D	0.000000	T	0.18173	0.0436	L	0.53249	1.67	0.80722	D	1	D;P	0.71674	0.998;0.919	P;B	0.56343	0.796;0.371	T	0.00512	-1.1696	10	0.44086	T	0.13	.	12.3964	0.55386	0.0:0.0652:0.0:0.9348	.	950;957	A9CQZ8;Q07157	.;ZO1_HUMAN	V	957	ENSP00000281537:E957V	ENSP00000281537:E957V	E	-	2	0	TJP1	27799406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.293000	0.65680	1.148000	0.42385	0.533000	0.62120	GAG		TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
HDC	3067	hgsc.bcm.edu	37	15	50534631	50534631	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:50534631C>G	ENST00000267845.3	-	12	2217	c.1815G>C	c.(1813-1815)aaG>aaC	p.K605N	HDC_ENST00000543581.1_Missense_Mutation_p.K572N|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGCCCCCATTCTTCACAGAGG	0.498																																					GBM(95;1627 1936 6910 9570)												0			15											134.0	152.0	146.0					15																	50534631		2196	4295	6491	48321923	SO:0001583	missense	51696				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1815G>C	15.37:g.50534631C>G	ENSP00000267845:p.Lys605Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48321923		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612497	0.28712	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.14391	2.8;2.51	5.48	5.48	0.80851	.	0.806022	0.11263	N	0.582329	T	0.12008	0.0292	L	0.29908	0.895	0.46149	D	0.998894	B;B	0.32245	0.361;0.181	B;B	0.26969	0.075;0.075	T	0.09164	-1.0687	10	0.87932	D	0	-17.1927	12.6613	0.56815	0.0:0.9245:0.0:0.0755	.	572;605	B7ZM01;P19113	.;DCHS_HUMAN	N	605;572	ENSP00000267845:K605N;ENSP00000440252:K572N	ENSP00000267845:K605N	K	-	3	2	HDC	48321923	1.000000	0.71417	0.982000	0.44146	0.087000	0.18053	3.352000	0.52239	2.570000	0.86706	0.563000	0.77884	AAG		HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
UNC13C	440279	hgsc.bcm.edu	37	15	54919114	54919114	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:54919114G>A	ENST00000260323.11	+	32	6448	c.6448G>A	c.(6448-6450)Gga>Aga	p.G2150R	UNC13C_ENST00000539562.2_Missense_Mutation_p.G71R|UNC13C_ENST00000545554.1_Missense_Mutation_p.G2150R|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2148R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2150	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G2150*(2)|p.G2150R(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCGAATTATCGGAATGACAGT	0.418																																																	3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|pancreas(1)	15											105.0	98.0	101.0					15																	54919114		1879	4102	5981	52706406	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6448G>A	15.37:g.54919114G>A	ENSP00000260323:p.Gly2150Arg	Somatic		Capture	Illumina HiSeq	Phase_I	52706406	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729280	0.89390	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	D;D;D;D	0.94931	-3.28;-3.28;-3.28;-3.56	5.85	5.85	0.93711	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.051321	0.85682	D	0.000000	D	0.97958	0.9328	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98457	1.0594	10	0.87932	D	0	.	19.1612	0.93533	0.0:0.0:1.0:0.0	.	2150	Q8NB66	UN13C_HUMAN	R	2150;2150;2148;71	ENSP00000260323:G2150R;ENSP00000438156:G2150R;ENSP00000442569:G2148R;ENSP00000443886:G71R	ENSP00000260323:G2150R	G	+	1	0	UNC13C	52706406	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.751000	0.98889	2.768000	0.95171	0.655000	0.94253	GGA		UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
MAP2K1	5604	hgsc.bcm.edu	37	15	66727441	66727441	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:66727441T>G	ENST00000307102.5	+	2	688	c.157T>G	c.(157-159)Ttt>Gtt	p.F53V		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.F53L(2)|p.F53S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCTTGAGGCCTTTCTTACCCA	0.547																																																	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	15											155.0	146.0	149.0					15																	66727441		2201	4299	6500	64514495	SO:0001583	missense	5604			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.157T>G	15.37:g.66727441T>G	ENSP00000302486:p.Phe53Val	Somatic		Capture	Illumina HiSeq	Phase_I	64514495		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813069	0.90707	.	.	ENSG00000169032	ENST00000307102	D	0.92495	-3.05	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	M	0.76170	2.325	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66847	0.928;0.947	D	0.94530	0.7735	10	0.39692	T	0.17	-14.6287	14.0473	0.64712	0.0:0.0:0.0:1.0	.	31;53	B4DFY5;Q02750	.;MP2K1_HUMAN	V	53	ENSP00000302486:F53V	ENSP00000302486:F53V	F	+	1	0	MAP2K1	64514495	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.924000	0.87555	1.911000	0.55334	0.383000	0.25322	TTT		MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4		
CHRNA3	1136	hgsc.bcm.edu	37	15	78893717	78893717	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:78893717A>G	ENST00000326828.5	-	5	1651	c.1267T>C	c.(1267-1269)Tct>Cct	p.S423P	CHRNA3_ENST00000348639.3_Missense_Mutation_p.S423P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	423					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	TCAGAACTAGAGCTTCTCGTG	0.473																																																	0			15											159.0	144.0	149.0					15																	78893717		2196	4293	6489	76680772	SO:0001583	missense	1136				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1267T>C	15.37:g.78893717A>G	ENSP00000315602:p.Ser423Pro	Somatic		Capture	Illumina HiSeq	Phase_I	76680772	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109889	0.37242	.	.	ENSG00000080644	ENST00000348639;ENST00000326828	D;D	0.86030	-2.06;-2.06	5.79	3.37	0.38596	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.402626	0.26307	N	0.025124	D	0.84529	0.5492	L	0.43598	1.365	0.53005	D	0.999969	P;P	0.51147	0.916;0.942	P;P	0.55871	0.756;0.786	T	0.78984	-0.1988	10	0.26408	T	0.33	.	8.9876	0.36003	0.7436:0.1313:0.0:0.1251	.	423;423	P32297;P32297-3	ACHA3_HUMAN;.	P	423	ENSP00000267951:S423P;ENSP00000315602:S423P	ENSP00000315602:S423P	S	-	1	0	CHRNA3	76680772	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.781000	0.47750	0.396000	0.25283	-0.435000	0.05868	TCT		CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3		
KIAA1024	23251	hgsc.bcm.edu	37	15	79750551	79750551	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:79750551G>A	ENST00000305428.3	+	2	2137	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	688						integral component of membrane (GO:0016021)		p.G688R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGATGCTAGCGGGAGCAACAG	0.557																																																	1	Substitution - Missense(1)	lung(1)	15											157.0	155.0	156.0					15																	79750551		2196	4293	6489	77537606	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2062G>A	15.37:g.79750551G>A	ENSP00000307461:p.Gly688Arg	Somatic		Capture	Illumina HiSeq	Phase_I	77537606	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861749	0.32884	.	.	ENSG00000169330	ENST00000305428	T	0.37915	1.17	5.59	4.67	0.58626	.	0.178123	0.52532	D	0.000067	T	0.48804	0.1520	M	0.65975	2.015	0.24941	N	0.991859	D	0.71674	0.998	P	0.55999	0.789	T	0.44112	-0.9349	9	.	.	.	.	10.4174	0.44329	0.1495:0.0:0.8505:0.0	.	688	Q9UPX6	K1024_HUMAN	R	688	ENSP00000307461:G688R	.	G	+	1	0	KIAA1024	77537606	1.000000	0.71417	0.252000	0.24328	0.345000	0.29048	5.331000	0.65905	1.356000	0.45884	0.591000	0.81541	GGG		KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
IGF1R	3480	hgsc.bcm.edu	37	15	99251010	99251010	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr15:99251010T>C	ENST00000268035.6	+	2	925	c.314T>C	c.(313-315)gTc>gCc	p.V105A	IGF1R_ENST00000558762.1_Missense_Mutation_p.V105A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	105			V -> L (in a renal chromophobe sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AACCTCACGGTCATCCGCGGC	0.547																																																	0			15											78.0	63.0	68.0					15																	99251010		2197	4297	6494	97068533	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.314T>C	15.37:g.99251010T>C	ENSP00000268035:p.Val105Ala	Somatic		Capture	Illumina HiSeq	Phase_I	97068533	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360039	0.82353	.	.	ENSG00000140443	ENST00000268035	T	0.80994	-1.44	5.36	5.36	0.76844	EGF receptor, L domain (1);	0.000000	0.48767	D	0.000172	D	0.92561	0.7637	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.966;0.999	D	0.94605	0.7799	10	0.87932	D	0	.	14.824	0.70097	0.0:0.0:0.0:1.0	.	105;105	C9J5X1;P08069	.;IGF1R_HUMAN	A	105	ENSP00000268035:V105A	ENSP00000268035:V105A	V	+	2	0	IGF1R	97068533	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.880000	0.87243	2.148000	0.66965	0.460000	0.39030	GTC		IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
MID1	4281	hgsc.bcm.edu	37	X	10427780	10427780	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:10427780G>A	ENST00000317552.4	-	8	1753	c.1353C>T	c.(1351-1353)caC>caT	p.H451H	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Silent_p.H451H|MID1_ENST00000380779.1_Silent_p.H451H|MID1_ENST00000453318.2_Silent_p.H451H|MID1_ENST00000380785.1_Silent_p.H451H|MID1_ENST00000380780.1_Silent_p.H451H|MID1_ENST00000380782.2_Silent_p.H451H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	451	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTGCAGACCGTGCACCGTGT	0.517																																																	0			X											262.0	182.0	209.0					X																	10427780		2203	4300	6503	10387780	SO:0001819	synonymous_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1353C>T	X.37:g.10427780G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10387780	B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	CCDS14138.1																																																																																				MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
ACE2	59272	hgsc.bcm.edu	37	X	15593883	15593883	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:15593883G>A	ENST00000252519.3	-	10	1450	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	ACE2_ENST00000427411.1_Silent_p.L450L			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	450					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GTAAATGGCAGAGTCCCAACA	0.388																																																	0			X											165.0	138.0	147.0					X																	15593883		2203	4300	6503	15503804	SO:0001819	synonymous_variant	59272			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1348C>T	X.37:g.15593883G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15503804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Silent	SNP	ENST00000252519.3	37	CCDS14169.1																																																																																				ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
ZRSR2	8233	hgsc.bcm.edu	37	X	15821892	15821892	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:15821892G>A	ENST00000307771.7	+	4	309	c.285G>A	c.(283-285)gcG>gcA	p.A95A	ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	95					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGGAAGAGGCGGCTAAAAAAC	0.388			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)			Rec	yes		X	Xp22.1	8233	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""		L	0			X											85.0	65.0	72.0					X																	15821892		2202	4298	6500	15731813	SO:0001819	synonymous_variant	8233			BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.285G>A	X.37:g.15821892G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15731813	Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																				ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	
CXorf30	645090	hgsc.bcm.edu	37	X	36385109	36385109	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:36385109G>A	ENST00000378657.4	+	16	2038	c.1390G>A	c.(1390-1392)Gta>Ata	p.V464I	RP11-87M18.2_ENST00000455438.2_RNA	NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	464										breast(1)|lung(2)|stomach(1)	4						AATAGAGTGCGTAACAGAAGG	0.348													G|||	2	0.000529801	0.0	0.0	3775	,	,		12905	0.001		0.0	False		,,,				2504	0.001																0			X											275.0	203.0	225.0					X																	36385109		692	1590	2282	36295030	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1390G>A	X.37:g.36385109G>A	ENSP00000367926:p.Val464Ile	Somatic		Capture	Illumina HiSeq	Phase_I	36295030		Missense_Mutation	SNP	ENST00000378657.4	37	CCDS55396.1	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169668	0.09339	.	.	ENSG00000205081	ENST00000378653;ENST00000378657;ENST00000446478	T;T	0.21734	1.99;1.99	5.33	-10.7	0.00240	.	1.316680	0.04749	N	0.424211	T	0.04543	0.0124	N	0.01188	-0.97	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.23583	-1.0184	10	0.15066	T	0.55	-2.8283	4.2254	0.10579	0.1616:0.4324:0.2987:0.1074	.	464	A6PW82	CX030_HUMAN	I	749;464;69	ENSP00000367922:V749I;ENSP00000367926:V464I	ENSP00000367922:V749I	V	+	1	0	CXorf30	36295030	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.050000	0.03510	-1.932000	0.01053	-0.378000	0.06908	GTA		CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NP_001092313	
FAM47C	442444	hgsc.bcm.edu	37	X	37028523	37028523	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:37028523G>A	ENST00000358047.3	+	1	2092	c.2040G>A	c.(2038-2040)ccG>ccA	p.P680P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	680										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						ATCTCTGCCCGGAGCCTCCAG	0.642																																																	0			X											24.0	23.0	24.0					X																	37028523		2162	4235	6397	36938444	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.2040G>A	X.37:g.37028523G>A		Somatic		Capture	Illumina HiSeq	Phase_I	36938444	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
KCND1	3750	hgsc.bcm.edu	37	X	48819870	48819870	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:48819870G>T	ENST00000218176.3	-	6	3213	c.1916C>A	c.(1915-1917)cCc>cAc	p.P639H	KCND1_ENST00000376477.1_Missense_Mutation_p.P262H	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	639					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GACAGTCTCGGGGAAGAGGCA	0.587																																																	0			X											23.0	21.0	22.0					X																	48819870		2203	4300	6503	48704814	SO:0001583	missense	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1916C>A	X.37:g.48819870G>T	ENSP00000218176:p.Pro639His	Somatic		Capture	Illumina HiSeq	Phase_I	48704814	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	g	0.061	-1.224109	0.01530	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95690	-3.25;-3.78	5.32	4.37	0.52481	.	0.137128	0.46442	D	0.000297	T	0.81664	0.4870	N	0.00538	-1.39	0.32481	N	0.541485	B	0.02656	0.0	B	0.01281	0.0	T	0.79838	-0.1634	10	0.23891	T	0.37	.	9.4069	0.38466	0.0:0.0:0.5513:0.4487	.	639	Q9NSA2	KCND1_HUMAN	H	262;639	ENSP00000365660:P262H;ENSP00000218176:P639H	ENSP00000218176:P639H	P	-	2	0	KCND1	48704814	0.999000	0.42202	0.692000	0.30179	0.061000	0.15899	3.038000	0.49783	2.220000	0.72140	0.431000	0.28591	CCC		KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
CACNA1F	778	hgsc.bcm.edu	37	X	49074243	49074243	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:49074243G>A	ENST00000376265.2	-	26	3154	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	CACNA1F_ENST00000376251.1_Silent_p.D966D|CACNA1F_ENST00000323022.5_Silent_p.D1020D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1031					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTTGGCCTCGTCCGTGCAGG	0.567																																																	0			X											177.0	142.0	154.0					X																	49074243		2203	4300	6503	48961187	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3093C>T	X.37:g.49074243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48961187	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																				CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
ARHGEF9	23229	hgsc.bcm.edu	37	X	62898439	62898439	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:62898439C>G	ENST00000253401.6	-	5	1375	c.575G>C	c.(574-576)tGg>tCg	p.W192S	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.W171S|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.W90S|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.W139S|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.W190S|ARHGEF9_ENST00000433323.2_5'Flank	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	192	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGAGTATATCCAGAATCCATC	0.438																																																	0			X											47.0	40.0	43.0					X																	62898439		2203	4300	6503	62815164	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.575G>C	X.37:g.62898439C>G	ENSP00000253401:p.Trp192Ser	Somatic		Capture	Illumina HiSeq	Phase_I	62815164	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724275	0.15439	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	N	0.00155	-1.965	0.80722	D	1	B;B;B;B	0.20988	0.05;0.018;0.05;0.05	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.38023	-0.9680	10	0.08837	T	0.75	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	139;190;192;192	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	S	192;190;139;90;171	ENSP00000253401:W192S;ENSP00000364012:W190S;ENSP00000399994:W139S;ENSP00000364004:W90S;ENSP00000364006:W171S	ENSP00000253401:W192S	W	-	2	0	ARHGEF9	62815164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.425000	0.59875	2.087000	0.62958	0.600000	0.82982	TGG		ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
EDA	1896	hgsc.bcm.edu	37	X	69247710	69247710	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:69247710A>G	ENST00000374552.4	+	4	772	c.530A>G	c.(529-531)aAg>aGg	p.K177R	EDA_ENST00000374553.2_Missense_Mutation_p.K177R|EDA_ENST00000524573.1_Missense_Mutation_p.K177R	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	177					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TTTTCAGGAAAGAAAGCAGGA	0.547																																																	0			X											11.0	10.0	11.0					X																	69247710		2107	4105	6212	69164435	SO:0001583	missense	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.530A>G	X.37:g.69247710A>G	ENSP00000363680:p.Lys177Arg	Somatic		Capture	Illumina HiSeq	Phase_I	69164435	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	A	7.485	0.649523	0.14516	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573;ENST00000503592	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-2.88	4.55	4.55	0.56014	.	0.069640	0.56097	D	0.000036	D	0.90051	0.6893	L	0.35487	1.065	0.80722	D	1	P;P;P	0.42078	0.728;0.77;0.728	B;B;B	0.43508	0.297;0.422;0.297	D	0.90435	0.4427	10	0.59425	D	0.04	-9.3543	12.3423	0.55101	1.0:0.0:0.0:0.0	.	177;177;177	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	R	177;177;177;45	ENSP00000363680:K177R;ENSP00000363681:K177R;ENSP00000432585:K177R;ENSP00000423037:K45R	ENSP00000363680:K177R	K	+	2	0	EDA	69164435	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.858000	0.86971	1.703000	0.51240	0.483000	0.47432	AAG		EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
CYLC1	1538	hgsc.bcm.edu	37	X	83129020	83129020	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:83129020A>T	ENST00000329312.4	+	4	1341	c.1304A>T	c.(1303-1305)aAg>aTg	p.K435M		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	435					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATAATAAAAAGTCTGTCAAG	0.343																																																	0			X											20.0	17.0	18.0					X																	83129020		2195	4290	6485	83015676	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1304A>T	X.37:g.83129020A>T	ENSP00000331556:p.Lys435Met	Somatic		Capture	Illumina HiSeq	Phase_I	83015676	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	11.99	1.802190	0.31869	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.26660	1.72	3.88	3.88	0.44766	.	.	.	.	.	T	0.47637	0.1456	M	0.73962	2.25	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.26815	-1.0092	9	0.87932	D	0	-1.13	8.1399	0.31078	1.0:0.0:0.0:0.0	.	435;435	P35663;F5H4V5	CYLC1_HUMAN;.	M	435	ENSP00000331556:K435M	ENSP00000331556:K435M	K	+	2	0	CYLC1	83015676	0.235000	0.23794	0.015000	0.15790	0.251000	0.25915	2.502000	0.45398	1.739000	0.51704	0.486000	0.48141	AAG		CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
KLHL4	56062	hgsc.bcm.edu	37	X	86772920	86772920	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:86772920G>C	ENST00000373119.4	+	1	169	c.24G>C	c.(22-24)gaG>gaC	p.E8D	KLHL4_ENST00000373114.4_Missense_Mutation_p.E8D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	8						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAAGAAAGAGTTTGATGTGA	0.458																																																	0			X											115.0	106.0	109.0					X																	86772920		2203	4300	6503	86659576	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.24G>C	X.37:g.86772920G>C	ENSP00000362211:p.Glu8Asp	Somatic		Capture	Illumina HiSeq	Phase_I	86659576	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324565	0.10900	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73789	-0.78;-0.75	4.95	1.26	0.21427	.	0.000000	0.64402	D	0.000004	T	0.58807	0.2148	L	0.38953	1.18	0.44155	D	0.996959	B;B	0.25667	0.131;0.086	B;B	0.29942	0.079;0.109	T	0.38779	-0.9645	10	0.09084	T	0.74	.	8.5209	0.33275	0.3307:0.0:0.6693:0.0	.	8;8	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	D	8	ENSP00000362211:E8D;ENSP00000362206:E8D	ENSP00000362206:E8D	E	+	3	2	KLHL4	86659576	1.000000	0.71417	0.997000	0.53966	0.590000	0.36582	2.003000	0.40844	-0.068000	0.12953	-0.322000	0.08575	GAG		KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH19	57526	hgsc.bcm.edu	37	X	99661861	99661861	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:99661861G>A	ENST00000373034.4	-	1	3410	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	PCDH19_ENST00000255531.7_Missense_Mutation_p.R579C|PCDH19_ENST00000420881.2_Missense_Mutation_p.R579C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCAGAGTTGCGGGGTATGTAG	0.582																																																	0			X											85.0	83.0	84.0					X																	99661861		2097	4182	6279	99548517	SO:0001583	missense	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1735C>T	X.37:g.99661861G>A	ENSP00000362125:p.Arg579Cys	Somatic		Capture	Illumina HiSeq	Phase_I	99548517	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263472	0.39995	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51574	0.7;0.7;0.7	5.64	5.64	0.86602	Cadherin (3);Cadherin-like (1);	0.057280	0.64402	D	0.000002	T	0.74412	0.3713	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.97;0.987;0.992	T	0.80630	-0.1297	10	0.87932	D	0	.	14.112	0.65126	0.0:0.0:0.773:0.227	.	579;579;579	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	C	579	ENSP00000400327:R579C;ENSP00000362125:R579C;ENSP00000255531:R579C	ENSP00000255531:R579C	R	-	1	0	PCDH19	99548517	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.847000	0.48270	2.362000	0.80069	0.513000	0.50165	CGC		PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
ZMAT1	84460	hgsc.bcm.edu	37	X	101138613	101138613	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:101138613G>T	ENST00000372782.3	-	7	1833	c.1786C>A	c.(1786-1788)Cga>Aga	p.R596R	ZMAT1_ENST00000458570.1_Silent_p.R425R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.R596R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTTTTTCGATGCTTAAGC	0.378																																																	0			X											197.0	167.0	177.0					X																	101138613		2203	4299	6502	101025269	SO:0001819	synonymous_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1786C>A	X.37:g.101138613G>T		Somatic		Capture	Illumina HiSeq	Phase_I	101025269	Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	CCDS35348.1																																																																																				ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		
IL13RA2	3598	hgsc.bcm.edu	37	X	114245297	114245297	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:114245297C>A	ENST00000371936.1	-	7	865	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	IL13RA2_ENST00000243213.1_Missense_Mutation_p.D206Y			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	206	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TCTTTATAGTCTGATGCCTCC	0.358																																																	0			X											104.0	97.0	100.0					X																	114245297		2203	4300	6503	114151553	SO:0001583	missense	3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.616G>T	X.37:g.114245297C>A	ENSP00000361004:p.Asp206Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	114151553	A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413124	0.62511	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.510248	0.22438	N	0.060050	D	0.85835	0.5789	L	0.54323	1.7	0.43879	D	0.99649	D;D	0.71674	0.998;0.996	D;D	0.69307	0.963;0.93	T	0.81371	-0.0963	10	0.06891	T	0.86	-8.1165	12.6771	0.56901	0.0:1.0:0.0:0.0	.	206;206	D0EFR8;Q14627	.;I13R2_HUMAN	Y	206	ENSP00000361004:D206Y;ENSP00000243213:D206Y	ENSP00000243213:D206Y	D	-	1	0	IL13RA2	114151553	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.551000	0.60740	2.388000	0.81334	0.544000	0.68410	GAC		IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
TENM1	10178	hgsc.bcm.edu	37	X	123514664	123514664	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:123514664G>A	ENST00000371130.3	-	31	7963	c.7900C>T	c.(7900-7902)Cgg>Tgg	p.R2634W	TENM1_ENST00000422452.2_Missense_Mutation_p.R2641W|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2634					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCCATACCGGATGTTGAAG	0.517																																																	0			X											101.0	87.0	92.0					X																	123514664		2203	4300	6503	123342345	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7900C>T	X.37:g.123514664G>A	ENSP00000360171:p.Arg2634Trp	Somatic		Capture	Illumina HiSeq	Phase_I	123342345	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759462	0.69763	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87491	-2.26;-2.23	5.82	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.976;0.994	D	0.93568	0.6901	10	0.87932	D	0	.	15.3958	0.74790	0.0:0.0:0.8606:0.1394	.	2640;2641;2634	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	2634;2641	ENSP00000360171:R2634W;ENSP00000403954:R2641W	ENSP00000360171:R2634W	R	-	1	2	ODZ1	123342345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.586000	0.74067	2.455000	0.83008	0.594000	0.82650	CGG		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	hgsc.bcm.edu	37	X	124029955	124029955	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:124029955T>C	ENST00000371130.3	-	2	416	c.353A>G	c.(352-354)gAc>gGc	p.D118G	TENM1_ENST00000422452.2_Missense_Mutation_p.D118G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	118	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGTGCATGGTCAGGTGAGGC	0.502																																																	0			X											277.0	225.0	242.0					X																	124029955		2203	4300	6503	123857636	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.353A>G	X.37:g.124029955T>C	ENSP00000360171:p.Asp118Gly	Somatic		Capture	Illumina HiSeq	Phase_I	123857636	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665041	0.47677	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30714	1.52;1.52	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.240686	0.33309	N	0.005054	T	0.25082	0.0609	N	0.22421	0.69	0.44789	D	0.997792	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.22152	0.038;0.038;0.038	T	0.04178	-1.0971	10	0.72032	D	0.01	.	14.9145	0.70785	0.0:0.0:0.0:1.0	.	118;118;118	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	118	ENSP00000360171:D118G;ENSP00000403954:D118G	ENSP00000360171:D118G	D	-	2	0	ODZ1	123857636	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.853000	0.55941	1.972000	0.57404	0.486000	0.48141	GAC		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
DCAF12L2	340578	hgsc.bcm.edu	37	X	125299499	125299499	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:125299499G>A	ENST00000360028.2	-	1	435	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R137W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	137										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCTTGTCCCGCATGAGGGGG	0.642																																																	0			X											82.0	79.0	80.0					X																	125299499		2203	4300	6503	125127180	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.409C>T	X.37:g.125299499G>A	ENSP00000353128:p.Arg137Trp	Somatic		Capture	Illumina HiSeq	Phase_I	125127180	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.501	1.103254	0.20632	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35789	1.29;1.29	3.75	-1.73	0.08081	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.36799	0.0980	M	0.64997	1.995	0.20403	N	0.999908	D	0.67145	0.996	P	0.50791	0.65	T	0.26360	-1.0105	9	0.87932	D	0	.	1.8557	0.03178	0.1076:0.3139:0.2557:0.3228	.	137	Q5VW00	DC122_HUMAN	W	137	ENSP00000441489:R137W;ENSP00000353128:R137W	ENSP00000353128:R137W	R	-	1	2	DCAF12L2	125127180	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	1.557000	0.36299	-0.547000	0.06207	-0.337000	0.08149	CGG		DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrUnknown:0G>T								None (None upstream) : None (None downstream)																								0																																																	0			X																																								148576686	SO:0001628	intergenic_variant	4110																															Unknown.37:g.0G>T		Somatic		Capture	Illumina HiSeq	Phase_I	148576686		Missense_Mutation	SNP		37																																																																																				0								
MAGEA1	4100	hgsc.bcm.edu	37	X	152482177	152482177	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:152482177T>C	ENST00000356661.5	-	3	1052	c.834A>G	c.(832-834)aaA>aaG	p.K278K		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	278	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.		K -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCAAGGACTTTCACATAGC	0.537																																																	0			X											137.0	130.0	133.0					X																	152482177		2203	4300	6503	152135371	SO:0001819	synonymous_variant	4100				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.834A>G	X.37:g.152482177T>C		Somatic		Capture	Illumina HiSeq	Phase_I	152135371	B2RC81|O00346	Silent	SNP	ENST00000356661.5	37	CCDS14720.1																																																																																				MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988	
NOP14	8602	hgsc.bcm.edu	37	4	2955244	2955244	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:2955244T>A	ENST00000314262.6	-	5	789	c.741A>T	c.(739-741)aaA>aaT	p.K247N	NOP14_ENST00000398071.4_Missense_Mutation_p.K247N|NOP14_ENST00000502735.1_Missense_Mutation_p.K247N|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.K247N	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	247					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCACCTTGGGTTTTTCCTTTT	0.507																																																	0			4											217.0	195.0	203.0					4																	2955244		2203	4300	6503	2925042	SO:0001583	missense	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.741A>T	4.37:g.2955244T>A	ENSP00000315674:p.Lys247Asn	Somatic		Capture	Illumina HiSeq	Phase_I	2925042	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760723	0.31137	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.94	-6.93	0.01638	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.89904	3.07	0.53005	D	0.999962	B;B	0.27450	0.107;0.179	B;B	0.30943	0.122;0.104	T	0.46034	-0.9220	10	0.87932	D	0	-23.6138	17.7494	0.88430	0.0:0.7074:0.0:0.2926	.	247;247	E9PFK5;P78316	.;NOP14_HUMAN	N	247;247;247;247;146	ENSP00000405068:K247N;ENSP00000315674:K247N;ENSP00000427415:K247N;ENSP00000381146:K247N	ENSP00000315674:K247N	K	-	3	2	NOP14	2925042	0.108000	0.22018	0.573000	0.28510	0.129000	0.20672	-0.666000	0.05280	-1.534000	0.01743	-0.415000	0.06103	AAA		NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
STIM2	57620	hgsc.bcm.edu	37	4	27010417	27010417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:27010417C>T	ENST00000467011.1	+	10	1707	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	STIM2_ENST00000382009.3_Nonsense_Mutation_p.R523*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.R515*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.R436*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.R428*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.R515*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	428					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AACTTGTTTACGAGAACGACT	0.413																																																	0			4											71.0	73.0	72.0					4																	27010417		2203	4300	6503	26619515	SO:0001587	stop_gained	57620			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1282C>T	4.37:g.27010417C>T	ENSP00000419383:p.Arg428*	Somatic		Capture	Illumina HiSeq	Phase_I	26619515	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	43	9.836158	0.99276	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	.	.	.	5.95	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8551	0.63522	0.3926:0.6074:0.0:0.0	.	.	.	.	X	428;523;515;428;515;436;136;30	.	ENSP00000237364:R515X	R	+	1	2	STIM2	26619515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.254000	0.32897	1.507000	0.48752	0.563000	0.77884	CGA		STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
LNX1	84708	hgsc.bcm.edu	37	4	54344828	54344828	+	Missense_Mutation	SNP	C	C	T	rs531904689		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:54344828C>T	ENST00000263925.7	-	8	1881	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	LNX1_ENST00000306888.2_Missense_Mutation_p.A427T|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	523	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A427T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCTCCCCCTGCGACGGTCATG	0.468																																																	1	Substitution - Missense(1)	central_nervous_system(1)	4											154.0	148.0	150.0					4																	54344828		2203	4300	6503	54039585	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1567G>A	4.37:g.54344828C>T	ENSP00000263925:p.Ala523Thr	Somatic		Capture	Illumina HiSeq	Phase_I	54039585	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915949	0.73098	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.28255	1.62;1.62	4.83	3.06	0.35304	PDZ/DHR/GLGF (4);	0.152046	0.64402	D	0.000016	T	0.44623	0.1302	L	0.53561	1.675	0.58432	D	0.999999	D;D	0.60160	0.987;0.985	P;P	0.58172	0.834;0.793	T	0.46076	-0.9217	10	0.87932	D	0	.	13.9864	0.64339	0.2763:0.7237:0.0:0.0	.	523;427	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	T	427;361;523	ENSP00000302879:A427T;ENSP00000263925:A523T	ENSP00000263925:A523T	A	-	1	0	LNX1	54039585	0.999000	0.42202	0.829000	0.32907	0.676000	0.39594	4.216000	0.58540	0.715000	0.32103	-0.169000	0.13324	GCA		LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
C4orf26	152816	hgsc.bcm.edu	37	4	76489581	76489581	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:76489581C>T	ENST00000311623.4	+	2	360	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	C4orf26_ENST00000435974.2_Silent_p.T123T	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	109			R -> H (in dbSNP:rs2306174).			extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTGGCCACACCGTTACCTTAC	0.458																																																	0			4											181.0	192.0	188.0					4																	76489581		2203	4300	6503	76708605	SO:0001583	missense	152816			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.325C>T	4.37:g.76489581C>T	ENSP00000311307:p.Arg109Cys	Somatic		Capture	Illumina HiSeq	Phase_I	76708605	B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	37	CCDS3569.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703585	0.48412	.	.	ENSG00000174792	ENST00000311623	T	0.35605	1.3	4.72	-9.45	0.00600	.	2.870760	0.01103	N	0.005427	T	0.20129	0.0484	N	0.19112	0.55	0.09310	N	1	D	0.56521	0.976	B	0.41723	0.365	T	0.44697	-0.9311	9	.	.	.	.	8.2179	0.31524	0.2408:0.4138:0.3455:0.0	.	109	Q17RF5	CD026_HUMAN	C	109	ENSP00000311307:R109C	.	R	+	1	0	C4orf26	76708605	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.558000	0.02164	-2.426000	0.00560	-0.971000	0.02607	CGT		C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
PPEF2	5470	hgsc.bcm.edu	37	4	76797630	76797630	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:76797630C>T	ENST00000286719.7	-	11	1486	c.1130G>A	c.(1129-1131)tGc>tAc	p.C377Y		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	377	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAACCGCTGCAGGGGATGCT	0.657																																					NSCLC(105;1359 1603 15961 44567 47947)												0			4											35.0	36.0	35.0					4																	76797630		2203	4300	6503	77016654	SO:0001583	missense	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1130G>A	4.37:g.76797630C>T	ENSP00000286719:p.Cys377Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	77016654	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919360	0.17982	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.41400	1.0	5.02	5.02	0.67125	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	2.105260	0.01974	N	0.044318	T	0.46560	0.1399	N	0.14661	0.345	0.32122	N	0.587821	P;D	0.61697	0.948;0.99	B;P	0.59288	0.438;0.855	T	0.41215	-0.9521	10	0.21014	T	0.42	-8.0322	11.679	0.51446	0.0:0.8207:0.1792:0.0	.	377;377	O14830-2;O14830	.;PPE2_HUMAN	Y	377	ENSP00000286719:C377Y	ENSP00000286719:C377Y	C	-	2	0	PPEF2	77016654	0.990000	0.36364	0.935000	0.37517	0.180000	0.23129	0.816000	0.27267	2.349000	0.79799	0.491000	0.48974	TGC		PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
PTPN13	5783	hgsc.bcm.edu	37	4	87655980	87655980	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:87655980G>C	ENST00000411767.2	+	14	2166	c.2103G>C	c.(2101-2103)ttG>ttC	p.L701F	PTPN13_ENST00000511467.1_Missense_Mutation_p.L701F|PTPN13_ENST00000316707.6_Missense_Mutation_p.L701F|PTPN13_ENST00000427191.2_Missense_Mutation_p.L701F|PTPN13_ENST00000436978.1_Missense_Mutation_p.L701F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	701	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCCTTATTGCTGGCATCCT	0.408																																																	0			4											202.0	195.0	197.0					4																	87655980		1917	4137	6054	87875004	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2103G>C	4.37:g.87655980G>C	ENSP00000407249:p.Leu701Phe	Somatic		Capture	Illumina HiSeq	Phase_I	87875004	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456654	0.43634	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.85	0.0376	0.14197	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.38111	N	0.001813	D	0.83390	0.5244	M	0.72624	2.21	0.41668	D	0.98922	B;P;D;D	0.89917	0.376;0.859;0.999;1.0	B;P;D;D	0.77004	0.268;0.542;0.989;0.989	T	0.77424	-0.2593	10	0.38643	T	0.18	.	2.17	0.03847	0.2938:0.1964:0.4091:0.1007	.	701;701;701;701	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	701;701;701;701;701;669	ENSP00000408368:L701F;ENSP00000394794:L701F;ENSP00000322675:L701F;ENSP00000407249:L701F;ENSP00000426626:L701F	ENSP00000322675:L701F	L	+	3	2	PTPN13	87875004	0.121000	0.22262	0.149000	0.22428	0.991000	0.79684	-0.113000	0.10774	-0.095000	0.12351	-0.119000	0.15052	TTG		PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	hgsc.bcm.edu	37	4	87680197	87680197	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:87680197T>C	ENST00000411767.2	+	23	3587	c.3524T>C	c.(3523-3525)aTc>aCc	p.I1175T	PTPN13_ENST00000511467.1_Missense_Mutation_p.I1175T|PTPN13_ENST00000316707.6_Missense_Mutation_p.I984T|PTPN13_ENST00000427191.2_Missense_Mutation_p.I1156T|PTPN13_ENST00000436978.1_Missense_Mutation_p.I1175T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1175	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACACTTGTTATCTCTCAGCCA	0.383																																																	0			4											86.0	89.0	88.0					4																	87680197		2033	4205	6238	87899221	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3524T>C	4.37:g.87680197T>C	ENSP00000407249:p.Ile1175Thr	Somatic		Capture	Illumina HiSeq	Phase_I	87899221	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425718	0.83667	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.42	5.42	0.78866	PDZ/DHR/GLGF (4);	0.000000	0.51477	D	0.000087	T	0.70369	0.3216	M	0.86028	2.79	0.49915	D	0.999836	D;P;P;P	0.55605	0.972;0.936;0.955;0.887	P;P;P;P	0.62813	0.742;0.669;0.907;0.763	T	0.76094	-0.3085	10	0.72032	D	0.01	.	15.7586	0.78058	0.0:0.0:0.0:1.0	.	984;1156;1175;1175	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	1156;1175;984;1175;1175;1124	ENSP00000408368:I1156T;ENSP00000394794:I1175T;ENSP00000322675:I984T;ENSP00000407249:I1175T;ENSP00000426626:I1175T	ENSP00000322675:I984T	I	+	2	0	PTPN13	87899221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.175000	0.68902	0.477000	0.44152	ATC		PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
ADAD1	132612	hgsc.bcm.edu	37	4	123302158	123302158	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:123302158G>A	ENST00000296513.2	+	4	369	c.184G>A	c.(184-186)Gag>Aag	p.E62K	ADAD1_ENST00000388724.2_Missense_Mutation_p.E62K|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.E44K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	62					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAATTTTCCAGAGCCGTTGCT	0.323																																																	0			4											60.0	63.0	62.0					4																	123302158		2202	4300	6502	123521608	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.184G>A	4.37:g.123302158G>A	ENSP00000296513:p.Glu62Lys	Somatic		Capture	Illumina HiSeq	Phase_I	123521608	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081063	0.36758	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.37411	1.2;1.21;1.22	5.23	5.23	0.72850	.	0.082845	0.49305	D	0.000152	T	0.32376	0.0827	L	0.29908	0.895	0.36460	D	0.8666	P;P	0.43826	0.818;0.722	B;B	0.43082	0.407;0.231	T	0.22730	-1.0208	10	0.27082	T	0.32	-22.7296	17.5703	0.87933	0.0:0.0:1.0:0.0	.	62;62	Q96M93-2;Q96M93	.;ADAD1_HUMAN	K	62;62;62;62;44	ENSP00000296513:E62K;ENSP00000373376:E62K;ENSP00000373377:E44K	ENSP00000296513:E62K	E	+	1	0	ADAD1	123521608	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	6.530000	0.73816	2.423000	0.82170	0.563000	0.77884	GAG		ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
FAT1	2195	hgsc.bcm.edu	37	4	187539013	187539013	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:187539013G>A	ENST00000441802.2	-	10	8936	c.8727C>T	c.(8725-8727)acC>acT	p.T2909T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2909	Cadherin 26. {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						CGTTGACATCGGTGACGGTAA	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0			4											157.0	146.0	150.0					4																	187539013		2012	4176	6188	187776007	SO:0001819	synonymous_variant	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.8727C>T	4.37:g.187539013G>A		Somatic		Capture	Illumina HiSeq	Phase_I	187776007		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
ADAM17	6868	hgsc.bcm.edu	37	2	9695705	9695705	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:9695705G>T	ENST00000310823.3	-	1	212	c.30C>A	c.(28-30)agC>agA	p.S10R	RP11-214N9.1_ENST00000607241.1_lincRNA|ADAM17_ENST00000497134.1_Missense_Mutation_p.S10R	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	10					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAGGAACCACGCTGGTCAGGA	0.647											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			2											42.0	44.0	43.0					2																	9695705		2201	4298	6499	9613156	SO:0001583	missense	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.30C>A	2.37:g.9695705G>T	ENSP00000309968:p.Ser10Arg	Somatic	658	Capture	Illumina HiSeq	Phase_I	9613156	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376453	0.61735	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.64803	2.01;-0.12	4.71	0.933	0.19471	.	0.800808	0.12004	N	0.508585	T	0.45135	0.1327	L	0.27053	0.805	0.09310	N	1	P;B;P;B	0.44380	0.834;0.065;0.834;0.065	B;B;B;B	0.44044	0.439;0.052;0.322;0.052	T	0.24764	-1.0151	10	0.22109	T	0.4	.	3.841	0.08914	0.2948:0.1858:0.5194:0.0	.	10;10;10;10	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	R	10	ENSP00000309968:S10R;ENSP00000418728:S10R	ENSP00000309968:S10R	S	-	3	2	ADAM17	9613156	0.041000	0.20044	0.020000	0.16555	0.993000	0.82548	0.141000	0.16076	0.058000	0.16222	0.655000	0.94253	AGC		ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
GREB1	9687	hgsc.bcm.edu	37	2	11706632	11706632	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:11706632C>T	ENST00000381486.2	+	4	604	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GREB1_ENST00000381483.2_Missense_Mutation_p.R102C|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.R102C|GREB1_ENST00000234142.5_Missense_Mutation_p.R102C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	102						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAAGGACCTGCGCCTTGTCTC	0.647																																					Ovarian(39;850 945 2785 23371 33093)												0			2											63.0	61.0	62.0					2																	11706632		2203	4300	6503	11624083	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.304C>T	2.37:g.11706632C>T	ENSP00000370896:p.Arg102Cys	Somatic		Capture	Illumina HiSeq	Phase_I	11624083	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321580	0.81580	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.45668	1.82;0.89;0.91;1.82	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.67369	-0.5688	10	0.87932	D	0	-42.6783	12.8833	0.58030	0.2742:0.7258:0.0:0.0	.	102;102;102	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	C	102	ENSP00000370896:R102C;ENSP00000263834:R102C;ENSP00000370892:R102C;ENSP00000234142:R102C	ENSP00000234142:R102C	R	+	1	0	GREB1	11624083	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.154000	0.50693	2.397000	0.81536	0.655000	0.94253	CGC		GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	hgsc.bcm.edu	37	2	11716493	11716493	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:11716493T>C	ENST00000381486.2	+	5	769	c.469T>C	c.(469-471)Tgt>Cgt	p.C157R	GREB1_ENST00000381483.2_Missense_Mutation_p.C157R|GREB1_ENST00000389825.3_Missense_Mutation_p.C47R|GREB1_ENST00000263834.5_Missense_Mutation_p.C157R|GREB1_ENST00000234142.5_Missense_Mutation_p.C157R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	157						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTGGGAATTGTGTTGGCTG	0.383																																					Ovarian(39;850 945 2785 23371 33093)												0			2											143.0	147.0	146.0					2																	11716493		2203	4300	6503	11633944	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.469T>C	2.37:g.11716493T>C	ENSP00000370896:p.Cys157Arg	Somatic		Capture	Illumina HiSeq	Phase_I	11633944	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018271	0.75275	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.79033	1.34;0.31;-1.23;0.46;1.34	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.88958	0.3391	10	0.87932	D	0	-8.5931	14.6441	0.68748	0.0:0.0:0.0:1.0	.	157;47;157;157	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	R	157;157;47;157;157	ENSP00000370896:C157R;ENSP00000263834:C157R;ENSP00000374475:C47R;ENSP00000370892:C157R;ENSP00000234142:C157R	ENSP00000234142:C157R	C	+	1	0	GREB1	11633944	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	7.726000	0.84824	2.049000	0.60858	0.533000	0.62120	TGT		GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
RHOB	388	hgsc.bcm.edu	37	2	20647736	20647736	+	Silent	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:20647736C>G	ENST00000272233.4	+	1	902	c.510C>G	c.(508-510)gtC>gtG	p.V170V		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	170					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	TGCGCGAGGTCTTCGAGACGG	0.682																																																	0			2											56.0	59.0	58.0					2																	20647736		2197	4295	6492	20511217	SO:0001819	synonymous_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.510C>G	2.37:g.20647736C>G		Somatic		Capture	Illumina HiSeq	Phase_I	20511217	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	CCDS1699.1																																																																																				RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040	
HEATR5B	54497	hgsc.bcm.edu	37	2	37310491	37310491	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:37310491G>C	ENST00000233099.5	-	2	162	c.67C>G	c.(67-69)Cca>Gca	p.P23A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P23A|GPATCH11_ENST00000608836.1_5'Flank|GPATCH11_ENST00000281932.5_5'Flank|GPATCH11_ENST00000409774.1_5'Flank	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	23						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGAAAACTGGTCTTTTTGCT	0.378																																																	0			2											136.0	123.0	127.0					2																	37310491		2203	4300	6503	37163995	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.67C>G	2.37:g.37310491G>C	ENSP00000233099:p.Pro23Ala	Somatic		Capture	Illumina HiSeq	Phase_I	37163995	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623522	0.14193	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.68181	-0.31;-0.31	5.63	5.63	0.86233	Armadillo-type fold (1);	0.057213	0.64402	D	0.000001	T	0.41143	0.1146	N	0.02736	-0.51	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	T	0.37888	-0.9686	10	0.18710	T	0.47	-14.1998	12.951	0.58401	0.0737:0.0:0.9263:0.0	.	23	Q9P2D3	HTR5B_HUMAN	A	23	ENSP00000233099:P23A;ENSP00000346531:P23A	ENSP00000233099:P23A	P	-	1	0	HEATR5B	37163995	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	5.694000	0.68272	2.637000	0.89404	0.561000	0.74099	CCA		HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
SLC9A2	6549	hgsc.bcm.edu	37	2	103274048	103274048	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:103274048C>T	ENST00000233969.2	+	2	457	c.315C>T	c.(313-315)ccC>ccT	p.P105P		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	105					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACAAGTTGCCCACAATAGTGC	0.428																																																	0			2											76.0	73.0	74.0					2																	103274048		2203	4300	6503	102640480	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.315C>T	2.37:g.103274048C>T		Somatic		Capture	Illumina HiSeq	Phase_I	102640480	B2RMS2	Silent	SNP	ENST00000233969.2	37	CCDS2062.1																																																																																				SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
ZC3H6	376940	hgsc.bcm.edu	37	2	113074148	113074148	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:113074148A>G	ENST00000409871.1	+	6	1250	c.849A>G	c.(847-849)gaA>gaG	p.E283E	ZC3H6_ENST00000343936.4_Silent_p.E283E	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	283							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACTTCCTGGAAGGGAGGTGTA	0.303																																																	0			2											45.0	43.0	43.0					2																	113074148		1802	4064	5866	112790619	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.849A>G	2.37:g.113074148A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112790619	A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																				ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
DPP10	57628	hgsc.bcm.edu	37	2	116485450	116485450	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:116485450G>A	ENST00000410059.1	+	8	1115	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	DPP10_ENST00000409163.1_Missense_Mutation_p.R162Q|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.R205Q|DPP10_ENST00000393147.2_Missense_Mutation_p.R216Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	212						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTTCATTGCGACTGACATCT	0.308																																																	0			2											53.0	56.0	55.0					2																	116485450		2203	4293	6496	116201920	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.635G>A	2.37:g.116485450G>A	ENSP00000386565:p.Arg212Gln	Somatic		Capture	Illumina HiSeq	Phase_I	116201920	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134072	0.94517	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.46	5.46	0.80206	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.38733	1.17	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.91;0.996;0.968;0.946	T	0.26360	-1.0105	10	0.37606	T	0.19	-23.7844	18.2953	0.90143	0.0:0.0:1.0:0.0	.	205;216;208;212	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Q	212;162;208;216;205;162	ENSP00000386565:R212Q;ENSP00000387038:R162Q;ENSP00000376854:R208Q;ENSP00000376855:R216Q;ENSP00000309066:R205Q	ENSP00000309066:R205Q	R	+	2	0	DPP10	116201920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.631000	0.98424	2.570000	0.86706	0.591000	0.81541	CGA		DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
DPP10	57628	hgsc.bcm.edu	37	2	116534805	116534805	+	Missense_Mutation	SNP	G	G	A	rs150929011		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:116534805G>A	ENST00000410059.1	+	14	1723	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	DPP10_ENST00000409163.1_Missense_Mutation_p.V365M|DPP10_ENST00000310323.8_Missense_Mutation_p.V408M|DPP10_ENST00000393147.2_Missense_Mutation_p.V419M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	415						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.V408M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCAAATTACCGTGCGGCATCT	0.378																																																	1	Substitution - Missense(1)	ovary(1)	2						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	3,4403	6.2+/-15.9	0,3,2200	108.0	105.0	106.0		1222,1255,1093,1231,1243	4.1	0.9	2	dbSNP_134	106	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	21,21,21,21,21	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign,benign	408/790,419/801,365/747,411/793,415/797	116534805	3,13001	2203	4299	6502	116251275	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1243G>A	2.37:g.116534805G>A	ENSP00000386565:p.Val415Met	Somatic		Capture	Illumina HiSeq	Phase_I	116251275	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493314	0.44352	6.81E-4	0.0	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.97	4.1	0.47936	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.202355	0.42548	N	0.000696	T	0.20536	0.0494	L	0.29908	0.895	0.44946	D	0.997961	B;P;B;P	0.38677	0.385;0.524;0.439;0.642	B;B;B;B	0.36378	0.063;0.086;0.104;0.223	T	0.04115	-1.0976	10	0.62326	D	0.03	-14.5709	7.6174	0.28167	0.1874:0.0:0.8126:0.0	.	408;419;411;415	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	415;365;419;408;365	ENSP00000386565:V415M;ENSP00000387038:V365M;ENSP00000376855:V419M;ENSP00000309066:V408M	ENSP00000309066:V408M	V	+	1	0	DPP10	116251275	1.000000	0.71417	0.893000	0.35052	0.992000	0.81027	3.538000	0.53597	1.452000	0.47756	0.655000	0.94253	GTG		DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
LRP1B	53353	hgsc.bcm.edu	37	2	141665450	141665450	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:141665450G>T	ENST00000389484.3	-	22	4487	c.3516C>A	c.(3514-3516)ctC>ctA	p.L1172L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1172	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATACCACAGAGATAGCCTT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2											174.0	181.0	179.0					2																	141665450		2203	4300	6503	141381920	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3516C>A	2.37:g.141665450G>T		Somatic		Capture	Illumina HiSeq	Phase_I	141381920	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTN	7273	hgsc.bcm.edu	37	2	179432537	179432537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:179432537G>A	ENST00000591111.1	-	276	73623	c.73399C>T	c.(73399-73401)Cag>Tag	p.Q24467*	TTN_ENST00000589042.1_Nonsense_Mutation_p.Q26108*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q23540*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q17168*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q17043*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q17235*|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24467	Fibronectin type-III 78. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTGGTCCACTGTAAAGTGATT	0.423																																																	0			2											142.0	133.0	136.0					2																	179432537		1887	4109	5996	179140783	SO:0001587	stop_gained	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.73399C>T	2.37:g.179432537G>A	ENSP00000465570:p.Gln24467*	Somatic		Capture	Illumina HiSeq	Phase_I	179140783	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	63	77.918022	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.58	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3151	0.60403	0.0:0.0:0.7124:0.2876	.	.	.	.	X	23540;17043;17235;17168;17041	.	ENSP00000340554:Q17235X	Q	-	1	0	TTN	179140783	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.246000	0.58740	1.282000	0.44496	0.555000	0.69702	CAG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179629528	179629528	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:179629528C>T	ENST00000591111.1	-	42	9938	c.9714G>A	c.(9712-9714)ccG>ccA	p.P3238P	TTN_ENST00000589042.1_Silent_p.P3238P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P3238P|TTN_ENST00000360870.5_Silent_p.P3238P|TTN_ENST00000359218.5_Silent_p.P3192P|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.P3192P|TTN_ENST00000342175.6_Silent_p.P3192P			Q8WZ42	TITIN_HUMAN	titin	13566			P -> L (in a bladder carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			GAACTTGGGGCGGTTCAGGAG	0.483																																																	0			2											50.0	54.0	52.0					2																	179629528		2203	4300	6503	179337773	SO:0001819	synonymous_variant	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.9714G>A	2.37:g.179629528C>T		Somatic		Capture	Illumina HiSeq	Phase_I	179337773	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SSFA2	6744	hgsc.bcm.edu	37	2	182783548	182783548	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:182783548T>G	ENST00000431877.2	+	13	3111	c.2932T>G	c.(2932-2934)Tta>Gta	p.L978V	SSFA2_ENST00000409001.1_Missense_Mutation_p.L978V|SSFA2_ENST00000320370.7_Missense_Mutation_p.L978V|SSFA2_ENST00000428267.2_Missense_Mutation_p.L825V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L487V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	978						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATGATGGATTTAGAATTGGC	0.373																																																	0			2											69.0	71.0	70.0					2																	182783548		2203	4300	6503	182491793	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2932T>G	2.37:g.182783548T>G	ENSP00000388731:p.Leu978Val	Somatic		Capture	Illumina HiSeq	Phase_I	182491793	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.198544|4.198544	0.79015|0.79015	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000457421|ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	.|T;T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16;1.16	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.065407	.|0.64402	.|D	.|0.000008	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.74881|0.74881	2.28|2.28	0.49483|0.49483	D|D	0.999792|0.999792	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.996;0.997;0.997;0.997	T|T	0.64478|0.64478	-0.6398|-0.6398	5|10	.|0.62326	.|D	.|0.03	-11.6741|-11.6741	16.7021|16.7021	0.85357|0.85357	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|825;487;978;978;978	.|E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.|.;.;.;SSFA2_HUMAN;.	C|V	16|978;978;978;825;487	.|ENSP00000388731:L978V;ENSP00000314669:L978V;ENSP00000387319:L978V;ENSP00000409867:L825V;ENSP00000386916:L487V	.|ENSP00000314669:L978V	F|L	+|+	2|1	0|2	SSFA2|SSFA2	182491793|182491793	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	2.272000|2.272000	0.43373|0.43373	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	TTT|TTA		SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
DUSP19	142679	hgsc.bcm.edu	37	2	183960271	183960271	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:183960271T>C	ENST00000354221.4	+	4	714	c.539T>C	c.(538-540)gTg>gCg	p.V180A	DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Missense_Mutation_p.V129A|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	180	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTTCTTTGGTGAAAAATGCA	0.408																																																	0			2											133.0	135.0	134.0					2																	183960271		2203	4300	6503	183668516	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.539T>C	2.37:g.183960271T>C	ENSP00000346160:p.Val180Ala	Somatic		Capture	Illumina HiSeq	Phase_I	183668516	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.647117	0.67358	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.89270	-2.49;-2.49	5.74	5.74	0.90152	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.107189	0.64402	D	0.000005	D	0.93533	0.7936	M	0.83118	2.625	0.80722	D	1	P;P	0.46578	0.778;0.88	B;P	0.55087	0.399;0.768	D	0.94081	0.7344	10	0.62326	D	0.03	.	16.0247	0.80536	0.0:0.0:0.0:1.0	.	129;180	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	A	129;180	ENSP00000343905:V129A;ENSP00000346160:V180A	ENSP00000343905:V129A	V	+	2	0	DUSP19	183668516	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.193000	0.77780	2.189000	0.69895	0.482000	0.46254	GTG		DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
FAM171B	165215	hgsc.bcm.edu	37	2	187626640	187626640	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:187626640G>A	ENST00000304698.5	+	8	1774	c.1571G>A	c.(1570-1572)cGt>cAt	p.R524H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	524						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCGTATGGGCGTTCCCATATT	0.413																																																	0			2											96.0	86.0	89.0					2																	187626640		2203	4300	6503	187334885	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1571G>A	2.37:g.187626640G>A	ENSP00000304108:p.Arg524His	Somatic		Capture	Illumina HiSeq	Phase_I	187334885	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	7.176	0.588699	0.13812	.	.	ENSG00000144369	ENST00000304698	T	0.43688	0.94	5.79	-1.6	0.08426	.	0.601209	0.19035	N	0.124449	T	0.16041	0.0386	N	0.08118	0	0.21984	N	0.999436	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18178	-1.0345	10	0.17832	T	0.49	2.0E-4	5.0873	0.14689	0.4883:0.0:0.2936:0.2181	.	524;525	Q6P995;A8K122	F171B_HUMAN;.	H	524	ENSP00000304108:R524H	ENSP00000304108:R524H	R	+	2	0	FAM171B	187334885	0.719000	0.27986	0.492000	0.27490	0.664000	0.39144	0.582000	0.23834	-0.176000	0.10707	-0.140000	0.14226	CGT		FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
COL3A1	1281	hgsc.bcm.edu	37	2	189876400	189876400	+	Missense_Mutation	SNP	G	G	A	rs138533702		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:189876400G>A	ENST00000304636.3	+	51	4471	c.4301G>A	c.(4300-4302)cGc>cAc	p.R1434H	COL3A1_ENST00000317840.5_Missense_Mutation_p.R1131H	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1434	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.		R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATCGAACACGCAAGGCTGTG	0.393																																																	0			2						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	224.0	201.0	209.0		4301	4.8	1.0	2	dbSNP_134	209	0,8600		0,0,4300	no	missense	COL3A1	NM_000090.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1434/1467	189876400	1,13005	2203	4300	6503	189584645	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4301G>A	2.37:g.189876400G>A	ENSP00000304408:p.Arg1434His	Somatic		Capture	Illumina HiSeq	Phase_I	189584645	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544019	0.45280	2.27E-4	0.0	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73681	-0.77;-0.77	5.7	4.82	0.62117	Fibrillar collagen, C-terminal (4);	0.000000	0.52532	D	0.000072	T	0.75332	0.3835	M	0.77313	2.365	0.25222	N	0.989896	B	0.16396	0.017	B	0.15484	0.013	T	0.68519	-0.5387	10	0.59425	D	0.04	.	14.8672	0.70425	0.0691:0.0:0.9309:0.0	.	1434	P02461	CO3A1_HUMAN	H	1434;1131	ENSP00000304408:R1434H;ENSP00000315243:R1131H	ENSP00000304408:R1434H	R	+	2	0	COL3A1	189584645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.130000	0.50508	1.409000	0.46915	0.591000	0.81541	CGC		COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
PGAP1	80055	hgsc.bcm.edu	37	2	197757952	197757952	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:197757952C>A	ENST00000354764.4	-	8	1059	c.945G>T	c.(943-945)aaG>aaT	p.K315N	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.K273N|PGAP1_ENST00000409475.1_Missense_Mutation_p.K315N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	315					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACAGTTTCTTCTTGGAATTTT	0.313																																																	0			2											105.0	109.0	108.0					2																	197757952		2203	4299	6502	197466197	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.945G>T	2.37:g.197757952C>A	ENSP00000346809:p.Lys315Asn	Somatic		Capture	Illumina HiSeq	Phase_I	197466197	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440661	0.43326	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	4.9	3.94	0.45596	.	0.195026	0.48767	D	0.000172	T	0.47563	0.1452	N	0.19112	0.55	0.34611	D	0.717604	B;B;D	0.71674	0.024;0.383;0.998	B;B;D	0.76071	0.014;0.151;0.987	T	0.48186	-0.9057	9	0.17832	T	0.49	-9.6702	10.5792	0.45246	0.0:0.8984:0.0:0.1016	.	273;315;315	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	95;315;315;273;95	.	ENSP00000346809:K315N	K	-	3	2	PGAP1	197466197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.213000	0.42844	2.552000	0.86080	0.563000	0.77884	AAG		PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
HSPD1	3329	hgsc.bcm.edu	37	2	198362021	198362021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:198362021G>T	ENST00000388968.3	-	3	537	c.270C>A	c.(268-270)taC>taA	p.Y90*	HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Nonsense_Mutation_p.Y90*|HSPD1_ENST00000544407.1_Nonsense_Mutation_p.Y90*|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	90					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CAATGTTTTTGTATTTATCTT	0.403																																																	0			2											100.0	95.0	97.0					2																	198362021		2203	4300	6503	198070266	SO:0001587	stop_gained	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.270C>A	2.37:g.198362021G>T	ENSP00000373620:p.Tyr90*	Somatic		Capture	Illumina HiSeq	Phase_I	198070266	B2R5M6|B7Z712|Q38L19|Q9UCR6	Nonsense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.933021	0.52866	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204	.	.	.	4.24	-0.0211	0.13953	.	0.057615	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-18.1988	10.7303	0.46093	0.3921:0.0:0.6079:0.0	.	.	.	.	X	90;90;90;90;90;132;90	.	ENSP00000340019:Y90X	Y	-	3	2	HSPD1	198070266	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.640000	0.37186	-0.084000	0.12595	-0.302000	0.09304	TAC		HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156	
KCTD18	130535	hgsc.bcm.edu	37	2	201371645	201371645	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:201371645C>T	ENST00000359878.3	-	2	605	c.95G>A	c.(94-96)cGc>cAc	p.R32H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R32H|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	32	BTB.				protein homooligomerization (GO:0051260)			p.R32L(1)|p.R32H(1)|p.R32P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCCTTGAAGCGGCACAAGGA	0.483																																																	3	Substitution - Missense(3)	ovary(1)|lung(1)|endometrium(1)	2											75.0	81.0	79.0					2																	201371645		2203	4300	6503	201079890	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.95G>A	2.37:g.201371645C>T	ENSP00000352941:p.Arg32His	Somatic		Capture	Illumina HiSeq	Phase_I	201079890	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633365	0.87660	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.48522	0.81;0.81	5.46	5.46	0.80206	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000004	T	0.71022	0.3291	M	0.84846	2.72	0.41654	D	0.989142	D;D	0.89917	0.997;1.0	P;D	0.77004	0.796;0.989	T	0.75385	-0.3336	10	0.87932	D	0	-18.4704	14.0045	0.64453	0.1512:0.8488:0.0:0.0	.	32;32	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	H	32	ENSP00000352941:R32H;ENSP00000386751:R32H	ENSP00000352941:R32H	R	-	2	0	KCTD18	201079890	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.085000	0.50151	2.840000	0.97914	0.655000	0.94253	CGC		KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
FZD7	8324	hgsc.bcm.edu	37	2	202900224	202900224	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:202900224C>T	ENST00000286201.1	+	1	915	c.854C>T	c.(853-855)cCa>cTa	p.P285L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	285					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TTCAGCTACCCAGAGCGGCCC	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			2											112.0	113.0	113.0					2																	202900224		2203	4300	6503	202608469	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.854C>T	2.37:g.202900224C>T	ENSP00000286201:p.Pro285Leu	Somatic	2133	Capture	Illumina HiSeq	Phase_I	202608469	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472127	0.84533	.	.	ENSG00000155760	ENST00000286201	D	0.91740	-2.9	5.13	5.13	0.70059	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98732	1.0713	10	0.87932	D	0	.	18.7816	0.91934	0.0:1.0:0.0:0.0	.	285	O75084	FZD7_HUMAN	L	285	ENSP00000286201:P285L	ENSP00000286201:P285L	P	+	2	0	FZD7	202608469	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	7.580000	0.82523	2.678000	0.91216	0.563000	0.77884	CCA		FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
MDH1B	130752	hgsc.bcm.edu	37	2	207619951	207619951	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:207619951C>A	ENST00000374412.3	-	5	967	c.692G>T	c.(691-693)aGc>aTc	p.S231I	MDH1B_ENST00000454776.2_Missense_Mutation_p.S231I|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.S133I	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	231					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGGCACCCTGCTTCGGAGGCA	0.552																																					Pancreas(76;29 1355 28675 37177 51207)												0			2											62.0	58.0	60.0					2																	207619951		2203	4300	6503	207328196	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.692G>T	2.37:g.207619951C>A	ENSP00000363533:p.Ser231Ile	Somatic		Capture	Illumina HiSeq	Phase_I	207328196	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247907	0.22880	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08370	3.1;3.1;3.1	5.68	0.83	0.18854	NAD(P)-binding domain (1);	0.655088	0.17294	N	0.179530	T	0.09512	0.0234	M	0.63428	1.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.13407	0.009;0.004	T	0.21621	-1.0240	10	0.62326	D	0.03	-8.3295	7.373	0.26813	0.0:0.4647:0.1126:0.4227	.	231;231	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	I	231;133;231	ENSP00000363533:S231I;ENSP00000416577:S133I;ENSP00000389916:S231I	ENSP00000363533:S231I	S	-	2	0	MDH1B	207328196	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.049000	0.14099	0.149000	0.19098	-0.808000	0.03180	AGC		MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
NGEF	25791	hgsc.bcm.edu	37	2	233752756	233752756	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:233752756T>A	ENST00000264051.3	-	9	1612	c.1334A>T	c.(1333-1335)aAg>aTg	p.K445M	NGEF_ENST00000373552.4_Missense_Mutation_p.K353M|NGEF_ENST00000539537.1_Missense_Mutation_p.K168M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	445	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K445R(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCCAGCTCCTTGTGAGCATC	0.512																																																	1	Substitution - Missense(1)	ovary(1)	2											173.0	145.0	154.0					2																	233752756		2203	4300	6503	233461000	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1334A>T	2.37:g.233752756T>A	ENSP00000264051:p.Lys445Met	Somatic		Capture	Illumina HiSeq	Phase_I	233461000	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.02|16.02	3.004661|3.004661	0.54254|0.54254	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114|ENST00000424488	T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18|.	5.21|5.21	-2.83|-2.83	0.05769|0.05769	Dbl homology (DH) domain (5);|.	0.417418|.	0.27531|.	N|.	0.018945|.	T|T	0.51346|0.51346	0.1669|0.1669	M|M	0.67397|0.67397	2.05|2.05	0.22873|0.22873	N|N	0.998623|0.998623	D;D|.	0.55800|.	0.973;0.963|.	P;P|.	0.60345|.	0.852;0.873|.	T|T	0.54070|0.54070	-0.8348|-0.8348	10|5	0.54805|.	T|.	0.06|.	-17.1457|-17.1457	11.7917|11.7917	0.52073|0.52073	0.0:0.4609:0.0:0.5391|0.0:0.4609:0.0:0.5391	.|.	353;445|.	E9PC42;Q8N5V2|.	.;NGEF_HUMAN|.	M|W	445;353;335;168;168|37	ENSP00000264051:K445M;ENSP00000362653:K353M;ENSP00000439035:K168M;ENSP00000401063:K168M|.	ENSP00000264051:K445M|.	K|R	-|-	2|1	0|2	NGEF|NGEF	233461000|233461000	0.274000|0.274000	0.24191|0.24191	0.229000|0.229000	0.23960|0.23960	0.842000|0.842000	0.47809|0.47809	0.722000|0.722000	0.25925|0.25925	-0.425000|-0.425000	0.07371|0.07371	-0.402000|-0.402000	0.06365|0.06365	AAG|AGG		NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
PER2	8864	hgsc.bcm.edu	37	2	239162195	239162195	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr2:239162195C>T	ENST00000254657.3	-	19	2748	c.2469G>A	c.(2467-2469)ctG>ctA	p.L823L	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	823			L -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAAGCCCACCAGCGGGGGCC	0.622																																																	0			2											14.0	15.0	15.0					2																	239162195		2198	4294	6492	238826934	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2469G>A	2.37:g.239162195C>T		Somatic		Capture	Illumina HiSeq	Phase_I	238826934	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	CCDS2528.1																																																																																				PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
HAUS6	54801	hgsc.bcm.edu	37	9	19063008	19063008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:19063008C>A	ENST00000380502.3	-	14	2094	c.1627G>T	c.(1627-1629)Gag>Tag	p.E543*	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Nonsense_Mutation_p.E407*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413																																																	1	Substitution - Missense(1)	ovary(1)	9											164.0	149.0	154.0					9																	19063008		2203	4300	6503	19053008	SO:0001587	stop_gained	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1627G>T	9.37:g.19063008C>A	ENSP00000369871:p.Glu543*	Somatic		Capture	Illumina HiSeq	Phase_I	19053008	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231171	0.95207	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	.	.	.	5.54	5.54	0.83059	.	0.101103	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6635	16.2177	0.82239	0.0:1.0:0.0:0.0	.	.	.	.	X	543;407;59	.	ENSP00000369865:E407X	E	-	1	0	HAUS6	19053008	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.950000	0.49081	2.606000	0.88127	0.563000	0.77884	GAG		HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
CNTNAP3	79937	hgsc.bcm.edu	37	9	39178351	39178351	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:39178351T>C	ENST00000297668.6	-	5	618	c.545A>G	c.(544-546)gAg>gGg	p.E182G	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.E94G|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.E182G|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.E182G|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.E182G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	182					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATAAACCACCTCAGATTCTAG	0.323																																																	0			9											63.0	74.0	70.0					9																	39178351		2187	4289	6476	39168351	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.545A>G	9.37:g.39178351T>C	ENSP00000297668:p.Glu182Gly	Somatic		Capture	Illumina HiSeq	Phase_I	39168351	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356909	0.41801	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	3.16	3.16	0.36331	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);	.	.	.	.	T	0.78413	0.4279	L	0.46157	1.445	0.26749	N	0.97024	P;B;B;P;B	0.52316	0.952;0.389;0.016;0.645;0.389	P;B;B;B;B	0.53266	0.722;0.138;0.008;0.368;0.098	T	0.68006	-0.5523	9	0.45353	T	0.12	.	10.6771	0.45792	0.0:0.0:0.0:1.0	.	182;182;182;182;182	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	G	182;182;94;182;182;94	ENSP00000297668:E182G;ENSP00000366884:E182G;ENSP00000350863:E94G;ENSP00000320728:E182G;ENSP00000366887:E182G	ENSP00000297668:E182G	E	-	2	0	CNTNAP3	39168351	0.908000	0.30866	0.436000	0.26797	0.736000	0.42039	6.442000	0.73443	1.422000	0.47177	0.460000	0.39030	GAG		CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
SPATA31E1	286234	hgsc.bcm.edu	37	9	90500388	90500388	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:90500388G>A	ENST00000325643.5	+	4	1052	c.986G>A	c.(985-987)cGg>cAg	p.R329Q		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	329					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCCACGGCATCTTCCC	0.617																																																	0			9											50.0	52.0	51.0					9																	90500388		2203	4300	6503	89690208	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.986G>A	9.37:g.90500388G>A	ENSP00000322640:p.Arg329Gln	Somatic		Capture	Illumina HiSeq	Phase_I	89690208	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.144	0.785808	0.16189	.	.	ENSG00000177992	ENST00000325643	T	0.03330	3.97	2.72	-1.19	0.09585	.	1.435330	0.04726	N	0.420210	T	0.01254	0.0041	N	0.00538	-1.39	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.45366	-0.9266	10	0.24483	T	0.36	.	5.806	0.18440	0.5422:0.0:0.4578:0.0	.	329	Q6ZUB1	CI079_HUMAN	Q	329	ENSP00000322640:R329Q	ENSP00000322640:R329Q	R	+	2	0	C9orf79	89690208	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.338000	0.07842	-0.098000	0.12285	-0.416000	0.06073	CGG		SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
PTCH1	5727	hgsc.bcm.edu	37	9	98248148	98248148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:98248148G>A	ENST00000331920.6	-	3	702	c.403C>T	c.(403-405)Cga>Tga	p.R135*	PTCH1_ENST00000418258.1_De_novo_Start_OutOfFrame|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.R69*|PTCH1_ENST00000421141.1_De_novo_Start_OutOfFrame|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.R69*|PTCH1_ENST00000429896.2_De_novo_Start_OutOfFrame|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.R69*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.R134*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	135					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R135*(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGACTTACTCGTCCTCCAACT	0.373																																																	2	Substitution - Nonsense(2)	bone(2)	9	GRCh37	CM971257	PTCH1	M							128.0	132.0	130.0					9																	98248148		2203	4300	6503	97287969	SO:0001587	stop_gained	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.403C>T	9.37:g.98248148G>A	ENSP00000332353:p.Arg135*	Somatic		Capture	Illumina HiSeq	Phase_I	97287969	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	38	6.805447	0.97853	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000430669;ENST00000375274;ENST00000468211	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9287	14.7486	0.69508	0.0:0.0:0.8554:0.1446	.	.	.	.	X	135;69;69;134;69	.	ENSP00000332353:R135X	R	-	1	2	PTCH1	97287969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.916000	0.63362	2.719000	0.93026	0.655000	0.94253	CGA		PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ASTN2	23245	hgsc.bcm.edu	37	9	119770416	119770416	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:119770416G>T	ENST00000313400.4	-	7	1646	c.1546C>A	c.(1546-1548)Caa>Aaa	p.Q516K	ASTN2_ENST00000361209.2_Missense_Mutation_p.Q465K|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q516K			O75129	ASTN2_HUMAN	astrotactin 2	516	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCGTCCTTTGTCCACAGAGG	0.577																																																	0			9											95.0	86.0	89.0					9																	119770416		2203	4300	6503	118810237	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1546C>A	9.37:g.119770416G>T	ENSP00000314038:p.Gln516Lys	Somatic		Capture	Illumina HiSeq	Phase_I	118810237	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	G	18.56	3.649398	0.67358	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.11385	2.95;2.95;2.78;2.98	5.67	5.67	0.87782	.	0.073084	0.56097	D	0.000024	T	0.12817	0.0311	N	0.24115	0.695	0.53688	D	0.999972	P;P;B	0.52170	0.681;0.951;0.39	B;P;B	0.47299	0.276;0.543;0.208	T	0.07597	-1.0764	9	.	.	.	-22.8811	19.7848	0.96432	0.0:0.0:1.0:0.0	.	465;516;516	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	K	516;516;243;465	ENSP00000314038:Q516K;ENSP00000363108:Q516K;ENSP00000363098:Q243K;ENSP00000354504:Q465K	.	Q	-	1	0	ASTN2	118810237	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.708000	0.84633	2.673000	0.90976	0.655000	0.94253	CAA		ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
ASTN2	23245	hgsc.bcm.edu	37	9	119976922	119976922	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:119976922C>T	ENST00000313400.4	-	3	830	c.730G>A	c.(730-732)Gca>Aca	p.A244T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A244T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A244T			O75129	ASTN2_HUMAN	astrotactin 2	244					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTGTGCTTGCGCTCTTCTGG	0.637																																																	0			9											63.0	58.0	60.0					9																	119976922		2203	4300	6503	119016743	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.730G>A	9.37:g.119976922C>T	ENSP00000314038:p.Ala244Thr	Somatic		Capture	Illumina HiSeq	Phase_I	119016743	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.545304	0.86022	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.14144	2.61;2.61;2.53	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.25717	0.0626	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.983	T	0.02751	-1.1115	9	.	.	.	-15.5834	19.0397	0.92993	0.0:1.0:0.0:0.0	.	244;244;244	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	244	ENSP00000314038:A244T;ENSP00000363108:A244T;ENSP00000354504:A244T	.	A	-	1	0	ASTN2	119016743	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	7.783000	0.85696	2.599000	0.87857	0.655000	0.94253	GCA		ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
ZBTB43	23099	hgsc.bcm.edu	37	9	129594890	129594890	+	Silent	SNP	C	C	T	rs371516295		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:129594890C>T	ENST00000373464.4	+	3	366	c.102C>T	c.(100-102)gaC>gaT	p.D34D	ZBTB43_ENST00000449886.1_Silent_p.D34D|ZBTB43_ENST00000373457.1_Silent_p.D34D	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTATGTGACGTCTCCATTG	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0																0			9						C	,	1,4405	2.1+/-5.4	0,1,2202	105.0	92.0	96.0		102,102	-1.6	1.0	9		96	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	ZBTB43	NM_001135776.1,NM_014007.3	,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,	34/468,34/468	129594890	6,13000	2203	4300	6503	128634711	SO:0001819	synonymous_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.102C>T	9.37:g.129594890C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128634711	Q5JU96	Silent	SNP	ENST00000373464.4	37	CCDS6867.1																																																																																				ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776	
LCN9	392399	hgsc.bcm.edu	37	9	138557188	138557188	+	Silent	SNP	G	G	A	rs367648675		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:138557188G>A	ENST00000277526.3	+	4	405	c.405G>A	c.(403-405)acG>acA	p.T135T	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	135						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGACCCACACGCTGGCGCTCT	0.642																																																	0			9						G		1,4175		0,1,2087	61.0	69.0	66.0		405	2.2	0.8	9		66	0,8372		0,0,4186	no	coding-synonymous	LCN9	NM_001001676.1		0,1,6273	AA,AG,GG		0.0,0.0239,0.0080		135/177	138557188	1,12547	2088	4186	6274	137697009	SO:0001819	synonymous_variant	392399			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.405G>A	9.37:g.138557188G>A		Somatic		Capture	Illumina HiSeq	Phase_I	137697009	C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	CCDS56593.1																																																																																				LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676	
CACNA1B	774	hgsc.bcm.edu	37	9	141016272	141016272	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr9:141016272G>A	ENST00000371372.1	+	47	6986	c.6841G>A	c.(6841-6843)Gag>Aag	p.E2281K	CACNA1B_ENST00000277549.5_Missense_Mutation_p.E1475K|CACNA1B_ENST00000277551.2_Silent_p.S2218S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E2282K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E2279K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E2280K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2281					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCACTTTCGAGGAGGCTGT	0.647																																																	0			9											48.0	53.0	51.0					9																	141016272		2082	4200	6282	140136093	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6841G>A	9.37:g.141016272G>A	ENSP00000360423:p.Glu2281Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140136093	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201561	0.79015	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97888	-4.35;-4.59;-4.35;-4.34;-4.34	5.11	5.11	0.69529	.	0.527437	0.19548	N	0.111627	D	0.96577	0.8883	M	0.68952	2.095	0.50813	D	0.999895	D;P	0.55605	0.972;0.939	B;B	0.39805	0.31;0.31	D	0.97286	0.9921	10	0.66056	D	0.02	.	18.5267	0.90975	0.0:0.0:1.0:0.0	.	2280;2279	B1AQK7;B1AQK6	.;.	K	2281;1475;2279;2280;2282	ENSP00000360423:E2281K;ENSP00000277549:E1475K;ENSP00000360414:E2279K;ENSP00000360408:E2280K;ENSP00000360406:E2282K	ENSP00000277549:E1475K	E	+	1	0	CACNA1B	140136093	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.520000	0.73773	2.381000	0.81170	0.555000	0.69702	GAG		CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
NUPL1	9818	hgsc.bcm.edu	37	13	25911115	25911115	+	Missense_Mutation	SNP	G	G	A	rs373360958		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr13:25911115G>A	ENST00000381736.3	+	14	1727	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G481S	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	493	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AACGCCATTCGGCTCAGGTAT	0.378																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0			13						G	SER/GLY,SER/GLY	0,4406		0,0,2203	84.0	80.0	81.0		1477,1441	4.9	1.0	13		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NUPL1	NM_014089.3,NM_001008564.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	493/600,481/588	25911115	1,13005	2203	4300	6503	24809115	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1477G>A	13.37:g.25911115G>A	ENSP00000371155:p.Gly493Ser	Somatic		Capture	Illumina HiSeq	Phase_I	24809115	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643806	0.67244	0.0	1.16E-4	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.33654	1.4;1.44	5.78	4.94	0.65067	.	0.227351	0.45606	N	0.000346	T	0.27866	0.0686	L	0.31664	0.95	0.44937	D	0.997953	B;B	0.24186	0.014;0.099	B;B	0.20577	0.01;0.03	T	0.03706	-1.1011	10	0.25751	T	0.34	-1.1943	14.9374	0.70967	0.0687:0.0:0.9313:0.0	.	481;493	A6NI12;Q9BVL2	.;NUPL1_HUMAN	S	493;470;481	ENSP00000371155:G493S;ENSP00000371137:G481S	ENSP00000318459:G470S	G	+	1	0	NUPL1	24809115	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.949000	0.70257	1.451000	0.47736	0.585000	0.79938	GGC		NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		
SPG20	23111	hgsc.bcm.edu	37	13	36888471	36888471	+	Missense_Mutation	SNP	C	C	T	rs7321457	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr13:36888471C>T	ENST00000451493.1	-	6	1593	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	SPG20_ENST00000355182.4_Missense_Mutation_p.R459Q|SPG20_ENST00000438666.2_Missense_Mutation_p.R459Q|SPG20_ENST00000494062.2_Missense_Mutation_p.R459Q	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	459					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGGTTGAATCCGCTCTCGGAG	0.463													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		14771	0.0		0.0	False		,,,				2504	0.0																0			13						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	9.9+/-24.2	0,4,2199	111.0	111.0	111.0		1376,1376,1376,1376	3.2	1.0	13	dbSNP_116	111	0,8600		0,0,4300	yes	missense,missense,missense,missense	SPG20	NM_001142294.1,NM_001142295.1,NM_001142296.1,NM_015087.4	43,43,43,43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	459/667,459/667,459/667,459/667	36888471	4,13002	2203	4300	6503	35786471	SO:0001583	missense	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1376G>A	13.37:g.36888471C>T	ENSP00000414147:p.Arg459Gln	Somatic		Capture	Illumina HiSeq	Phase_I	35786471	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524314	0.85600	9.08E-4	0.0	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89050	-2.46;-2.46;-2.46	5.85	3.15	0.36227	Senescence/spartin-associated (1);	0.126087	0.53938	D	0.000057	D	0.86364	0.5915	L	0.47190	1.495	0.31888	N	0.61756	D;D	0.64830	0.994;0.994	P;P	0.50791	0.65;0.65	D	0.85868	0.1414	10	0.51188	T	0.08	-12.7412	6.1141	0.20117	0.0:0.5895:0.0:0.4105	rs7321457;rs7321457	459;459	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	Q	459	ENSP00000406061:R459Q;ENSP00000347314:R459Q;ENSP00000414147:R459Q	ENSP00000347314:R459Q	R	-	2	0	SPG20	35786471	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.265000	0.43311	1.467000	0.48044	0.563000	0.77884	CGG		SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
CDADC1	81602	hgsc.bcm.edu	37	13	49854742	49854742	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr13:49854742C>A	ENST00000251108.6	+	8	1431	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K	CDADC1_ENST00000444959.1_Missense_Mutation_p.Q242K	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	440							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AGGCATAAAACAAATCTATGC	0.388																																																	0			13											111.0	107.0	108.0					13																	49854742		2203	4300	6503	48752743	SO:0001583	missense	81602			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1318C>A	13.37:g.49854742C>A	ENSP00000251108:p.Gln440Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48752743	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823859	0.90873	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.37915	1.17;1.17	5.64	5.64	0.86602	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.051153	0.85682	D	0.000000	T	0.33876	0.0878	N	0.02697	-0.525	0.80722	D	1	P	0.50066	0.931	P	0.57283	0.817	T	0.48801	-0.9003	10	0.46703	T	0.11	-16.993	19.0502	0.93039	0.0:1.0:0.0:0.0	.	440	Q9BWV3	CDAC1_HUMAN	K	440;242	ENSP00000251108:Q440K;ENSP00000407226:Q242K	ENSP00000251108:Q440K	Q	+	1	0	CDADC1	48752743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.062000	0.76706	2.816000	0.96949	0.561000	0.74099	CAA		CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
PCDH17	27253	hgsc.bcm.edu	37	13	58207643	58207643	+	Silent	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr13:58207643G>C	ENST00000377918.3	+	1	989	c.963G>C	c.(961-963)gtG>gtC	p.V321V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATTGACGTGCAGGCCCGAG	0.592																																					Melanoma(72;952 1291 1619 12849 33676)												0			13											81.0	77.0	78.0					13																	58207643		2203	4300	6503	57105644	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.963G>C	13.37:g.58207643G>C		Somatic		Capture	Illumina HiSeq	Phase_I	57105644	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
KLF12	11278	hgsc.bcm.edu	37	13	74289528	74289528	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr13:74289528T>C	ENST00000377669.2	-	6	1030	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	KLF12_ENST00000377666.4_Missense_Mutation_p.K335R	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	335					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CCGGTGAGCCTTCAGGTGAGA	0.537																																																	0			13											173.0	141.0	152.0					13																	74289528		2203	4300	6503	73187529	SO:0001583	missense	11278			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.1004A>G	13.37:g.74289528T>C	ENSP00000366897:p.Lys335Arg	Somatic		Capture	Illumina HiSeq	Phase_I	73187529	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038950	0.93630	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.36157	1.27;1.27	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.33523	-0.9865	10	0.36615	T	0.2	.	15.3448	0.74327	0.0:0.0:0.0:1.0	.	335	Q9Y4X4	KLF12_HUMAN	R	335	ENSP00000366897:K335R;ENSP00000366894:K335R	ENSP00000344057:K335R	K	-	2	0	KLF12	73187529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.978000	0.88095	2.216000	0.71823	0.533000	0.62120	AAG		KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249	
ERCC6	2074	hgsc.bcm.edu	37	10	50678650	50678650	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:50678650T>C	ENST00000355832.5	-	18	3434	c.3356A>G	c.(3355-3357)gAg>gGg	p.E1119G	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.E489G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1119			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.E1119L(1)|p.E1119V(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTGACAACTCTTCTGGTCC	0.398								Direct reversal of damage;Nucleotide excision repair (NER)																																									2	Substitution - Missense(2)	breast(2)	10											162.0	153.0	156.0					10																	50678650		2203	4300	6503	50348656	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3356A>G	10.37:g.50678650T>C	ENSP00000348089:p.Glu1119Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50348656	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729034	0.30684	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83419	-1.72;-1.45	5.95	0.933	0.19471	.	.	.	.	.	T	0.74839	0.3769	L	0.53249	1.67	0.09310	N	1	B;B	0.20887	0.049;0.001	B;B	0.16722	0.016;0.001	T	0.58059	-0.7703	9	0.27082	T	0.32	-0.1099	5.3758	0.16164	0.0:0.3612:0.1514:0.4874	.	1119;496	Q03468;Q59FF6	ERCC6_HUMAN;.	G	1119;496;489	ENSP00000348089:E1119G;ENSP00000445134:E489G	ENSP00000348089:E1119G	E	-	2	0	ERCC6	50348656	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.463000	0.21972	-0.076000	0.12775	0.533000	0.62120	GAG		ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
CSTF2T	23283	hgsc.bcm.edu	37	10	53459173	53459173	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:53459173C>A	ENST00000331173.4	-	1	182	c.137G>T	c.(136-138)cGg>cTg	p.R46L	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	46	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GTATACCAGCCGGAAACTGAC	0.522																																																	0			10											143.0	146.0	145.0					10																	53459173		2203	4300	6503	53129179	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.137G>T	10.37:g.53459173C>A	ENSP00000332444:p.Arg46Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53129179	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546161	0.86022	.	.	ENSG00000177613	ENST00000331173	T	0.17691	2.26	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	L	0.52905	1.665	0.80722	D	1	B	0.20368	0.044	B	0.28305	0.088	T	0.03008	-1.1083	10	0.87932	D	0	-5.4288	16.3988	0.83632	0.0:1.0:0.0:0.0	.	46	Q9H0L4	CSTFT_HUMAN	L	46	ENSP00000332444:R46L	ENSP00000332444:R46L	R	-	2	0	CSTF2T	53129179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.130000	0.77235	2.826000	0.97356	0.491000	0.48974	CGG		CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235	
PTEN	5728	hgsc.bcm.edu	37	10	89624235	89624235	+	Silent	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:89624235C>T	ENST00000371953.3	+	1	1366	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	3					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.A3fs*21(2)|p.I4fs*6(1)|p.M1fs*24(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACATGACAGCCATCATCAAAG	0.498		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	55	Whole gene deletion(37)|Unknown(13)|Complex - frameshift(3)|Deletion - Frameshift(2)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											150.0	149.0	149.0					10																	89624235		2203	4300	6503	89614215	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.9C>T	10.37:g.89624235C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89614215	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692923	89692924	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G|T	G|T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:89692923_89692924GT>AC	ENST00000371953.3	+	5	1764_1765	c.407_408GT>AC	c.(406-408)tGT>tAC	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTAT	0.391		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	71	Whole gene deletion(37)|Substitution - Missense(14)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(14)|endometrium(11)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|upper_aerodigestive_tract(1)|meninges(1)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CM983501	PTEN	M																																				89682903|89682904	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	Exception_encountered	10.37:g.89692923_89692924delinsAC	ENSP00000361021:p.Cys136Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	89682903|89682904	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation|Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720865	89720865	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:89720865C>T	ENST00000371953.3	+	8	2373	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	339	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.P339L(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTTCTCCAAATTTTAAG	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	10											49.0	52.0	51.0					10																	89720865		2203	4299	6502	89710845	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1016C>T	10.37:g.89720865C>T	ENSP00000361021:p.Pro339Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89710845	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949132	0.92660	.	.	ENSG00000171862	ENST00000371953	D	0.86432	-2.12	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.92697	0.6171	9	.	.	.	-4.5206	19.0916	0.93228	0.0:1.0:0.0:0.0	.	339	P60484	PTEN_HUMAN	L	339	ENSP00000361021:P339L	.	P	+	2	0	PTEN	89710845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.405000	0.80007	2.516000	0.84829	0.591000	0.81541	CCA		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ATRNL1	26033	hgsc.bcm.edu	37	10	116889144	116889144	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:116889144T>C	ENST00000355044.3	+	5	802	c.676T>C	c.(676-678)Tct>Cct	p.S226P	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.S226P	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	226	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTAGTGTCTCTGTTCCAAG	0.363																																																	0			10											155.0	144.0	148.0					10																	116889144		2203	4300	6503	116879134	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.676T>C	10.37:g.116889144T>C	ENSP00000347152:p.Ser226Pro	Somatic		Capture	Illumina HiSeq	Phase_I	116879134	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.850837	0.91277	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.32515	1.45;2.47	5.47	5.47	0.80525	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052476	0.85682	D	0.000000	T	0.48095	0.1481	L	0.51422	1.61	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.998	P;P;D	0.63381	0.896;0.676;0.914	T	0.48433	-0.9036	10	0.72032	D	0.01	-22.8684	15.5419	0.76057	0.0:0.0:0.0:1.0	.	159;226;226	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	P	159;226	ENSP00000431423:S159P;ENSP00000347152:S226P	ENSP00000347152:S226P	S	+	1	0	ATRNL1	116879134	1.000000	0.71417	0.953000	0.39169	0.974000	0.67602	6.272000	0.72575	2.085000	0.62840	0.383000	0.25322	TCT		ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
PNLIP	5406	hgsc.bcm.edu	37	10	118313342	118313342	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:118313342G>A	ENST00000369221.2	+	6	591	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	188					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ACCATTGGACGCATCACAGGT	0.552																																																	0			10											80.0	65.0	70.0					10																	118313342		2203	4300	6503	118303332	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.563G>A	10.37:g.118313342G>A	ENSP00000358223:p.Arg188His	Somatic		Capture	Illumina HiSeq	Phase_I	118303332	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158779	0.78226	.	.	ENSG00000175535	ENST00000369221	D	0.97209	-4.29	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000010	D	0.98848	0.9611	M	0.91818	3.245	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.99387	1.0924	10	0.87932	D	0	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	188	P16233	LIPP_HUMAN	H	188	ENSP00000358223:R188H	ENSP00000358223:R188H	R	+	2	0	PNLIP	118303332	0.990000	0.36364	0.547000	0.28179	0.840000	0.47671	6.262000	0.72514	2.885000	0.99019	0.655000	0.94253	CGC		PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
FGFR2	2263	hgsc.bcm.edu	37	10	123247573	123247573	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:123247573T>C	ENST00000358487.5	-	14	2190	c.1918A>G	c.(1918-1920)Atg>Gtg	p.M640V	FGFR2_ENST00000351936.6_Missense_Mutation_p.M638V|FGFR2_ENST00000360144.3_Missense_Mutation_p.M552V|FGFR2_ENST00000457416.2_Missense_Mutation_p.M641V|FGFR2_ENST00000478859.1_Missense_Mutation_p.M412V|FGFR2_ENST00000369056.1_Missense_Mutation_p.M641V|FGFR2_ENST00000369061.4_Missense_Mutation_p.M528V|FGFR2_ENST00000356226.4_Missense_Mutation_p.M523V|FGFR2_ENST00000357555.5_Missense_Mutation_p.M551V|FGFR2_ENST00000369059.1_Missense_Mutation_p.M526V|FGFR2_ENST00000346997.2_Missense_Mutation_p.M638V|FGFR2_ENST00000369060.4_Missense_Mutation_p.M524V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GCTATTTTCATCACATTGTTT	0.373		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											181.0	181.0	181.0					10																	123247573		2203	4300	6503	123237563	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1918A>G	10.37:g.123247573T>C	ENSP00000351276:p.Met640Val	Somatic		Capture	Illumina HiSeq	Phase_I	123237563	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061194	0.76187	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.37	4.22	0.49857	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	N	0.00277	-1.72	0.80722	D	1	B;B;D;P;P;P;D;P	0.61080	0.281;0.194;0.989;0.727;0.956;0.543;0.989;0.861	B;B;D;P;P;B;P;P	0.65773	0.373;0.234;0.938;0.557;0.842;0.289;0.809;0.762	T	0.78041	-0.2359	10	0.87932	D	0	.	11.9114	0.52741	0.1307:0.0:0.0:0.8693	.	657;639;551;523;640;552;641;543	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	V	551;641;528;640;523;524;526;232;638;641;638;552;641;641;549	ENSP00000350166:M551V;ENSP00000358057:M528V;ENSP00000351276:M640V;ENSP00000348559:M523V;ENSP00000358056:M524V;ENSP00000358055:M526V;ENSP00000404219:M232V;ENSP00000263451:M638V;ENSP00000410294:M641V;ENSP00000309878:M638V;ENSP00000353262:M552V;ENSP00000358052:M641V;ENSP00000358054:M641V;ENSP00000337665:M549V	ENSP00000337665:M549V	M	-	1	0	FGFR2	123237563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.873000	0.87193	0.951000	0.37770	0.533000	0.62120	ATG		FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
ADAM12	8038	hgsc.bcm.edu	37	10	127753558	127753558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:127753558C>A	ENST00000368679.4	-	14	1744	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	ADAM12_ENST00000368676.4_Nonsense_Mutation_p.G479*|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	479	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.		G -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACGCTGTTCCTGCAGGCTTC	0.607																																																	0			10											60.0	59.0	59.0					10																	127753558		2203	4300	6503	127743548	SO:0001587	stop_gained	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1435G>T	10.37:g.127753558C>A	ENSP00000357668:p.Gly479*	Somatic		Capture	Illumina HiSeq	Phase_I	127743548	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	38	7.089505	0.98055	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0783	0.93171	0.0:1.0:0.0:0.0	.	.	.	.	X	479	.	ENSP00000357665:G479X	G	-	1	0	ADAM12	127743548	1.000000	0.71417	0.079000	0.20413	0.142000	0.21351	7.558000	0.82253	2.731000	0.93534	0.650000	0.86243	GGA		ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
ADCY2	108	hgsc.bcm.edu	37	5	7766870	7766870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:7766870C>G	ENST00000338316.4	+	17	2254	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ADCY2_ENST00000537121.1_Nonsense_Mutation_p.S542*	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	722					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCAGCCTCAAATAATCAG	0.423																																																	0			5											153.0	151.0	151.0					5																	7766870		2203	4300	6503	7819870	SO:0001587	stop_gained	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2165C>G	5.37:g.7766870C>G	ENSP00000342952:p.Ser722*	Somatic		Capture	Illumina HiSeq	Phase_I	7819870	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Nonsense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	40	8.304944	0.98752	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	.	.	.	5.46	1.61	0.23674	.	1.434830	0.04022	N	0.299916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	7.5499	0.27790	0.0:0.6018:0.0:0.3982	.	.	.	.	X	722;555;542	.	ENSP00000342952:S722X	S	+	2	0	ADCY2	7819870	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	0.018000	0.13422	0.249000	0.21456	0.655000	0.94253	TCA		ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
C5orf42	65250	hgsc.bcm.edu	37	5	37169590	37169590	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:37169590G>T	ENST00000508244.1	-	33	6629	c.6536C>A	c.(6535-6537)tCt>tAt	p.S2179Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.S2179Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.S1059Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2179						integral component of membrane (GO:0016021)		p.S1059Y(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAAGTTTTGAGATGATGGAAT	0.408																																																	1	Substitution - Missense(1)	ovary(1)	5											75.0	76.0	76.0					5																	37169590		2203	4300	6503	37205347	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6536C>A	5.37:g.37169590G>T	ENSP00000421690:p.Ser2179Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	37205347	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980334	0.74474	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.78;1.78;1.75;1.76	5.53	4.63	0.57726	.	0.528900	0.18498	N	0.139460	T	0.39462	0.1079	L	0.52573	1.65	0.09310	N	1	D;D	0.63046	0.986;0.992	P;P	0.62813	0.684;0.907	T	0.14643	-1.0465	10	0.87932	D	0	.	9.2506	0.37554	0.077:0.1459:0.7771:0.0	.	2179;1059	E9PH94;Q9H799	.;CE042_HUMAN	Y	2179;2179;1059;1227;1059	ENSP00000421690:S2179Y;ENSP00000389014:S2179Y;ENSP00000274258:S1059Y;ENSP00000424223:S1227Y	ENSP00000274258:S1059Y	S	-	2	0	C5orf42	37205347	0.034000	0.19679	0.813000	0.32504	0.193000	0.23685	1.220000	0.32491	2.587000	0.87381	0.655000	0.94253	TCT		C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
FYB	2533	hgsc.bcm.edu	37	5	39202865	39202865	+	Silent	SNP	G	G	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:39202865G>T	ENST00000351578.6	-	2	388	c.198C>A	c.(196-198)gtC>gtA	p.V66V	FYB_ENST00000515010.1_Silent_p.V66V|FYB_ENST00000505428.1_Silent_p.V66V|FYB_ENST00000540520.1_Silent_p.V76V|FYB_ENST00000512982.1_Silent_p.V66V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	66					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AAGAAGGTTTGACTGCCACAG	0.517																																																	0			5											51.0	49.0	49.0					5																	39202865		1883	4131	6014	39238622	SO:0001819	synonymous_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.198C>A	5.37:g.39202865G>T		Somatic		Capture	Illumina HiSeq	Phase_I	39238622	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																				FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
APC	324	hgsc.bcm.edu	37	5	112175136	112175136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:112175136C>A	ENST00000457016.1	+	16	4225	c.3845C>A	c.(3844-3846)tCa>tAa	p.S1282*	APC_ENST00000257430.4_Nonsense_Mutation_p.S1282*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.S1282*			P25054	APC_HUMAN	adenomatous polyposis coli	1282	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1282*(4)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTTTGTCATCAGCTGAAGAT	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	6	Substitution - Nonsense(4)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(4)|soft_tissue(1)|skin(1)	5											54.0	56.0	55.0					5																	112175136		2202	4300	6502	112203035	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3845C>A	5.37:g.112175136C>A	ENSP00000413133:p.Ser1282*	Somatic		Capture	Illumina HiSeq	Phase_I	112203035	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.061518	0.98635	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	6.03	6.03	0.97812	.	0.056000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.6145	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1282	.	.	S	+	2	0	APC	112203035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	hgsc.bcm.edu	37	5	112403879	112403879	+	Splice_Site	SNP	C	C	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:112403879C>T	ENST00000302475.4	-	11	1920	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	MCC_ENST00000515367.2_Splice_Site_p.E390K|MCC_ENST00000408903.3_Splice_Site_p.E643K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	453					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGCACTGCTCGCTGAAACAA	0.632																																																	0			5											49.0	48.0	48.0					5																	112403879		2202	4300	6502	112431778	SO:0001630	splice_region_variant	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1356-1G>A	5.37:g.112403879C>T		Somatic		Capture	Illumina HiSeq	Phase_I	112431778	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147496	0.77888	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.54479	0.57;0.57;0.57	5.1	5.1	0.69264	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	N	0.24115	0.695	0.80722	D	1	D;D;P	0.67145	0.996;0.995;0.824	D;D;B	0.71656	0.974;0.97;0.278	T	0.60398	-0.7271	10	0.37606	T	0.19	-25.3901	18.5226	0.90959	0.0:1.0:0.0:0.0	.	453;643;453	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	K	453;390;643	ENSP00000305617:E453K;ENSP00000421615:E390K;ENSP00000386227:E643K	ENSP00000305617:E453K	E	-	1	0	MCC	112431778	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.216000	0.72212	2.394000	0.81467	0.467000	0.42956	GAG		MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	Missense_Mutation
PCDHA9	9752	hgsc.bcm.edu	37	5	140230198	140230198	+	Silent	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:140230198G>A	ENST00000532602.1	+	1	3151	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A706A|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTGCGCGGTGTCTAGCC	0.667																																					Melanoma(55;1800 1972 14909)												0			5											82.0	74.0	77.0					5																	140230198		2196	4274	6470	140210382	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2118G>A	5.37:g.140230198G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140210382	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHGA1	56114	hgsc.bcm.edu	37	5	140710662	140710662	+	Silent	SNP	A	A	G			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:140710662A>G	ENST00000517417.1	+	1	411	c.411A>G	c.(409-411)gaA>gaG	p.E137E	PCDHGA1_ENST00000378105.3_Silent_p.E137E|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTAGAGGAACTGGAGTTTA	0.383																																																	0			5											94.0	105.0	102.0					5																	140710662		2202	4300	6502	140690846	SO:0001819	synonymous_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.411A>G	5.37:g.140710662A>G		Somatic		Capture	Illumina HiSeq	Phase_I	140690846	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
IRGM	345611	hgsc.bcm.edu	37	5	150228085	150228085	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:150228085G>A	ENST00000522154.1	+	2	1513	c.400G>A	c.(400-402)Gct>Act	p.A134T		NM_001145805.1	NP_001139277.1	A1A4Y4	IRGM_HUMAN	immunity-related GTPase family, M	134	IRG-type G.				autophagy (GO:0006914)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)	cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)										TGCCAAAACCGCTGAGGACAT	0.488																																																	0			5											76.0	67.0	70.0					5																	150228085		692	1591	2283	150208278	SO:0001583	missense	345611			BC038539	CCDS47313.1	5q33.1	2012-02-21	2005-03-23	2005-03-23	ENSG00000237693	ENSG00000237693			29597	protein-coding gene	gene with protein product		608212	"""immunity-related GTPase family, M1"""	IRGM1		7561525, 14576437	Standard	NM_001145805		Approved	LRG47, LRG-47, IFI1	uc010jhk.3	A1A4Y4	OTTHUMG00000163647	ENST00000522154.1:c.400G>A	5.37:g.150228085G>A	ENSP00000428220:p.Ala134Thr	Somatic		Capture	Illumina HiSeq	Phase_I	150208278	B3VEX0	Missense_Mutation	SNP	ENST00000522154.1	37	CCDS47313.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603146	0.28534	.	.	ENSG00000237693	ENST00000522154	T	0.21734	1.99	3.5	-5.83	0.02325	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	9	0.51188	T	0.08	.	0.9782	0.01430	0.3615:0.1654:0.3121:0.161	.	134	A1A4Y4	IRGM_HUMAN	T	134	ENSP00000428220:A134T	ENSP00000428220:A134T	A	+	1	0	IRGM	150208278	0.514000	0.26202	0.000000	0.03702	0.116000	0.19942	1.894000	0.39768	-1.400000	0.02061	-2.682000	0.00141	GCT		IRGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374648.1	NM_001145805	
CCNG1	900	hgsc.bcm.edu	37	5	162869134	162869134	+	Silent	SNP	T	T	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:162869134T>C	ENST00000340828.2	+	5	905	c.681T>C	c.(679-681)ctT>ctC	p.L227L	AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000393929.1_Silent_p.L227L|CCNG1_ENST00000504553.1_Silent_p.L93L|CCNG1_ENST00000511683.2_Silent_p.L93L|CCNG1_ENST00000510664.1_Silent_p.L99L|CCNG1_ENST00000512163.1_Silent_p.L93L	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	227					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TAGAATGTCTTCAGAAACATT	0.363																																																	0			5											78.0	77.0	77.0					5																	162869134		2203	4299	6502	162801712	SO:0001819	synonymous_variant	900			D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.681T>C	5.37:g.162869134T>C		Somatic		Capture	Illumina HiSeq	Phase_I	162801712	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Silent	SNP	ENST00000340828.2	37	CCDS4360.1																																																																																				CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
UBE2C	11065	hgsc.bcm.edu	37	20	44445347	44445347	+	Splice_Site	SNP	G	G	C			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:44445347G>C	ENST00000356455.4	+	6	601		c.e6-1		UBE2C_ENST00000352551.5_Splice_Site|UBE2C_ENST00000243893.6_Splice_Site|UBE2C_ENST00000335046.3_Splice_Site|UBE2C_ENST00000372568.4_Splice_Site|UBE2C_ENST00000496085.1_Splice_Site|UBE2C_ENST00000405520.1_Splice_Site	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C						activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TTCTCTTCCAGCTTTTAAGAA	0.458																																																	0			20											75.0	74.0	74.0					20																	44445347		2203	4300	6503	43878754	SO:0001630	splice_region_variant	11065			U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.482-1G>C	20.37:g.44445347G>C		Somatic		Capture	Illumina HiSeq	Phase_I	43878754	A6NP33|E1P5N7|G3XAB7	Splice_Site	SNP	ENST00000356455.4	37	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715332	0.68844	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000335046;ENST00000352551;ENST00000372568	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2C	43878754	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.382000	0.81193	0.655000	0.94253	.		UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019	Intron
GGT5	2687	hgsc.bcm.edu	37	22	24622043	24622043	+	Splice_Site	SNP	C	C	T	rs372682332		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr22:24622043C>T	ENST00000327365.4	-	8	1646		c.e8+1		GGT5_ENST00000398292.3_Splice_Site|GGT5_ENST00000263112.7_Splice_Site|GGT5_ENST00000418439.2_Splice_Site	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCCTACGCACGGTGTGTTGA	0.682																																																	0			22						C	,,	0,4406		0,0,2203	20.0	20.0	20.0		,,	3.3	1.0	22		20	1,8595		0,1,4297	no	splice-5,splice-5,splice-5	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	24622043	1,13001	2203	4298	6501	22952043	SO:0001630	splice_region_variant	2687			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1229+1G>A	22.37:g.24622043C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22952043	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Splice_Site	SNP	ENST00000327365.4	37	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044628	0.55110	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000425408;ENST00000418439	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4019	0.44235	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GGT5	22952043	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.615000	0.61190	2.175000	0.68902	0.485000	0.47835	.		GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121	Intron
HNRNPU	3192	hgsc.bcm.edu	37	1	245021006	245021008	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	ATC	ATC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:245021006_245021008delATC	ENST00000283179.9	-	8	1669_1671	c.1506_1508delGAT	c.(1504-1509)atgatt>att	p.M502del	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_In_Frame_Del_p.M483del			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	502					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGGCAAGCCAATCATCATCACAA	0.345																																					NSCLC(33;911 1010 3329 23631 49995)												0			1																																								243087631	SO:0001651	inframe_deletion	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1506_1508delGAT	1.37:g.245021012_245021014delATC	ENSP00000283179:p.Met502del	Somatic		Capture	Illumina HiSeq	Phase_I	243087629	O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	CCDS41479.1																																																																																				HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
FOXP1	27086	hgsc.bcm.edu	37	3	71101700	71101701	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	TT	TT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:71101700_71101701delTT	ENST00000318789.4	-	9	1022_1023	c.497_498delAA	c.(496-498)aaafs	p.K166fs	FOXP1_ENST00000475937.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.K168fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.K166fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	166	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTTAGGCTGTTTTCCAGCATG	0.371			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0			3																																								71184391	SO:0001589	frameshift_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.497_498delAA	3.37:g.71101702_71101703delTT	ENSP00000318902:p.Lys166fs	Somatic		Capture	Illumina HiSeq	Phase_I	71184390	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Del	DEL	ENST00000318789.4	37	CCDS2914.1																																																																																				FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs	Somatic		Capture	Illumina HiSeq	Phase_I	1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
SNX2	6643	hgsc.bcm.edu	37	5	122110863	122110864	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:122110863_122110864insGG	ENST00000379516.2	+	1	173_174	c.65_66insGG	c.(64-69)gaggacfs	p.D23fs	AC093267.1_ENST00000390825.1_RNA|SNX2_ENST00000514949.1_5'Flank	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	23					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GAGGATCTGGAGGACGGAGAGG	0.668																																																	0			5																																								122138763	SO:0001589	frameshift_variant	6643			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.66_67dupGG	5.37:g.122110864_122110865dupGG	ENSP00000368831:p.Asp23fs	Somatic		Capture	Illumina HiSeq	Phase_I	122138762	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Frame_Shift_Ins	INS	ENST00000379516.2	37	CCDS34217.1																																																																																				SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
TMEM106C	79022	hgsc.bcm.edu	37	12	48360513	48360513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:48360513delG	ENST00000429772.2	+	6	713	c.600delG	c.(598-600)gtgfs	p.V200fs	TMEM106C_ENST00000552561.1_Frame_Shift_Del_p.V200fs|TMEM106C_ENST00000256686.6_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000552546.1_Frame_Shift_Del_p.V129fs|TMEM106C_ENST00000550552.1_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000449758.2_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	200						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTCCTATGTGTAGTAAGGAC	0.488																																																	0			12											163.0	152.0	156.0					12																	48360513		2203	4300	6503	46646780	SO:0001589	frameshift_variant	79022			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.600delG	12.37:g.48360513delG	ENSP00000400471:p.Val200fs	Somatic		Capture	Illumina HiSeq	Phase_I	46646780	B2R998|B7Z5M4|Q3B761	Frame_Shift_Del	DEL	ENST00000429772.2	37	CCDS8758.1																																																																																				TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		Capture	Illumina HiSeq	Phase_I	54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ATXN3	4287	hgsc.bcm.edu	37	14	92537354	92537356	+	In_Frame_Del	DEL	CCT	CCT	-	rs12895357	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:92537354_92537356delCCT	ENST00000532032.1	-	10	923_925	c.914_916delAGG	c.(913-918)cagggg>cgg	p.305_306QG>R	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_In_Frame_Del_p.250_251QG>R|ATXN3_ENST00000503767.1_In_Frame_Del_p.290_291QG>R|ATXN3_ENST00000502250.1_In_Frame_Del_p.126_127QG>R|ATXN3_ENST00000429774.2_In_Frame_Del_p.298_299QG>R|ATXN3_ENST00000393287.5_In_Frame_Del_p.305_306QG>R|ATXN3_ENST00000545170.1_In_Frame_Del_p.314_315QG>R			P54252	ATX3_HUMAN	ataxin 3	305	Poly-Gln.		G -> QQQQQQQQQQQQR. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7874163, ECO:0000269|PubMed:9274833}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgctg	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												1	Substitution - Missense(1)	lung(1)	14																																								91607109	SO:0001651	inframe_deletion	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.914_916delAGG	14.37:g.92537354_92537356delCCT	ENSP00000437157:p.Gln305_Gly306delinsArg	Somatic		Capture	Illumina HiSeq	Phase_I	91607107	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Del	DEL	ENST00000532032.1	37																																																																																					ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	
ZNF200	7752	hgsc.bcm.edu	37	16	3274543	3274547	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	TTCTC	TTCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:3274543_3274547delTTCTC	ENST00000431561.3	-	5	1145_1149	c.533_537delGAGAA	c.(532-537)agagaafs	p.RE178fs	ZNF200_ENST00000396870.4_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000396871.4_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000575948.1_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000396868.3_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000414144.2_Frame_Shift_Del_p.RE178fs|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTGAAGACTTTTCTCTATAATCTTC	0.395																																																	0			16																																								3214548	SO:0001589	frameshift_variant	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.533_537delGAGAA	16.37:g.3274543_3274547delTTCTC	ENSP00000395723:p.Arg178fs	Somatic		Capture	Illumina HiSeq	Phase_I	3214544	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Frame_Shift_Del	DEL	ENST00000431561.3	37	CCDS10497.1																																																																																				ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1		
PIEZO1	9780	hgsc.bcm.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs11281795	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)gca>gAGCAGGca	p.1468_1469insEQ	RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693														570	0.113818	0.2126	0.0749	5008	,	,		15281	0.0635		0.1004	False		,,,				2504	0.0736																0			16								656,2422		158,340,1041						-4.8	0.0		dbSNP_120	27	690,5228		145,400,2414	no	coding	PIEZO1	NM_001142864.2		303,740,3455	A1A1,A1R,RR		11.6593,21.3125,14.9622				1346,7650				87317168	SO:0001652	inframe_insertion	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4400_4405dupAGCAGG	16.37:g.88789667_88789672dupCCTGCT	ENSP00000301015:p.Glu1467_Gln1468dup	Somatic		Capture	Illumina HiSeq	Phase_I	87317167	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Ins	INS	ENST00000301015.9	37	CCDS54058.1																																																																																				PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
UHRF1	29128	hgsc.bcm.edu	37	19	4954680	4954681	+	RNA	INS	-	-	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:4954680_4954681insT	ENST00000592666.1	+	0	2552_2553							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCGAGCAGGGCGGGTCCCCGCG	0.683																																																	0			19																																								4905681			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954680_4954681insT		Somatic		Capture	Illumina HiSeq	Phase_I	4905680	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Frame_Shift_Ins	INS	ENST00000592666.1	37																																																																																					UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
RALY	22913	hgsc.bcm.edu	37	20	32664864	32664865	+	In_Frame_Ins	INS	-	-	CAG	rs10649600|rs57852506	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:32664864_32664865insCAG	ENST00000246194.3	+	8	1191_1192	c.689_690insCAG	c.(688-693)gccggc>gcCAGcggc	p.230_231AG>ASG	RALY_ENST00000375114.3_In_Frame_Ins_p.214_215AG>ASG	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	230	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.			A -> AS (in Ref. 2; AAC28898). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGAggtggcgccggcggcggcg	0.658																																																	0			20																																								32128526	SO:0001652	inframe_insertion	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	Exception_encountered	20.37:g.32664864_32664865insCAG	ENSP00000246194:p.Ala230_Gly231insSer	Somatic		Capture	Illumina HiSeq	Phase_I	32128525	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	In_Frame_Ins	INS	ENST00000246194.3	37	CCDS13230.1																																																																																				RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0			X								12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				50367499	SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic		Capture	Illumina HiSeq	Phase_I	50367498	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
HNRNPU	3192	hgsc.bcm.edu	37	1	245021006	245021008	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	ATC	ATC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr1:245021006_245021008delATC	ENST00000283179.9	-	8	1669_1671	c.1506_1508delGAT	c.(1504-1509)atgatt>att	p.M502del	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_In_Frame_Del_p.M483del			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	502					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGGCAAGCCAATCATCATCACAA	0.345																																					NSCLC(33;911 1010 3329 23631 49995)												0			1																																								243087631	SO:0001651	inframe_deletion	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1506_1508delGAT	1.37:g.245021012_245021014delATC	ENSP00000283179:p.Met502del	Somatic		Capture	Illumina HiSeq	Phase_I	243087629	O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	CCDS41479.1																																																																																				HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
FOXP1	27086	hgsc.bcm.edu	37	3	71101700	71101701	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	TT	TT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr3:71101700_71101701delTT	ENST00000318789.4	-	9	1022_1023	c.497_498delAA	c.(496-498)aaafs	p.K166fs	FOXP1_ENST00000475937.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.K168fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.K166fs|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.K166fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	166	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTTAGGCTGTTTTCCAGCATG	0.371			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0			3																																								71184391	SO:0001589	frameshift_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.497_498delAA	3.37:g.71101702_71101703delTT	ENSP00000318902:p.Lys166fs	Somatic		Capture	Illumina HiSeq	Phase_I	71184390	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Del	DEL	ENST00000318789.4	37	CCDS2914.1																																																																																				FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs	Somatic		Capture	Illumina HiSeq	Phase_I	1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
SNX2	6643	hgsc.bcm.edu	37	5	122110863	122110864	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr5:122110863_122110864insGG	ENST00000379516.2	+	1	173_174	c.65_66insGG	c.(64-69)gaggacfs	p.D23fs	AC093267.1_ENST00000390825.1_RNA|SNX2_ENST00000514949.1_5'Flank	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	23					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GAGGATCTGGAGGACGGAGAGG	0.668																																																	0			5																																								122138763	SO:0001589	frameshift_variant	6643			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.66_67dupGG	5.37:g.122110864_122110865dupGG	ENSP00000368831:p.Asp23fs	Somatic		Capture	Illumina HiSeq	Phase_I	122138762	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Frame_Shift_Ins	INS	ENST00000379516.2	37	CCDS34217.1																																																																																				SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
TMEM106C	79022	hgsc.bcm.edu	37	12	48360513	48360513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:48360513delG	ENST00000429772.2	+	6	713	c.600delG	c.(598-600)gtgfs	p.V200fs	TMEM106C_ENST00000552561.1_Frame_Shift_Del_p.V200fs|TMEM106C_ENST00000256686.6_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000552546.1_Frame_Shift_Del_p.V129fs|TMEM106C_ENST00000550552.1_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000449758.2_Frame_Shift_Del_p.V181fs|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	200						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTCCTATGTGTAGTAAGGAC	0.488																																																	0			12											163.0	152.0	156.0					12																	48360513		2203	4300	6503	46646780	SO:0001589	frameshift_variant	79022			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.600delG	12.37:g.48360513delG	ENSP00000400471:p.Val200fs	Somatic		Capture	Illumina HiSeq	Phase_I	46646780	B2R998|B7Z5M4|Q3B761	Frame_Shift_Del	DEL	ENST00000429772.2	37	CCDS8758.1																																																																																				TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		Capture	Illumina HiSeq	Phase_I	54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ATXN3	4287	hgsc.bcm.edu	37	14	92537354	92537356	+	In_Frame_Del	DEL	CCT	CCT	-	rs12895357	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr14:92537354_92537356delCCT	ENST00000532032.1	-	10	923_925	c.914_916delAGG	c.(913-918)cagggg>cgg	p.305_306QG>R	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000340660.6_In_Frame_Del_p.250_251QG>R|ATXN3_ENST00000503767.1_In_Frame_Del_p.290_291QG>R|ATXN3_ENST00000502250.1_In_Frame_Del_p.126_127QG>R|ATXN3_ENST00000429774.2_In_Frame_Del_p.298_299QG>R|ATXN3_ENST00000393287.5_In_Frame_Del_p.305_306QG>R|ATXN3_ENST00000545170.1_In_Frame_Del_p.314_315QG>R			P54252	ATX3_HUMAN	ataxin 3	305	Poly-Gln.		G -> QQQQQQQQQQQQR. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7874163, ECO:0000269|PubMed:9274833}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgctg	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												1	Substitution - Missense(1)	lung(1)	14																																								91607109	SO:0001651	inframe_deletion	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.914_916delAGG	14.37:g.92537354_92537356delCCT	ENSP00000437157:p.Gln305_Gly306delinsArg	Somatic		Capture	Illumina HiSeq	Phase_I	91607107	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Del	DEL	ENST00000532032.1	37																																																																																					ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	
ZNF200	7752	hgsc.bcm.edu	37	16	3274543	3274547	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	TTCTC	TTCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:3274543_3274547delTTCTC	ENST00000431561.3	-	5	1145_1149	c.533_537delGAGAA	c.(532-537)agagaafs	p.RE178fs	ZNF200_ENST00000396870.4_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000396871.4_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000575948.1_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000396868.3_Frame_Shift_Del_p.RE177fs|ZNF200_ENST00000414144.2_Frame_Shift_Del_p.RE178fs|AJ003147.9_ENST00000576468.1_RNA	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTGAAGACTTTTCTCTATAATCTTC	0.395																																																	0			16																																								3214548	SO:0001589	frameshift_variant	7752			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.533_537delGAGAA	16.37:g.3274543_3274547delTTCTC	ENSP00000395723:p.Arg178fs	Somatic		Capture	Illumina HiSeq	Phase_I	3214544	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Frame_Shift_Del	DEL	ENST00000431561.3	37	CCDS10497.1																																																																																				ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1		
PIEZO1	9780	hgsc.bcm.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs11281795	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)gca>gAGCAGGca	p.1468_1469insEQ	RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693														570	0.113818	0.2126	0.0749	5008	,	,		15281	0.0635		0.1004	False		,,,				2504	0.0736																0			16								656,2422		158,340,1041						-4.8	0.0		dbSNP_120	27	690,5228		145,400,2414	no	coding	PIEZO1	NM_001142864.2		303,740,3455	A1A1,A1R,RR		11.6593,21.3125,14.9622				1346,7650				87317168	SO:0001652	inframe_insertion	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4400_4405dupAGCAGG	16.37:g.88789667_88789672dupCCTGCT	ENSP00000301015:p.Glu1467_Gln1468dup	Somatic		Capture	Illumina HiSeq	Phase_I	87317167	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Ins	INS	ENST00000301015.9	37	CCDS54058.1																																																																																				PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
UHRF1	29128	hgsc.bcm.edu	37	19	4954680	4954681	+	RNA	INS	-	-	T			TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr19:4954680_4954681insT	ENST00000592666.1	+	0	2552_2553							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCGAGCAGGGCGGGTCCCCGCG	0.683																																																	0			19																																								4905681			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954680_4954681insT		Somatic		Capture	Illumina HiSeq	Phase_I	4905680	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Frame_Shift_Ins	INS	ENST00000592666.1	37																																																																																					UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
RALY	22913	hgsc.bcm.edu	37	20	32664864	32664865	+	In_Frame_Ins	INS	-	-	CAG	rs10649600|rs57852506	byFrequency	TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr20:32664864_32664865insCAG	ENST00000246194.3	+	8	1191_1192	c.689_690insCAG	c.(688-693)gccggc>gcCAGcggc	p.230_231AG>ASG	RALY_ENST00000375114.3_In_Frame_Ins_p.214_215AG>ASG	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	230	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.			A -> AS (in Ref. 2; AAC28898). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGAggtggcgccggcggcggcg	0.658																																																	0			20																																								32128526	SO:0001652	inframe_insertion	22913			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	Exception_encountered	20.37:g.32664864_32664865insCAG	ENSP00000246194:p.Ala230_Gly231insSer	Somatic		Capture	Illumina HiSeq	Phase_I	32128525	Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	In_Frame_Ins	INS	ENST00000246194.3	37	CCDS13230.1																																																																																				RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1		
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-EI-6506-01A-11D-1733-10	TCGA-EI-6506-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8ed5279-0909-4495-854d-e5230bba7006	fae20a20-3163-4c5f-b5e7-e3feb9e03945	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0			X								12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				50367499	SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic		Capture	Illumina HiSeq	Phase_I	50367498	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
