#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_ORegAnno_bin	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_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ETV1	2115	hgsc.bcm.edu	37	7	13971264	13971264	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:13971264A>G	ENST00000430479.1	-	9	1332	c.665T>C	c.(664-666)tTc>tCc	p.F222S	ETV1_ENST00000242066.5_Missense_Mutation_p.F204S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.F119S|ETV1_ENST00000403527.1_Missense_Mutation_p.F182S|ETV1_ENST00000403685.1_Missense_Mutation_p.F204S|ETV1_ENST00000343495.5_Missense_Mutation_p.F204S|ETV1_ENST00000405192.2_Missense_Mutation_p.F222S|ETV1_ENST00000405218.2_Missense_Mutation_p.F222S|ETV1_ENST00000420159.2_Missense_Mutation_p.F164S|ETV1_ENST00000405358.4_Missense_Mutation_p.F236S	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	222					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGTGGTGGGAAGGGGATGTT	0.542			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	0			7											140.0	138.0	138.0					7																	13971264		2018	4191	6209	13937789	SO:0001583	missense	2115				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.665T>C	7.37:g.13971264A>G	ENSP00000405327:p.Phe222Ser		13937789	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745711	0.89663	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.56769	1.78	0.80722	D	1	D;B;P;P;D;D;B;B	0.76494	0.999;0.059;0.891;0.867;0.993;0.994;0.026;0.015	D;B;P;P;D;D;B;B	0.83275	0.958;0.039;0.492;0.544;0.996;0.989;0.029;0.026	T	0.08932	-1.0698	10	0.30078	T	0.28	.	16.7898	0.85586	1.0:0.0:0.0:0.0	.	233;204;236;164;119;182;164;222	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	S	222;204;204;164;119;222;236;182;222;204;164;119	ENSP00000405327:F222S;ENSP00000242066:F204S;ENSP00000340853:F204S;ENSP00000411626:F164S;ENSP00000382293:F119S;ENSP00000385381:F222S;ENSP00000384085:F236S;ENSP00000384138:F182S;ENSP00000385551:F222S;ENSP00000385686:F204S;ENSP00000393078:F164S;ENSP00000394710:F119S	ENSP00000242066:F204S	F	-	2	0	ETV1	13937789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.725000	0.91468	2.364000	0.80123	0.524000	0.50904	TTC		0.542	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
TAX1BP1	8887	hgsc.bcm.edu	37	7	27832791	27832791	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:27832791A>G	ENST00000396319.2	+	10	1458	c.1370A>G	c.(1369-1371)cAa>cGa	p.Q457R	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.Q457R|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.Q457R|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.Q300R|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.Q457R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	457			Q -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.Q457R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAGGAATGCCAAAGGCTCCAA	0.323																																																	1	Substitution - Missense(1)	breast(1)	7											37.0	38.0	37.0					7																	27832791		2203	4300	6503	27799316	SO:0001583	missense	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1370A>G	7.37:g.27832791A>G	ENSP00000379612:p.Gln457Arg		27799316	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277984	0.80692	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	5.9	5.9	0.94986	.	0.000000	0.50627	D	0.000109	T	0.29158	0.0725	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.99	T	0.01283	-1.1396	10	0.24483	T	0.36	-11.514	16.3291	0.83001	1.0:0.0:0.0:0.0	.	300;457;457	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	R	457;457;457;300;457;12	ENSP00000444811:Q457R;ENSP00000265393:Q457R;ENSP00000386515:Q457R;ENSP00000391907:Q300R;ENSP00000379612:Q457R	ENSP00000265393:Q457R	Q	+	2	0	TAX1BP1	27799316	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.770000	0.91746	2.257000	0.74773	0.528000	0.53228	CAA		0.323	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
WBSCR17	64409	hgsc.bcm.edu	37	7	70885988	70885988	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:70885988C>T	ENST00000333538.5	+	5	1493	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	287					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGGTGCAGCGGTACGAGAA	0.577																																																	0			7											149.0	137.0	141.0					7																	70885988		2203	4300	6503	70523924	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.859C>T	7.37:g.70885988C>T	ENSP00000329654:p.Arg287Trp		70523924	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469957	0.84533	.	.	ENSG00000185274	ENST00000333538	T	0.64438	-0.1	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75391	-0.3334	10	0.87932	D	0	.	13.0276	0.58825	0.1609:0.8391:0.0:0.0	.	287	Q6IS24	GLTL3_HUMAN	W	287	ENSP00000329654:R287W	ENSP00000329654:R287W	R	+	1	2	WBSCR17	70523924	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.621000	0.67743	2.490000	0.84030	0.557000	0.71058	CGG		0.577	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
PHTF2	57157	hgsc.bcm.edu	37	7	77538204	77538204	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:77538204A>G	ENST00000248550.7	+	7	616	c.540A>G	c.(538-540)ggA>ggG	p.G180G	PHTF2_ENST00000307305.8_Silent_p.G142G|PHTF2_ENST00000415251.2_Silent_p.G142G|PHTF2_ENST00000450574.1_Silent_p.G146G|PHTF2_ENST00000275575.7_Silent_p.G142G|PHTF2_ENST00000422959.2_Silent_p.G146G|PHTF2_ENST00000416283.2_Silent_p.G146G|PHTF2_ENST00000424760.1_Silent_p.G142G|PHTF2_ENST00000454592.1_3'UTR			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGCTCCTGGGAACTGTGCATT	0.433																																																	0			7											88.0	86.0	86.0					7																	77538204		1941	4146	6087	77376140	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.540A>G	7.37:g.77538204A>G			77376140	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	37																																																																																					0.433	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
HGF	3082	hgsc.bcm.edu	37	7	81334975	81334975	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:81334975C>T	ENST00000222390.5	-	16	2078	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	HGF_ENST00000457544.2_Missense_Mutation_p.G613S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	618	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAGTGTAGCCCCAGCCATAA	0.353																																																	0			7											92.0	84.0	87.0					7																	81334975		2203	4300	6503	81172911	SO:0001583	missense	6654				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1852G>A	7.37:g.81334975C>T	ENSP00000222390:p.Gly618Ser		81172911	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608225	0.87258	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.93953	-3.32;-3.32	4.74	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99038	1.0823	10	0.72032	D	0.01	.	17.0863	0.86611	0.0:1.0:0.0:0.0	.	613;618	P14210-3;P14210	.;HGF_HUMAN	S	618;613	ENSP00000222390:G618S;ENSP00000391238:G613S	ENSP00000222390:G618S	G	-	1	0	HGF	81172911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.782000	0.68973	2.331000	0.79229	0.585000	0.79938	GGC		0.353	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
PCLO	27445	hgsc.bcm.edu	37	7	82578912	82578912	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:82578912A>G	ENST00000333891.9	-	6	11329	c.10992T>C	c.(10990-10992)gtT>gtC	p.V3664V	PCLO_ENST00000423517.2_Silent_p.V3664V|PCLO_ENST00000437081.1_Silent_p.V384V	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						TTGCTGGGGGAACTTTAGCCA	0.483																																																	0			7											199.0	193.0	195.0					7																	82578912		1921	4143	6064	82416848	SO:0001819	synonymous_variant	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.10992T>C	7.37:g.82578912A>G			82416848		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TSC22D4	81628	hgsc.bcm.edu	37	7	100064784	100064784	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:100064784A>G	ENST00000300181.2	-	5	1740	c.986T>C	c.(985-987)gTg>gCg	p.V329A	C7orf61_ENST00000332375.3_5'Flank|TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Missense_Mutation_p.V90A	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	329			V -> M (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V329del(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGGACTTCACCAAGTCCTG	0.657																																																	1	Deletion - In frame(1)	breast(1)	7											38.0	41.0	40.0					7																	100064784		2203	4300	6503	99902720	SO:0001583	missense	81628			BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.986T>C	7.37:g.100064784A>G	ENSP00000300181:p.Val329Ala		99902720	A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	CCDS5695.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.41|12.41	1.931094|1.931094	0.34096|0.34096	.|.	.|.	ENSG00000166925|ENSG00000166925	ENST00000300181;ENST00000393991|ENST00000423266	.|.	.|.	.|.	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	0.212946|.	0.24134|.	N|.	0.041232|.	T|.	0.77718|.	0.4172|.	M|M	0.88241|0.88241	2.94|2.94	0.45541|0.45541	D|D	0.998497|0.998497	D|.	0.69078|.	0.997|.	D|.	0.79108|.	0.992|.	T|.	0.81046|.	-0.1110|.	9|.	0.87932|.	D|.	0|.	-15.7728|-15.7728	11.2055|11.2055	0.48767|0.48767	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	329|.	Q9Y3Q8|.	T22D4_HUMAN|.	A|R	329;90|145	.|.	ENSP00000300181:V329A|.	V|X	-|-	2|1	0|0	TSC22D4|TSC22D4	99902720|99902720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	8.779000|8.779000	0.91792|0.91792	1.732000|1.732000	0.51606|0.51606	0.482000|0.482000	0.46254|0.46254	GTG|TGA		0.657	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935	
MET	4233	hgsc.bcm.edu	37	7	116339625	116339625	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:116339625T>C	ENST00000318493.6	+	2	674	c.487T>C	c.(487-489)Tcc>Ccc	p.S163P	MET_ENST00000436117.2_Missense_Mutation_p.S163P|MET_ENST00000397752.3_Missense_Mutation_p.S163P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGCATATTCTCCCCACAGAT	0.522			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			7											113.0	113.0	113.0					7																	116339625		2010	4175	6185	116126861	SO:0001583	missense	8731	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.487T>C	7.37:g.116339625T>C	ENSP00000317272:p.Ser163Pro		116126861	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273435	0.40194	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.76	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.228945	0.46145	D	0.000319	T	0.27900	0.0687	M	0.87900	2.915	0.80722	D	1	D;P;D;P;P;P;D;P;P;P;P;P;P	0.63880	0.984;0.94;0.993;0.94;0.94;0.94;0.966;0.94;0.947;0.927;0.94;0.953;0.953	P;D;D;P;D;D;D;D;P;P;P;P;P	0.72075	0.825;0.919;0.976;0.901;0.919;0.919;0.919;0.919;0.865;0.697;0.873;0.85;0.85	T	0.03993	-1.0986	10	0.66056	D	0.02	.	12.3811	0.55307	0.1263:0.0:0.0:0.8737	.	163;163;163;163;163;163;163;163;163;163;163;163;163	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	P	182;182;163;163;163	ENSP00000413857:S182P;ENSP00000380860:S163P;ENSP00000317272:S163P;ENSP00000410980:S163P	ENSP00000317272:S163P	S	+	1	0	MET	116126861	1.000000	0.71417	0.995000	0.50966	0.547000	0.35210	5.445000	0.66594	1.066000	0.40716	0.533000	0.62120	TCC		0.522	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
KIAA1549	57670	hgsc.bcm.edu	37	7	138604032	138604032	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:138604032A>G	ENST00000422774.1	-	2	388	c.340T>C	c.(340-342)Tct>Cct	p.S114P	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S64P|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S114P			Q9HCM3	K1549_HUMAN	KIAA1549	114						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAGTGGCAGACGGCGGGGCT	0.522			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0			7											112.0	111.0	111.0					7																	138604032		1967	4173	6140	138254572	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.340T>C	7.37:g.138604032A>G	ENSP00000416040:p.Ser114Pro		138254572	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	5.541	0.284707	0.10513	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.32515	1.45;1.45;1.45	4.66	0.587	0.17439	.	0.531595	0.15874	N	0.240384	T	0.18467	0.0443	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.002;0.004	T	0.16600	-1.0397	10	0.54805	T	0.06	.	4.5502	0.12108	0.4355:0.3532:0.2113:0.0	.	114;114	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	114;64;114	ENSP00000406661:S114P;ENSP00000242365:S64P;ENSP00000416040:S114P	ENSP00000242365:S64P	S	-	1	0	KIAA1549	138254572	0.017000	0.18338	0.002000	0.10522	0.063000	0.16089	-0.352000	0.07701	-0.019000	0.14055	0.459000	0.35465	TCT		0.522	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
GIMAP8	155038	hgsc.bcm.edu	37	7	150174492	150174492	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:150174492A>G	ENST00000307271.3	+	5	2196	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	541	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACTGAAGAGGACAAAACAGCT	0.512																																																	0			7											79.0	76.0	77.0					7																	150174492		2203	4300	6503	149805425	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1622A>G	7.37:g.150174492A>G	ENSP00000305107:p.Asp541Gly		149805425		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032996	0.75504	.	.	ENSG00000171115	ENST00000307271	T	0.10288	2.89	4.44	4.44	0.53790	AIG1 (1);	0.154035	0.29799	N	0.011174	T	0.35941	0.0949	M	0.89353	3.025	0.41576	D	0.988711	D	0.89917	1.0	D	0.78314	0.991	T	0.31779	-0.9931	10	0.72032	D	0.01	.	10.012	0.41992	1.0:0.0:0.0:0.0	.	541	Q8ND71	GIMA8_HUMAN	G	541	ENSP00000305107:D541G	ENSP00000305107:D541G	D	+	2	0	GIMAP8	149805425	1.000000	0.71417	0.047000	0.18901	0.044000	0.14063	6.727000	0.74764	1.881000	0.54492	0.533000	0.62120	GAC		0.512	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
PAK7	57144	hgsc.bcm.edu	37	20	9520157	9520157	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:9520157A>G	ENST00000378429.3	-	11	2658	c.2112T>C	c.(2110-2112)ggT>ggC	p.G704G	PAK7_ENST00000378423.1_Silent_p.G704G|PAK7_ENST00000353224.5_Silent_p.G704G	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	704			G -> S (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGACGGTGGACCTGCTAGTT	0.512																																																	0			20											242.0	220.0	227.0					20																	9520157		2203	4300	6503	9468157	SO:0001819	synonymous_variant	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2112T>C	20.37:g.9520157A>G			9468157	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																				0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
CD93	22918	hgsc.bcm.edu	37	20	23066686	23066686	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:23066686C>T	ENST00000246006.4	-	1	291	c.144G>A	c.(142-144)gaG>gaA	p.E48E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	48	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTTCTGGGCCTCGGCAGCGC	0.697																																																	0			20											33.0	28.0	29.0					20																	23066686		2203	4299	6502	23014686	SO:0001819	synonymous_variant	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.144G>A	20.37:g.23066686C>T			23014686	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																				0.697	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
NINL	22981	hgsc.bcm.edu	37	20	25456790	25456790	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:25456790T>C	ENST00000278886.6	-	17	3210	c.3137A>G	c.(3136-3138)gAg>gGg	p.E1046G	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1046					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TATTTTGGTCTCCCCCTCTTC	0.562																																																	0			20											97.0	89.0	92.0					20																	25456790		2203	4300	6503	25404790	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3137A>G	20.37:g.25456790T>C	ENSP00000278886:p.Glu1046Gly		25404790	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638240	0.47153	.	.	ENSG00000101004	ENST00000278886	T	0.05382	3.45	4.58	3.46	0.39613	.	2.778030	0.01856	N	0.036254	T	0.06005	0.0156	N	0.24115	0.695	0.19575	N	0.999966	B	0.29162	0.235	B	0.23018	0.043	T	0.35871	-0.9771	10	0.34782	T	0.22	-1.9895	7.0151	0.24883	0.0:0.1067:0.0:0.8933	.	1046	Q9Y2I6	NINL_HUMAN	G	1046	ENSP00000278886:E1046G	ENSP00000278886:E1046G	E	-	2	0	NINL	25404790	0.665000	0.27466	0.005000	0.12908	0.003000	0.03518	1.980000	0.40618	0.604000	0.29930	0.459000	0.35465	GAG		0.562	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
NINL	22981	hgsc.bcm.edu	37	20	25457588	25457588	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:25457588T>C	ENST00000278886.6	-	17	2412	c.2339A>G	c.(2338-2340)gAg>gGg	p.E780G	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	780					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTCTCCAGCTCCAGCTGCTC	0.697																																																	0			20											31.0	27.0	28.0					20																	25457588		2203	4300	6503	25405588	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2339A>G	20.37:g.25457588T>C	ENSP00000278886:p.Glu780Gly		25405588	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	5.842	0.339565	0.11069	.	.	ENSG00000101004	ENST00000278886	T	0.28069	1.63	3.07	1.95	0.26073	.	17.581000	0.00166	N	0.000000	T	0.19248	0.0462	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14727	-1.0462	10	0.23891	T	0.37	-2.3897	4.8558	0.13559	0.0:0.1492:0.0:0.8508	.	780	Q9Y2I6	NINL_HUMAN	G	780	ENSP00000278886:E780G	ENSP00000278886:E780G	E	-	2	0	NINL	25405588	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.062000	0.11674	0.414000	0.25790	0.379000	0.24179	GAG		0.697	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
ASXL1	171023	hgsc.bcm.edu	37	20	31022343	31022343	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:31022343G>A	ENST00000375687.4	+	13	2252	c.1828G>A	c.(1828-1830)Ggc>Agc	p.G610S	ASXL1_ENST00000306058.5_Missense_Mutation_p.G605S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGTTGGACTGGCGCCAGGAC	0.622			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	20											29.0	32.0	31.0					20																	31022343		2203	4300	6503	30486004	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1828G>A	20.37:g.31022343G>A	ENSP00000364839:p.Gly610Ser		30486004	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935515	0.52866	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.56776	0.44;0.44	5.41	2.44	0.29823	.	0.157000	0.56097	N	0.000023	T	0.41719	0.1171	M	0.65975	2.015	0.44181	D	0.996992	P;P	0.46220	0.874;0.794	B;B	0.35114	0.163;0.196	T	0.25950	-1.0117	10	0.42905	T	0.14	-8.2302	6.3002	0.21109	0.2138:0.1326:0.6535:0.0	.	605;610	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	610;610;610;549;605	ENSP00000364839:G610S;ENSP00000305119:G605S	ENSP00000305119:G605S	G	+	1	0	ASXL1	30486004	1.000000	0.71417	0.692000	0.30179	0.952000	0.60782	4.072000	0.57563	0.421000	0.25980	0.561000	0.74099	GGC		0.622	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
SNTA1	6640	hgsc.bcm.edu	37	20	32026745	32026745	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:32026745T>C	ENST00000217381.2	-	2	669	c.398A>G	c.(397-399)gAt>gGt	p.D133G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	133	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGGATGGCATCCCCCACAAA	0.552																																																	0			20											144.0	135.0	138.0					20																	32026745		2203	4300	6503	31490406	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.398A>G	20.37:g.32026745T>C	ENSP00000217381:p.Asp133Gly		31490406	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303050	0.81136	.	.	ENSG00000101400	ENST00000217381	T	0.74106	-0.81	5.03	5.03	0.67393	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	D	0.95094	0.8224	10	0.87932	D	0	-13.1829	14.6168	0.68556	0.0:0.0:0.0:1.0	.	133;133	B4DX40;Q13424	.;SNTA1_HUMAN	G	133	ENSP00000217381:D133G	ENSP00000217381:D133G	D	-	2	0	SNTA1	31490406	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.512000	0.81728	2.114000	0.64651	0.459000	0.35465	GAT		0.552	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	
TUBB1	81027	hgsc.bcm.edu	37	20	57599243	57599243	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:57599243C>T	ENST00000217133.1	+	4	1030	c.761C>T	c.(760-762)gCg>gTg	p.A254V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	254					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGCAAGCTGGCGGTGAACATG	0.637																																																	0			20											76.0	66.0	70.0					20																	57599243		2203	4300	6503	57032638	SO:0001583	missense	203068			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.761C>T	20.37:g.57599243C>T	ENSP00000217133:p.Ala254Val		57032638		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364845	0.95877	.	.	ENSG00000101162	ENST00000217133	D	0.83914	-1.78	5.19	5.19	0.71726	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91907	0.5536	10	0.87932	D	0	.	17.6651	0.88201	0.0:1.0:0.0:0.0	.	254	Q9H4B7	TBB1_HUMAN	V	254	ENSP00000217133:A254V	ENSP00000217133:A254V	A	+	2	0	TUBB1	57032638	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.818000	0.86416	2.431000	0.82371	0.561000	0.74099	GCG		0.637	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773	
MTG2	26164	hgsc.bcm.edu	37	20	60775780	60775780	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:60775780A>G	ENST00000370823.3	+	7	886	c.868A>G	c.(868-870)Agg>Ggg	p.R290G	MTG2_ENST00000436421.2_Missense_Mutation_p.R132G|MTG2_ENST00000536470.1_Missense_Mutation_p.R62G	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	290	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CCACCAGAACAGGGGTCTGGG	0.622																																																	0			20											81.0	89.0	86.0					20																	60775780		2203	4300	6503	60209175	SO:0001583	missense	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.868A>G	20.37:g.60775780A>G	ENSP00000359859:p.Arg290Gly		60209175	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092043	0.76756	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.18810	2.19;2.19;2.19	5.67	-5.71	0.02413	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.101891	0.64402	D	0.000007	T	0.52419	0.1733	H	0.94925	3.6	0.41307	D	0.987089	D;P	0.55385	0.971;0.607	D;P	0.64506	0.926;0.579	T	0.73547	-0.3948	10	0.62326	D	0.03	-28.0314	20.5547	0.99287	0.5786:0.4214:0.0:0.0	.	132;290	E7EU10;Q9H4K7	.;GTPB5_HUMAN	G	62;132;290	ENSP00000445056:R62G;ENSP00000392267:R132G;ENSP00000359859:R290G	ENSP00000359859:R290G	R	+	1	2	GTPBP5	60209175	0.907000	0.30839	0.405000	0.26409	0.704000	0.40688	0.089000	0.15002	-0.746000	0.04766	-0.396000	0.06452	AGG		0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666	
COL20A1	57642	hgsc.bcm.edu	37	20	61957492	61957493	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:61957492_61957493TG>CT	ENST00000358894.6	+	30	3547_3548	c.3447_3448TG>CT	c.(3445-3450)ccTGgc>ccCTgc	p.G1150C	COL20A1_ENST00000422202.1_Missense_Mutation_p.G1157C|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1182C|COL20A1_ENST00000435874.1_Missense_Mutation_p.G1157C	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1150	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGGACCCCCTGGCCCCAGGGT	0.658																																																	0			20																																								61427936|61427937	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	Exception_encountered	20.37:g.61957492_61957493delinsCT	ENSP00000351767:p.Gly1150Cys		61427936|61427937	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation|Silent	SNP	ENST00000358894.6	37	CCDS46628.1																																																																																				0.658	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
KCNQ2	3785	hgsc.bcm.edu	37	20	62039789	62039789	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:62039789G>A	ENST00000359125.2	-	16	2038	c.1864C>T	c.(1864-1866)Cgg>Tgg	p.R622W	KCNQ2_ENST00000354587.3_Missense_Mutation_p.R630W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R630W|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R591W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R594W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R604W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R622W	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	622					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTCCCGAGCCGTCCCATCATG	0.706																																																	0			20											30.0	24.0	26.0					20																	62039789		2189	4289	6478	61510233	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1864C>T	20.37:g.62039789G>A	ENSP00000352035:p.Arg622Trp		61510233	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372308	0.82573	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99885	-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51	4.87	2.74	0.32292	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.065173	0.64402	D	0.000016	D	0.99864	0.9936	M	0.86502	2.82	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.70716	0.949;0.931;0.949;0.97	D	0.96612	0.9453	10	0.87932	D	0	-28.7771	12.5655	0.56308	0.0:0.0:0.5796:0.4204	.	594;604;591;622	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	W	604;622;592;630;622;591;594;618;630	ENSP00000349789:R604W;ENSP00000352035:R622W;ENSP00000359246:R592W;ENSP00000346601:R630W;ENSP00000352718:R622W;ENSP00000399612:R591W;ENSP00000353668:R594W;ENSP00000339611:R618W;ENSP00000359244:R630W	ENSP00000339611:R618W	R	-	1	2	KCNQ2	61510233	0.998000	0.40836	0.948000	0.38648	0.863000	0.49368	2.533000	0.45667	1.027000	0.39758	0.491000	0.48974	CGG		0.706	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
MMP11	4320	hgsc.bcm.edu	37	22	24121515	24121515	+	Missense_Mutation	SNP	G	G	A	rs376901794		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:24121515G>A	ENST00000215743.3	+	2	302	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	84					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGGCGTGCCCGACCCATCTGA	0.697																																																	0			22						G	ASN/ASP	0,4406		0,0,2203	19.0	21.0	20.0		250	2.0	1.0	22		20	1,8599		0,1,4299	no	missense	MMP11	NM_005940.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/489	24121515	1,13005	2203	4300	6503	22451515	SO:0001583	missense	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.250G>A	22.37:g.24121515G>A	ENSP00000215743:p.Asp84Asn		22451515	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822964	0.50739	0.0	1.16E-4	ENSG00000099953	ENST00000215743	T	0.16324	2.35	4.18	2.04	0.26737	Metallopeptidase, catalytic domain (1);	0.101382	0.64402	D	0.000004	T	0.23611	0.0571	L	0.32530	0.975	0.45354	D	0.998344	D	0.76494	0.999	D	0.63033	0.91	T	0.01874	-1.1256	10	0.87932	D	0	.	8.4586	0.32915	0.0872:0.0:0.7558:0.157	.	84	P24347	MMP11_HUMAN	N	84	ENSP00000215743:D84N	ENSP00000215743:D84N	D	+	1	0	MMP11	22451515	1.000000	0.71417	0.993000	0.49108	0.086000	0.17979	4.060000	0.57477	1.080000	0.41073	0.549000	0.68633	GAC		0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	
NF2	4771	hgsc.bcm.edu	37	22	30035170	30035170	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:30035170A>G	ENST00000338641.4	+	3	773	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	NF2_ENST00000353887.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.Q111R|NF2_ENST00000403999.3_Missense_Mutation_p.Q111R|NF2_ENST00000361676.4_Missense_Mutation_p.Q69R|NF2_ENST00000403435.1_Missense_Mutation_p.Q111R|NF2_ENST00000361452.4_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.Q111R|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.Q111R|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)	111	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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.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						GAGCTGGTTCAGGAGATCACA	0.458			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(3)|Deletion - Frameshift(2)	soft_tissue(2)|stomach(1)|large_intestine(1)|lung(1)	22											137.0	120.0	126.0					22																	30035170		2203	4300	6503	28365170	SO:0001583	missense	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.332A>G	22.37:g.30035170A>G	ENSP00000344666:p.Gln111Arg		28365170	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	33	5.249779	0.95305	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;D;D;D;D;D;D	0.83506	-1.18;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.03	6.03	0.97812	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.054166	0.85682	D	0.000000	D	0.93019	0.7778	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;0.999;0.998;1.0	D	0.94160	0.7413	9	.	.	.	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	111;111;111;69;111	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	R	111;111;111;111;111;111;69;111	ENSP00000409921:Q111R;ENSP00000344666:Q111R;ENSP00000384029:Q111R;ENSP00000384797:Q111R;ENSP00000380891:Q111R;ENSP00000355183:Q69R;ENSP00000354529:Q111R	.	Q	+	2	0	NF2	28365170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.228000	0.95250	2.302000	0.77476	0.533000	0.62120	CAG		0.458	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
RNF215	200312	hgsc.bcm.edu	37	22	30781916	30781916	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:30781916G>A	ENST00000382363.3	-	4	638	c.564C>T	c.(562-564)acC>acT	p.T188T		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	188						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.T188T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAACAGCTTGGTGACATTGG	0.557																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	22											172.0	157.0	162.0					22																	30781916		2203	4300	6503	29111916	SO:0001819	synonymous_variant	200312				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.564C>T	22.37:g.30781916G>A			29111916	A6NEL1	Silent	SNP	ENST00000382363.3	37	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174003	0.21704	.	.	ENSG00000099999	ENST00000215798	.	.	.	4.87	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.3352	10.3648	0.44017	0.1904:0.0:0.8096:0.0	.	.	.	.	X	126	.	.	Q	-	1	0	RNF215	29111916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.564000	0.45931	1.030000	0.39839	0.650000	0.86243	CAA		0.557	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981	
RBFOX2	23543	hgsc.bcm.edu	37	22	36156005	36156005	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:36156005T>C	ENST00000438146.2	-	10	1038	c.1039A>G	c.(1039-1041)Agg>Ggg	p.R347G	RBFOX2_ENST00000416721.2_Missense_Mutation_p.R272G|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R253G|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R252G|RBFOX2_ENST00000405409.2_Missense_Mutation_p.R273G|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R276G|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R254G|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R276G	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	286	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						CCTCTGCCCCTCAAATGGGCT	0.522																																																	0			22											73.0	72.0	72.0					22																	36156005		2203	4300	6503	34485951	SO:0001583	missense	0			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.1039A>G	22.37:g.36156005T>C	ENSP00000413035:p.Arg347Gly		34485951	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154077	0.57259	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146	T;T;T;T;T;T;T	0.58210	1.2;0.92;0.42;0.77;1.12;0.77;0.35	5.48	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.70275	2.135	0.50467	D	0.999876	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.996;1.0;0.989;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.99;0.996;0.985;0.99;0.999;0.999;0.999;0.999	T	0.71646	-0.4530	10	0.87932	D	0	.	11.8334	0.52309	0.0:0.0:0.2771:0.7229	.	252;346;347;254;272;273;276;276;253	B0QYY4;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;.;.;.;.;.;.;.;.	G	273;282;276;276;254;253;252;272;347	ENSP00000384944:R273G;ENSP00000407855:R276G;ENSP00000391670:R276G;ENSP00000380470:R253G;ENSP00000352328:R252G;ENSP00000405651:R272G;ENSP00000413035:R347G	ENSP00000262829:R254G	R	-	1	2	RBFOX2	34485951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.932000	0.40143	0.871000	0.35750	0.460000	0.39030	AGG		0.522	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3		
TUBGCP6	85378	hgsc.bcm.edu	37	22	50655236	50655236	+	IGR	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:50655236A>G	ENST00000248846.5	-	0	5612				SELO_ENST00000492092.1_3'UTR|SELO_ENST00000380903.2_Missense_Mutation_p.E540G|TUBGCP6_ENST00000491449.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCGGCTGGAGCAGCTGAGT	0.667																																																	0			22											21.0	30.0	27.0					22																	50655236		2182	4286	6468	48997363	SO:0001628	intergenic_variant	83642			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655236A>G			48997363	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257395	0.39896	.	.	ENSG00000073169	ENST00000380903	T	0.18657	2.2	4.88	4.88	0.63580	.	0.212580	0.45126	D	0.000397	T	0.19604	0.0471	L	0.41356	1.27	0.40315	D	0.978768	B;B	0.30068	0.01;0.267	B;B	0.31101	0.014;0.124	T	0.04811	-1.0925	10	0.32370	T	0.25	.	14.7574	0.69576	1.0:0.0:0.0:0.0	.	540;383	Q9BVL4;Q6ICA4	SELO_HUMAN;.	G	540	ENSP00000370288:E540G	ENSP00000370288:E540G	E	+	2	0	RP3-402G11.5	48997363	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	8.332000	0.90024	1.945000	0.56424	0.402000	0.26972	GAG		0.667	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
SBF1	6305	hgsc.bcm.edu	37	22	50893974	50893974	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr22:50893974T>C	ENST00000390679.3	-	31	4410	c.4226A>G	c.(4225-4227)gAg>gGg	p.E1409G	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.E1410G|SBF1_ENST00000380817.3_Missense_Mutation_p.E1435G			O95248	MTMR5_HUMAN	SET binding factor 1	1409	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCAGGAGCTCCACCACCAG	0.692																																																	0			22											19.0	27.0	24.0					22																	50893974		2148	4252	6400	49240840	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4226A>G	22.37:g.50893974T>C	ENSP00000375097:p.Glu1409Gly		49240840	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.017845	0.75161	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.90444	-2.67;-2.67;-2.67	4.4	3.37	0.38596	Myotubularin phosphatase domain (1);	0.173570	0.49916	D	0.000134	D	0.92522	0.7625	L	0.49126	1.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.986	D	0.91544	0.5252	10	0.72032	D	0.01	.	9.3143	0.37924	0.0:0.0865:0.0:0.9135	.	1409;1435	O95248;O95248-4	MTMR5_HUMAN;.	G	1435;1410;1445;1409	ENSP00000370196:E1435G;ENSP00000252027:E1410G;ENSP00000375097:E1409G	ENSP00000336522:E1445G	E	-	2	0	SBF1	49240840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.792000	0.69052	0.741000	0.32674	0.533000	0.62120	GAG		0.692	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
TGM1	7051	hgsc.bcm.edu	37	14	24724656	24724656	+	Missense_Mutation	SNP	T	T	C	rs142404759	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:24724656T>C	ENST00000206765.6	-	11	1682	c.1559A>G	c.(1558-1560)gAg>gGg	p.E520G	TGM1_ENST00000544573.1_Missense_Mutation_p.E78G	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	520			E -> G (in ARCI1; dbSNP:rs142404759).		cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GATGGCCTTCTCCTCCACATA	0.537													T|||	8	0.00159744	0.0	0.0	5008	,	,		21003	0.0		0.008	False		,,,				2504	0.0																0			14	GRCh37	CM012197	TGM1	M	rs142404759	T	GLY/GLU	12,4394	19.1+/-41.9	0,12,2191	133.0	106.0	115.0		1559	5.4	1.0	14	dbSNP_134	115	67,8533	38.8+/-94.9	1,65,4234	yes	missense	TGM1	NM_000359.2	98	1,77,6425	CC,CT,TT		0.7791,0.2724,0.6074	probably-damaging	520/818	24724656	79,12927	2203	4300	6503	23794496	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1559A>G	14.37:g.24724656T>C	ENSP00000206765:p.Glu520Gly		23794496	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	7	0.003205128205128205	0	0.0	1	0.0027624309392265192	0	0.0	6	0.0079155672823219	T	20.1	3.936211	0.73442	0.002724	0.007791	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.73897	-0.79;-0.79	5.42	5.42	0.78866	.	0.048871	0.85682	D	0.000000	T	0.58652	0.2137	L	0.33485	1.01	0.35147	D	0.76944	P	0.52842	0.956	B	0.44224	0.444	T	0.72194	-0.4364	10	0.34782	T	0.22	-34.6757	13.4085	0.60929	0.0:0.0:0.0:1.0	.	520	P22735	TGM1_HUMAN	G	520;78	ENSP00000206765:E520G;ENSP00000439446:E78G	ENSP00000206765:E520G	E	-	2	0	TGM1	23794496	0.251000	0.23961	1.000000	0.80357	0.994000	0.84299	2.134000	0.42102	2.046000	0.60703	0.533000	0.62120	GAG		0.537	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
AKAP6	9472	hgsc.bcm.edu	37	14	33293351	33293351	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:33293351C>T	ENST00000280979.4	+	13	6502	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2111					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTTTTATTCGTACTTATCT	0.463																																					Melanoma(49;821 1200 7288 13647 42351)												0			14											97.0	96.0	96.0					14																	33293351		2203	4300	6503	32363102	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6332C>T	14.37:g.33293351C>T	ENSP00000280979:p.Ser2111Leu		32363102	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103418	0.94245	.	.	ENSG00000151320	ENST00000280979	T	0.53857	0.6	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74456	-0.3659	10	0.87932	D	0	-9.1485	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2111	Q13023	AKAP6_HUMAN	L	2111	ENSP00000280979:S2111L	ENSP00000280979:S2111L	S	+	2	0	AKAP6	32363102	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.851000	0.69481	2.861000	0.98227	0.655000	0.94253	TCG		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
RAD51B	5890	hgsc.bcm.edu	37	14	68301901	68301901	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:68301901A>G	ENST00000487270.1	+	4	351	c.303A>G	c.(301-303)ggA>ggG	p.G101G	RAD51B_ENST00000487861.1_Silent_p.G101G|RAD51B_ENST00000390683.3_Silent_p.G101G|RAD51B_ENST00000488612.1_Silent_p.G101G|RAD51B_ENST00000471583.1_Silent_p.G101G	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	101					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGCTTGTGGATCCCTCACAG	0.398								Direct reversal of damage																																									0			14											98.0	97.0	97.0					14																	68301901		2203	4300	6503	67371654	SO:0001819	synonymous_variant	5890			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.303A>G	14.37:g.68301901A>G			67371654	O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	CCDS9789.1																																																																																				0.398	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1		
PCNX	22990	hgsc.bcm.edu	37	14	71444183	71444183	+	Missense_Mutation	SNP	C	C	T	rs371108639		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:71444183C>T	ENST00000304743.2	+	6	1575	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	PCNX_ENST00000238570.5_Missense_Mutation_p.R377W|PCNX_ENST00000439984.3_Missense_Mutation_p.R377W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	377						integral component of membrane (GO:0016021)		p.R377W(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCTGAGCACACGGAGTAGTGG	0.478																																																	1	Substitution - Missense(1)	prostate(1)	14						C	TRP/ARG	0,4406		0,0,2203	69.0	74.0	72.0		1129	5.0	1.0	14		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNX	NM_014982.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	377/2342	71444183	1,13005	2203	4300	6503	70513936	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1129C>T	14.37:g.71444183C>T	ENSP00000304192:p.Arg377Trp		70513936	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791386	0.50102	0.0	1.16E-4	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12255	3.16;3.16;2.7	5.93	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.23492	0.0568	N	0.24115	0.695	0.50813	D	0.99989	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.79108	0.893;0.936;0.992	T	0.00888	-1.1526	10	0.66056	D	0.02	.	13.9508	0.64116	0.2597:0.7403:0.0:0.0	.	377;377;377	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	W	377	ENSP00000304192:R377W;ENSP00000238570:R377W;ENSP00000396617:R377W	ENSP00000238570:R377W	R	+	1	2	PCNX	70513936	0.942000	0.31987	0.971000	0.41717	0.938000	0.57974	2.124000	0.42006	2.816000	0.96949	0.650000	0.86243	CGG		0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
SAMD15	161394	hgsc.bcm.edu	37	14	77844697	77844697	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:77844697T>C	ENST00000216471.4	+	1	1222	c.936T>C	c.(934-936)ttT>ttC	p.F312F	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	312										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACCAGACTTTCCAGACCACA	0.453																																																	0			14											80.0	81.0	80.0					14																	77844697		2203	4300	6503	76914450	SO:0001819	synonymous_variant	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.936T>C	14.37:g.77844697T>C			76914450	Q2M3P3	Silent	SNP	ENST00000216471.4	37	CCDS32126.1																																																																																				0.453	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
Unknown	0	hgsc.bcm.edu	37	Y	21154569	21154569	+	IGR	SNP	A	A	G	rs17855271		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrY:21154569A>G								TTTY14 (114455 upstream) : RNU6-255P (26299 downstream)																							GCCCCAGCCCAAGCCTGGCCA	0.612																																																	0			Y																																								19613957	SO:0001628	intergenic_variant	100133941																															Y.37:g.21154569A>G			19613957		Silent	SNP		37																																																																																				0	0.612								
ABCA7	10347	hgsc.bcm.edu	37	19	1047523	1047523	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:1047523C>T	ENST00000263094.6	+	16	2370	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	ABCA7_ENST00000435683.2_Silent_p.G575G|ABCA7_ENST00000433129.1_Silent_p.G713G|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	713					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCGAGGGCGCGCAGTGGC	0.706																																																	0			19											15.0	19.0	18.0					19																	1047523		2190	4287	6477	998523	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2139C>T	19.37:g.1047523C>T			998523	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																				0.706	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
STK11	6794	hgsc.bcm.edu	37	19	1207057	1207057	+	Missense_Mutation	SNP	T	T	C	rs137853080		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:1207057T>C	ENST00000326873.7	+	1	1318	c.145T>C	c.(145-147)Tac>Cac	p.Y49H	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with SIRT1.		Y -> D (in melanoma; sporadic malignant; somatic mutation). {ECO:0000269|PubMed:10201537}.		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.Y49D(1)|p.A43_L50del(1)		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)		CATCGGCAAGTACCTGATGGG	0.617		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"""	25	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Deletion - In frame(1)	cervix(15)|lung(4)|skin(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	19											37.0	42.0	40.0					19																	1207057		2072	4191	6263	1158057	SO:0001583	missense	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.145T>C	19.37:g.1207057T>C	ENSP00000324856:p.Tyr49His		1158057	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.930988	0.92389	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90004	-2.6	3.9	3.9	0.45041	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.069625	0.64402	D	0.000012	D	0.96150	0.8745	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96732	0.9540	10	0.87932	D	0	-29.1932	11.9419	0.52905	0.0:0.0:0.0:1.0	.	49	Q15831	STK11_HUMAN	H	49	ENSP00000324856:Y49H	ENSP00000324856:Y49H	Y	+	1	0	STK11	1158057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.615000	0.83006	1.416000	0.47057	0.379000	0.24179	TAC		0.617	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
ZGLP1	100125288	hgsc.bcm.edu	37	19	10415835	10415835	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:10415835T>C	ENST00000403903.3	-	4	1946	c.748A>G	c.(748-750)Aaa>Gaa	p.K250E	ZGLP1_ENST00000403352.1_Missense_Mutation_p.K166E	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	250					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TGGACATTTTTCCTGGGCACC	0.567																																																	0			19											63.0	67.0	66.0					19																	10415835		2021	4188	6209	10276835	SO:0001583	missense	0			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.748A>G	19.37:g.10415835T>C	ENSP00000384434:p.Lys250Glu		10276835		Missense_Mutation	SNP	ENST00000403903.3	37	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408224	0.83340	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.99023	-5.3;-5.34	5.67	4.59	0.56863	Zinc finger, GATA-type (1);	.	.	.	.	D	0.98080	0.9367	N	0.19112	0.55	0.35807	D	0.823597	D	0.76494	0.999	D	0.71414	0.973	D	0.99888	1.1128	9	0.72032	D	0.01	-10.0425	10.6295	0.45527	0.0:0.0:0.1608:0.8391	.	250	P0C6A0	ZGLP1_HUMAN	E	250;166	ENSP00000384434:K250E;ENSP00000385403:K166E	ENSP00000385403:K166E	K	-	1	0	ZGLP1	10276835	1.000000	0.71417	0.994000	0.49952	0.754000	0.42855	3.595000	0.54016	2.169000	0.68431	0.459000	0.35465	AAA		0.567	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167	
TMED1	11018	hgsc.bcm.edu	37	19	10945724	10945724	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:10945724C>A	ENST00000214869.2	-	3	449	c.351G>T	c.(349-351)aaG>aaT	p.K117N	C19orf38_ENST00000592854.1_5'Flank|TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Intron	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	117	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.K117K(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						AGAACACCAGCTTCTCGGAGA	0.557																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	19											117.0	114.0	115.0					19																	10945724		2203	4300	6503	10806724	SO:0001583	missense	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.351G>T	19.37:g.10945724C>A	ENSP00000214869:p.Lys117Asn		10806724		Missense_Mutation	SNP	ENST00000214869.2	37	CCDS12249.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584417	0.86748	.	.	ENSG00000099203	ENST00000214869	T	0.67345	-0.26	5.15	4.09	0.47781	GOLD (3);	0.046316	0.85682	D	0.000000	D	0.84768	0.5545	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85869	0.1415	10	0.87932	D	0	-30.0631	8.0593	0.30623	0.0:0.8018:0.0:0.1982	.	117	Q13445	TMED1_HUMAN	N	117	ENSP00000214869:K117N	ENSP00000214869:K117N	K	-	3	2	TMED1	10806724	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	2.503000	0.45407	1.091000	0.41335	0.561000	0.74099	AAG		0.557	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452614.1	NM_006858	
DNASE2	1777	hgsc.bcm.edu	37	19	12992140	12992140	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:12992140A>G	ENST00000222219.3	-	1	142	c.50T>C	c.(49-51)cTg>cCg	p.L17P	DNASE2_ENST00000538460.1_Missense_Mutation_p.L17P|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	17					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GTAGCAGGTCAGGGCCCCGGC	0.697																																																	0			19											7.0	8.0	8.0					19																	12992140		2164	4232	6396	12853140	SO:0001583	missense	1777			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.50T>C	19.37:g.12992140A>G	ENSP00000222219:p.Leu17Pro		12853140	B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858683	0.51376	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.16457	2.35;2.34	5.37	4.35	0.52113	.	0.141241	0.45867	D	0.000328	T	0.22044	0.0531	M	0.83118	2.625	0.25731	N	0.985264	B;B	0.34161	0.439;0.439	B;B	0.33846	0.171;0.171	T	0.26121	-1.0112	10	0.54805	T	0.06	.	7.1526	0.25618	0.9014:0.0:0.0986:0.0	.	17;17	B7Z4K6;O00115	.;DNS2A_HUMAN	P	17	ENSP00000222219:L17P;ENSP00000445988:L17P	ENSP00000222219:L17P	L	-	2	0	DNASE2	12853140	0.966000	0.33281	0.679000	0.29978	0.192000	0.23643	2.546000	0.45778	2.045000	0.60652	0.459000	0.35465	CTG		0.697	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1		
NWD1	284434	hgsc.bcm.edu	37	19	16884050	16884050	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:16884050G>A	ENST00000552788.1	+	9	2524	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000524140.2_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	842							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAGTTGTGCGCACACCCTGT	0.622																																																	0			19											59.0	56.0	57.0					19																	16884050		2203	4299	6502	16745050	SO:0001583	missense	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2524G>A	19.37:g.16884050G>A	ENSP00000447224:p.Ala842Thr		16745050	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	-	2.846	-0.239371	0.05944	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57752	0.38;0.44;0.38;0.38;0.43;0.43	4.04	1.84	0.25277	.	0.486738	0.20217	U	0.096761	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.15719	0.008;0.006;0.014	B;B;B	0.08055	0.002;0.003;0.002	T	0.17992	-1.0351	10	0.15499	T	0.54	-4.5338	6.9503	0.24542	0.1883:0.5547:0.257:0.0	.	842;842;707	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	707;842;842;842;636;842;707	ENSP00000428579:A842T;ENSP00000447548:A842T;ENSP00000369136:A842T;ENSP00000428955:A636T;ENSP00000447224:A842T;ENSP00000340159:A707T	ENSP00000340159:A707T	A	+	1	0	NWD1	16745050	0.285000	0.24296	0.001000	0.08648	0.060000	0.15804	0.447000	0.21710	0.129000	0.18514	-2.490000	0.00194	GCA		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
MAP1S	55201	hgsc.bcm.edu	37	19	17844122	17844122	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:17844122G>A	ENST00000324096.4	+	6	3060	c.2909G>A	c.(2908-2910)cGc>cAc	p.R970H	MAP1S_ENST00000544059.2_Missense_Mutation_p.R944H|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	970	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTTCCAGCGCGTGCGCGCG	0.677																																																	0			19											38.0	30.0	33.0					19																	17844122		2196	4297	6493	17705122	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2909G>A	19.37:g.17844122G>A	ENSP00000325313:p.Arg970His		17705122	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739690	0.49045	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20463	2.07;2.07	4.54	4.54	0.55810	.	0.000000	0.44483	D	0.000442	T	0.39911	0.1096	M	0.67397	2.05	0.21950	N	0.999453	D;D	0.89917	1.0;1.0	D;D	0.71414	0.968;0.973	T	0.18493	-1.0335	10	0.87932	D	0	-26.2893	8.596	0.33716	0.1079:0.0:0.8921:0.0	.	944;970	B4DH53;Q66K74	.;MAP1S_HUMAN	H	970;944	ENSP00000325313:R970H;ENSP00000439243:R944H	ENSP00000325313:R970H	R	+	2	0	MAP1S	17705122	0.972000	0.33761	0.070000	0.20053	0.004000	0.04260	5.618000	0.67722	2.064000	0.61679	0.591000	0.81541	CGC		0.677	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
GDF15	9518	hgsc.bcm.edu	37	19	18497015	18497015	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:18497015C>A	ENST00000252809.3	+	1	48	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	6					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CGGGCAAGAACTCAGGACGGT	0.652																																																	0			19											47.0	50.0	49.0					19																	18497015		2203	4300	6503	18358015	SO:0001583	missense	9518			BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.16C>A	19.37:g.18497015C>A	ENSP00000252809:p.Leu6Ile		18358015	O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941436	0.18281	.	.	ENSG00000130513	ENST00000252809	D	0.82803	-1.65	3.74	-2.03	0.07365	.	1.094490	0.07257	N	0.866871	T	0.67664	0.2917	N	0.22421	0.69	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.51220	-0.8733	10	0.33940	T	0.23	-0.8063	4.5679	0.12196	0.0:0.3827:0.3525:0.2648	.	6	Q99988	GDF15_HUMAN	I	6	ENSP00000252809:L6I	ENSP00000252809:L6I	L	+	1	0	GDF15	18358015	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.050000	0.14120	-0.206000	0.10203	0.313000	0.20887	CTC		0.652	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864	
PBX4	80714	hgsc.bcm.edu	37	19	19675818	19675818	+	Silent	SNP	C	C	T	rs145467560		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:19675818C>T	ENST00000251203.9	-	6	1135	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	283			T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCGTTTTACCCGTGTAAATGG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19441	0.0		0.0	False		,,,				2504	0.0																0			19						C		6,4400	11.4+/-27.6	0,6,2197	313.0	317.0	316.0		849	-5.8	0.0	19	dbSNP_134	316	0,8600		0,0,4300	no	coding-synonymous	PBX4	NM_025245.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		283/375	19675818	6,13000	2203	4300	6503	19536818	SO:0001819	synonymous_variant	80714			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.849G>A	19.37:g.19675818C>T			19536818	A5D8Y0|B3KUK9	Silent	SNP	ENST00000251203.9	37	CCDS12406.1																																																																																				0.532	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6		
LRP3	4037	hgsc.bcm.edu	37	19	33696897	33696897	+	Silent	SNP	C	C	T	rs11084712	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:33696897C>T	ENST00000253193.7	+	5	1423	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	407					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GTGCCAGCGGCCGAGACGAGC	0.682													C|||	1298	0.259185	0.1672	0.3761	5008	,	,		13617	0.2262		0.2207	False		,,,				2504	0.3742																0			19						C		667,3667		52,563,1552	9.0	9.0	9.0		1221	3.0	1.0	19	dbSNP_120	9	1559,6947		146,1267,2840	no	coding-synonymous	LRP3	NM_002333.3		198,1830,4392	TT,TC,CC		18.3282,15.3899,17.3364		407/771	33696897	2226,10614	2167	4253	6420	38388737	SO:0001819	synonymous_variant	4037			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1221C>T	19.37:g.33696897C>T			38388737	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.682	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
CEBPA	1050	hgsc.bcm.edu	37	19	33792390	33792390	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:33792390G>T	ENST00000498907.2	-	1	1080	c.931C>A	c.(931-933)Cag>Aag	p.Q311K	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	311	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R306fs*48(3)|p.T310_Q311insS(2)|p.T310_Q311insT(2)|p.T310_Q311insV(2)|p.T310_Q311insET(2)|p.Q311*(1)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.Q311>PQ(1)|p.T310_Q311insGGQT(1)|p.N307_Q312del(1)|p.Q311del(1)|p.T310_Q311del(1)|p.T310_Q311insKQ(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ACCTTCTGCTGCGTCTCCACG	0.647			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	21	Insertion - In frame(10)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - Nonsense(1)|Unknown(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(21)	19											53.0	54.0	54.0					19																	33792390		2203	4300	6503	38484230	SO:0001583	missense	1050	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.931C>A	19.37:g.33792390G>T	ENSP00000427514:p.Gln311Lys		38484230	A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	ENST00000498907.2	37	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853532	0.91355	.	.	ENSG00000245848	ENST00000498907	T	0.43688	0.94	4.7	4.7	0.59300	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	.	.	.	.	T	0.66107	0.2756	M	0.78049	2.395	0.80722	D	1	D	0.65815	0.995	D	0.78314	0.991	T	0.72023	-0.4415	9	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	311	P49715	CEBPA_HUMAN	K	311	ENSP00000427514:Q311K	ENSP00000427514:Q311K	Q	-	1	0	CEBPA	38484230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.914000	0.87478	2.133000	0.65898	0.462000	0.41574	CAG		0.647	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364	
ZNF607	84775	hgsc.bcm.edu	37	19	38189363	38189363	+	Missense_Mutation	SNP	C	C	T	rs376563408		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:38189363C>T	ENST00000355202.4	-	5	2264	c.1669G>A	c.(1669-1671)Gct>Act	p.A557T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.A556T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGTTTCTCAGCGCTATGAATA	0.423																																																	0			19						C	THR/ALA,THR/ALA	0,4406		0,0,2203	44.0	42.0	43.0		1666,1669	2.0	0.1	19		43	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF607	NM_001172677.1,NM_032689.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	556/696,557/697	38189363	1,13005	2203	4300	6503	42881203	SO:0001583	missense	84775			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1669G>A	19.37:g.38189363C>T	ENSP00000347338:p.Ala557Thr		42881203	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849261	0.71603	0.0	1.16E-4	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17854	2.25;2.25	1.97	1.97	0.26223	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17874	0.0429	L	0.31526	0.94	0.31359	N	0.681558	P;D	0.57571	0.527;0.98	B;P	0.49451	0.127;0.611	T	0.15636	-1.0430	9	0.72032	D	0.01	.	10.9265	0.47193	0.0:1.0:0.0:0.0	.	557;556	Q96SK3;F5H141	ZN607_HUMAN;.	T	557;556	ENSP00000347338:A557T;ENSP00000438015:A556T	ENSP00000347338:A557T	A	-	1	0	ZNF607	42881203	0.058000	0.20735	0.112000	0.21494	0.048000	0.14542	3.629000	0.54266	1.080000	0.41073	0.561000	0.74099	GCT		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
RYR1	6261	hgsc.bcm.edu	37	19	38980821	38980821	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:38980821C>T	ENST00000359596.3	+	36	5920	c.5920C>T	c.(5920-5922)Cgg>Tgg	p.R1974W	RYR1_ENST00000360985.3_Missense_Mutation_p.R1974W|RYR1_ENST00000355481.4_Missense_Mutation_p.R1974W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1974	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R1974W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCAACCAGCGGAGCCGCTA	0.602																																																	1	Substitution - Missense(1)	ovary(1)	19											60.0	53.0	55.0					19																	38980821		2203	4300	6503	43672661	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5920C>T	19.37:g.38980821C>T	ENSP00000352608:p.Arg1974Trp		43672661	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859942	0.32884	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73897	-0.79;-0.79;-0.79	4.61	-0.288	0.12855	.	0.000000	0.64402	U	0.000014	D	0.84620	0.5512	M	0.83483	2.645	0.30899	N	0.729433	D;D	0.89917	1.0;1.0	D;P	0.66084	0.941;0.874	D	0.85554	0.1223	10	0.66056	D	0.02	.	15.5957	0.76578	0.7178:0.2821:0.0:0.0	.	1974;1974	P21817-2;P21817	.;RYR1_HUMAN	W	1974	ENSP00000352608:R1974W;ENSP00000347667:R1974W;ENSP00000354254:R1974W	ENSP00000347667:R1974W	R	+	1	2	RYR1	43672661	0.978000	0.34361	0.953000	0.39169	0.498000	0.33706	0.101000	0.15251	-0.104000	0.12154	-0.270000	0.10280	CGG		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
ZNF227	7770	hgsc.bcm.edu	37	19	44732645	44732645	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:44732645A>G	ENST00000313040.7	+	4	312	c.107A>G	c.(106-108)gAa>gGa	p.E36G	ZNF227_ENST00000589707.1_5'UTR|ZNF227_ENST00000586228.1_Silent_p.G22G|ZNF227_ENST00000589005.1_5'UTR|ZNF227_ENST00000391961.2_5'UTR|ZNF227_ENST00000589237.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TCCAGGGAGGAACTGCGACTG	0.493																																																	0			19											243.0	211.0	222.0					19																	44732645		2203	4300	6503	49424485	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.107A>G	19.37:g.44732645A>G	ENSP00000321049:p.Glu36Gly		49424485	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423246	0.43020	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000418980	T	0.12255	2.7	3.84	3.84	0.44239	Krueppel-associated box (4);	.	.	.	.	T	0.52869	0.1761	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69457	-0.5140	9	0.87932	D	0	.	10.9005	0.47049	1.0:0.0:0.0:0.0	.	22;16;36	Q658S5;Q9NS43;Q86WZ6	.;.;ZN227_HUMAN	G	36;21;22	ENSP00000321049:E36G	ENSP00000321049:E36G	E	+	2	0	ZNF227	49424485	1.000000	0.71417	0.966000	0.40874	0.085000	0.17905	5.335000	0.65929	1.746000	0.51805	0.402000	0.26972	GAA		0.493	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
CLPTM1	1209	hgsc.bcm.edu	37	19	45495656	45495656	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:45495656A>G	ENST00000337392.5	+	13	1871	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.D472G|CLPTM1_ENST00000541297.2_Missense_Mutation_p.D560G	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	574					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCTGCGGGACGGTGAGGCC	0.647																																																	0			19											130.0	126.0	127.0					19																	45495656		2203	4300	6503	50187496	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1721A>G	19.37:g.45495656A>G	ENSP00000336994:p.Asp574Gly		50187496	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535841	0.85812	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.21	5.21	0.72293	.	0.054132	0.64402	D	0.000001	T	0.77850	0.4192	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80600	-0.1310	9	0.87932	D	0	-45.3221	11.4443	0.50114	1.0:0.0:0.0:0.0	.	560;574	F5H8J3;O96005	.;CLPT1_HUMAN	G	472;560;574;574	.	ENSP00000336994:D574G	D	+	2	0	CLPTM1	50187496	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	8.381000	0.90152	2.202000	0.70862	0.529000	0.55759	GAC		0.647	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
MARK4	57787	hgsc.bcm.edu	37	19	45783968	45783968	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:45783968C>A	ENST00000262891.4	+	12	1583	c.1252C>A	c.(1252-1254)Cgc>Agc	p.R418S	MARK4_ENST00000300843.4_Missense_Mutation_p.R418S	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	418			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R418C(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACCTACCACCGCCAGCGCAG	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)	19											104.0	83.0	90.0					19																	45783968		2203	4300	6503	50475808	SO:0001583	missense	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1252C>A	19.37:g.45783968C>A	ENSP00000262891:p.Arg418Ser		50475808	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052942	0.75960	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.71934	-0.55;-0.61	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.79913	0.4528	L	0.53249	1.67	0.58432	D	0.999994	D;D;D	0.69078	0.978;0.997;0.996	P;D;D	0.79108	0.717;0.987;0.992	T	0.79281	-0.1868	10	0.51188	T	0.08	.	12.6992	0.57022	0.1645:0.8355:0.0:0.0	.	284;418;418	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	S	418	ENSP00000262891:R418S;ENSP00000300843:R418S	ENSP00000262891:R418S	R	+	1	0	MARK4	50475808	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.183000	0.42565	2.804000	0.96469	0.462000	0.41574	CGC		0.612	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
LIG1	3978	hgsc.bcm.edu	37	19	48657141	48657141	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:48657141T>C	ENST00000263274.7	-	6	873	c.454A>G	c.(454-456)Aag>Gag	p.K152E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122E|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K152E(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tcctcctccttcttcctcttg	0.582								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	large_intestine(1)	19											196.0	113.0	141.0					19																	48657141		2203	4300	6503	53348953	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.454A>G	19.37:g.48657141T>C	ENSP00000263274:p.Lys152Glu		53348953	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.303	0.423919	0.11928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	3.99	0.46301	.	0.866238	0.10215	N	0.701604	T	0.46908	0.1417	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.281;0.231	B;B	0.27608	0.081;0.027	T	0.33445	-0.9868	10	0.05959	T	0.93	-18.4584	9.5636	0.39385	0.0:0.0:0.0:1.0	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	E	152;184;122	ENSP00000263274:K152E;ENSP00000442841:K122E	ENSP00000263274:K152E	K	-	1	0	LIG1	53348953	0.563000	0.26594	0.998000	0.56505	0.189000	0.23516	1.790000	0.38734	2.028000	0.59812	0.496000	0.49642	AAG		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
BAX	581	hgsc.bcm.edu	37	19	49458976	49458976	+	Missense_Mutation	SNP	G	G	A	rs398122842		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:49458976G>A	ENST00000345358.7	+	3	171	c.119G>A	c.(118-120)gGg>gAg	p.G40E	BAX_ENST00000293288.8_Missense_Mutation_p.G40E|BAX_ENST00000354470.3_Intron|BAX_ENST00000415969.2_Missense_Mutation_p.G40E|BAX_ENST00000391871.3_Missense_Mutation_p.G23R|BAX_ENST00000539787.1_Missense_Mutation_p.G40E	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	40					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CGAATGGGGGGGGAGGCACCC	0.597																																																	0			19											58.0	56.0	57.0					19																	49458976		2203	4300	6503	54150788	SO:0001583	missense	581				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.119G>A	19.37:g.49458976G>A	ENSP00000263262:p.Gly40Glu		54150788	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	37	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.595|5.595	0.294558|0.294558	0.10567|0.10567	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000293288|ENST00000391871	T;T;T;T|.	0.28255|.	2.84;1.62;3.03;2.98|.	4.21|4.21	2.07|2.07	0.26955|0.26955	.|.	0.354000|0.354000	0.30244|0.30244	N|N	0.010067|0.010067	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.34521|0.34521	1.04|1.04	0.19300|0.19300	N|N	0.999973|0.999973	B;B;B|.	0.16396|.	0.0;0.002;0.017|.	B;B;B|.	0.15052|.	0.001;0.006;0.012|.	T|T	0.21449|0.21449	-1.0245|-1.0245	10|7	0.06236|0.87932	T|D	0.91|0	-2.542|-2.542	6.5948|6.5948	0.22666|0.22666	0.2156:0.0:0.7844:0.0|0.2156:0.0:0.7844:0.0	.|.	40;40;40|.	Q07812;Q07812-8;Q07812-2|.	BAX_HUMAN;.;.|.	E|R	40|23	ENSP00000441413:G40E;ENSP00000263262:G40E;ENSP00000389971:G40E;ENSP00000293288:G40E|.	ENSP00000293288:G40E|ENSP00000375744:G23R	G|G	+|+	2|1	0|0	BAX|BAX	54150788|54150788	1.000000|1.000000	0.71417|0.71417	0.224000|0.224000	0.23877|0.23877	0.093000|0.093000	0.18481|0.18481	1.921000|1.921000	0.40035|0.40035	0.733000|0.733000	0.32492|0.32492	0.557000|0.557000	0.71058|0.71058	GGG|GGG		0.597	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
TRPM4	54795	hgsc.bcm.edu	37	19	49671933	49671933	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:49671933G>A	ENST00000252826.5	+	6	862	c.736G>A	c.(736-738)Gag>Aag	p.E246K	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.E246K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	246					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTGGGGGGCGAGAACCGCTT	0.647																																																	0			19											31.0	28.0	29.0					19																	49671933		2203	4300	6503	54363745	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.736G>A	19.37:g.49671933G>A	ENSP00000252826:p.Glu246Lys		54363745	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974562	0.53720	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.09630	2.96;2.96	4.49	4.49	0.54785	.	0.213774	0.37623	N	0.002005	T	0.38295	0.1035	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.75020	0.915;0.915;0.985	T	0.40327	-0.9569	10	0.59425	D	0.04	-21.487	16.5383	0.84377	0.0:0.0:1.0:0.0	.	72;246;246	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	K	246	ENSP00000252826:E246K;ENSP00000407492:E246K	ENSP00000252826:E246K	E	+	1	0	TRPM4	54363745	1.000000	0.71417	0.997000	0.53966	0.294000	0.27393	5.543000	0.67225	2.531000	0.85337	0.555000	0.69702	GAG		0.647	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	
SIGLEC8	27181	hgsc.bcm.edu	37	19	51961585	51961585	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:51961585T>C	ENST00000321424.3	-	1	123	c.57A>G	c.(55-57)ggA>ggG	p.G19G	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Silent_p.G19G|SIGLEC8_ENST00000430817.1_Silent_p.G19G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	19					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATTGTCTGTCTCCCTCCATCC	0.622																																																	0			19											86.0	83.0	84.0					19																	51961585		2203	4300	6503	56653397	SO:0001819	synonymous_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.57A>G	19.37:g.51961585T>C			56653397	Q7Z728	Silent	SNP	ENST00000321424.3	37	CCDS33086.1																																																																																				0.622	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
MYADM	91663	hgsc.bcm.edu	37	19	54377532	54377532	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:54377532T>C	ENST00000391769.2	+	3	1029	c.749T>C	c.(748-750)cTc>cCc	p.L250P	MYADM_ENST00000391770.4_Missense_Mutation_p.L250P|MYADM_ENST00000336967.3_Missense_Mutation_p.L250P|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Missense_Mutation_p.L250P|MYADM_ENST00000391771.1_Missense_Mutation_p.L250P	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	250	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTGTCCTCCTCTATGCCACC	0.632																																																	0			19											92.0	85.0	88.0					19																	54377532		2203	4300	6503	59069344	SO:0001583	missense	91663			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.749T>C	19.37:g.54377532T>C	ENSP00000375649:p.Leu250Pro		59069344	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030436	0.35797	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	4.3	3.27	0.37495	Marvel (1);MARVEL-like domain (1);	0.418686	0.17771	N	0.162589	T	0.52773	0.1755	M	0.78344	2.41	0.41002	D	0.984934	D	0.58620	0.983	P	0.60541	0.876	T	0.57562	-0.7790	10	0.72032	D	0.01	-16.1523	7.4697	0.27342	0.0:0.1058:0.0:0.8942	.	250	Q96S97	MYADM_HUMAN	P	250;250;250;250;213;250;250	ENSP00000337222:L250P;ENSP00000375650:L250P;ENSP00000416919:L250P;ENSP00000375651:L250P;ENSP00000375649:L250P;ENSP00000375648:L250P	ENSP00000337222:L250P	L	+	2	0	MYADM	59069344	0.919000	0.31177	0.038000	0.18304	0.385000	0.30292	3.405000	0.52630	1.734000	0.51633	0.254000	0.18369	CTC		0.632	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55341633	55341633	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:55341633G>A	ENST00000391728.4	+	9	1271	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R318H|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R396H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R413H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R396H	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	413					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAAATCACTCGCCCTTCTCAG	0.502																																																	0			19											250.0	238.0	242.0					19																	55341633		2174	4168	6342	60033445	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1238G>A	19.37:g.55341633G>A	ENSP00000375608:p.Arg413His		60033445	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.945	-0.708423	0.03230	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00479	7.21;7.12;7.21;7.12;7.25	0.569	-1.14	0.09741	.	.	.	.	.	T	0.00328	0.0010	L	0.48174	1.505	0.09310	N	1	B;B;B	0.15719	0.014;0.007;0.004	B;B;B	0.13407	0.009;0.004;0.004	T	0.48387	-0.9040	8	0.49607	T	0.09	.	.	.	.	.	396;318;413	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	H	413;396;391;413;396;318	ENSP00000443350:R413H;ENSP00000442355:R396H;ENSP00000375608:R413H;ENSP00000326868:R396H;ENSP00000350901:R318H	ENSP00000326868:R396H	R	+	2	0	KIR3DL1	60033445	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.469000	0.06648	-1.579000	0.01646	-1.121000	0.02013	CGC		0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
NLRP4	147945	hgsc.bcm.edu	37	19	56369203	56369203	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:56369203A>G	ENST00000301295.6	+	3	866	c.444A>G	c.(442-444)ccA>ccG	p.P148P	NLRP4_ENST00000587891.1_Silent_p.P73P|NLRP4_ENST00000346986.5_Silent_p.P148P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	148					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGAAACAGCCACGTACAGTGA	0.473																																																	0			19											137.0	124.0	128.0					19																	56369203		2203	4300	6503	61061015	SO:0001819	synonymous_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.444A>G	19.37:g.56369203A>G			61061015	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ZNF547	284306	hgsc.bcm.edu	37	19	57889115	57889115	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:57889115A>G	ENST00000282282.3	+	4	921	c.771A>G	c.(769-771)acA>acG	p.T257T	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTCATTACACATCAGAGGG	0.433																																																	0			19											125.0	114.0	118.0					19																	57889115		2203	4300	6503	62580927	SO:0001819	synonymous_variant	284306			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.771A>G	19.37:g.57889115A>G			62580927	A8K5Z9|Q96NC4	Silent	SNP	ENST00000282282.3	37	CCDS33131.1																																																																																				0.433	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
NEFM	4741	hgsc.bcm.edu	37	8	24772212	24772212	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:24772212G>A	ENST00000221166.5	+	1	1688	c.906G>A	c.(904-906)gcG>gcA	p.A302A	NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000518131.1_Silent_p.A302A|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000437366.2_Silent_p.A302A|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	302	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCACCGAGGCGGCCGAGCAGA	0.617																																																	0			8											65.0	56.0	59.0					8																	24772212		2203	4300	6503	24828117	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.906G>A	8.37:g.24772212G>A			24828117	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	CCDS6046.1																																																																																				0.617	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
ESCO2	157570	hgsc.bcm.edu	37	8	27650248	27650248	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:27650248C>A	ENST00000305188.8	+	9	1655	c.1417C>A	c.(1417-1419)Cca>Aca	p.P473T	ESCO2_ENST00000397418.2_Missense_Mutation_p.P121T	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	473					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.P473S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCCTAAATGTCCAAACAAAAT	0.313									SC Phocomelia syndrome																																								1	Substitution - Missense(1)	central_nervous_system(1)	8											56.0	56.0	56.0					8																	27650248		2203	4293	6496	27706167	SO:0001583	missense	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1417C>A	8.37:g.27650248C>A	ENSP00000306999:p.Pro473Thr		27706167	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605358	0.28623	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72282	-0.22;-0.64	5.82	3.08	0.35506	.	0.099413	0.64402	D	0.000001	T	0.68165	0.2971	M	0.74546	2.27	0.54753	D	0.999988	P	0.35982	0.531	B	0.37387	0.248	T	0.66384	-0.5937	10	0.87932	D	0	-2.1446	7.6757	0.28484	0.0:0.7146:0.1358:0.1497	.	473	Q56NI9	ESCO2_HUMAN	T	473;121	ENSP00000306999:P473T;ENSP00000380563:P121T	ENSP00000306999:P473T	P	+	1	0	ESCO2	27706167	1.000000	0.71417	0.814000	0.32528	0.372000	0.29890	2.756000	0.47549	0.392000	0.25172	-0.189000	0.12847	CCA		0.313	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
ESCO2	157570	hgsc.bcm.edu	37	8	27650324	27650324	+	Missense_Mutation	SNP	A	A	G	rs143530690		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:27650324A>G	ENST00000305188.8	+	9	1731	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ESCO2_ENST00000397418.2_Missense_Mutation_p.K146R	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	498					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAACCCATCAAACAGGTATGG	0.313									SC Phocomelia syndrome																																								0			8											40.0	42.0	42.0					8																	27650324		2203	4291	6494	27706243	SO:0001583	missense	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1493A>G	8.37:g.27650324A>G	ENSP00000306999:p.Lys498Arg		27706243	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799379	0.31869	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72505	-0.16;-0.66	5.82	4.63	0.57726	.	0.200678	0.50627	D	0.000116	T	0.46718	0.1407	N	0.17594	0.5	0.37016	D	0.895968	B	0.29988	0.264	B	0.23150	0.044	T	0.42899	-0.9424	10	0.16420	T	0.52	-9.9823	5.9393	0.19184	0.7485:0.1682:0.0833:0.0	.	498	Q56NI9	ESCO2_HUMAN	R	498;146	ENSP00000306999:K498R;ENSP00000380563:K146R	ENSP00000306999:K498R	K	+	2	0	ESCO2	27706243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.698000	0.37794	0.982000	0.38575	0.482000	0.46254	AAA		0.313	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
PRKDC	5591	hgsc.bcm.edu	37	8	48752648	48752648	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:48752648G>A	ENST00000314191.2	-	56	7436	c.7380C>T	c.(7378-7380)ttC>ttT	p.F2460F	PRKDC_ENST00000338368.3_Silent_p.F2460F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2461	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGGGAAACGAATTCCACAA	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0			8											68.0	70.0	69.0					8																	48752648		1834	4079	5913	48915201	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7380C>T	8.37:g.48752648G>A			48915201	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37																																																																																					0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
SULF1	23213	hgsc.bcm.edu	37	8	70498635	70498635	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:70498635C>T	ENST00000260128.4	+	7	1173	c.456C>T	c.(454-456)atC>atT	p.I152I	SULF1_ENST00000402687.4_Silent_p.I152I|SULF1_ENST00000419716.3_Silent_p.I152I|SULF1_ENST00000458141.2_Silent_p.I152I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	152					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGCTACATCCCCCCTGGGT	0.348																																																	0			8											57.0	63.0	61.0					8																	70498635		2203	4300	6503	70661189	SO:0001819	synonymous_variant	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.456C>T	8.37:g.70498635C>T			70661189	Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	CCDS6204.1																																																																																				0.348	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
PKIA	5569	hgsc.bcm.edu	37	8	79514030	79514030	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:79514030G>A	ENST00000396418.2	+	4	691	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PKIA_ENST00000518467.1_Missense_Mutation_p.G69R|PKIA_ENST00000352966.5_Missense_Mutation_p.G69R	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	69					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)	p.G69R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GGAAGCCCAGGGAGAAGCAGC	0.413																																																	1	Substitution - Missense(1)	central_nervous_system(1)	8											129.0	114.0	119.0					8																	79514030		2203	4300	6503	79676585	SO:0001583	missense	5569			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.205G>A	8.37:g.79514030G>A	ENSP00000379696:p.Gly69Arg		79676585	P04541|Q6IAV2	Missense_Mutation	SNP	ENST00000396418.2	37	CCDS6222.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702467	0.30232	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.38	5.38	0.77491	.	0.440893	0.22463	N	0.059739	T	0.75451	0.3851	.	.	.	0.40100	D	0.976362	D	0.58268	0.982	D	0.66351	0.943	T	0.76255	-0.3026	7	.	.	.	.	12.4752	0.55809	0.0767:0.0:0.9233:0.0	.	69	P61925	IPKA_HUMAN	R	69	.	.	G	+	1	0	PKIA	79676585	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	5.102000	0.64572	2.523000	0.85059	0.655000	0.94253	GGA		0.413	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379420.1		
CSMD3	114788	hgsc.bcm.edu	37	8	113349921	113349921	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:113349921C>A	ENST00000297405.5	-	43	6936	c.6692G>T	c.(6691-6693)cGa>cTa	p.R2231L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2191L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2127L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2161L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231Q(2)|p.R2191Q(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						AAAACCATTTCGAAACGGGCG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							3	Substitution - Missense(3)	kidney(3)	8											92.0	94.0	93.0					8																	113349921		2203	4300	6503	113419097	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.6692G>T	8.37:g.113349921C>A	ENSP00000297405:p.Arg2231Leu		113419097	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429064	0.62844	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000008	T	0.65004	0.2650	N	0.11845	0.185	0.48830	D	0.999712	D;P;B	0.76494	0.999;0.895;0.05	D;P;B	0.70227	0.968;0.723;0.033	T	0.63377	-0.6651	10	0.27785	T	0.31	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2127;2231;2191	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2191;2231;1501;2127;2161	ENSP00000345799:R2191L;ENSP00000297405:R2231L;ENSP00000341558:R1501L;ENSP00000412263:R2127L;ENSP00000343124:R2161L	ENSP00000297405:R2231L	R	-	2	0	CSMD3	113419097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.750000	0.62162	2.937000	0.99478	0.650000	0.86243	CGA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	114290849	114290849	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:114290849A>G	ENST00000297405.5	-	3	730	c.486T>C	c.(484-486)agT>agC	p.S162S	CSMD3_ENST00000343508.3_Silent_p.S122S|CSMD3_ENST00000455883.2_Silent_p.S162S|CSMD3_ENST00000352409.3_Silent_p.S162S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	162	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCATGAGCACTAACTGCAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											123.0	106.0	112.0					8																	114290849		2203	4300	6503	114360025	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.486T>C	8.37:g.114290849A>G			114360025	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
POU5F1B	5462	hgsc.bcm.edu	37	8	128429032	128429032	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:128429032A>G	ENST00000465342.2	+	2	2078	c.921A>G	c.(919-921)ggA>ggG	p.G307G	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G307G			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TCTCAGGGGGACCAGTGTCCT	0.587																																																	0			8											14.0	14.0	14.0					8																	128429032		692	1591	2283	128498214	SO:0001819	synonymous_variant	5462			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.921A>G	8.37:g.128429032A>G			128498214	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																				0.587	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
LYPD2	137797	hgsc.bcm.edu	37	8	143831749	143831749	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:143831749G>A	ENST00000359228.3	-	3	412	c.330C>T	c.(328-330)ctC>ctT	p.L110L		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	110						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCCGCAGTGGAGGCTGTTCA	0.652																																																	0			8											28.0	25.0	26.0					8																	143831749		2175	4252	6427	143828751	SO:0001819	synonymous_variant	137797			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.330C>T	8.37:g.143831749G>A			143828751	A8K2R6|Q0VD64|Q0VF31	Silent	SNP	ENST00000359228.3	37	CCDS6388.1																																																																																				0.652	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545	
EEF1D	1936	hgsc.bcm.edu	37	8	144663283	144663283	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:144663283G>A	ENST00000529272.1	-	5	731	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	EEF1D_ENST00000526838.1_Missense_Mutation_p.R92W|EEF1D_ENST00000442189.2_Missense_Mutation_p.R477W|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000423316.2_Missense_Mutation_p.R477W|EEF1D_ENST00000532741.1_Missense_Mutation_p.R527W|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000528610.1_Missense_Mutation_p.R87W|EEF1D_ENST00000419152.2_Missense_Mutation_p.R111W|EEF1D_ENST00000524624.1_Missense_Mutation_p.R87W|EEF1D_ENST00000317198.6_Missense_Mutation_p.R111W|EEF1D_ENST00000531621.1_Missense_Mutation_p.R68W|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Missense_Mutation_p.R111W			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	111	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGTTCAGCCGGGCCTCCAGC	0.677																																																	0			8											42.0	43.0	43.0					8																	144663283		2203	4298	6501	144734426	SO:0001583	missense	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.331C>T	8.37:g.144663283G>A	ENSP00000434872:p.Arg111Trp		144734426	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512686	0.85389	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.8	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.79311	0.4424	M	0.87827	2.91	0.80722	D	1	P;D;D;B;D;D	0.89917	0.877;1.0;0.999;0.203;1.0;1.0	B;D;P;B;D;D	0.97110	0.232;0.997;0.908;0.022;1.0;0.999	T	0.81988	-0.0680	9	0.87932	D	0	.	10.9683	0.47424	0.0:0.0:0.6466:0.3533	.	92;477;405;111;527;477	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	W	111;527;92;477;87;111;111;477;405;111;477;68;87;111;87;111;111;111;111;111;92;127	.	ENSP00000317399:R111W	R	-	1	2	EEF1D	144734426	0.987000	0.35691	1.000000	0.80357	0.926000	0.56050	1.877000	0.39598	1.110000	0.41699	0.455000	0.32223	CGG		0.677	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	
EEF1D	1936	hgsc.bcm.edu	37	8	144663457	144663457	+	Silent	SNP	G	G	A	rs370722668		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:144663457G>A	ENST00000529272.1	-	4	631	c.231C>T	c.(229-231)caC>caT	p.H77H	EEF1D_ENST00000526838.1_Splice_Site_p.H77H|EEF1D_ENST00000442189.2_Silent_p.H443H|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000423316.2_Silent_p.H443H|EEF1D_ENST00000532741.1_Silent_p.H493H|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000528610.1_Silent_p.H53H|EEF1D_ENST00000419152.2_Silent_p.H77H|EEF1D_ENST00000524624.1_Silent_p.H53H|EEF1D_ENST00000317198.6_Silent_p.H77H|EEF1D_ENST00000531621.1_Splice_Site_p.H53H|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Silent_p.H77H			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	77					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAGCTCACCGTGGTCTCCGC	0.706																																																	0			8											25.0	25.0	25.0					8																	144663457		2202	4293	6495	144734600	SO:0001819	synonymous_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.231C>T	8.37:g.144663457G>A			144734600	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.706	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	
PARP10	84875	hgsc.bcm.edu	37	8	145057910	145057910	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:145057910T>C	ENST00000313028.7	-	8	1941	c.1847A>G	c.(1846-1848)gAg>gGg	p.E616G	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.E607G|PARP10_ENST00000525773.1_Missense_Mutation_p.E628G	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	616	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCTCCAGCTCCCGAGGCAG	0.687																																																	0			8											17.0	16.0	16.0					8																	145057910		2155	4200	6355	145129898	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1847A>G	8.37:g.145057910T>C	ENSP00000325618:p.Glu616Gly		145129898	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	T	9.032	0.987461	0.18889	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.12984	2.69;2.63;2.63	4.34	3.16	0.36331	.	0.000000	0.48286	D	0.000198	T	0.09158	0.0226	L	0.27053	0.805	0.31845	N	0.623006	B;B	0.12630	0.006;0.006	B;B	0.12837	0.008;0.008	T	0.06427	-1.0827	10	0.54805	T	0.06	.	6.6558	0.22986	0.0:0.1137:0.0:0.8863	.	628;616	E9PNI7;Q53GL7	.;PAR10_HUMAN	G	607;322;616;628	ENSP00000431620:E607G;ENSP00000325618:E616G;ENSP00000434776:E628G	ENSP00000325618:E616G	E	-	2	0	PARP10	145129898	0.000000	0.05858	0.315000	0.25238	0.101000	0.19017	-0.235000	0.09016	0.540000	0.28808	0.393000	0.25936	GAG		0.687	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789	
ATAD3B	83858	hgsc.bcm.edu	37	1	1431060	1431060	+	Missense_Mutation	SNP	T	T	C	rs9792997		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:1431060T>C	ENST00000308647.7	+	16	1926	c.1810T>C	c.(1810-1812)Tac>Cac	p.Y604H		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	604						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGACCCCTCCTACCCCTGCCT	0.682																																																	0			1											33.0	35.0	34.0					1																	1431060		2202	4298	6500	1420923	SO:0001583	missense	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1810T>C	1.37:g.1431060T>C	ENSP00000311766:p.Tyr604His		1420923	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	t	0.011	-1.733306	0.00687	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.94457	-3.43	1.2	-2.41	0.06562	.	9.894780	0.04442	U	0.371029	D	0.84065	0.5390	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.73350	-0.4010	10	0.17832	T	0.49	.	2.7341	0.05235	0.0:0.3111:0.2569:0.4319	rs9792997	558;604	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	H	438;604	ENSP00000311766:Y604H	ENSP00000311766:Y604H	Y	+	1	0	ATAD3B	1420923	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.763000	0.01802	-1.174000	0.02754	-1.140000	0.01884	TAC		0.682	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
CAMTA1	23261	hgsc.bcm.edu	37	1	7798261	7798261	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:7798261T>C	ENST00000303635.7	+	16	4108	c.3901T>C	c.(3901-3903)Tcc>Ccc	p.S1301P	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1301P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1301					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)		CCGGGAACTCTCCCCTCCCAC	0.512			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											48.0	50.0	50.0					1																	7798261		2203	4300	6503	7720848	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.3901T>C	1.37:g.7798261T>C	ENSP00000306522:p.Ser1301Pro		7720848	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671293	0.29693	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.21734	1.99;1.99	5.06	3.91	0.45181	.	0.319538	0.34110	N	0.004242	T	0.11067	0.0270	N	0.16478	0.41	0.25593	N	0.986673	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.20672	-1.0268	10	0.33141	T	0.24	-14.1043	5.3735	0.16152	0.0:0.1483:0.1517:0.7	.	1301;388;257;1301	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	P	1301;1301;388;257	ENSP00000306522:S1301P;ENSP00000402561:S1301P	ENSP00000306522:S1301P	S	+	1	0	CAMTA1	7720848	0.996000	0.38824	0.947000	0.38551	0.998000	0.95712	1.903000	0.39858	0.837000	0.34925	0.533000	0.62120	TCC		0.512	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
UBR4	23352	hgsc.bcm.edu	37	1	19487468	19487468	+	Silent	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:19487468G>T	ENST00000375254.3	-	38	5376	c.5349C>A	c.(5347-5349)ccC>ccA	p.P1783P	UBR4_ENST00000375217.2_Silent_p.P1783P|UBR4_ENST00000375226.2_Silent_p.P1783P|UBR4_ENST00000375267.2_Silent_p.P1783P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1783					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTCTTCTTGGGCTTCTCTT	0.547																																																	0			1											74.0	68.0	70.0					1																	19487468		2203	4300	6503	19360055	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5349C>A	1.37:g.19487468G>T			19360055	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
YTHDF2	51441	hgsc.bcm.edu	37	1	29069170	29069170	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:29069170G>A	ENST00000373812.3	+	4	750	c.388G>A	c.(388-390)Gac>Aac	p.D130N	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.D80N|YTHDF2_ENST00000542507.1_Missense_Mutation_p.D130N	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	130	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.D130N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGGGATTGACTTCTCAGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)	1											168.0	156.0	160.0					1																	29069170		1895	4132	6027	28941757	SO:0001583	missense	51441			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.388G>A	1.37:g.29069170G>A	ENSP00000362918:p.Asp130Asn		28941757	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124810	0.56613	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.41065	1.01;1.01;1.01	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.66939	2.045	0.80722	D	1	P;P	0.49358	0.857;0.923	P;P	0.44811	0.461;0.461	T	0.56353	-0.7993	10	0.66056	D	0.02	-11.7442	17.9052	0.88916	0.0:0.0:1.0:0.0	.	130;130	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	130;130;80;130	ENSP00000444660:D130N;ENSP00000362918:D130N;ENSP00000439394:D80N	ENSP00000362918:D130N	D	+	1	0	YTHDF2	28941757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.594000	0.87642	0.585000	0.79938	GAC		0.478	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258	
KIAA1522	57648	hgsc.bcm.edu	37	1	33231380	33231380	+	Missense_Mutation	SNP	T	T	G	rs6694085	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:33231380T>G	ENST00000373480.1	+	1	113	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	KIAA1522_ENST00000401073.2_Intron|KIAA1522_ENST00000294521.3_Missense_Mutation_p.F4V|KIAA1522_ENST00000373481.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	4										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATGGTGGTGTTCGTTGGCCG	0.637													T|||	708	0.141374	0.0113	0.1023	5008	,	,		12710	0.2262		0.1849	False		,,,				2504	0.2127																0			1																																								33003967	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.10T>G	1.37:g.33231380T>G	ENSP00000362579:p.Phe4Val		33003967	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	320	0.14652014652014653	10	0.02032520325203252	38	0.10497237569060773	129	0.22552447552447552	143	0.18865435356200527	T	15.56	2.870690	0.51695	.	.	ENSG00000162522	ENST00000294521;ENST00000373480	T;T	0.42900	0.96;2.17	4.1	1.74	0.24563	.	.	.	.	.	T	0.00012	0.0000	L	0.46157	1.445	0.40146	P	0.023108000000000017	B;B	0.33612	0.16;0.419	B;B	0.30646	0.037;0.118	T	0.11941	-1.0567	8	0.87932	D	0	.	5.5376	0.17020	0.0:0.2322:0.0:0.7678	rs6694085;rs61533893;rs6694085	4;4	B4DQU8;Q9P206	.;K1522_HUMAN	V	4	ENSP00000294521:F4V;ENSP00000362579:F4V	ENSP00000294521:F4V	F	+	1	0	KIAA1522	33003967	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.509000	0.35780	0.258000	0.21686	0.397000	0.26171	TTC		0.637	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		
KIAA1522	57648	hgsc.bcm.edu	37	1	33231403	33231403	+	Silent	SNP	G	G	T	rs6702519	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:33231403G>T	ENST00000373480.1	+	1	136	c.33G>T	c.(31-33)gcG>gcT	p.A11A	KIAA1522_ENST00000401073.2_Intron|KIAA1522_ENST00000294521.3_Silent_p.A11A|KIAA1522_ENST00000373481.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	11										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCTCCCGGCGCTCCTAGGGC	0.637													G|||	708	0.141374	0.0113	0.1023	5008	,	,		13017	0.2262		0.1849	False		,,,				2504	0.2127																0			1																																								33003990	SO:0001819	synonymous_variant	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.33G>T	1.37:g.33231403G>T			33003990	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	CCDS55588.1																																																																																				0.637	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		
KDM4A	9682	hgsc.bcm.edu	37	1	44132642	44132642	+	Silent	SNP	A	A	G	rs558421747		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:44132642A>G	ENST00000372396.3	+	8	929	c.795A>G	c.(793-795)ggA>ggG	p.G265G	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	265	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGAGGCTGGAGAGTTTATGA	0.473																																																	0			1											157.0	149.0	152.0					1																	44132642		2203	4300	6503	43905229	SO:0001819	synonymous_variant	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.795A>G	1.37:g.44132642A>G			43905229	Q5VVB1	Silent	SNP	ENST00000372396.3	37	CCDS491.1																																																																																				0.473	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
IPP	3652	hgsc.bcm.edu	37	1	46206743	46206743	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:46206743T>A	ENST00000396478.3	-	3	656	c.554A>T	c.(553-555)aAa>aTa	p.K185I		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	185						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TCGCAAAATTTTGATCAGCTG	0.388																																																	0			1											165.0	161.0	162.0					1																	46206743		2203	4300	6503	45979330	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.554A>T	1.37:g.46206743T>A	ENSP00000379739:p.Lys185Ile		45979330	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529406	0.64860	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.70282	-0.47;-0.47	5.19	2.79	0.32731	BTB/Kelch-associated (2);	0.213218	0.51477	D	0.000100	T	0.75781	0.3896	M	0.81682	2.555	0.45747	D	0.998642	B;P	0.43633	0.019;0.813	B;P	0.48552	0.099;0.581	T	0.75238	-0.3388	10	0.62326	D	0.03	.	9.903	0.41359	0.0:0.1364:0.0:0.8636	.	185;185	Q9Y573;A2A6V3	IPP_HUMAN;.	I	185	ENSP00000353024:K185I;ENSP00000379739:K185I	ENSP00000353024:K185I	K	-	2	0	IPP	45979330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.904000	0.39868	0.355000	0.24131	0.533000	0.62120	AAA		0.388	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
SLC5A9	200010	hgsc.bcm.edu	37	1	48713127	48713127	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:48713127A>G	ENST00000438567.2	+	14	2010	c.1958A>G	c.(1957-1959)gAg>gGg	p.E653G	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.E674G|SLC5A9_ENST00000236495.5_Missense_Mutation_p.E678G	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	653					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ACAAGCATTGAGGAGGAGCCA	0.542																																																	0			1											94.0	88.0	90.0					1																	48713127		2203	4300	6503	48485714	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1958A>G	1.37:g.48713127A>G	ENSP00000401730:p.Glu653Gly		48485714	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	A	12.44	1.939476	0.34189	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88509	-2.33;-2.32;-2.39	5.04	1.41	0.22369	.	0.780772	0.12462	N	0.466782	D	0.85592	0.5732	M	0.72118	2.19	0.80722	D	1	B;B;B	0.29862	0.104;0.259;0.259	B;B;B	0.24701	0.024;0.034;0.055	T	0.78553	-0.2160	10	0.52906	T	0.07	.	7.0929	0.25293	0.6252:0.2995:0.0753:0.0	.	674;653;678	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	G	674;653;678	ENSP00000431900:E674G;ENSP00000401730:E653G;ENSP00000236495:E678G	ENSP00000236495:E678G	E	+	2	0	SLC5A9	48485714	0.019000	0.18553	0.228000	0.23943	0.538000	0.34931	1.135000	0.31454	0.072000	0.16694	0.533000	0.62120	GAG		0.542	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
DMRTB1	63948	hgsc.bcm.edu	37	1	53927246	53927246	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:53927246C>T	ENST00000371445.3	+	2	733	c.678C>T	c.(676-678)gaC>gaT	p.D226D	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	226	Pro-rich.				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)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACCTGGACGCCCCTCCTG	0.672																																																	0			1											74.0	65.0	68.0					1																	53927246		2203	4300	6503	53699834	SO:0001819	synonymous_variant	63948			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.678C>T	1.37:g.53927246C>T			53699834	Q96SD2	Silent	SNP	ENST00000371445.3	37	CCDS581.1																																																																																				0.672	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
AK4	205	hgsc.bcm.edu	37	1	65691814	65691814	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:65691814T>C	ENST00000327299.7	+	5	831	c.626T>C	c.(625-627)cTt>cCt	p.L209P	AK4_ENST00000546702.1_Missense_Mutation_p.L157P|AK4_ENST00000395334.2_Missense_Mutation_p.L209P|AK4_ENST00000545314.1_Missense_Mutation_p.L209P	NM_013410.3	NP_037542.1			adenylate kinase 4									p.L209P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GTTTACACACTTTTCTCAAAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)	1											35.0	34.0	34.0					1																	65691814		2203	4296	6499	65464402	SO:0001583	missense	205			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.626T>C	1.37:g.65691814T>C	ENSP00000322175:p.Leu209Pro		65464402		Missense_Mutation	SNP	ENST00000327299.7	37	CCDS629.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926582	0.92319	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.2	5.2	0.72013	.	0.059484	0.64402	D	0.000002	T	0.53254	0.1785	M	0.64997	1.995	0.80722	D	1	D	0.58268	0.982	P	0.60541	0.876	T	0.53906	-0.8372	9	.	.	.	-18.5637	14.8945	0.70633	0.0:0.0:0.0:1.0	.	209	P27144	KAD4_HUMAN	P	209;157;209;209	ENSP00000445912:L209P;ENSP00000448458:L157P;ENSP00000378743:L209P;ENSP00000322175:L209P	.	L	+	2	0	AK4	65464402	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	7.176000	0.77643	2.187000	0.69744	0.528000	0.53228	CTT		0.443	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410	
NRAS	4893	hgsc.bcm.edu	37	1	115258748	115258748	+	Missense_Mutation	SNP	C	C	A	rs121913250		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:115258748C>A	ENST00000369535.4	-	2	287	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12S(133)|p.G12C(81)|p.G12R(18)|p.G12N(2)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCACCTGCTCCAACC	0.493	G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	236	Substitution - Missense(236)	haematopoietic_and_lymphoid_tissue(149)|skin(29)|upper_aerodigestive_tract(21)|large_intestine(13)|thyroid(8)|prostate(6)|lung(4)|soft_tissue(2)|urinary_tract(1)|NS(1)|kidney(1)|pancreas(1)	1											203.0	181.0	189.0					1																	115258748		2203	4300	6503	115060271	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.34G>T	1.37:g.115258748C>A	ENSP00000358548:p.Gly12Cys		115060271	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208516	0.95069	.	.	ENSG00000213281	ENST00000369535	T	0.79141	-1.24	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85826	0.5787	M	0.89904	3.07	0.80722	D	1	P	0.39480	0.675	P	0.49276	0.605	D	0.87171	0.2221	10	0.72032	D	0.01	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	C	12	ENSP00000358548:G12C	ENSP00000358548:G12C	G	-	1	0	NRAS	115060271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
IGSF3	3321	hgsc.bcm.edu	37	1	117146629	117146629	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:117146629T>C	ENST00000369486.3	-	6	2006	c.1241A>G	c.(1240-1242)gAg>gGg	p.E414G	IGSF3_ENST00000318837.6_Missense_Mutation_p.E434G|IGSF3_ENST00000369483.1_Missense_Mutation_p.E434G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	414	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTGGCCACCTCCACGGAGAT	0.617																																																	0			1											11.0	13.0	12.0					1																	117146629		2149	4191	6340	116948152	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1241A>G	1.37:g.117146629T>C	ENSP00000358498:p.Glu414Gly		116948152	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372751	0.42003	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03330	3.97;4.0;4.0	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220320	0.38605	N	0.001623	T	0.01627	0.0052	N	0.22421	0.69	0.39864	D	0.973426	B;P;B	0.41131	0.127;0.739;0.154	B;B;B	0.42959	0.075;0.403;0.122	T	0.64232	-0.6456	10	0.31617	T	0.26	-29.1479	10.8148	0.46569	0.0:0.0:0.0:1.0	.	434;414;434	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	G	414;434;434	ENSP00000358498:E414G;ENSP00000358495:E434G;ENSP00000321184:E434G	ENSP00000321184:E434G	E	-	2	0	IGSF3	116948152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.782000	0.62396	2.043000	0.60533	0.455000	0.32223	GAG		0.617	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
LCE4A	199834	hgsc.bcm.edu	37	1	152681679	152681680	+	Missense_Mutation	DNP	CC	CC	GT	rs6143428|rs11269814|rs200890315	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:152681679_152681680CC>GT	ENST00000368777.1	+	2	384_385	c.128_129CC>GT	c.(127-129)tCC>tGT	p.S43C	LCE4A_ENST00000335535.3_Missense_Mutation_p.S43C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	43	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			TGCTGTGGCTCCAGCTCTGGGG	0.599																																																	0			1																																								150948303|150948304	SO:0001583	missense	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681679_152681680delinsGT	ENSP00000357766:p.Ser43Cys		150948303|150948304	Q14D97	Missense_Mutation|Silent	SNP	ENST00000368777.1	37	CCDS1022.1																																																																																				0.599	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
DENND4B	9909	hgsc.bcm.edu	37	1	153905205	153905205	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:153905205A>G	ENST00000361217.4	-	23	4090	c.3672T>C	c.(3670-3672)ccT>ccC	p.P1224P	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1224					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCAGGGACAGGAGCATCTT	0.622																																																	0			1											42.0	49.0	47.0					1																	153905205		2060	4190	6250	152171829	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3672T>C	1.37:g.153905205A>G			152171829	Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																				0.622	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
SEMA4A	64218	hgsc.bcm.edu	37	1	156146478	156146478	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:156146478A>G	ENST00000368285.3	+	15	2243	c.1976A>G	c.(1975-1977)gAg>gGg	p.E659G	SEMA4A_ENST00000368282.1_Missense_Mutation_p.E659G|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E659G|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E527G|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E527G	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	659					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ATCCCCCGGGAGCATGTGAAG	0.612																																																	0			1											67.0	65.0	66.0					1																	156146478		2203	4300	6503	154413102	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1976A>G	1.37:g.156146478A>G	ENSP00000357268:p.Glu659Gly		154413102	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019593	0.35606	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.48	4.48	0.54585	.	0.413927	0.23461	N	0.047929	T	0.27967	0.0689	M	0.63428	1.95	0.37954	D	0.932764	B;B	0.25441	0.126;0.126	B;B	0.24701	0.055;0.055	T	0.12167	-1.0558	10	0.23891	T	0.37	.	11.7721	0.51965	1.0:0.0:0.0:0.0	.	527;659	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	G	659;659;527;621;621;527;659	ENSP00000347117:E659G;ENSP00000357268:E659G;ENSP00000357267:E527G;ENSP00000357269:E527G;ENSP00000357265:E659G	ENSP00000347117:E659G	E	+	2	0	SEMA4A	154413102	1.000000	0.71417	0.997000	0.53966	0.814000	0.46013	3.666000	0.54540	1.893000	0.54813	0.260000	0.18958	GAG		0.612	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	
CD84	8832	hgsc.bcm.edu	37	1	160535464	160535464	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:160535464G>T	ENST00000311224.4	-	2	184	c.118C>A	c.(118-120)Cct>Act	p.P40T	CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.P40T|CD84_ENST00000368051.3_Missense_Mutation_p.P40T|CD84_ENST00000368054.3_Missense_Mutation_p.P40T	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	40	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P40S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATATTTACAGGGAAAGTGACT	0.433																																																	1	Substitution - Missense(1)	central_nervous_system(1)	1											63.0	61.0	62.0					1																	160535464		2203	4300	6503	158802088	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.118C>A	1.37:g.160535464G>T	ENSP00000312367:p.Pro40Thr		158802088	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904504	0.52333	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.11	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.495500	0.22792	N	0.055595	T	0.34221	0.0890	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D;D	0.71674	0.995;0.995;0.998;0.989;0.994;0.994	P;P;D;P;D;D	0.66979	0.905;0.871;0.948;0.82;0.913;0.913	T	0.25293	-1.0136	10	0.54805	T	0.06	-3.8381	8.3564	0.32333	0.1141:0.0:0.8859:0.0	.	40;40;40;40;40;40	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	T	40	ENSP00000357033:P40T;ENSP00000357027:P40T;ENSP00000312367:P40T;ENSP00000357030:P40T;ENSP00000353163:P40T;ENSP00000357026:P40T	ENSP00000312367:P40T	P	-	1	0	CD84	158802088	0.799000	0.28903	0.928000	0.36995	0.611000	0.37282	0.925000	0.28791	1.434000	0.47414	0.591000	0.81541	CCT		0.433	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
ADAMTS4	9507	hgsc.bcm.edu	37	1	161168189	161168189	+	Missense_Mutation	SNP	C	C	T	rs34448954	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:161168189C>T	ENST00000367996.5	-	1	657	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.A77T|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	77			A -> T (in dbSNP:rs34448954). {ECO:0000269|PubMed:9734811}.		defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CTGGCAGGGGCGCCCGAGCCA	0.677													C|||	257	0.0513179	0.0068	0.0418	5008	,	,		15569	0.0099		0.1113	False		,,,				2504	0.0992																0			1						C	THR/ALA	82,4276		4,74,2101	12.0	12.0	12.0		229	-6.9	0.0	1	dbSNP_126	12	831,7711		48,735,3488	yes	missense	ADAMTS4	NM_005099.4	58	52,809,5589	TT,TC,CC		9.7284,1.8816,7.0775	benign	77/838	161168189	913,11987	2179	4271	6450	159434813	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.229G>A	1.37:g.161168189C>T	ENSP00000356975:p.Ala77Thr		159434813	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	117	0.05357142857142857	7	0.014227642276422764	17	0.04696132596685083	6	0.01048951048951049	87	0.11477572559366754	C	11.17	1.560306	0.27827	0.018816	0.097284	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.07021	3.23;3.23	5.48	-6.94	0.01633	Peptidase M12B, propeptide (1);	1.266050	0.05430	N	0.545706	T	0.00936	0.0031	N	0.08118	0	0.09310	N	0.999995	B;B	0.22346	0.004;0.068	B;B	0.27887	0.003;0.084	T	0.47018	-0.9149	10	0.28530	T	0.3	.	2.4191	0.04444	0.4451:0.2678:0.082:0.2051	rs34448954	77;77	Q5VTW1;O75173	.;ATS4_HUMAN	T	77	ENSP00000356975:A77T;ENSP00000356974:A77T	ENSP00000356974:A77T	A	-	1	0	ADAMTS4	159434813	0.000000	0.05858	0.000000	0.03702	0.828000	0.46876	-1.501000	0.02281	-0.961000	0.03609	0.491000	0.48974	GCC		0.677	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
COLGALT2	23127	hgsc.bcm.edu	37	1	183909896	183909896	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:183909896C>T	ENST00000361927.4	-	11	1794	c.1423G>A	c.(1423-1425)Gta>Ata	p.V475I	COLGALT2_ENST00000486375.1_5'Flank|COLGALT2_ENST00000546159.1_Missense_Mutation_p.V475I|COLGALT2_ENST00000367521.1_Missense_Mutation_p.V83I|COLGALT2_ENST00000367520.3_Missense_Mutation_p.V212I	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	475			V -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.V475I(1)									GGCTCCTTTACTTGCATCCTC	0.473																																																	1	Substitution - Missense(1)	breast(1)	1											127.0	118.0	121.0					1																	183909896		2203	4300	6503	182176519	SO:0001583	missense	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1423G>A	1.37:g.183909896C>T	ENSP00000354960:p.Val475Ile		182176519	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847287	0.51164	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	T;T	0.77358	-1.07;-1.09	5.54	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.68952	2.095	0.54753	D	0.999986	P;B;B	0.47302	0.893;0.179;0.364	B;B;B	0.42692	0.332;0.395;0.3	T	0.74484	-0.3650	9	.	.	.	-25.1966	12.9148	0.58200	0.1294:0.7464:0.1242:0.0	.	475;475;212	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	I	475;475;83;212	ENSP00000439112:V475I;ENSP00000354960:V475I	.	V	-	1	0	GLT25D2	182176519	1.000000	0.71417	0.985000	0.45067	0.714000	0.41099	3.870000	0.56070	0.681000	0.31386	0.655000	0.94253	GTA		0.473	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
CR2	1380	hgsc.bcm.edu	37	1	207646451	207646451	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:207646451T>C	ENST00000367058.3	+	10	2094	c.1905T>C	c.(1903-1905)acT>acC	p.T635T	CR2_ENST00000458541.2_Silent_p.T608T|CR2_ENST00000367057.3_Silent_p.T635T|CR2_ENST00000367059.3_Silent_p.T635T	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	635	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGGATTTACTTTGAAGGGCA	0.398																																																	0			1											93.0	92.0	92.0					1																	207646451		2203	4300	6503	205713074	SO:0001819	synonymous_variant	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1905T>C	1.37:g.207646451T>C			205713074	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	CCDS1478.1																																																																																				0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
RAB3GAP2	25782	hgsc.bcm.edu	37	1	220344349	220344349	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:220344349G>A	ENST00000358951.2	-	24	2807	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	897					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAAGTATGAGACAATCCT	0.473																																																	0			1											148.0	139.0	142.0					1																	220344349		2203	4300	6503	218410972	SO:0001819	synonymous_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2691C>T	1.37:g.220344349G>A			218410972	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	CCDS31028.1																																																																																				0.473	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
OBSCN	84033	hgsc.bcm.edu	37	1	228553825	228553825	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:228553825G>A	ENST00000422127.1	+	83	19158	c.19114G>A	c.(19114-19116)Gga>Aga	p.G6372R	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4006R|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7329R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6372	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAGACAGGCGGAACGGCCCA	0.622																																																	0			1											80.0	86.0	84.0					1																	228553825		2091	4207	6298	226620448	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19114G>A	1.37:g.228553825G>A	ENSP00000409493:p.Gly6372Arg		226620448	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450620|1.450620	0.26074|0.26074	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.74002|.	-0.8;-0.8|.	5.41|5.41	1.13|1.13	0.20643|0.20643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.35451|0.35451	0.0932|0.0932	L|L	0.28504|0.28504	0.86|0.86	0.09310|0.09310	N|N	1|1	B|.	0.29552|.	0.248|.	B|.	0.30029|.	0.11|.	T|T	0.24693|0.24693	-1.0153|-1.0153	9|5	0.34782|.	T|.	0.22|.	.|.	13.6422|13.6422	0.62257|0.62257	0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0	.|.	6372|.	Q5VST9|.	OBSCN_HUMAN|.	R|Q	6372;4006|988	ENSP00000409493:G6372R;ENSP00000355668:G4006R|.	ENSP00000355668:G4006R|.	G|R	+|+	1|2	0|0	OBSCN|OBSCN	226620448|226620448	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	0.470000|0.470000	0.22084|0.22084	-0.078000|-0.078000	0.12730|0.12730	-0.752000|-0.752000	0.03492|0.03492	GGA|CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228560700	228560700	+	Silent	SNP	T	T	C	rs512253	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:228560700T>C	ENST00000422127.1	+	94	22265	c.22221T>C	c.(22219-22221)gaT>gaC	p.D7407D	OBSCN_ENST00000366707.4_Silent_p.D5041D|OBSCN_ENST00000570156.2_Silent_p.D8364D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7407					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCGCTGGATGAGCCTGCAG	0.677													C|||	3796	0.757987	0.9365	0.6398	5008	,	,		15865	0.752		0.5636	False		,,,				2504	0.8067																0			1						C		3642,576		1602,438,69	16.0	22.0	20.0		22221	-7.7	0.1	1	dbSNP_83	20	4624,3806		1316,1992,907	no	coding-synonymous	OBSCN	NM_001098623.1		2918,2430,976	CC,CT,TT		45.1483,13.6558,34.6458		7407/7969	228560700	8266,4382	2109	4215	6324	226627323	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22221T>C	1.37:g.228560700T>C			226627323	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436557	0.12104	0.863442	0.548517	ENSG00000154358	ENST00000441106	.	.	.	5.31	-7.65	0.01281	.	.	.	.	.	.	.	.	.	.	.	0.26408	P	0.9763186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4422	0.16515	0.1714:0.5044:0.1553:0.1689	rs512253;rs3795815	.	.	.	R	2024	.	.	X	+	1	0	OBSCN	226627323	0.942000	0.31987	0.072000	0.20136	0.009000	0.06853	-0.247000	0.08866	-1.794000	0.01256	-3.149000	0.00058	TGA		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
LYST	1130	hgsc.bcm.edu	37	1	235850291	235850291	+	Silent	SNP	G	G	A	rs145136281		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:235850291G>A	ENST00000389794.3	-	48	10932	c.10758C>T	c.(10756-10758)tgC>tgT	p.C3586C	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.C3586C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3586					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGATGACACCGCATTTGCTTC	0.443																																																	0			1						G		0,4406		0,0,2203	145.0	134.0	138.0		10758	-1.7	1.0	1	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3586/3802	235850291	1,13005	2203	4300	6503	233916914	SO:0001819	synonymous_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10758C>T	1.37:g.235850291G>A			233916914	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
ANO9	338440	hgsc.bcm.edu	37	11	428385	428385	+	Missense_Mutation	SNP	A	A	G	rs10794323	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:428385A>G	ENST00000332826.6	-	14	1279	c.1195T>C	c.(1195-1197)Tgc>Cgc	p.C399R		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	399			C -> R (in dbSNP:rs10794323). {ECO:0000269|PubMed:12693554, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						AGGGCCACGCACCTGTTGATC	0.682													g|||	4616	0.921725	0.9894	0.7464	5008	,	,		16428	0.996		0.832	False		,,,				2504	0.9703																0			11							ARG/CYS	4223,177	114.6+/-152.6	2028,167,5	30.0	34.0	33.0		1195	-8.9	0.0	11	dbSNP_120	33	6798,1782	317.8+/-313.4	2686,1426,178	yes	missense	ANO9	NM_001012302.2	180	4714,1593,183	GG,GA,AA		20.7692,4.0227,15.0924	benign	399/783	428385	11021,1959	2200	4290	6490	418385	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1195T>C	11.37:g.428385A>G	ENSP00000332788:p.Cys399Arg		418385	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	1956	0.8956043956043956	485	0.9857723577235772	267	0.7375690607734806	572	1.0	632	0.8337730870712401	G	1.290	-0.607879	0.03717	0.959773	0.792308	ENSG00000185101	ENST00000332826	T	0.61392	0.11	4.43	-8.87	0.00792	.	3.473430	0.00846	N	0.001795	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.34700	-0.9818	9	0.10636	T	0.68	.	2.2513	0.04044	0.197:0.0952:0.3631:0.3447	rs10794323;rs59985239;rs10794323	100;399	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	R	399	ENSP00000332788:C399R	ENSP00000332788:C399R	C	-	1	0	ANO9	418385	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.497000	0.00969	-2.020000	0.00940	-4.222000	0.00009	TGC		0.682	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
CDHR5	53841	hgsc.bcm.edu	37	11	617420	617420	+	Silent	SNP	A	A	G	rs61877857	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:617420A>G	ENST00000358353.3	-	16	2791	c.2469T>C	c.(2467-2469)gaT>gaC	p.D823D	CDHR5_ENST00000349570.7_Silent_p.D629D|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000348655.6_5'Flank|CDHR5_ENST00000397542.2_Silent_p.D823D|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	823					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTCGCCCTCATCGCCGCTGC	0.687													G|||	1385	0.276558	0.5855	0.3026	5008	,	,		11465	0.0208		0.2684	False		,,,				2504	0.1125																0			11						-	,,	2269,2129		587,1095,517	30.0	28.0	29.0		2451,2469,1887	-1.4	0.0	11	dbSNP_129	29	2475,6121		360,1755,2183	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	947,2850,2700	GG,GA,AA		28.7925,48.4084,36.5092	,,	817/840,823/846,629/652	617420	4744,8250	2199	4298	6497	607420	SO:0001819	synonymous_variant	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2469T>C	11.37:g.617420A>G			607420	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1																																																																																				0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
MUC5B	727897	hgsc.bcm.edu	37	11	1271178	1271178	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:1271178T>C	ENST00000529681.1	+	31	13126	c.13068T>C	c.(13066-13068)acT>acC	p.T4356T	MUC5B_ENST00000447027.1_Silent_p.T4359T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4356	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCTCCACTCCGGAGACCA	0.652																																																	0			11											92.0	114.0	107.0					11																	1271178		2139	4228	6367	1227754	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13068T>C	11.37:g.1271178T>C			1227754	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
USP47	55031	hgsc.bcm.edu	37	11	11941794	11941794	+	Missense_Mutation	SNP	G	G	T	rs374867647		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:11941794G>T	ENST00000399455.2	+	10	1241	c.1121G>T	c.(1120-1122)cGg>cTg	p.R374L	USP47_ENST00000339865.5_Missense_Mutation_p.R286L|USP47_ENST00000527733.1_Missense_Mutation_p.R354L|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	374	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R286Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTGATGCACGGAAGGTAAAT	0.373																																																	1	Substitution - Missense(1)	skin(1)	11											118.0	108.0	111.0					11																	11941794		1839	4074	5913	11898370	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1121G>T	11.37:g.11941794G>T	ENSP00000382382:p.Arg374Leu		11898370	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	G	19.53	3.844873	0.71603	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.05081	3.5;3.5;3.5	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.04724	0.0128	N	0.04116	-0.275	0.80722	D	1	B;B	0.18968	0.032;0.026	B;B	0.22753	0.041;0.024	T	0.51764	-0.8664	10	0.40728	T	0.16	.	18.7283	0.91724	0.0:0.0:1.0:0.0	.	354;286	E9PM46;Q96K76-2	.;.	L	286;354;374;374	ENSP00000339957:R286L;ENSP00000433146:R354L;ENSP00000382382:R374L	ENSP00000339957:R286L	R	+	2	0	USP47	11898370	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.532000	0.85374	0.563000	0.77884	CGG		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
RCN1	5954	hgsc.bcm.edu	37	11	32118743	32118743	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:32118743A>G	ENST00000054950.3	+	2	601	c.308A>G	c.(307-309)gAg>gGg	p.E103G	RCN1_ENST00000532942.1_Missense_Mutation_p.E52G|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	103	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACTACTGAGGAGCTGAAAACC	0.408																																																	0			11											49.0	46.0	47.0					11																	32118743		2202	4299	6501	32075319	SO:0001583	missense	5954			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.308A>G	11.37:g.32118743A>G	ENSP00000054950:p.Glu103Gly		32075319	B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	a	20.3	3.964045	0.74131	.	.	ENSG00000049449	ENST00000532942;ENST00000054950;ENST00000400416	T;T	0.80393	-1.37;-1.37	5.03	5.03	0.67393	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	H	0.94582	3.555	0.80722	D	1	D;D	0.67145	0.996;0.96	D;P	0.74674	0.984;0.859	D	0.94249	0.7492	10	0.87932	D	0	-24.4942	14.7623	0.69614	1.0:0.0:0.0:0.0	.	103;52	Q15293;B7Z1M1	RCN1_HUMAN;.	G	52;103;103	ENSP00000436422:E52G;ENSP00000054950:E103G	ENSP00000054950:E103G	E	+	2	0	RCN1	32075319	1.000000	0.71417	0.994000	0.49952	0.482000	0.33219	9.297000	0.96120	1.886000	0.54624	0.528000	0.53228	GAG		0.408	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
TCP11L1	55346	hgsc.bcm.edu	37	11	33065440	33065440	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:33065440A>G	ENST00000334274.4	+	2	521	c.121A>G	c.(121-123)Aag>Gag	p.K41E	TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K41E|TCP11L1_ENST00000531632.2_Missense_Mutation_p.K41E	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	41						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						AAAAGCAATAAAGTCAGACTC	0.423																																																	0			11											185.0	186.0	186.0					11																	33065440		2202	4298	6500	33022016	SO:0001583	missense	55346			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.121A>G	11.37:g.33065440A>G	ENSP00000335595:p.Lys41Glu		33022016	D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.088961	0.20390	.	.	ENSG00000176148	ENST00000530419;ENST00000334274;ENST00000531632;ENST00000432887;ENST00000528898	T;T;T;T	0.22336	1.96;2.97;2.97;2.97	5.5	2.94	0.34122	.	1.173460	0.06142	N	0.672587	T	0.22704	0.0548	L	0.57536	1.79	0.09310	N	0.999999	B	0.23442	0.085	B	0.19666	0.026	T	0.38672	-0.9650	10	0.13108	T	0.6	-6.0409	10.9222	0.47171	0.6282:0.3718:0.0:0.0	.	41	Q9NUJ3	T11L1_HUMAN	E	41	ENSP00000436428:K41E;ENSP00000335595:K41E;ENSP00000433067:K41E;ENSP00000395070:K41E	ENSP00000335595:K41E	K	+	1	0	TCP11L1	33022016	0.042000	0.20092	0.002000	0.10522	0.451000	0.32288	1.674000	0.37544	0.891000	0.36235	0.402000	0.26972	AAG		0.423	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393	
PHF21A	51317	hgsc.bcm.edu	37	11	45967427	45967427	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:45967427A>G	ENST00000418153.2	-	14	1612	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000257821.4_Silent_p.V472V|PHF21A_ENST00000323180.6_Intron			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	471					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ACACAGGCTGAACAGGTGCAG	0.502																																																	0			11											91.0	109.0	103.0					11																	45967427		2149	4262	6411	45924003	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1413T>C	11.37:g.45967427A>G			45924003	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																				0.502	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
AMBRA1	55626	hgsc.bcm.edu	37	11	46564857	46564857	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:46564857G>A	ENST00000458649.2	-	7	1128	c.710C>T	c.(709-711)aCg>aTg	p.T237M	AMBRA1_ENST00000528950.1_Missense_Mutation_p.T237M|AMBRA1_ENST00000298834.3_Missense_Mutation_p.T237M|AMBRA1_ENST00000314845.3_Missense_Mutation_p.T237M|AMBRA1_ENST00000534300.1_Missense_Mutation_p.T237M|AMBRA1_ENST00000426438.1_Missense_Mutation_p.T237M|AMBRA1_ENST00000533727.1_Missense_Mutation_p.T237M			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	237					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAGGAGAGGCGTCCGGCGAAC	0.567																																																	0			11											104.0	83.0	90.0					11																	46564857		2201	4299	6500	46521433	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.710C>T	11.37:g.46564857G>A	ENSP00000415327:p.Thr237Met		46521433	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	G	16.06	3.014914	0.54468	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71461	-0.42;-0.57;-0.34;-0.47;-0.34;-0.47;-0.47	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.76071	0.972;0.987;0.987;0.982;0.987;0.982	T	0.80056	-0.1542	10	0.72032	D	0.01	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	237;237;237;237;237;237	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	M	237	ENSP00000318313:T237M;ENSP00000433372:T237M;ENSP00000431926:T237M;ENSP00000410899:T237M;ENSP00000298834:T237M;ENSP00000415327:T237M;ENSP00000433945:T237M	ENSP00000298834:T237M	T	-	2	0	AMBRA1	46521433	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.706000	0.98722	2.822000	0.97130	0.557000	0.71058	ACG		0.567	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
VWCE	220001	hgsc.bcm.edu	37	11	61050287	61050287	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:61050287A>G	ENST00000335613.5	-	6	1018	c.632T>C	c.(631-633)cTt>cCt	p.L211P		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	211	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					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						GTTGCCATGAAGGTGGAAGCC	0.567																																																	0			11											300.0	256.0	271.0					11																	61050287		2203	4299	6502	60806863	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.632T>C	11.37:g.61050287A>G	ENSP00000334186:p.Leu211Pro		60806863	A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284398	0.80803	.	.	ENSG00000167992	ENST00000335613	D	0.91631	-2.88	5.5	5.5	0.81552	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.48767	D	0.000167	D	0.94198	0.8138	L	0.42632	1.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94828	0.7993	10	0.72032	D	0.01	.	15.2875	0.73838	1.0:0.0:0.0:0.0	.	211	Q96DN2	VWCE_HUMAN	P	211	ENSP00000334186:L211P	ENSP00000301770:L211P	L	-	2	0	VWCE	60806863	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	6.704000	0.74639	2.082000	0.62665	0.533000	0.62120	CTT		0.567	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
MEN1	4221	hgsc.bcm.edu	37	11	64571985	64571985	+	Missense_Mutation	SNP	T	T	C	rs121913035		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:64571985T>C	ENST00000337652.1	-	10	2172	c.1669A>G	c.(1669-1671)Act>Gct	p.T557A	MEN1_ENST00000377316.2_Missense_Mutation_p.T497A|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000312049.6_Missense_Mutation_p.T552A|MEN1_ENST00000315422.4_Missense_Mutation_p.T552A|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.T557A|MEN1_ENST00000377326.3_Missense_Mutation_p.T552A|MEN1_ENST00000394376.1_Missense_Mutation_p.T557A|MEN1_ENST00000443283.1_Missense_Mutation_p.T557A|MEN1_ENST00000377321.1_Missense_Mutation_p.T517A|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.T557A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	557			T -> S (in adrenal adenoma; somatic). {ECO:0000269|PubMed:10647896}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.T552S(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCTGGAAAGTGAGCACTGGA	0.617			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	1	Substitution - Missense(1)	adrenal_gland(1)	11											131.0	112.0	119.0					11																	64571985		2201	4297	6498	64328561	SO:0001583	missense	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1669A>G	11.37:g.64571985T>C	ENSP00000337088:p.Thr557Ala		64328561	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622022	0.46840	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85	4.35	4.35	0.52113	.	0.302605	0.32041	N	0.006671	D	0.97517	0.9187	L	0.38175	1.15	0.33262	D	0.559896	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	D	0.99948	1.1492	10	0.18276	T	0.48	-5.9355	11.8603	0.52461	0.0:0.0:0.0:1.0	.	552;517;557	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	A	497;517;552;552;552;557;557;557;557;557	ENSP00000366533:T497A;ENSP00000366538:T517A;ENSP00000366543:T552A;ENSP00000308975:T552A;ENSP00000323747:T552A;ENSP00000337088:T557A;ENSP00000377901:T557A;ENSP00000377899:T557A;ENSP00000396940:T557A;ENSP00000366530:T557A	ENSP00000308975:T552A	T	-	1	0	MEN1	64328561	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.645000	0.37238	1.749000	0.51849	0.374000	0.22700	ACT		0.617	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
SSSCA1	10534	hgsc.bcm.edu	37	11	65339171	65339171	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:65339171A>G	ENST00000309328.3	+	4	628	c.566A>G	c.(565-567)gAg>gGg	p.E189G	SSSCA1_ENST00000527920.1_Intron|FAM89B_ENST00000449319.2_5'Flank|FAM89B_ENST00000530349.1_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000531405.1_Missense_Mutation_p.E152G|FAM89B_ENST00000316409.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	189					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCATGTGCGGAGGCCCTGCGC	0.562																																																	0			11											32.0	27.0	29.0					11																	65339171		2201	4296	6497	65095747	SO:0001583	missense	10534			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.566A>G	11.37:g.65339171A>G	ENSP00000312318:p.Glu189Gly		65095747		Missense_Mutation	SNP	ENST00000309328.3	37	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.794149	0.70452	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.54279	0.58;0.63	4.35	4.35	0.52113	.	0.257192	0.39759	N	0.001270	T	0.43590	0.1254	L	0.55481	1.735	0.80722	D	1	P	0.34662	0.462	B	0.23275	0.045	T	0.51379	-0.8713	10	0.72032	D	0.01	-15.081	11.55	0.50715	1.0:0.0:0.0:0.0	.	189	O60232	SSA27_HUMAN	G	189;152;183	ENSP00000312318:E189G;ENSP00000435432:E183G	ENSP00000312318:E189G	E	+	2	0	SSSCA1	65095747	1.000000	0.71417	0.976000	0.42696	0.881000	0.50899	5.674000	0.68117	1.838000	0.53458	0.459000	0.35465	GAG		0.562	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396	
CTSF	8722	hgsc.bcm.edu	37	11	66335548	66335548	+	Silent	SNP	A	A	G	rs1127894	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:66335548A>G	ENST00000310325.5	-	2	328	c.219T>C	c.(217-219)ggT>ggC	p.G73G	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCGACCCCTGACCCGCCTGGA	0.682													G|||	2918	0.582668	0.8767	0.415	5008	,	,		10960	0.5407		0.5378	False		,,,				2504	0.3937																0			11											14.0	23.0	20.0					11																	66335548		2196	4292	6488	66092124	SO:0001819	synonymous_variant	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.219T>C	11.37:g.66335548A>G			66092124	B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.682	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
ATM	472	hgsc.bcm.edu	37	11	108180981	108180981	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:108180981A>G	ENST00000452508.2	+	40	6046	c.5857A>G	c.(5857-5859)Aca>Gca	p.T1953A	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T1953A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1953			T -> R (in B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10397742}.		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)	p.T1953A(1)		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)	TGCTCACTTTACAGCTTTACT	0.328			"""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"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											83.0	85.0	85.0					11																	108180981		2201	4298	6499	107686191	SO:0001583	missense	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.5857A>G	11.37:g.108180981A>G	ENSP00000388058:p.Thr1953Ala		107686191	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889566	0.91889	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.77358	-1.09;-1.09	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.88153	0.2852	10	0.46703	T	0.11	.	15.9668	0.79979	1.0:0.0:0.0:0.0	.	605;1953	E9PFP9;Q13315	.;ATM_HUMAN	A	1953	ENSP00000278616:T1953A;ENSP00000388058:T1953A	ENSP00000278616:T1953A	T	+	1	0	ATM	107686191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.608000	0.90895	2.173000	0.68751	0.455000	0.32223	ACA		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
DIXDC1	85458	hgsc.bcm.edu	37	11	111853105	111853105	+	Splice_Site	SNP	A	A	G	rs367628788|rs200882091		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:111853105A>G	ENST00000440460.2	+	7	1107		c.e7+1		DIXDC1_ENST00000315253.5_Splice_Site|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1						camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GCGGCCAGGGAGCCTGGAACC	0.418											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											40.0	43.0	42.0					11																	111853105		1849	4090	5939	111358315	SO:0001630	splice_region_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.810+1A>G	11.37:g.111853105A>G		1438	111358315	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37		.	.	.	.	.	.	.	.	.	.	A	19.90	3.913479	0.72983	.	.	ENSG00000150764	ENST00000440460;ENST00000440460;ENST00000315253;ENST00000315253	.	.	.	6.17	4.99	0.66335	.	.	.	.	.	.	.	.	N	0.14661	0.345	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2465	0.54574	0.8583:0.1417:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DIXDC1	111358315	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.317000	0.59184	2.371000	0.80710	0.533000	0.62120	.		0.418	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954	Intron
BSX	390259	hgsc.bcm.edu	37	11	122848537	122848537	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:122848537G>A	ENST00000343035.2	-	3	570	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	174					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D174D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTTTGGGTTCGTCTTGGCTTT	0.592																																																	1	Substitution - coding silent(1)	large_intestine(1)	11											63.0	64.0	64.0					11																	122848537		1893	4127	6020	122353747	SO:0001819	synonymous_variant	390259				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.522C>T	11.37:g.122848537G>A			122353747		Silent	SNP	ENST00000343035.2	37	CCDS41728.1																																																																																				0.592	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169	
LRRC16A	55604	hgsc.bcm.edu	37	6	25581618	25581618	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:25581618C>G	ENST00000329474.6	+	31	3325	c.2957C>G	c.(2956-2958)aCc>aGc	p.T986S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	986	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.T986I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAACACTTTACCAAGTTAAGG	0.537																																																	1	Substitution - Missense(1)	central_nervous_system(1)	6											38.0	39.0	39.0					6																	25581618		1882	4097	5979	25689597	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2957C>G	6.37:g.25581618C>G	ENSP00000331983:p.Thr986Ser		25689597	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736419	0.89482	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.56611	0.45	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.70200	-0.4937	10	0.62326	D	0.03	.	19.9628	0.97258	0.0:1.0:0.0:0.0	.	986;986;986	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	S	986	ENSP00000331983:T986S	ENSP00000331983:T986S	T	+	2	0	LRRC16A	25689597	1.000000	0.71417	0.992000	0.48379	0.931000	0.56810	7.166000	0.77553	2.695000	0.91970	0.563000	0.77884	ACC		0.537	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
PRRC2A	7916	hgsc.bcm.edu	37	6	31599709	31599709	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:31599709A>G	ENST00000376033.2	+	16	3493	c.3259A>G	c.(3259-3261)Aca>Gca	p.T1087A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1087A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1087	4 X 57 AA type A repeats.		T -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGCCAGCGAGACACGGAGCGA	0.627																																																	0			6											29.0	33.0	31.0					6																	31599709		1508	2706	4214	31707688	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3259A>G	6.37:g.31599709A>G	ENSP00000365201:p.Thr1087Ala		31707688	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.872097	0.33069	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01981	4.52;4.52	4.88	4.88	0.63580	.	0.000000	0.53938	D	0.000046	T	0.05547	0.0146	L	0.59436	1.845	0.53005	D	0.999961	D	0.69078	0.997	D	0.75020	0.985	T	0.15321	-1.0441	10	0.87932	D	0	-9.5316	13.6117	0.62083	1.0:0.0:0.0:0.0	.	1087	P48634	PRC2A_HUMAN	A	1087;1087;312	ENSP00000365175:T1087A;ENSP00000365201:T1087A	ENSP00000365175:T1087A	T	+	1	0	PRRC2A	31707688	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.754000	0.91642	2.071000	0.62044	0.533000	0.62120	ACA		0.627	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
RING1	6015	hgsc.bcm.edu	37	6	33177820	33177820	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:33177820G>A	ENST00000374656.4	+	4	576	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	123	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CATCAAGACCGAGTGCTTATC	0.582																																																	0			6											67.0	58.0	61.0					6																	33177820		2203	4300	6503	33285798	SO:0001583	missense	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.368G>A	6.37:g.33177820G>A	ENSP00000363787:p.Arg123Gln		33285798	A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360473	0.61403	.	.	ENSG00000204227	ENST00000374656	D	0.83837	-1.77	4.37	4.37	0.52481	.	0.078879	0.51477	D	0.000099	T	0.63710	0.2534	L	0.31294	0.92	0.45580	D	0.998528	P	0.47604	0.898	B	0.38106	0.265	T	0.69723	-0.5068	10	0.41790	T	0.15	-32.2537	14.4589	0.67435	0.0:0.0:1.0:0.0	.	123	Q06587	RING1_HUMAN	Q	123	ENSP00000363787:R123Q	ENSP00000363787:R123Q	R	+	2	0	RING1	33285798	0.998000	0.40836	0.961000	0.40146	0.905000	0.53344	7.357000	0.79456	2.269000	0.75478	0.542000	0.68232	CGA		0.582	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2		
ITPR3	3710	hgsc.bcm.edu	37	6	33650367	33650367	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:33650367C>A	ENST00000374316.5	+	35	5603	c.4543C>A	c.(4543-4545)Cag>Aag	p.Q1515K	ITPR3_ENST00000605930.1_Missense_Mutation_p.Q1515K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1515					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCCGTGGCTACAGCAGCAGCA	0.652																																																	0			6											49.0	47.0	48.0					6																	33650367		2203	4300	6503	33758345	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4543C>A	6.37:g.33650367C>A	ENSP00000363435:p.Gln1515Lys		33758345	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907068	0.17833	.	.	ENSG00000096433	ENST00000374316	T	0.62232	0.04	5.29	5.29	0.74685	.	0.121419	0.56097	D	0.000021	T	0.34483	0.0899	L	0.36672	1.1	0.45415	D	0.998392	B	0.22683	0.073	B	0.24701	0.055	T	0.42999	-0.9418	10	0.02654	T	1	-32.1764	18.9236	0.92536	0.0:1.0:0.0:0.0	.	1515	Q14573	ITPR3_HUMAN	K	1515	ENSP00000363435:Q1515K	ENSP00000363435:Q1515K	Q	+	1	0	ITPR3	33758345	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.774000	0.62339	2.474000	0.83562	0.462000	0.41574	CAG		0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
RIMS1	22999	hgsc.bcm.edu	37	6	73102485	73102485	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:73102485C>T	ENST00000521978.1	+	31	4591	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665C|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354C|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1380C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1531					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTTGTTGGCCGCCAAACCCT	0.388																																																	0			6											86.0	82.0	83.0					6																	73102485		1840	4103	5943	73159206	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4591C>T	6.37:g.73102485C>T	ENSP00000428417:p.Arg1531Cys		73159206	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.683389|3.683389	0.68157|0.68157	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.43294	.|0.95;2.12;2.05;2.13;2.32;2.35;2.35;2.0;2.07;2.34;2.26;1.41;2.26;1.71;1.67;1.96	5.5|5.5	2.56|2.56	0.30785|0.30785	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.58552|0.58552	0.2130|0.2130	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;0.996;0.992;0.969;0.996;0.998;0.994;1.0;0.995;0.996;0.979;0.998;0.979	T|T	0.69000|0.69000	-0.5261|-0.5261	5|10	.|0.87932	.|D	.|0	-10.7348|-10.7348	14.3795|14.3795	0.66902|0.66902	0.467:0.533:0.0:0.0|0.467:0.533:0.0:0.0	.|.	.|155;337;665;656;1380;851;1130;434;1210;1314;607;1354;1531	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	L|C	876|1354;1380;1354;1314;1210;1130;1380;1314;1210;1181;1130;1531;851;656;599;696;665;579;337;58	.|ENSP00000430101:R1354C;ENSP00000275037:R1314C;ENSP00000264839:R1380C;ENSP00000429959:R1314C;ENSP00000430408:R1210C;ENSP00000430502:R1181C;ENSP00000430932:R1130C;ENSP00000428417:R1531C;ENSP00000385649:R851C;ENSP00000428328:R656C;ENSP00000411235:R599C;ENSP00000389503:R696C;ENSP00000428367:R665C;ENSP00000359448:R579C;ENSP00000439730:R337C;ENSP00000402273:R58C	.|ENSP00000264839:R1380C	P|R	+|+	2|1	0|0	RIMS1|RIMS1	73159206|73159206	0.877000|0.877000	0.30153|0.30153	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	1.520000|1.520000	0.35899|0.35899	0.646000|0.646000	0.30693|0.30693	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
PHIP	55023	hgsc.bcm.edu	37	6	79726343	79726343	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:79726343G>A	ENST00000275034.4	-	13	1320	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	385					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTCCCATCACGACTGCCACTT	0.403																																																	0			6											139.0	137.0	137.0					6																	79726343		2203	4300	6503	79783062	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1153C>T	6.37:g.79726343G>A	ENSP00000275034:p.Arg385Cys		79783062	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.878102	0.51801	.	.	ENSG00000146247	ENST00000275034	T	0.63096	-0.02	5.62	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.069892	0.64402	N	0.000011	T	0.37046	0.0989	N	0.03084	-0.415	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	T	0.43925	-0.9361	9	.	.	.	-5.8313	8.3257	0.32156	0.0736:0.0:0.6686:0.2578	.	385;385	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	385	ENSP00000275034:R385C	.	R	-	1	0	PHIP	79783062	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.256000	0.43231	1.391000	0.46566	-0.119000	0.15052	CGT		0.403	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
AHI1	54806	hgsc.bcm.edu	37	6	135769531	135769531	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:135769531G>A	ENST00000367800.4	-	10	1739	c.1523C>T	c.(1522-1524)cCa>cTa	p.P508L	AHI1_ENST00000457866.2_Missense_Mutation_p.P508L|AHI1_ENST00000327035.6_Missense_Mutation_p.P508L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	508					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AACACTTAATGGGGATCGAGG	0.403																																																	0			6											140.0	132.0	134.0					6																	135769531		1885	4108	5993	135811224	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1523C>T	6.37:g.135769531G>A	ENSP00000356774:p.Pro508Leu		135811224	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.88|10.88	1.475277|1.475277	0.26511|0.26511	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.|T;T;T;T	.|0.58210	.|0.4;0.4;0.4;0.35	5.89|5.89	4.7|4.7	0.59300|0.59300	.|.	.|0.641721	.|0.16893	.|N	.|0.195247	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.08118|0.08118	0|0	0.44380|0.44380	D|D	0.997286|0.997286	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.11792|0.11792	-1.0573|-1.0573	5|10	.|0.30078	.|T	.|0.28	-3.728|-3.728	3.9684|3.9684	0.09443|0.09443	0.1188:0.0648:0.2475:0.5689|0.1188:0.0648:0.2475:0.5689	.|.	.|508;508	.|Q8N157-2;Q8N157	.|.;AHI1_HUMAN	Y|L	8|508	.|ENSP00000356774:P508L;ENSP00000388650:P508L;ENSP00000265602:P508L;ENSP00000322478:P508L	.|ENSP00000265602:P508L	H|P	-|-	1|2	0|0	AHI1|AHI1	135811224|135811224	0.803000|0.803000	0.28956|0.28956	0.019000|0.019000	0.16419|0.16419	0.036000|0.036000	0.12997|0.12997	1.109000|1.109000	0.31135|0.31135	0.462000|0.462000	0.27095|0.27095	-0.346000|-0.346000	0.07831|0.07831	CAT|CCA		0.403	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
FNDC1	84624	hgsc.bcm.edu	37	6	159654180	159654180	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:159654180A>G	ENST00000297267.9	+	11	2836	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	FNDC1_ENST00000340366.6_Missense_Mutation_p.E816G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	879					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGGAGACGAGGAGGATGAG	0.612																																																	0			6											25.0	32.0	30.0					6																	159654180		1974	4155	6129	159574170	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2636A>G	6.37:g.159654180A>G	ENSP00000297267:p.Glu879Gly		159574170	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835360	0.32421	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08896	3.04;3.85	5.33	-3.39	0.04868	.	1.342850	0.04820	N	0.436847	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.46652	-0.9176	10	0.13108	T	0.6	0.0395	2.3807	0.04353	0.574:0.1233:0.1076:0.1951	.	816;879	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	G	879;816	ENSP00000297267:E879G;ENSP00000342460:E816G	ENSP00000297267:E879G	E	+	2	0	FNDC1	159574170	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	0.146000	0.16180	-0.941000	0.03700	-0.912000	0.02778	GAG		0.612	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
DACT2	168002	hgsc.bcm.edu	37	6	168708804	168708804	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:168708804C>T	ENST00000366795.3	-	4	1721	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	DACT2_ENST00000607983.1_Missense_Mutation_p.G137R|DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Missense_Mutation_p.G375R	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	545					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CGCTGGAGCCCGCCCCTCCCT	0.706																																																	0			6											11.0	17.0	15.0					6																	168708804		691	1587	2278	168451653	SO:0001583	missense	168002			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1633G>A	6.37:g.168708804C>T	ENSP00000355760:p.Gly545Arg		168451653	Q2NKJ2|Q569G0|Q8WYW2	Missense_Mutation	SNP	ENST00000366795.3	37	CCDS47519.1	.	.	.	.	.	.	.	.	.	.	C	6.423	0.446263	0.12164	.	.	ENSG00000164488	ENST00000366795	T	0.40756	1.02	3.75	0.59	0.17458	.	1.111890	0.06899	N	0.805689	T	0.11793	0.0287	L	0.44542	1.39	0.09310	N	1	P	0.36647	0.563	B	0.26969	0.075	T	0.25467	-1.0131	10	0.56958	D	0.05	-3.678	2.8654	0.05600	0.0:0.3604:0.2787:0.3609	.	545	Q5SW24	DACT2_HUMAN	R	545	ENSP00000355760:G545R	ENSP00000355760:G545R	G	-	1	0	DACT2	168451653	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.042000	0.13949	0.257000	0.21650	0.555000	0.69702	GGG		0.706	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043193.1		
C17orf97	400566	hgsc.bcm.edu	37	17	263652	263652	+	Missense_Mutation	SNP	G	G	A	rs111543298	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:263652G>A	ENST00000360127.6	+	2	1034	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	370	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.E340K(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.697																																																	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	17																																								263998	SO:0001583	missense	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1018G>A	17.37:g.263652G>A	ENSP00000353245:p.Glu340Lys		263998	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456157	0.01071	.	.	ENSG00000187624	ENST00000360127	T	0.30448	1.53	2.05	-4.1	0.03940	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16660	-1.0395	9	0.20046	T	0.44	.	1.1152	0.01713	0.4009:0.1974:0.266:0.1357	.	340	Q6ZQX7-4	.	K	340	ENSP00000353245:E340K	ENSP00000353245:E340K	E	+	1	0	C17orf97	263998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.847000	0.00351	-2.613000	0.00444	-1.026000	0.02426	GAG		0.697	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
VPS53	55275	hgsc.bcm.edu	37	17	617942	617942	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:617942T>C	ENST00000571805.1	-	1	144	c.8A>G	c.(7-9)gAg>gGg	p.E3G	VPS53_ENST00000291074.5_Missense_Mutation_p.E3G|VPS53_ENST00000437048.2_Missense_Mutation_p.E3G|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.E3G|VPS53_ENST00000574029.1_Missense_Mutation_p.E3G			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	3					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTCCTCCTCCTCCATCATTCC	0.701																																																	0			17											58.0	60.0	59.0					17																	617942		2203	4300	6503	564692	SO:0001583	missense	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.8A>G	17.37:g.617942T>C	ENSP00000459312:p.Glu3Gly		564692	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	T	23.6	4.434824	0.83885	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.54675	1.31;1.16;0.56;1.27	5.31	5.31	0.75309	.	0.092655	0.64402	D	0.000001	T	0.44603	0.1301	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.40731	0.608;0.728;0.608;0.728	B;B;B;B	0.36186	0.109;0.16;0.109;0.219	T	0.50676	-0.8800	10	0.66056	D	0.02	-24.931	13.2127	0.59834	0.0:0.0:0.0:1.0	.	3;3;3;3	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	G	3	ENSP00000401435:E3G;ENSP00000291074:E3G;ENSP00000384294:E3G;ENSP00000373692:E3G	ENSP00000291074:E3G	E	-	2	0	VPS53	564692	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.536000	0.73842	2.002000	0.58637	0.482000	0.46254	GAG		0.701	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
OR1G1	8390	hgsc.bcm.edu	37	17	3030389	3030389	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:3030389C>G	ENST00000328890.2	-	1	486	c.457G>C	c.(457-459)Gcc>Ccc	p.A153P		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	153					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAGTGGAGGGCATTCATGATC	0.512																																					Colon(127;1481 1654 8243 19426 50557)												0			17											141.0	125.0	130.0					17																	3030389		2203	4300	6503	2977139	SO:0001583	missense	8390			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.457G>C	17.37:g.3030389C>G	ENSP00000331545:p.Ala153Pro		2977139	Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718075	0.48622	.	.	ENSG00000183024	ENST00000328890	T	0.00137	8.68	4.54	-2.52	0.06346	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.64170	1.965	0.09310	N	1	P	0.42941	0.794	P	0.45998	0.5	T	0.22871	-1.0204	9	0.52906	T	0.07	.	3.1808	0.06584	0.1297:0.1719:0.1279:0.5705	.	153	P47890	OR1G1_HUMAN	P	153	ENSP00000331545:A153P	ENSP00000331545:A153P	A	-	1	0	OR1G1	2977139	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-0.446000	0.06837	-0.249000	0.09569	0.530000	0.56133	GCC		0.512	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
NLRP1	22861	hgsc.bcm.edu	37	17	5462052	5462052	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:5462052T>C	ENST00000572272.1	-	4	1963	c.1964A>G	c.(1963-1965)aAg>aGg	p.K655R	NLRP1_ENST00000262467.5_Missense_Mutation_p.K655R|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.K655R|NLRP1_ENST00000269280.4_Missense_Mutation_p.K655R|NLRP1_ENST00000345221.3_Missense_Mutation_p.K655R|NLRP1_ENST00000354411.3_Missense_Mutation_p.K655R			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	655					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTCTAGCGTCTTTTCCAAATC	0.448																																																	0			17											145.0	127.0	133.0					17																	5462052		2203	4300	6503	5402776	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1964A>G	17.37:g.5462052T>C	ENSP00000460475:p.Lys655Arg		5402776	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	7.850	0.723828	0.15439	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.72394	-0.65;-0.65;-0.63;-0.61;-0.63	4.11	-5.56	0.02529	.	1.319690	0.05449	N	0.549209	T	0.49762	0.1576	L	0.37897	1.145	0.09310	N	1	B;B;B;B;B	0.28880	0.2;0.2;0.126;0.2;0.226	B;B;B;B;B	0.30179	0.112;0.112;0.035;0.112;0.063	T	0.37197	-0.9716	10	0.13108	T	0.6	.	0.5195	0.00609	0.4144:0.214:0.15:0.2215	.	655;655;655;655;655	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	R	655	ENSP00000442029:K655R;ENSP00000262467:K655R;ENSP00000269280:K655R;ENSP00000346390:K655R;ENSP00000324366:K655R	ENSP00000262467:K655R	K	-	2	0	NLRP1	5402776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.006000	0.12833	-1.289000	0.02375	-0.417000	0.06048	AAG		0.448	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
PITPNM3	83394	hgsc.bcm.edu	37	17	6377779	6377779	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:6377779G>A	ENST00000262483.8	-	10	1318	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	PITPNM3_ENST00000576664.1_5'Flank|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R375W	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	411	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACCGTCCTCCGCATGGCCAGG	0.667																																																	0			17											40.0	35.0	36.0					17																	6377779		2203	4299	6502	6318503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1231C>T	17.37:g.6377779G>A	ENSP00000262483:p.Arg411Trp		6318503	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266868	0.80469	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.63580	-0.02;-0.05	5.13	1.59	0.23543	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.90082	3.085	0.50813	D	0.999893	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82348	-0.0502	10	0.87932	D	0	-19.2105	11.3745	0.49719	0.0:0.0:0.3342:0.6658	.	375;411	F8WEW5;Q9BZ71	.;PITM3_HUMAN	W	411;375	ENSP00000262483:R411W;ENSP00000407882:R375W	ENSP00000262483:R411W	R	-	1	2	PITPNM3	6318503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.285000	0.43487	0.487000	0.27698	0.563000	0.77884	CGG		0.667	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
C17orf49	124944	hgsc.bcm.edu	37	17	6919186	6919186	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:6919186A>G	ENST00000439424.2	+	3	286	c.210A>G	c.(208-210)gaA>gaG	p.E70E	C17orf49_ENST00000546495.1_Silent_p.E70E|MIR497HG_ENST00000572453.1_RNA|AC040977.1_ENST00000593646.1_5'Flank|MIR497HG_ENST00000443997.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.N111S|C17orf49_ENST00000552402.1_Intron|C17orf49_ENST00000552775.1_Silent_p.E44E|C17orf49_ENST00000546760.1_Silent_p.E70E|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000385056.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	70	SANT.				chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						TCATCAAGGAACGGACAGTGT	0.552																																																	0			17											93.0	74.0	81.0					17																	6919186		2203	4300	6503	6859910	SO:0001819	synonymous_variant	124944			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.210A>G	17.37:g.6919186A>G			6859910	B4DIV3|C9J4G0|E9PB29	Silent	SNP	ENST00000439424.2	37	CCDS32542.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577282	0.28092	.	.	ENSG00000161939	ENST00000547302	.	.	.	4.57	3.45	0.39498	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.37934	-0.9684	3	.	.	.	-3.1867	4.3385	0.11097	0.6672:0.2235:0.1093:0.0	.	.	.	.	S	111	.	.	N	+	2	0	C17orf49	6859910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.602000	0.36783	1.900000	0.55004	0.460000	0.39030	AAC		0.552	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407666.1	NM_174893	
TP53	7157	hgsc.bcm.edu	37	17	7578224	7578224	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:7578224T>C	ENST00000269305.4	-	6	814	c.625A>G	c.(625-627)Aga>Gga	p.R209G	TP53_ENST00000455263.2_Missense_Mutation_p.R209G|TP53_ENST00000359597.4_Missense_Mutation_p.R209G|TP53_ENST00000445888.2_Missense_Mutation_p.R209G|TP53_ENST00000420246.2_Missense_Mutation_p.R209G|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R209G	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	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (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.R209fs*6(27)|p.R209*(18)|p.0?(8)|p.?(5)|p.R77*(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R116*(2)|p.D208fs*1(1)|p.D208fs*38(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.R209R(1)|p.D207_V216del10(1)|p.R116fs*6(1)|p.R209fs*5(1)|p.R209fs*36(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*7(1)|p.R77fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGTGTTTCTGTCATCCAAA	0.532		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"""	79	Deletion - Frameshift(37)|Substitution - Nonsense(22)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)|Substitution - coding silent(1)	lung(17)|oesophagus(7)|upper_aerodigestive_tract(6)|biliary_tract(6)|prostate(5)|breast(5)|urinary_tract(4)|bone(4)|stomach(3)|soft_tissue(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|ovary(3)|salivary_gland(2)|pancreas(2)|thyroid(1)|liver(1)|skin(1)	17	GRCh37	CM971504	TP53	M							143.0	127.0	132.0					17																	7578224		2203	4300	6503	7518949	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.625A>G	17.37:g.7578224T>C	ENSP00000269305:p.Arg209Gly		7518949	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	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205485	0.39003	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.41	-4.11	0.03928	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.073180	0.07006	N	0.824273	D	0.97848	0.9293	L	0.35487	1.065	0.23445	N	0.997664	B;B;B;B;B;B;B	0.19583	0.037;0.0;0.021;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B	0.24848	0.056;0.002;0.035;0.002;0.003;0.006;0.002	D	0.99568	1.0970	10	0.30078	T	0.28	0.8848	2.5858	0.04830	0.1366:0.275:0.4156:0.1728	.	170;209;209;116;209;209;209	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	209;209;209;209;209;209;198;116;77;116;77	ENSP00000410739:R209G;ENSP00000352610:R209G;ENSP00000269305:R209G;ENSP00000398846:R209G;ENSP00000391127:R209G;ENSP00000391478:R209G;ENSP00000425104:R77G;ENSP00000423862:R116G	ENSP00000269305:R209G	R	-	1	2	TP53	7518949	0.000000	0.05858	0.005000	0.12908	0.450000	0.32258	-0.245000	0.08890	-0.585000	0.05905	0.533000	0.62120	AGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MAP2K4	6416	hgsc.bcm.edu	37	17	12028633	12028633	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:12028633C>T	ENST00000353533.5	+	8	899	c.836C>T	c.(835-837)gCa>gTa	p.A279V	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.A290V	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> T (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GACCCAAGCGCATCACGACAA	0.428			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(4)|ovary(4)|lung(2)|biliary_tract(1)|large_intestine(1)|pancreas(1)	17											229.0	180.0	196.0					17																	12028633		2203	4300	6503	11969358	SO:0001583	missense	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.836C>T	17.37:g.12028633C>T	ENSP00000262445:p.Ala279Val		11969358	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386846	0.61956	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.73047	-0.64;-0.71	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	N	0.20845	0.615	0.80722	D	1	B;B;B	0.32365	0.367;0.067;0.082	B;B;B	0.37550	0.253;0.039;0.065	T	0.58053	-0.7704	10	0.28530	T	0.3	.	17.8064	0.88602	0.0:1.0:0.0:0.0	.	151;290;279	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	V	279;290;256;151	ENSP00000262445:A279V;ENSP00000410402:A290V	ENSP00000262445:A279V	A	+	2	0	MAP2K4	11969358	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.578000	0.82498	2.814000	0.96858	0.563000	0.77884	GCA		0.428	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
HS3ST3A1	9955	hgsc.bcm.edu	37	17	13400068	13400068	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:13400068G>A	ENST00000284110.1	-	2	1464	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R21W	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	223					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGGCCTCCCGCGTGACGAAG	0.617																																																	0			17											68.0	84.0	79.0					17																	13400068		2202	4300	6502	13340793	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.667C>T	17.37:g.13400068G>A	ENSP00000284110:p.Arg223Trp		13340793	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040396	0.55003	.	.	ENSG00000153976	ENST00000284110	T	0.44482	0.92	5.32	4.27	0.50696	Sulfotransferase domain (1);	0.138859	0.42682	U	0.000680	T	0.56863	0.2014	M	0.69358	2.11	0.44702	D	0.997697	D	0.89917	1.0	P	0.62491	0.903	T	0.58864	-0.7561	10	0.87932	D	0	.	11.3364	0.49507	0.0:0.0:0.6674:0.3326	.	223	Q9Y663	HS3SA_HUMAN	W	223	ENSP00000284110:R223W	ENSP00000284110:R223W	R	-	1	2	HS3ST3A1	13340793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.053000	0.49901	2.873000	0.98535	0.563000	0.77884	CGG		0.617	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
SLC13A2	9058	hgsc.bcm.edu	37	17	26824244	26824244	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:26824244A>G	ENST00000314669.5	+	12	2156	c.1736A>G	c.(1735-1737)cAg>cGg	p.Q579R	SLC13A2_ENST00000545060.1_Missense_Mutation_p.Q536R|SLC13A2_ENST00000444914.3_Missense_Mutation_p.Q628R|SLC13A2_ENST00000537681.1_Missense_Mutation_p.Q508R	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	579					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACCACAGCCCAGTGCCTGCCA	0.627																																																	0			17											107.0	96.0	100.0					17																	26824244		2203	4300	6503	23848371	SO:0001583	missense	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1736A>G	17.37:g.26824244A>G	ENSP00000316202:p.Gln579Arg		23848371	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	A	7.327	0.618102	0.14129	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.70399	-0.17;-0.18;-0.47;-0.48	5.72	1.89	0.25635	.	3.689560	0.00508	N	0.000179	T	0.61123	0.2322	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.20988	0.05;0.017;0.05;0.029	B;B;B;B	0.20767	0.031;0.028;0.031;0.015	T	0.35674	-0.9779	10	0.15952	T	0.53	-7.3383	7.1411	0.25556	0.5439:0.3307:0.0:0.1254	.	536;628;508;579	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	R	579;628;536;508	ENSP00000316202:Q579R;ENSP00000392411:Q628R;ENSP00000441935:Q536R;ENSP00000440802:Q508R	ENSP00000316202:Q579R	Q	+	2	0	SLC13A2	23848371	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.758000	0.04766	0.411000	0.25702	0.459000	0.35465	CAG		0.627	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
MYO18A	399687	hgsc.bcm.edu	37	17	27416980	27416980	+	Splice_Site	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:27416980T>C	ENST00000527372.1	-	37	5705	c.5525A>G	c.(5524-5526)gAg>gGg	p.E1842G	MYO18A_ENST00000531253.1_Splice_Site_p.E1842G|MYO18A_ENST00000354329.4_Splice_Site_p.E1842G|MYO18A_ENST00000533112.1_Splice_Site_p.E1805G|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1842					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGAACCCACCTCCAGCCGTTT	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0			17											57.0	64.0	62.0					17																	27416980		2049	4175	6224	24441106	SO:0001630	splice_region_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5526+1A>G	17.37:g.27416980T>C			24441106	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.0|26.0	4.699537|4.699537	0.88830|0.88830	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	D;D;D;D|.	0.91011|.	-2.45;-2.77;-2.43;-2.45|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75391|0.75391	0.3843|0.3843	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.997;0.997;0.997|.	T|T	0.77151|0.77151	-0.2693|-0.2693	10|5	0.87932|.	D|.	0|.	.|.	15.0476|15.0476	0.71838|0.71838	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1445;1805;1842;1842|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	G|G	1842;1805;1805;1842;1842;738;738;1445;123|105	ENSP00000346291:E1842G;ENSP00000435932:E1805G;ENSP00000434228:E1842G;ENSP00000437073:E1842G|.	ENSP00000346291:E1842G|.	E|R	-|-	2|1	0|2	MYO18A|MYO18A	24441106|24441106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	5.870000|5.870000	0.69620|0.69620	2.104000|2.104000	0.64026|0.64026	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation
MYO18A	399687	hgsc.bcm.edu	37	17	27448723	27448723	+	Missense_Mutation	SNP	C	C	T	rs373037295		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:27448723C>T	ENST00000527372.1	-	5	1393	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	MYO18A_ENST00000531253.1_Missense_Mutation_p.D405N|MYO18A_ENST00000354329.4_Missense_Mutation_p.D405N|MYO18A_ENST00000533112.1_Missense_Mutation_p.D405N	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	405	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCAGACGGTCGCAGGAGGGA	0.632																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0			17						C	ASN/ASP,ASN/ASP	1,4289		0,1,2144	16.0	20.0	19.0		1213,1213	5.4	1.0	17		19	0,8440		0,0,4220	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	23,23	0,1,6364	TT,TC,CC		0.0,0.0233,0.0079	benign,benign	405/2055,405/2040	27448723	1,12729	2145	4220	6365	24472849	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1213G>A	17.37:g.27448723C>T	ENSP00000437073:p.Asp405Asn		24472849	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.800250|3.800250	0.70567|0.70567	2.33E-4|2.33E-4	0.0|0.0	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686|ENST00000528564	T;T;T;T|.	0.72282|.	-0.64;-0.64;-0.64;-0.64|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Myosin head, motor domain (1);|.	0.185478|.	0.56097|.	D|.	0.000026|.	T|T	0.78729|0.78729	0.4329|0.4329	M|M	0.80616|0.80616	2.505|2.505	0.48185|0.48185	D|D	0.999608|0.999608	P;B;B;B|.	0.40909|.	0.732;0.054;0.054;0.171|.	B;B;B;B|.	0.39876|.	0.312;0.014;0.014;0.019|.	T|T	0.79470|0.79470	-0.1790|-0.1790	10|5	0.87932|.	D|.	0|.	.|.	18.7332|18.7332	0.91744|0.91744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;405;405;405|.	Q92614-2;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	N|Q	405;405;405;405;405;85|110	ENSP00000346291:D405N;ENSP00000435932:D405N;ENSP00000434228:D405N;ENSP00000437073:D405N|.	ENSP00000346291:D405N|.	D|R	-|-	1|2	0|0	MYO18A|MYO18A	24472849|24472849	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	5.626000|5.626000	0.67777|0.67777	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.632	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
UNC45B	146862	hgsc.bcm.edu	37	17	33491061	33491061	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:33491061T>C	ENST00000268876.5	+	9	1124	c.1027T>C	c.(1027-1029)Tcc>Ccc	p.S343P	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000378449.1_Missense_Mutation_p.S343P|UNC45B_ENST00000394570.2_Missense_Mutation_p.S343P|UNC45B_ENST00000591048.1_Missense_Mutation_p.S343P|UNC45B_ENST00000433649.1_Missense_Mutation_p.S343P	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	343					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGATCTGCCATCCTGCCTGCC	0.577																																																	0			17											160.0	148.0	152.0					17																	33491061		2203	4300	6503	30515174	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1027T>C	17.37:g.33491061T>C	ENSP00000268876:p.Ser343Pro		30515174	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115605	0.37339	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.54	3.44	0.39384	.	0.350601	0.32488	N	0.006037	T	0.03477	0.0100	N	0.03608	-0.345	0.21220	N	0.999759	B;B;B	0.32467	0.053;0.372;0.0	B;B;B	0.34346	0.03;0.18;0.006	T	0.36089	-0.9762	10	0.39692	T	0.17	-9.3985	4.9553	0.14036	0.3006:0.0:0.1789:0.5205	.	343;343;343	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	P	343	ENSP00000378071:S343P;ENSP00000268876:S343P;ENSP00000412840:S343P;ENSP00000367710:S343P	ENSP00000268876:S343P	S	+	1	0	UNC45B	30515174	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	3.288000	0.51739	0.854000	0.35336	0.459000	0.35465	TCC		0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
ACACA	31	hgsc.bcm.edu	37	17	35445945	35445945	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:35445945T>C	ENST00000394406.2	-	55	7035	c.6845A>G	c.(6844-6846)gAt>gGt	p.D2282G	ACACA_ENST00000335166.5_Missense_Mutation_p.D2204G|ACACA_ENST00000360679.3_Missense_Mutation_p.D2224G|ACACA_ENST00000361253.5_Missense_Mutation_p.D408G|ACACA_ENST00000353139.5_Missense_Mutation_p.D2319G	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2282					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTGAACACCATCCTCCTCTGT	0.488																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0			17											228.0	196.0	207.0					17																	35445945		2203	4300	6503	32520058	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6845A>G	17.37:g.35445945T>C	ENSP00000377928:p.Asp2282Gly		32520058	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591580	0.66219	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.77	5.77	0.91146	.	0.052073	0.85682	D	0.000000	T	0.53433	0.1796	M	0.65498	2.005	0.80722	D	1	B;B;B;B;B	0.10296	0.003;0.0;0.002;0.0;0.0	B;B;B;B;B	0.13407	0.003;0.002;0.009;0.001;0.003	T	0.49399	-0.8944	10	0.36615	T	0.2	-19.3572	16.089	0.81080	0.0:0.0:0.0:1.0	.	320;981;2319;2282;2224	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	G	2319;2224;2282;2306;2204;981;408	ENSP00000344789:D2319G;ENSP00000353898:D2224G;ENSP00000377928:D2282G;ENSP00000335323:D2204G;ENSP00000354565:D408G	ENSP00000335323:D2204G	D	-	2	0	ACACA	32520058	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	8.021000	0.88750	2.205000	0.71048	0.533000	0.62120	GAT		0.488	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
SMARCE1	6605	hgsc.bcm.edu	37	17	38785137	38785137	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:38785137T>C	ENST00000348513.6	-	11	1916	c.1136A>G	c.(1135-1137)gAg>gGg	p.E379G	SMARCE1_ENST00000578044.1_Missense_Mutation_p.E309G|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E361G|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000400122.3_3'UTR|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E344G|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E309G	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	379	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GGTTCCTTCCTCTGCCATACT	0.502																																																	0			17											137.0	116.0	123.0					17																	38785137		2203	4300	6503	36038663	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1136A>G	17.37:g.38785137T>C	ENSP00000323967:p.Glu379Gly		36038663	B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.006137	0.54361	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.20738	2.05;2.05	4.99	3.87	0.44632	.	0.344315	0.37053	N	0.002278	T	0.13329	0.0323	N	0.19112	0.55	0.32623	N	0.523127	B;B	0.17667	0.023;0.023	B;B	0.17722	0.015;0.019	T	0.11817	-1.0572	10	0.26408	T	0.33	.	11.2013	0.48743	0.1376:0.0:0.0:0.8624	.	344;379	C0IMW4;Q969G3	.;SMCE1_HUMAN	G	379;309;361	ENSP00000323967:E379G;ENSP00000445370:E361G	ENSP00000323967:E379G	E	-	2	0	SMARCE1	36038663	1.000000	0.71417	0.926000	0.36857	0.992000	0.81027	5.385000	0.66231	0.971000	0.38288	0.533000	0.62120	GAG		0.502	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079	
KRT222	125113	hgsc.bcm.edu	37	17	38818214	38818214	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:38818214C>A	ENST00000476049.1	-	2	220	c.179G>T	c.(178-180)cGc>cTc	p.R60L	KRT222_ENST00000394052.3_Missense_Mutation_p.R60L			Q8N1A0	KT222_HUMAN	keratin 222	60						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GTGCCACTGGCGTCGGGCCTC	0.463																																																	0			17											205.0	197.0	200.0					17																	38818214		2203	4300	6503	36071740	SO:0001583	missense	0			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.179G>T	17.37:g.38818214C>A	ENSP00000463483:p.Arg60Leu		36071740	Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855712	0.91355	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.90197	-2.63	5.8	5.8	0.92144	Filament (1);	0.236574	0.34178	U	0.004199	D	0.96259	0.8780	M	0.89840	3.065	0.49582	D	0.999804	D;D	0.61697	0.988;0.99	P;D	0.65573	0.895;0.936	D	0.96430	0.9318	10	0.87932	D	0	-9.0565	20.0553	0.97649	0.0:1.0:0.0:0.0	.	20;60	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	L	20;60	ENSP00000377616:R60L	ENSP00000377613:R20L	R	-	2	0	KRT222	36071740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.302000	0.59092	2.754000	0.94517	0.585000	0.79938	CGC		0.463	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
KRT23	25984	hgsc.bcm.edu	37	17	39084583	39084583	+	Silent	SNP	A	A	G	rs532163182	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:39084583A>G	ENST00000209718.3	-	6	1252	c.828T>C	c.(826-828)agT>agC	p.S276S	KRT23_ENST00000436344.3_Silent_p.S139S|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	276	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CAGTGGCTGGACTGGCTGCCT	0.562													A|||	735	0.146765	0.0658	0.1657	5008	,	,		20886	0.2917		0.2296	False		,,,				2504	0.0082																0			17											173.0	142.0	153.0					17																	39084583		2203	4300	6503	36338109	SO:0001819	synonymous_variant	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.828T>C	17.37:g.39084583A>G			36338109	A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	CCDS11380.1																																																																																				0.562	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		
CNTNAP1	8506	hgsc.bcm.edu	37	17	40835922	40835922	+	Silent	SNP	A	A	C	rs2271029	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:40835922A>C	ENST00000264638.4	+	2	368	c.151A>C	c.(151-153)Aga>Cga	p.R51R	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000332438.4_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	51	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACTGCGCCGAGATTCGCCAG	0.667													C|||	2896	0.578275	0.6014	0.5245	5008	,	,		13914	0.4663		0.5775	False		,,,				2504	0.7014																0			17						C		2624,1782	521.1+/-370.4	771,1082,350	37.0	35.0	36.0		151	4.8	0.6	17	dbSNP_100	36	5160,3440	502.5+/-375.7	1556,2048,696	no	coding-synonymous	CNTNAP1	NM_003632.2		2327,3130,1046	CC,CA,AA		40.0,40.4448,40.1507		51/1385	40835922	7784,5222	2203	4300	6503	38089448	SO:0001819	synonymous_variant	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.151A>C	17.37:g.40835922A>C			38089448		Silent	SNP	ENST00000264638.4	37	CCDS11436.1																																																																																				0.667	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
KIF2B	84643	hgsc.bcm.edu	37	17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:51900732C>T	ENST00000268919.4	+	1	494	c.338C>T	c.(337-339)aCg>aTg	p.T113M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTACCGCCACGAAATGGGTT	0.592																																																	1	Substitution - Missense(1)	endometrium(1)	17											76.0	82.0	80.0					17																	51900732		2203	4300	6503	49255731	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.338C>T	17.37:g.51900732C>T	ENSP00000268919:p.Thr113Met		49255731	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	2.969	-0.212944	0.06140	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74315	-0.83	5.11	4.14	0.48551	.	0.928117	0.08888	N	0.878962	T	0.62270	0.2414	L	0.42245	1.32	0.09310	N	1	P	0.37731	0.607	B	0.26416	0.069	T	0.49808	-0.8900	10	0.30078	T	0.28	.	9.5255	0.39162	0.0:0.9047:0.0:0.0953	.	113	Q8N4N8	KIF2B_HUMAN	M	113;36	ENSP00000268919:T113M	ENSP00000268919:T113M	T	+	2	0	KIF2B	49255731	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.167000	0.16602	1.504000	0.48704	0.655000	0.94253	ACG		0.592	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ICAM2	3384	hgsc.bcm.edu	37	17	62081108	62081108	+	Missense_Mutation	SNP	T	T	C	rs56285713		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:62081108T>C	ENST00000412356.1	-	5	899	c.545A>G	c.(544-546)gAg>gGg	p.E182G	ICAM2_ENST00000579788.1_Missense_Mutation_p.E182G|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.E158G|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000578379.1_Missense_Mutation_p.E81G|ICAM2_ENST00000579687.1_Missense_Mutation_p.E182G|ICAM2_ENST00000449662.2_Missense_Mutation_p.E182G|ICAM2_ENST00000418105.1_Missense_Mutation_p.E182G	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	182	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTGGCCATCCTCTCTGTCAGC	0.577																																																	0			17											71.0	60.0	64.0					17																	62081108		2203	4300	6503	59434840	SO:0001583	missense	3384				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.545A>G	17.37:g.62081108T>C	ENSP00000415283:p.Glu182Gly		59434840	Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126571	0.37533	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.04194	3.68;3.68;3.68	5.54	3.36	0.38483	Immunoglobulin-like fold (1);	0.548756	0.19238	N	0.119223	T	0.05640	0.0148	L	0.52126	1.63	0.09310	N	1	B	0.18863	0.031	B	0.17433	0.018	T	0.32587	-0.9901	10	0.48119	T	0.1	-12.4187	6.9022	0.24288	0.0:0.1815:0.0:0.8185	.	182	P13598	ICAM2_HUMAN	G	182	ENSP00000415283:E182G;ENSP00000388666:E182G;ENSP00000392634:E182G	ENSP00000415283:E182G	E	-	2	0	ICAM2	59434840	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.960000	0.29253	0.410000	0.25675	0.459000	0.35465	GAG		0.577	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1		
DNAH17	8632	hgsc.bcm.edu	37	17	76506523	76506523	+	Silent	SNP	G	G	A	rs200358276	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:76506523G>A	ENST00000585328.1	-	27	4294	c.4170C>T	c.(4168-4170)taC>taT	p.Y1390Y	DNAH17_ENST00000389840.5_Silent_p.Y1389Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1389	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTCATCCTCGTAACTGTGGA	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17339	0.0		0.001	False		,,,				2504	0.0																0			17						G		0,4080		0,0,2040	162.0	159.0	160.0		4179	-5.5	0.1	17		160	2,8396		0,2,4197	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6237	AA,AG,GG		0.0238,0.0,0.016		1393/4463	76506523	2,12476	2040	4199	6239	74018118	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4170C>T	17.37:g.76506523G>A			74018118	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.517	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
ENGASE	64772	hgsc.bcm.edu	37	17	77079184	77079184	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:77079184A>G	ENST00000579016.1	+	8	1121	c.1121A>G	c.(1120-1122)gAt>gGt	p.D374G	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	374	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAAGAAGGATTTCTTCCAG	0.547											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			17											108.0	112.0	111.0					17																	77079184		2011	4173	6184	74590779	SO:0001583	missense	64772			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1121A>G	17.37:g.77079184A>G	ENSP00000462333:p.Asp374Gly	1173	74590779	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325598	0.41197	.	.	ENSG00000167280	ENST00000545583	.	.	.	5.51	4.44	0.53790	Glycoside hydrolase, family 85 (1);BRCT (1);	0.704894	0.14860	N	0.294124	T	0.60470	0.2271	M	0.63428	1.95	0.80722	D	1	B	0.30870	0.298	B	0.34093	0.175	T	0.55915	-0.8065	9	0.41790	T	0.15	-18.6628	10.8586	0.46812	0.9254:0.0:0.0746:0.0	.	374	Q8NFI3	ENASE_HUMAN	G	374	.	ENSP00000438577:D374G	D	+	2	0	ENGASE	74590779	0.020000	0.18652	0.009000	0.14445	0.475000	0.33008	2.907000	0.48743	0.935000	0.37341	0.459000	0.35465	GAT		0.547	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
TSPAN10	83882	hgsc.bcm.edu	37	17	79612397	79612397	+	RNA	SNP	A	A	G	rs6420484	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:79612397A>G	ENST00000572675.1	+	0	416				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGGCTGGCTACCTGGGCGCC	0.687													G|||	4230	0.844649	0.947	0.7781	5008	,	,		17743	0.997		0.6431	False		,,,				2504	0.8037																0			17						G	CYS/TYR	3632,438		1624,384,27	29.0	38.0	35.0		416	4.2	1.0	17	dbSNP_116	35	5469,2911		1796,1877,517	yes	missense	TSPAN10	NM_031945.3	194	3420,2261,544	GG,GA,AA		34.7375,10.7617,26.8996	probably-damaging	139/356	79612397	9101,3349	2035	4190	6225	77222802			83882			BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612397A>G			77222802	Q8N548	Missense_Mutation	SNP	ENST00000572675.1	37		1779	0.8145604395604396	463	0.9410569105691057	270	0.7458563535911602	570	0.9965034965034965	476	0.6279683377308707	G	0.317	-0.964059	0.02249	0.892383	0.652625	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.73789	-0.78	4.15	4.15	0.48705	.	0.058357	0.64402	N	0.000001	T	0.00012	0.0000	.	.	.	0.34577	P	0.28596200000000005	B	0.02656	0.0	B	0.01281	0.0	T	0.45338	-0.9268	8	0.02654	T	1	-13.6114	12.1229	0.53902	0.0847:0.0:0.9152:0.0	rs6420484;rs17846019;rs17859003;rs59590586	139	Q6PJ65	.	C	139	ENSP00000331620:Y139C	ENSP00000331620:Y139C	Y	+	2	0	TSPAN10	77222802	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	4.684000	0.61686	0.980000	0.38523	-0.355000	0.07637	TAC		0.687	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945	
P4HB	5034	hgsc.bcm.edu	37	17	79813416	79813416	+	Silent	SNP	C	C	T	rs370423809		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:79813416C>T	ENST00000331483.4	-	3	621	c.399G>A	c.(397-399)acG>acA	p.T133T	P4HB_ENST00000439918.2_Intron|P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	133	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CAGCCGGGCCCGTGCGCTTCT	0.597																																					Colon(49;444 983 1296 7887 42561)												0			17						C		1,4405		0,1,2202	47.0	49.0	48.0		399	-8.8	0.2	17		48	0,8600		0,0,4300	no	coding-synonymous	P4HB	NM_000918.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		133/509	79813416	1,13005	2203	4300	6503	77406705	SO:0001819	synonymous_variant	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.399G>A	17.37:g.79813416C>T			77406705	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	CCDS11787.1																																																																																				0.597	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	
GART	2618	hgsc.bcm.edu	37	21	34876605	34876605	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr21:34876605T>C	ENST00000381831.3	-	22	3122	c.2859A>G	c.(2857-2859)ggA>ggG	p.G953G	GART_ENST00000381839.3_Silent_p.G953G|GART_ENST00000381815.4_Silent_p.G953G|GART_ENST00000543717.1_Silent_p.G505G	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	953	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AAATAATCTGTCCAGCATCCA	0.373																																																	0			21											59.0	59.0	59.0					21																	34876605		2203	4300	6503	33798475	SO:0001819	synonymous_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2859A>G	21.37:g.34876605T>C			33798475	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	CCDS13627.1																																																																																				0.373	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819	
DOPEY2	9980	hgsc.bcm.edu	37	21	37583900	37583900	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr21:37583900G>T	ENST00000399151.3	+	6	816	c.731G>T	c.(730-732)aGa>aTa	p.R244I	RN7SL73P_ENST00000585239.1_RNA|DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	244					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTGTGCAAAGAAATAATCTG	0.418																																																	0			21											221.0	188.0	199.0					21																	37583900		2203	4300	6503	36505770	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.731G>T	21.37:g.37583900G>T	ENSP00000382104:p.Arg244Ile		36505770	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109878	0.94292	.	.	ENSG00000142197	ENST00000399151	T	0.38240	1.15	5.23	5.23	0.72850	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81295	-0.0997	10	0.87932	D	0	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	244;244	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	I	244	ENSP00000382104:R244I	ENSP00000382104:R244I	R	+	2	0	DOPEY2	36505770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.535000	0.90623	2.448000	0.82819	0.655000	0.94253	AGA		0.418	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
MCM3AP	8888	hgsc.bcm.edu	37	21	47684123	47684123	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr21:47684123C>T	ENST00000397708.1	-	14	3497	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	MCM3AP_ENST00000291688.1_Silent_p.A1081A			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1081					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACCACCTGCGCCAGGTCCT	0.632																																																	0			21											45.0	37.0	40.0					21																	47684123		2202	4300	6502	46508551	SO:0001819	synonymous_variant	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3243G>A	21.37:g.47684123C>T			46508551	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	CCDS13734.1																																																																																				0.632	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
TPSB2	64499	hgsc.bcm.edu	37	16	1279714	1279714	+	RNA	SNP	A	A	G	rs192643610	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:1279714A>G	ENST00000339687.6	-	0	108				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AACGATGCCCACTCGCTGCAG	0.711																																																	0			16											25.0	32.0	29.0					16																	1279714		2180	4295	6475	1219715			64499			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279714A>G			1219715	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	ENST00000339687.6	37		171	0.0782967032967033	39	0.07926829268292683	28	0.07734806629834254	44	0.07692307692307693	60	0.079155672823219	a	8.603	0.887339	0.17540	.	.	ENSG00000197253	ENST00000430512	T	0.81078	-1.45	4.02	-8.04	0.01110	.	1.382050	0.04868	N	0.445430	T	0.05090	0.0136	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32375	-0.9909	9	0.07644	T	0.81	.	3.7543	0.08579	0.5801:0.1008:0.1165:0.2027	.	29	P20231	TRYB2_HUMAN	A	29	ENSP00000412409:V29A	ENSP00000412409:V29A	V	-	2	0	TPSB2	1219715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.520000	0.00221	-2.364000	0.00607	-1.306000	0.01317	GTG		0.711	TPSB2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000342364.1	NM_024164	
TPSD1	23430	hgsc.bcm.edu	37	16	1306346	1306346	+	Missense_Mutation	SNP	C	C	G	rs3865205	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:1306346C>G	ENST00000211076.3	+	1	213	c.65C>G	c.(64-66)cCg>cGg	p.P22R	TPSD1_ENST00000397534.2_Missense_Mutation_p.P15R|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	22			P -> R (in dbSNP:rs3865205). {ECO:0000269|PubMed:9920877}.			extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTGGCGAGCCCGGCCTACGTG	0.721													-|||	1100	0.219649	0.112	0.1571	5008	,	,		14799	0.3641		0.1938	False		,,,				2504	0.2873																0			16											32.0	40.0	37.0					16																	1306346		2197	4298	6495	1246347	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.65C>G	16.37:g.1306346C>G	ENSP00000211076:p.Pro22Arg		1246347	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	3.814	-0.039033	0.07497	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81579	-1.51;-1.51	2.55	0.112	0.14623	.	2.133630	0.02279	N	0.069280	T	0.64571	0.2610	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.26693	0.072	T	0.51317	-0.8721	10	0.20046	T	0.44	.	6.9607	0.24595	0.0:0.3788:0.0:0.6212	rs3865205;rs3891050	22	Q9BZJ3	TRYD_HUMAN	R	15;22	ENSP00000380668:P15R;ENSP00000211076:P22R	ENSP00000211076:P22R	P	+	2	0	TPSD1	1246347	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-2.678000	0.00839	-0.544000	0.06232	-2.646000	0.00150	CCG		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
BAIAP3	8938	hgsc.bcm.edu	37	16	1396237	1396237	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:1396237G>T	ENST00000324385.5	+	25	2631	c.2473G>T	c.(2473-2475)Gca>Tca	p.A825S	BAIAP3_ENST00000421665.2_Missense_Mutation_p.A754S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A807S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.A762S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A767S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A790S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A807S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	825					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAAGGGCCTGGCATGGCCAGA	0.687																																																	0			16											22.0	27.0	26.0					16																	1396237		2191	4297	6488	1336238	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2473G>T	16.37:g.1396237G>T	ENSP00000324510:p.Ala825Ser		1336238	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319853	0.23994	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71341	-0.55;-0.55;-0.56;-0.55;-0.55	3.98	3.98	0.46160	.	0.205916	0.40144	N	0.001171	T	0.60090	0.2242	L	0.47716	1.5	0.40836	D	0.983632	B;B;B;B	0.33000	0.393;0.229;0.229;0.229	B;B;B;B	0.26864	0.07;0.046;0.074;0.046	T	0.64833	-0.6314	10	0.49607	T	0.09	-16.7218	11.397	0.49847	0.0:0.0:1.0:0.0	.	754;767;825;807	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	S	790;807;825;807;754	ENSP00000407242:A790S;ENSP00000380625:A807S;ENSP00000324510:A825S;ENSP00000380626:A807S;ENSP00000409533:A754S	ENSP00000324510:A825S	A	+	1	0	BAIAP3	1336238	0.321000	0.24625	0.986000	0.45419	0.174000	0.22865	0.732000	0.26072	2.046000	0.60703	0.491000	0.48974	GCA		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3		
CLEC16A	23274	hgsc.bcm.edu	37	16	11214596	11214596	+	Silent	SNP	A	A	G	rs201350159		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:11214596A>G	ENST00000409790.1	+	20	2471	c.2241A>G	c.(2239-2241)ggA>ggG	p.G747G	CLEC16A_ENST00000409552.3_Silent_p.G729G|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGGCTGGGGAGTGGTCAAGT	0.532																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	16											110.0	113.0	112.0					16																	11214596		2056	4200	6256	11122097	SO:0001819	synonymous_variant	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2241A>G	16.37:g.11214596A>G			11122097		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																				0.532	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
ABCC6	368	hgsc.bcm.edu	37	16	16248824	16248824	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:16248824T>G	ENST00000205557.7	-	28	3976	c.3947A>C	c.(3946-3948)cAg>cCg	p.Q1316P		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1316	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGCTGCCTCCTGGAGCCGCAG	0.677																																																	0			16											20.0	17.0	18.0					16																	16248824		2189	4296	6485	16156325	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3947A>C	16.37:g.16248824T>G	ENSP00000205557:p.Gln1316Pro		16156325	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.590438	0.28357	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90324	-2.65	3.15	0.784	0.18578	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.238580	0.06176	U	0.678571	D	0.87442	0.6178	L	0.41824	1.3	0.09310	N	1	P;P	0.44877	0.845;0.845	P;P	0.44811	0.461;0.461	T	0.76602	-0.2899	10	0.62326	D	0.03	.	6.3105	0.21163	0.3172:0.0:0.0:0.6828	.	1316;1316	O95255;A8Y988	MRP6_HUMAN;.	P	1316;254	ENSP00000205557:Q1316P	ENSP00000205557:Q1316P	Q	-	2	0	ABCC6	16156325	0.400000	0.25295	0.764000	0.31436	0.668000	0.39293	4.144000	0.58057	0.125000	0.18397	0.386000	0.25728	CAG		0.677	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
NOMO3	408050	hgsc.bcm.edu	37	16	16357002	16357002	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:16357002C>T	ENST00000399336.4	+	13	1639	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	NOMO3_ENST00000263012.6_Silent_p.T489T|NOMO3_ENST00000538468.1_Silent_p.T322T	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	489						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TTACTGTGACCGACAGGCCTG	0.488																																																	0			16											167.0	210.0	196.0					16																	16357002		2073	4295	6368	16264503	SO:0001819	synonymous_variant	408050			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.1467C>T	16.37:g.16357002C>T			16264503		Silent	SNP	ENST00000399336.4	37	CCDS42123.1																																																																																				0.488	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409528.13	NM_001004067	
ARL6IP1	23204	hgsc.bcm.edu	37	16	18804649	18804649	+	Silent	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:18804649G>T	ENST00000304414.7	-	6	748	c.537C>A	c.(535-537)atC>atA	p.I179I	ARL6IP1_ENST00000546206.2_Silent_p.I150I|ARL6IP1_ENST00000562819.1_Silent_p.I64I|RPS15A_ENST00000322989.4_5'Flank|RPS15A_ENST00000563390.1_5'Flank|RP11-1035H13.3_ENST00000567078.2_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	179					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						ACTTCAAAATGATTCCATGTT	0.338																																																	0			16											85.0	80.0	81.0					16																	18804649		2197	4300	6497	18712150	SO:0001819	synonymous_variant	23204			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.537C>A	16.37:g.18804649G>T			18712150		Silent	SNP	ENST00000304414.7	37	CCDS10572.1																																																																																				0.338	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161	
UQCRC2	7385	hgsc.bcm.edu	37	16	21968588	21968588	+	Silent	SNP	T	T	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:21968588T>A	ENST00000268379.4	+	2	830	c.66T>A	c.(64-66)gtT>gtA	p.V22V	UQCRC2_ENST00000561553.1_Silent_p.V22V	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	22					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCCCCAAAGTTAAAGCCACAG	0.448																																					Colon(123;450 1645 12841 25393 45623)												0			16											69.0	71.0	70.0					16																	21968588		2198	4300	6498	21876089	SO:0001819	synonymous_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.66T>A	16.37:g.21968588T>A			21876089	B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	37	CCDS10601.1																																																																																				0.448	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	
PLK1	5347	hgsc.bcm.edu	37	16	23700038	23700038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:23700038G>A	ENST00000300093.4	+	7	1353	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	414					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCAGCAAGTGGGTGGACTATT	0.542																																					Colon(12;240 564 27038 33155)												0			16											186.0	162.0	170.0					16																	23700038		2197	4300	6497	23607539	SO:0001587	stop_gained	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1242G>A	16.37:g.23700038G>A	ENSP00000300093:p.Trp414*		23607539	Q15153|Q99746	Nonsense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	38	6.717120	0.97784	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.469	16.9903	0.86352	0.0:0.0:1.0:0.0	.	.	.	.	X	414;317	.	ENSP00000300093:W414X	W	+	3	0	PLK1	23607539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.391000	0.97249	2.610000	0.88304	0.655000	0.94253	TGG		0.542	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
NLRC5	84166	hgsc.bcm.edu	37	16	57059793	57059793	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:57059793T>C	ENST00000262510.6	+	6	1163	c.938T>C	c.(937-939)cTc>cCc	p.L313P	NLRC5_ENST00000308149.7_Missense_Mutation_p.L313P|NLRC5_ENST00000539144.1_Missense_Mutation_p.L313P|NLRC5_ENST00000436936.1_Missense_Mutation_p.L313P	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	313	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATGAGGCCCTCCAGCCTATG	0.592																																																	0			16											91.0	89.0	90.0					16																	57059793		2198	4300	6498	55617294	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.938T>C	16.37:g.57059793T>C	ENSP00000262510:p.Leu313Pro		55617294	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666611	0.29604	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.63	5.63	0.86233	NACHT nucleoside triphosphatase (1);	0.000000	0.27613	N	0.018589	D	0.85788	0.5778	M	0.68317	2.08	0.43435	D	0.995607	D;D;D;D	0.76494	0.998;0.999;0.959;0.997	D;D;D;D	0.70227	0.956;0.953;0.915;0.968	D	0.85869	0.1415	10	0.46703	T	0.11	.	13.7941	0.63160	0.0:0.0:0.0:1.0	.	313;313;313;313	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	P	313	ENSP00000262510:L313P;ENSP00000308886:L313P;ENSP00000389739:L313P;ENSP00000441727:L313P	ENSP00000262510:L313P	L	+	2	0	NLRC5	55617294	0.212000	0.23540	0.599000	0.28851	0.078000	0.17371	2.077000	0.41557	2.144000	0.66660	0.459000	0.35465	CTC		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
CDH1	999	hgsc.bcm.edu	37	16	68849464	68849464	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:68849464T>C	ENST00000261769.5	+	10	1558	c.1367T>C	c.(1366-1368)gTg>gCg	p.V456A	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.V395A|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	456	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACGTAGCAGTGACGAATGTG	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(1)|Deletion - In frame(1)	stomach(1)|breast(1)	16											157.0	130.0	139.0					16																	68849464		2198	4300	6498	67406965	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1367T>C	16.37:g.68849464T>C	ENSP00000261769:p.Val456Ala		67406965	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	7.361	0.624767	0.14193	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.55052	1.69;0.54	5.7	2.2	0.27929	Cadherin (5);Cadherin-like (1);	0.151709	0.30428	N	0.009659	T	0.32255	0.0823	N	0.13371	0.34	0.46298	D	0.99897	P;B	0.40250	0.709;0.213	B;B	0.43360	0.217;0.417	T	0.13335	-1.0513	10	0.06236	T	0.91	.	9.5778	0.39468	0.0:0.2058:0.0:0.7942	.	395;456	Q9UII8;P12830	.;CADH1_HUMAN	A	456;474;456;395	ENSP00000261769:V456A;ENSP00000414946:V395A	ENSP00000261769:V456A	V	+	2	0	CDH1	67406965	0.619000	0.27059	0.011000	0.14972	0.128000	0.20619	0.910000	0.28571	0.439000	0.26476	0.454000	0.30748	GTG		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
SLC7A5	8140	hgsc.bcm.edu	37	16	87870233	87870233	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr16:87870233G>A	ENST00000261622.4	-	8	1226	c.1161C>T	c.(1159-1161)taC>taT	p.Y387Y	SLC7A5_ENST00000565644.1_Silent_p.Y121Y|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	387					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	TGGAGAAGGCGTAGAGCAGCG	0.622																																																	0			16											87.0	81.0	83.0					16																	87870233		2198	4300	6498	86427734	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1161C>T	16.37:g.87870233G>A			86427734	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																				0.622	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486	
L3MBTL4	91133	hgsc.bcm.edu	37	18	6138291	6138291	+	Silent	SNP	C	C	T	rs541961038		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:6138291C>T	ENST00000284898.6	-	14	1301	c.1101G>A	c.(1099-1101)acG>acA	p.T367T	L3MBTL4_ENST00000317931.7_Silent_p.T367T|L3MBTL4_ENST00000400104.3_Silent_p.T367T|L3MBTL4_ENST00000400105.2_Silent_p.T367T|L3MBTL4_ENST00000535782.1_Silent_p.T180T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	367					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T367T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCAGGTCATTCGTTCCTTCAG	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)												1	Substitution - coding silent(1)	central_nervous_system(1)	18											59.0	51.0	53.0					18																	6138291		2203	4300	6503	6128291	SO:0001819	synonymous_variant	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1101G>A	18.37:g.6138291C>T			6128291	A8MTL8|Q8IXS3	Silent	SNP	ENST00000284898.6	37	CCDS11839.2																																																																																				0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
PPP4R1	9989	hgsc.bcm.edu	37	18	9553342	9553342	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:9553342G>A	ENST00000400556.3	-	16	2342	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PPP4R1_ENST00000400555.3_Missense_Mutation_p.R740W	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	757					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GCTCGAAACCGCCAATTTCTA	0.303																																					Melanoma(188;1232 2082 5061 11948 35994)												0			18											76.0	72.0	73.0					18																	9553342		1807	4073	5880	9543342	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2269C>T	18.37:g.9553342G>A	ENSP00000383402:p.Arg757Trp		9543342	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952157	0.73787	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.35421	1.31;1.31	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;P;D	0.64776	0.92;0.777;0.929	T	0.60860	-0.7179	9	.	.	.	-9.9361	19.1356	0.93426	0.0:0.0:1.0:0.0	.	740;757;740	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	W	757;740	ENSP00000383402:R757W;ENSP00000383401:R740W	.	R	-	1	2	PPP4R1	9543342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.377000	0.59562	2.527000	0.85204	0.655000	0.94253	CGG		0.303	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
DSC1	1823	hgsc.bcm.edu	37	18	28711744	28711744	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:28711744C>T	ENST00000257198.5	-	15	2561	c.2300G>A	c.(2299-2301)gGt>gAt	p.G767D	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.G767D	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	767					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACCAACAGTACCAACAGACAT	0.413																																																	0			18											140.0	123.0	128.0					18																	28711744		2203	4300	6503	26965742	SO:0001583	missense	1827			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2300G>A	18.37:g.28711744C>T	ENSP00000257198:p.Gly767Asp		26965742	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629961	0.67015	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.56941	0.45;0.43	5.59	5.59	0.84812	.	0.000000	0.53938	D	0.000044	T	0.73528	0.3598	M	0.75777	2.31	0.36692	D	0.879624	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78001	-0.2375	10	0.52906	T	0.07	.	18.3478	0.90328	0.0:1.0:0.0:0.0	.	767;767	Q08554;Q9HB00	DSC1_HUMAN;.	D	767	ENSP00000257197:G767D;ENSP00000257198:G767D	ENSP00000257197:G767D	G	-	2	0	DSC1	26965742	0.959000	0.32827	0.490000	0.27465	0.683000	0.39861	1.929000	0.40114	2.646000	0.89796	0.655000	0.94253	GGT		0.413	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSG4	147409	hgsc.bcm.edu	37	18	28983486	28983486	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:28983486C>T	ENST00000308128.4	+	11	1660	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P509S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	509					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P509S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATTGACTCTCCATCAGTCCT	0.398																																																	1	Substitution - Missense(1)	central_nervous_system(1)	18											156.0	144.0	148.0					18																	28983486		2203	4300	6503	27237484	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1525C>T	18.37:g.28983486C>T	ENSP00000311859:p.Pro509Ser		27237484	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419265	0.25552	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61158	0.21;0.13	6.01	4.19	0.49359	Cadherin-like (1);	0.248030	0.21238	N	0.077878	T	0.48314	0.1493	L	0.47016	1.485	0.34894	D	0.745838	B;B	0.15141	0.006;0.012	B;B	0.16289	0.007;0.015	T	0.52823	-0.8524	10	0.38643	T	0.18	.	9.1737	0.37098	0.0:0.7604:0.1601:0.0794	.	509;509	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	509	ENSP00000311859:P509S;ENSP00000352785:P509S	ENSP00000311859:P509S	P	+	1	0	DSG4	27237484	0.457000	0.25752	0.843000	0.33291	0.356000	0.29392	1.384000	0.34396	0.826000	0.34661	0.655000	0.94253	CCA		0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
SMAD4	4089	hgsc.bcm.edu	37	18	48575195	48575195	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:48575195C>T	ENST00000342988.3	+	3	927	c.389C>T	c.(388-390)cCa>cTa	p.P130L	SMAD4_ENST00000588745.1_Missense_Mutation_p.P130L|SMAD4_ENST00000398417.2_Missense_Mutation_p.P130L|SMAD4_ENST00000452201.2_Missense_Mutation_p.P130L|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	130	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.		P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.?(4)|p.P130L(1)		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)		TGTGTGAATCCATATCACTAC	0.363																																																	41	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(1)	pancreas(27)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	18											147.0	131.0	137.0					18																	48575195		2203	4300	6503	46829193	SO:0001583	missense	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.389C>T	18.37:g.48575195C>T	ENSP00000341551:p.Pro130Leu		46829193	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146268	0.94603	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.92965	-3.14;-3.14;-3.14	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98481	1.0605	10	0.87932	D	0	.	18.1041	0.89515	0.0:1.0:0.0:0.0	.	130	Q13485	SMAD4_HUMAN	L	130	ENSP00000409551:P130L;ENSP00000341551:P130L;ENSP00000381452:P130L	ENSP00000341551:P130L	P	+	2	0	SMAD4	46829193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.793000	0.85851	2.540000	0.85666	0.585000	0.79938	CCA		0.363	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SMAD4	4089	hgsc.bcm.edu	37	18	48586282	48586282	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr18:48586282T>C	ENST00000342988.3	+	8	1489	c.951T>C	c.(949-951)caT>caC	p.H317H	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Silent_p.H317H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	317	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.H317Q(1)		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)		TTTCCAATCATCCTGGTAAGT	0.353																																																	40	Whole gene deletion(36)|Unknown(3)|Substitution - Missense(1)	pancreas(27)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(1)	18											113.0	108.0	110.0					18																	48586282		2202	4300	6502	46840280	SO:0001819	synonymous_variant	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.951T>C	18.37:g.48586282T>C			46840280	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
VHL	7428	hgsc.bcm.edu	37	3	10188243	10188243	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:10188243T>C	ENST00000256474.2	+	2	1226	c.386T>C	c.(385-387)cTg>cCg	p.L129P	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	129	Involved in binding to CCT complex.		L -> LE (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATGGGCTTCTGGTTAACCAA	0.473		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	1	Deletion - Frameshift(1)	kidney(1)	3	GRCh37	CI024081	VHL	I							202.0	186.0	192.0					3																	10188243		2203	4300	6503	10163243	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.386T>C	3.37:g.10188243T>C	ENSP00000256474:p.Leu129Pro		10163243	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.212082	0.39102	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	3.89	0.44902	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.332531	0.28977	N	0.013530	D	0.99591	0.9852	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98141	1.0436	10	0.51188	T	0.08	-18.8889	10.4626	0.44590	0.0:0.0:0.1639:0.8361	.	129	P40337	VHL_HUMAN	P	129;47	ENSP00000256474:L129P	ENSP00000256474:L129P	L	+	2	0	VHL	10163243	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	3.266000	0.51569	0.869000	0.35703	-0.460000	0.05396	CTG		0.473	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266114	41266114	+	Silent	SNP	T	T	C	rs121913416		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:41266114T>C	ENST00000349496.5	+	3	391	c.111T>C	c.(109-111)tcT>tcC	p.S37S	CTNNB1_ENST00000405570.1_Silent_p.S37S|CTNNB1_ENST00000396183.3_Silent_p.S37S|CTNNB1_ENST00000453024.1_Silent_p.S30S|CTNNB1_ENST00000396185.3_Silent_p.S37S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S37S(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.S37_A39>S(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GAATCCATTCTGGTGCCACTA	0.498		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	132	Deletion - In frame(102)|Complex - deletion inframe(19)|Unknown(7)|Deletion - Frameshift(3)|Substitution - coding silent(1)	liver(98)|large_intestine(19)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|kidney(1)	3											92.0	78.0	82.0					3																	41266114		2203	4300	6503	41241118	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.111T>C	3.37:g.41266114T>C			41241118	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266181	41266181	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:41266181T>C	ENST00000349496.5	+	3	458	c.178T>C	c.(178-180)Tcc>Ccc	p.S60P	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S60P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S60P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S53P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S60P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	60					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGTGGATACCTCCCAAGTCCT	0.458		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	108	Deletion - In frame(86)|Complex - deletion inframe(15)|Unknown(7)	liver(79)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											65.0	62.0	63.0					3																	41266181		2203	4300	6503	41241185	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.178T>C	3.37:g.41266181T>C	ENSP00000344456:p.Ser60Pro		41241185	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871453	0.33069	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.91	3.48	0.39840	.	0.154766	0.56097	D	0.000040	T	0.28466	0.0704	L	0.35854	1.095	0.29701	N	0.840169	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	10	0.29301	T	0.29	-3.6161	6.1112	0.20102	0.71:0.0:0.0846:0.2053	.	60	P35222	CTNB1_HUMAN	P	53;60;60;60;60;53;60;60;60	ENSP00000400508:S53P;ENSP00000385604:S60P;ENSP00000412219:S60P;ENSP00000379486:S60P;ENSP00000344456:S60P;ENSP00000411226:S53P;ENSP00000379488:S60P;ENSP00000409302:S60P;ENSP00000401599:S60P	ENSP00000344456:S60P	S	+	1	0	CTNNB1	41241185	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.318000	0.79029	0.464000	0.27142	0.533000	0.62120	TCC		0.458	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
FYCO1	79443	hgsc.bcm.edu	37	3	46016794	46016794	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:46016794G>A	ENST00000296137.2	-	5	537	c.332C>T	c.(331-333)tCc>tTc	p.S111F	FYCO1_ENST00000535325.1_Missense_Mutation_p.S111F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGCACCAAGGAGTAGCGAAT	0.488																																																	0			3											164.0	130.0	142.0					3																	46016794		2203	4300	6503	45991798	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.332C>T	3.37:g.46016794G>A	ENSP00000296137:p.Ser111Phe		45991798	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572571	0.86542	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.30182	1.54;1.54	5.69	5.69	0.88448	RUN (2);	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	L	0.40543	1.245	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.46219	-0.9207	10	0.87932	D	0	-19.6544	17.9818	0.89144	0.0:0.0:1.0:0.0	.	111;111	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	F	111	ENSP00000296137:S111F;ENSP00000441178:S111F	ENSP00000296137:S111F	S	-	2	0	FYCO1	45991798	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	9.352000	0.97076	2.684000	0.91462	0.557000	0.71058	TCC		0.488	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
LTF	4057	hgsc.bcm.edu	37	3	46501175	46501175	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:46501175A>G	ENST00000231751.4	-	2	473	c.178T>C	c.(178-180)Tcc>Ccc	p.S60P	LTF_ENST00000426532.2_Missense_Mutation_p.S16P|LTF_ENST00000417439.1_Missense_Mutation_p.S60P	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	60	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TGGATGGGGGAGTCTCTCTTT	0.522																																																	0			3											124.0	115.0	118.0					3																	46501175		2203	4300	6503	46476179	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.178T>C	3.37:g.46501175A>G	ENSP00000231751:p.Ser60Pro		46476179	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799070	0.50208	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.36878	2.25;2.25;2.25;2.25;1.23;1.23	4.62	3.42	0.39159	.	0.334073	0.32769	N	0.005661	T	0.64583	0.2611	M	0.93898	3.47	0.09310	N	1	D;D;D	0.65815	0.994;0.995;0.994	D;D;D	0.72625	0.978;0.946;0.978	T	0.59064	-0.7524	10	0.72032	D	0.01	-23.6303	8.032	0.30470	0.8192:0.0:0.0:0.1808	.	60;47;60	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	P	60;16;60;47;60;71;16	ENSP00000231751:S60P;ENSP00000405719:S16P;ENSP00000405546:S60P;ENSP00000397427:S47P;ENSP00000395234:S71P;ENSP00000400254:S16P	ENSP00000231751:S60P	S	-	1	0	LTF	46476179	0.136000	0.22515	0.002000	0.10522	0.006000	0.05464	1.447000	0.35101	0.839000	0.34971	0.528000	0.53228	TCC		0.522	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
DHX30	22907	hgsc.bcm.edu	37	3	47889438	47889438	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:47889438A>G	ENST00000445061.1	+	14	2685	c.2278A>G	c.(2278-2280)Aag>Gag	p.K760E	DHX30_ENST00000348968.4_Missense_Mutation_p.K732E|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.K788E|DHX30_ENST00000446256.2_Missense_Mutation_p.K721E	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	760	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTATGACCTGAAGACCAAGGT	0.557																																																	0			3											125.0	109.0	114.0					3																	47889438		2203	4300	6503	47864442	SO:0001583	missense	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2278A>G	3.37:g.47889438A>G	ENSP00000405620:p.Lys760Glu		47864442	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	8.657	0.899565	0.17686	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03152	4.04;4.03;4.03;4.03	5.73	4.57	0.56435	Helicase, C-terminal (3);	0.123853	0.52532	D	0.000073	T	0.02727	0.0082	N	0.16166	0.38	0.39555	D	0.96903	B;B	0.18968	0.032;0.005	B;B	0.21151	0.033;0.012	T	0.52518	-0.8565	10	0.20519	T	0.43	.	10.9223	0.47171	0.9268:0.0:0.0732:0.0	.	760;721	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	E	721;760;732;788	ENSP00000392601:K721E;ENSP00000405620:K760E;ENSP00000343442:K732E;ENSP00000394682:K788E	ENSP00000343442:K732E	K	+	1	0	DHX30	47864442	0.999000	0.42202	0.997000	0.53966	0.985000	0.73830	4.418000	0.59828	1.002000	0.39104	0.460000	0.39030	AAG		0.557	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
COL7A1	1294	hgsc.bcm.edu	37	3	48616674	48616674	+	Missense_Mutation	SNP	C	C	T	rs374718902		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:48616674C>T	ENST00000328333.8	-	61	5451	c.5344G>A	c.(5344-5346)Gga>Aga	p.G1782R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1782R|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1782	Triple-helical region.		G -> R (in RDEB; mitis type). {ECO:0000269|PubMed:8618018}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCATCCAGTCCGCTCCGGCCA	0.612																																																	0			3	GRCh37	CM960407	COL7A1	M		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	40.0	45.0	43.0		5344	5.2	0.5	3		43	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1782/2945	48616674	1,13005	2203	4300	6503	48591678	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5344G>A	3.37:g.48616674C>T	ENSP00000332371:p.Gly1782Arg		48591678	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629473	0.46944	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.53;-5.77	5.16	5.16	0.70880	.	0.000000	0.46442	D	0.000285	D	0.99694	0.9884	H	0.98276	4.19	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	D	0.97210	0.9870	10	0.87932	D	0	.	17.2107	0.86929	0.0:1.0:0.0:0.0	.	1782	Q02388	CO7A1_HUMAN	R	1782	ENSP00000332371:G1782R;ENSP00000412569:G1782R	ENSP00000332371:G1782R	G	-	1	0	COL7A1	48591678	1.000000	0.71417	0.474000	0.27266	0.238000	0.25445	6.331000	0.72929	2.418000	0.82041	0.655000	0.94253	GGA		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
BSN	8927	hgsc.bcm.edu	37	3	49690353	49690353	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:49690353T>C	ENST00000296452.4	+	5	3478	c.3364T>C	c.(3364-3366)Tcc>Ccc	p.S1122P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1122					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACACCGCTCCTCCTGCTCTGA	0.612																																																	0			3											71.0	71.0	71.0					3																	49690353		2203	4300	6503	49665357	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3364T>C	3.37:g.49690353T>C	ENSP00000296452:p.Ser1122Pro		49665357	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018151	0.54576	.	.	ENSG00000164061	ENST00000296452	T	0.34275	1.37	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.65335	-0.6193	10	0.54805	T	0.06	.	15.1481	0.72674	0.0:0.0:0.0:1.0	.	1122	Q9UPA5	BSN_HUMAN	P	1122	ENSP00000296452:S1122P	ENSP00000296452:S1122P	S	+	1	0	BSN	49665357	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.013000	0.88655	1.998000	0.58463	0.459000	0.35465	TCC		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
ERC2	26059	hgsc.bcm.edu	37	3	55922427	55922427	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:55922427G>A	ENST00000288221.6	-	14	2809	c.2554C>T	c.(2554-2556)Ctg>Ttg	p.L852L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	852						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCATCTCCAGGATCTCCTCC	0.537																																																	0			3											139.0	145.0	143.0					3																	55922427		2000	4167	6167	55897467	SO:0001819	synonymous_variant	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2554C>T	3.37:g.55922427G>A			55897467	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	CCDS46851.1																																																																																				0.537	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
EPHA6	285220	hgsc.bcm.edu	37	3	96706662	96706662	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:96706662T>C	ENST00000389672.5	+	3	977	c.939T>C	c.(937-939)gaT>gaC	p.D313D	EPHA6_ENST00000470610.2_Silent_p.D313D|EPHA6_ENST00000542517.1_Silent_p.D219D	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	219						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTTTCCTGATACCATTCCAA	0.478																																																	0			3											215.0	217.0	216.0					3																	96706662		1983	4178	6161	98189352	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.939T>C	3.37:g.96706662T>C			98189352	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	7.882	0.730493	0.15507	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.47	1.9	0.25705	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47959	-0.9076	4	.	.	.	.	8.408	0.32627	0.0:0.4357:0.0:0.5643	.	.	.	.	H	258	.	.	Y	+	1	0	EPHA6	98189352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	0.097000	0.17492	0.528000	0.53228	TAC		0.478	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
ATG3	64422	hgsc.bcm.edu	37	3	112272143	112272143	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:112272143A>G	ENST00000283290.5	-	3	582	c.148T>C	c.(148-150)Tgt>Cgt	p.C50R	ATG3_ENST00000402314.2_Missense_Mutation_p.C50R|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	50					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CATGTTGGACAGTGGTGGACT	0.323																																																	0			3											80.0	84.0	82.0					3																	112272143		2203	4300	6503	113754833	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.148T>C	3.37:g.112272143A>G	ENSP00000283290:p.Cys50Arg		113754833	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990307	0.74589	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.38	5.38	0.77491	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84252	0.5431	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.86704	0.1931	9	0.51188	T	0.08	-8.5266	14.6589	0.68855	1.0:0.0:0.0:0.0	.	50;50	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	R	50	.	ENSP00000283290:C50R	C	-	1	0	ATG3	113754833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.321000	0.89997	2.152000	0.67230	0.528000	0.53228	TGT		0.323	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488	
SIDT1	54847	hgsc.bcm.edu	37	3	113329935	113329935	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:113329935G>A	ENST00000264852.4	+	18	2527	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.A601T	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	601					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAATGCCAGCGCCTACTCTGC	0.577																																																	0			3											191.0	163.0	172.0					3																	113329935		2203	4300	6503	114812625	SO:0001583	missense	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1801G>A	3.37:g.113329935G>A	ENSP00000264852:p.Ala601Thr		114812625	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730561	0.96856	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.46451	0.87;0.87	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.72244	0.3436	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.988;0.989	T	0.76553	-0.2917	10	0.72032	D	0.01	-18.3682	20.0396	0.97574	0.0:0.0:1.0:0.0	.	601;601	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	T	601	ENSP00000264852:A601T;ENSP00000377416:A601T	ENSP00000264852:A601T	A	+	1	0	SIDT1	114812625	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.728000	0.93425	0.643000	0.83706	GCC		0.577	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
CPNE4	131034	hgsc.bcm.edu	37	3	131293954	131293954	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:131293954G>T	ENST00000512055.1	-	14	3014	c.888C>A	c.(886-888)ttC>ttA	p.F296L	CPNE4_ENST00000429747.1_Missense_Mutation_p.F296L|CPNE4_ENST00000511604.1_Missense_Mutation_p.F296L|CPNE4_ENST00000502818.1_Missense_Mutation_p.F314L|CPNE4_ENST00000512332.1_Missense_Mutation_p.F314L			Q96A23	CPNE4_HUMAN	copine IV	296						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGTAGTCCAAGAAAGAATGCA	0.423																																																	0			3											132.0	117.0	122.0					3																	131293954		2203	4300	6503	132776644	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.888C>A	3.37:g.131293954G>T	ENSP00000421705:p.Phe296Leu		132776644	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643822	0.67244	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.66099	-0.16;-0.16;-0.19;-0.16;-0.19	5.73	5.73	0.89815	.	0.045928	0.85682	D	0.000000	T	0.70465	0.3227	M	0.92784	3.345	0.80722	D	1	B;B	0.32071	0.164;0.355	B;B	0.32211	0.028;0.142	T	0.75169	-0.3412	10	0.87932	D	0	-25.5422	12.3863	0.55335	0.0781:0.0:0.9219:0.0	.	314;296	Q96A23-2;Q96A23	.;CPNE4_HUMAN	L	296;296;314;296;314	ENSP00000421705:F296L;ENSP00000411904:F296L;ENSP00000424853:F314L;ENSP00000423811:F296L;ENSP00000421646:F314L	ENSP00000411904:F296L	F	-	3	2	CPNE4	132776644	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.567000	0.67378	2.861000	0.98227	0.655000	0.94253	TTC		0.423	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
PRR23B	389151	hgsc.bcm.edu	37	3	138738751	138738751	+	Silent	SNP	C	C	T	rs182603479		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14179	0.0		0.0	False		,,,				2504	0.0																0			3											19.0	23.0	22.0					3																	138738751		2182	4274	6456	140221441	SO:0001819	synonymous_variant	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.753G>A	3.37:g.138738751C>T			140221441	B2RNV9	Silent	SNP	ENST00000329447.5	37	CCDS33868.1																																																																																				0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
XRN1	54464	hgsc.bcm.edu	37	3	142151541	142151541	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:142151541A>G	ENST00000264951.4	-	2	387	c.270T>C	c.(268-270)ccT>ccC	p.P90P	XRN1_ENST00000392981.2_Silent_p.P90P|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000463916.1_Silent_p.P90P	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	90					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTTTTGCTCGAGGAGCCACAC	0.333																																																	0			3											43.0	40.0	41.0					3																	142151541		2203	4299	6502	143634231	SO:0001819	synonymous_variant	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.270T>C	3.37:g.142151541A>G			143634231	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
ATR	545	hgsc.bcm.edu	37	3	142176504	142176504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:142176504G>A	ENST00000350721.4	-	45	7718	c.7597C>T	c.(7597-7599)Cga>Tga	p.R2533*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R2469*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2533	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R2533*(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATGCTCTTCGAAAAAGACCC	0.403								Other conserved DNA damage response genes																																									1	Substitution - Nonsense(1)	central_nervous_system(1)	3											103.0	96.0	99.0					3																	142176504		2203	4300	6503	143659194	SO:0001587	stop_gained	390502			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7597C>T	3.37:g.142176504G>A	ENSP00000343741:p.Arg2533*		143659194	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.275224|5.275224	0.95459|0.95459	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75087	.|0.3802	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73694	.|-0.3902	.|3	0.02654|.	T|.	1|.	-9.8182|-9.8182	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2533;2469|379	.|.	ENSP00000343741:R2533X|.	R|S	-|-	1|2	2|0	ATR|ATR	143659194|143659194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.147000|4.147000	0.58078|0.58078	2.600000|2.600000	0.87896|0.87896	0.484000|0.484000	0.47621|0.47621	CGA|TCG		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
LRRC15	131578	hgsc.bcm.edu	37	3	194080475	194080475	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:194080475G>A	ENST00000347624.3	-	2	1383	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	LRRC15_ENST00000439944.2_Missense_Mutation_p.P439L|LRRC15_ENST00000428839.1_Missense_Mutation_p.P439L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	433	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTTGCGGAGCGGAAGGATGTC	0.572																																																	0			3											69.0	60.0	63.0					3																	194080475		2203	4300	6503	195561770	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1298C>T	3.37:g.194080475G>A	ENSP00000306276:p.Pro433Leu		195561770	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626363	0.66901	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.23552	1.9;1.9;1.9	5.35	5.35	0.76521	Cysteine-rich flanking region, C-terminal (1);	0.084010	0.51477	D	0.000093	T	0.50446	0.1616	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.72338	0.607;0.977	T	0.48703	-0.9012	10	0.10636	T	0.68	.	15.7791	0.78246	0.0:0.1363:0.8637:0.0	.	433;439	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	L	433;439;439	ENSP00000306276:P433L;ENSP00000389128:P439L;ENSP00000413707:P439L	ENSP00000306276:P433L	P	-	2	0	LRRC15	195561770	1.000000	0.71417	0.654000	0.29608	0.748000	0.42578	5.572000	0.67411	2.680000	0.91292	0.655000	0.94253	CCG		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
MUC4	4585	hgsc.bcm.edu	37	3	195475799	195475799	+	Silent	SNP	C	C	T	rs3205933	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:195475799C>T	ENST00000346145.4	-	23	3339	c.3300G>A	c.(3298-3300)caG>caA	p.Q1100Q	MUC4_ENST00000475231.1_Silent_p.Q5284Q|MUC4_ENST00000349607.4_Silent_p.Q1049Q|MUC4_ENST00000463781.3_Silent_p.Q5336Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2093					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGCAGGTGCTGGCACTGGC	0.652													.|||	266	0.053115	0.0151	0.072	5008	,	,		26136	0.001		0.1382	False		,,,				2504	0.0573																0			3						C	,,	128,4278		0,128,2075	57.0	54.0	55.0		3300,16008,3147	3.2	1.0	3	dbSNP_105	55	1093,7507		7,1079,3214	no	coding-synonymous,coding-synonymous,coding-synonymous	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	,,	7,1207,5289	TT,TC,CC		12.7093,2.9051,9.388	,,	1100/1177,5336/5413,1049/1126	195475799	1221,11785	2203	4300	6503	196961470	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3300G>A	3.37:g.195475799C>T			196961470	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																				0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																																	0			3																																								196994784	SO:0001628	intergenic_variant	4585																															Unknown.37:g.0A>G			196994784		Missense_Mutation	SNP		37																																																																																				0	0								
TNK2	10188	hgsc.bcm.edu	37	3	195611844	195611844	+	Missense_Mutation	SNP	G	G	A	rs3747673	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr3:195611844G>A	ENST00000333602.6	-	4	912	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	TNK2_ENST00000381916.2_Missense_Mutation_p.R162W|TNK2_ENST00000428187.1_Missense_Mutation_p.R131W|TNK2_ENST00000316664.3_Missense_Mutation_p.R99W|TNK2_ENST00000392400.1_Missense_Mutation_p.R99W|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	99	SAM-like domain.		R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Tyr-284 leading to activation of AKT1). {ECO:0000269|PubMed:17344846}.|R -> W (in dbSNP:rs3747673). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GAGGTCTTCCGGAAGGTGCTC	0.642													G|||	89	0.0177716	0.0	0.0	5008	,	,		14138	0.0853		0.0	False		,,,				2504	0.0031																0			3						G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	47.0	46.0	46.0		484,295	3.0	1.0	3	dbSNP_107	46	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TNK2	NM_001010938.1,NM_005781.4	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	162/1087,99/1039	195611844	2,13004	2203	4300	6503	197096241	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.295C>T	3.37:g.195611844G>A	ENSP00000329425:p.Arg99Trp		197096241	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	67	0.030677655677655676	0	0.0	0	0.0	67	0.11713286713286714	0	0.0	G	16.63	3.175765	0.57692	0.0	2.33E-4	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.76060	-0.96;-0.99;-0.97;-0.96;-0.96	4.92	2.99	0.34606	Protein kinase-like domain (1);	0.237632	0.34507	N	0.003909	T	0.02727	0.0082	L	0.29908	0.895	0.22531	P	0.999015041	D;B;B;B	0.63880	0.993;0.005;0.083;0.009	P;B;B;B	0.56751	0.805;0.0;0.011;0.003	T	0.53019	-0.8497	9	0.66056	D	0.02	.	9.0651	0.36458	0.083:0.0:0.7713:0.1457	rs3747673;rs3747673	99;99;162;131	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	W	99;162;131;99;99	ENSP00000329425:R99W;ENSP00000371341:R162W;ENSP00000392546:R131W;ENSP00000376201:R99W;ENSP00000323216:R99W	ENSP00000323216:R99W	R	-	1	2	TNK2	197096241	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.234000	0.51320	1.198000	0.43158	0.407000	0.27541	CGG		0.642	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
KDM5A	5927	hgsc.bcm.edu	37	12	394797	394797	+	Missense_Mutation	SNP	T	T	C	rs79230839		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:394797T>C	ENST00000399788.2	-	28	5260	c.4898A>G	c.(4897-4899)gAt>gGt	p.D1633G	KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1633	Interaction with LMO2. {ECO:0000269|PubMed:9129143}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAACCACTCATCACAGCCACC	0.403			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0			12											119.0	112.0	114.0					12																	394797		2003	4175	6178	265058	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4898A>G	12.37:g.394797T>C	ENSP00000382688:p.Asp1633Gly		265058	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739468	0.69304	.	.	ENSG00000073614	ENST00000399788	T	0.63913	-0.07	5.09	5.09	0.68999	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.109676	0.64402	D	0.000014	T	0.49898	0.1584	L	0.37850	1.14	0.80722	D	1	P	0.46784	0.884	B	0.35114	0.196	T	0.57997	-0.7714	10	0.56958	D	0.05	-18.1611	15.166	0.72825	0.0:0.0:0.0:1.0	.	1633	P29375	KDM5A_HUMAN	G	1633	ENSP00000382688:D1633G	ENSP00000382688:D1633G	D	-	2	0	KDM5A	265058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.049000	0.60858	0.460000	0.39030	GAT		0.403	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
GYS2	2998	hgsc.bcm.edu	37	12	21693450	21693450	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:21693450G>A	ENST00000261195.2	-	14	1957	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	568					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAGAAACTTAGTCAGCTGATT	0.428																																					Colon(149;9 1820 3690 10544 50424)												0			12											128.0	131.0	130.0					12																	21693450		2203	4300	6503	21584717	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1703C>T	12.37:g.21693450G>A	ENSP00000261195:p.Thr568Ile		21584717	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784949	0.90282	.	.	ENSG00000111713	ENST00000261195	T	0.66099	-0.19	5.1	5.1	0.69264	.	0.052363	0.85682	N	0.000000	T	0.76630	0.4014	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78513	-0.2175	10	0.87932	D	0	-15.1571	18.6922	0.91588	0.0:0.0:1.0:0.0	.	568	P54840	GYS2_HUMAN	I	568	ENSP00000261195:T568I	ENSP00000261195:T568I	T	-	2	0	GYS2	21584717	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.640000	0.98453	2.641000	0.89580	0.650000	0.86243	ACT		0.428	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
PPFIBP1	8496	hgsc.bcm.edu	37	12	27809550	27809550	+	Splice_Site	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:27809550A>G	ENST00000318304.8	+	10	1074	c.791A>G	c.(790-792)gAt>gGt	p.D264G	PPFIBP1_ENST00000228425.6_Splice_Site_p.D233G|PPFIBP1_ENST00000542629.1_Splice_Site_p.D233G|PPFIBP1_ENST00000537927.1_Splice_Site_p.D111G	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	264					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACTTGTAGGATGAACTGGCA	0.318																																																	0			12											54.0	57.0	56.0					12																	27809550		2203	4299	6502	27700817	SO:0001630	splice_region_variant	8496			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.790-1A>G	12.37:g.27809550A>G			27700817	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.272027	0.40194	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.32515	2.1;1.47;1.45;1.87;2.1;1.9	5.05	5.05	0.67936	.	0.463445	0.15765	U	0.245738	T	0.30417	0.0764	L	0.36672	1.1	0.44117	D	0.996891	B;B;P;B	0.39920	0.101;0.43;0.695;0.411	B;B;B;B	0.42319	0.12;0.193;0.383;0.354	T	0.06463	-1.0825	10	0.52906	T	0.07	-5.6884	13.3332	0.60500	1.0:0.0:0.0:0.0	.	111;264;233;233	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	G	235;233;92;111;264;233;233	ENSP00000445822:D233G;ENSP00000444304:D92G;ENSP00000445425:D111G;ENSP00000314724:D264G;ENSP00000443442:D233G;ENSP00000228425:D233G	ENSP00000228425:D233G	D	+	2	0	PPFIBP1	27700817	1.000000	0.71417	0.977000	0.42913	0.812000	0.45895	6.463000	0.73530	2.022000	0.59522	0.533000	0.62120	GAT		0.318	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Missense_Mutation
DDX23	9416	hgsc.bcm.edu	37	12	49231064	49231065	+	Splice_Site	DNP	AG	AG	GT			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A|G	A|G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:49231064_49231065AG>GT	ENST00000308025.3	-	8	944_945	c.865_866CT>AC	c.(865-867)CTg>ACg	p.L289T	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	289					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						AGCCACTCACAGGGGGTTGTAG	0.505																																																	0			12																																								47517331|47517332	SO:0001630	splice_region_variant	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.865_866delinsGT	12.37:g.49231064_49231065delinsGT			47517331|47517332	B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1																																																																																				0.505	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	Missense_Mutation
ITGB7	3695	hgsc.bcm.edu	37	12	53586993	53586993	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:53586993G>T	ENST00000267082.5	-	12	1888	c.1657C>A	c.(1657-1659)Cag>Aag	p.Q553K	ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.Q553K|ITGB7_ENST00000550743.2_Intron	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	553	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGAGCTCTGTCCACTGCAG	0.632																																																	0			12											59.0	53.0	55.0					12																	53586993		2203	4300	6503	51873260	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1657C>A	12.37:g.53586993G>T	ENSP00000267082:p.Gln553Lys		51873260	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	9.650	1.141417	0.21205	.	.	ENSG00000139626	ENST00000422257;ENST00000267082	D;D	0.89810	-2.57;-2.57	4.59	4.59	0.56863	.	0.185362	0.26700	N	0.022950	T	0.74397	0.3711	N	0.04746	-0.17	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.68743	-0.5328	10	0.17369	T	0.5	.	10.3408	0.43877	0.0917:0.0:0.9083:0.0	.	553	P26010	ITB7_HUMAN	K	553	ENSP00000408741:Q553K;ENSP00000267082:Q553K	ENSP00000267082:Q553K	Q	-	1	0	ITGB7	51873260	0.001000	0.12720	1.000000	0.80357	0.754000	0.42855	0.386000	0.20702	2.542000	0.85734	0.563000	0.77884	CAG		0.632	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
COPZ1	22818	hgsc.bcm.edu	37	12	54741610	54741610	+	Missense_Mutation	SNP	A	A	G	rs76187942		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:54741610A>G	ENST00000262061.2	+	6	414	c.377A>G	c.(376-378)gAt>gGt	p.D126G	COPZ1_ENST00000548281.1_3'UTR|RP11-968A15.8_ENST00000553061.1_RNA|RN7SL744P_ENST00000577604.1_RNA|COPZ1_ENST00000553231.1_Missense_Mutation_p.D103G|COPZ1_ENST00000455864.2_Missense_Mutation_p.D103G|COPZ1_ENST00000549116.1_Missense_Mutation_p.D68G|COPZ1_ENST00000549043.1_Missense_Mutation_p.D134G|COPZ1_ENST00000416254.2_Missense_Mutation_p.D75G|COPZ1_ENST00000552218.1_Missense_Mutation_p.D147G|COPZ1_ENST00000551779.1_Missense_Mutation_p.D126G|COPZ1_ENST00000552362.1_Missense_Mutation_p.D126G|COPZ1_ENST00000548753.1_Missense_Mutation_p.D38G	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	126					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TTGGCTGTGGATGAAATTGTA	0.498																																																	0			12											207.0	203.0	205.0					12																	54741610		2203	4300	6503	53027877	SO:0001583	missense	22818			AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.377A>G	12.37:g.54741610A>G	ENSP00000262061:p.Asp126Gly		53027877	B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Missense_Mutation	SNP	ENST00000262061.2	37	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704924	0.30232	.	.	ENSG00000111481	ENST00000262061;ENST00000549043;ENST00000552218;ENST00000553231;ENST00000552362;ENST00000455864;ENST00000416254;ENST00000549116;ENST00000551779;ENST00000548753;ENST00000550713	.	.	.	5.24	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.86041	0.5838	H	0.97023	3.925	0.80722	D	1	B;B;D;B	0.89917	0.005;0.209;1.0;0.006	B;P;D;B	0.97110	0.011;0.674;1.0;0.021	D	0.87386	0.2360	9	0.72032	D	0.01	-4.0602	9.3988	0.38420	0.9147:0.0:0.0853:0.0	.	103;134;75;126	B4DDX8;F8VWL5;B4DHZ0;P61923	.;.;.;COPZ1_HUMAN	G	126;134;147;103;126;103;75;68;126;38;134	.	ENSP00000262061:D126G	D	+	2	0	COPZ1	53027877	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	8.476000	0.90421	0.941000	0.37499	-0.250000	0.11733	GAT		0.498	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057	
ITGA5	3678	hgsc.bcm.edu	37	12	54792386	54792386	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:54792386G>A	ENST00000293379.4	-	28	3199	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	980					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R980S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTCACCTGACGCTCTTTTTGG	0.582																																																	1	Substitution - Missense(1)	lung(1)	12											76.0	66.0	70.0					12																	54792386		2203	4300	6503	53078653	SO:0001583	missense	3678				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2938C>T	12.37:g.54792386G>A	ENSP00000293379:p.Arg980Cys		53078653	Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	7.962	0.747141	0.15710	.	.	ENSG00000161638	ENST00000293379	T	0.24908	1.83	5.27	4.38	0.52667	.	0.410669	0.25798	N	0.028221	T	0.18045	0.0433	L	0.34521	1.04	0.09310	N	0.999999	P	0.44816	0.844	B	0.36418	0.224	T	0.08764	-1.0706	10	0.44086	T	0.13	.	12.2137	0.54394	0.0838:0.0:0.9162:0.0	.	980	P08648	ITA5_HUMAN	C	980	ENSP00000293379:R980C	ENSP00000293379:R980C	R	-	1	0	ITGA5	53078653	0.052000	0.20516	0.101000	0.21167	0.441000	0.31987	1.385000	0.34408	1.378000	0.46305	-0.137000	0.14449	CGT		0.582	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
MMP19	4327	hgsc.bcm.edu	37	12	56234594	56234594	+	Missense_Mutation	SNP	C	C	T	rs151295753	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:56234594C>T	ENST00000322569.4	-	4	468	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	MMP19_ENST00000409200.3_Missense_Mutation_p.R126Q|MMP19_ENST00000548629.1_Missense_Mutation_p.R103Q|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000547487.1_5'Flank	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	126					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAGGGCTGCCCGGGCTGTGTG	0.577																																																	0			12						C	GLN/ARG	0,4406		0,0,2203	95.0	88.0	91.0		377	4.0	1.0	12	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MMP19	NM_002429.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	126/509	56234594	1,13005	2203	4300	6503	54520861	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.377G>A	12.37:g.56234594C>T	ENSP00000313437:p.Arg126Gln		54520861	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815820	0.50527	0.0	1.16E-4	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.21932	2.5;1.98;2.5	5.8	3.97	0.46021	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.395949	0.28659	N	0.014561	T	0.13072	0.0317	L	0.41356	1.27	0.31688	N	0.642258	P;P	0.44478	0.836;0.473	B;B	0.29716	0.106;0.072	T	0.14144	-1.0483	10	0.30078	T	0.28	.	11.2207	0.48853	0.0:0.8459:0.0:0.1541	.	126;126	B4E030;Q99542	.;MMP19_HUMAN	Q	126;103;126	ENSP00000313437:R126Q;ENSP00000446979:R103Q;ENSP00000386625:R126Q	ENSP00000313437:R126Q	R	-	2	0	MMP19	54520861	0.014000	0.17966	0.960000	0.40013	0.766000	0.43426	1.117000	0.31234	1.468000	0.48064	-0.137000	0.14449	CGG		0.577	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
GLI1	2735	hgsc.bcm.edu	37	12	57859575	57859575	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:57859575C>T	ENST00000228682.2	+	7	720	c.629C>T	c.(628-630)cCc>cTc	p.P210L	GLI1_ENST00000543426.1_Missense_Mutation_p.P82L|GLI1_ENST00000546141.1_Missense_Mutation_p.P169L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	210			P -> A (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCTAGGATCCCCTGTTGGGG	0.562																																					Pancreas(157;841 1936 10503 41495 50368)												0			12											97.0	95.0	96.0					12																	57859575		2203	4300	6503	56145842	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.629C>T	12.37:g.57859575C>T	ENSP00000228682:p.Pro210Leu		56145842	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541800	0.45280	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.73575	-0.76;2.66;2.56;2.65;2.65	4.45	2.36	0.29203	.	0.249501	0.28021	N	0.016919	T	0.60340	0.2261	L	0.39898	1.24	0.45378	D	0.998362	B	0.20164	0.042	B	0.22601	0.04	T	0.45571	-0.9252	10	0.17369	T	0.5	.	7.6743	0.28476	0.2072:0.7052:0.0:0.0877	.	210	P08151	GLI1_HUMAN	L	82;82;210;169;169;82	ENSP00000436671:P82L;ENSP00000437607:P82L;ENSP00000228682:P210L;ENSP00000441006:P169L;ENSP00000434408:P169L	ENSP00000228682:P210L	P	+	2	0	GLI1	56145842	0.981000	0.34729	0.928000	0.36995	0.948000	0.59901	2.161000	0.42358	0.437000	0.26423	0.591000	0.81541	CCC		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
CAND1	55832	hgsc.bcm.edu	37	12	67692814	67692814	+	Silent	SNP	C	C	T	rs367644026		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:67692814C>T	ENST00000545606.1	+	7	1376	c.939C>T	c.(937-939)taC>taT	p.Y313Y		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	313					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATTATAATTACgatgatgaag	0.294																																																	0			12						C		1,4397	2.1+/-5.4	0,1,2198	56.0	54.0	55.0		939	0.3	1.0	12		55	0,8598		0,0,4299	no	coding-synonymous	CAND1	NM_018448.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		313/1231	67692814	1,12995	2199	4299	6498	65979081	SO:0001819	synonymous_variant	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.939C>T	12.37:g.67692814C>T			65979081	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	CCDS8977.1																																																																																				0.294	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
PTPRR	5801	hgsc.bcm.edu	37	12	71050577	71050577	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:71050577C>T	ENST00000283228.2	-	13	2239	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E	PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.G351E|PTPRR_ENST00000549308.1_Missense_Mutation_p.G351E|PTPRR_ENST00000342084.4_Missense_Mutation_p.G484E|PTPRR_ENST00000378778.1_Missense_Mutation_p.G390E	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	596	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATAAAACACCCTGTTCTACC	0.383																																																	0			12											179.0	152.0	161.0					12																	71050577		2203	4300	6503	69336844	SO:0001583	missense	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1787G>A	12.37:g.71050577C>T	ENSP00000283228:p.Gly596Glu		69336844	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805795	0.90623	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000055	D	0.86171	0.5869	H	0.99682	4.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92537	0.6038	10	0.87932	D	0	-13.5374	19.3521	0.94393	0.0:1.0:0.0:0.0	.	484;390;596	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	E	351;596;390;484;351	ENSP00000391750:G351E;ENSP00000283228:G596E;ENSP00000368054:G390E;ENSP00000339605:G484E;ENSP00000446943:G351E	ENSP00000283228:G596E	G	-	2	0	PTPRR	69336844	1.000000	0.71417	0.855000	0.33649	0.972000	0.66771	7.125000	0.77193	2.573000	0.86826	0.655000	0.94253	GGG		0.383	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
POLR3B	55703	hgsc.bcm.edu	37	12	106804719	106804719	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:106804719G>A	ENST00000228347.4	+	12	1304	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.R303Q|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	361					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R361Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTAACAAGCGACTGGAATTG	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)	12											91.0	92.0	92.0					12																	106804719		2203	4300	6503	105328849	SO:0001583	missense	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1082G>A	12.37:g.106804719G>A	ENSP00000228347:p.Arg361Gln		105328849	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532310	0.85812	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.77489	-1.1;-1.1;-1.1	5.42	4.53	0.55603	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90635	0.7063	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92986	0.6410	10	0.87932	D	0	-12.2144	14.5055	0.67750	0.0711:0.0:0.9289:0.0	.	361	Q9NW08	RPC2_HUMAN	Q	361;361;303;119;24	ENSP00000228347:R361Q;ENSP00000445721:R303Q;ENSP00000448398:R119Q	ENSP00000228347:R361Q	R	+	2	0	POLR3B	105328849	1.000000	0.71417	0.992000	0.48379	0.758000	0.43043	9.368000	0.97152	1.430000	0.47334	-0.266000	0.10368	CGA		0.348	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
RPH3A	22895	hgsc.bcm.edu	37	12	113266158	113266158	+	Missense_Mutation	SNP	G	G	A	rs139903605		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:113266158G>A	ENST00000389385.4	+	3	532	c.35G>A	c.(34-36)cGt>cAt	p.R12H	RPH3A_ENST00000420983.2_Missense_Mutation_p.R12H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R12H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R12H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R12H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R12H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R12H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	12					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGTTCTAACCGTTGGATGTAC	0.473																																																	0			12						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	185.0	159.0	168.0		35,35	5.7	0.7	12	dbSNP_134	168	0,8600		0,0,4300	no	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	12/695,12/691	113266158	1,13005	2203	4300	6503	111750541	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.35G>A	12.37:g.113266158G>A	ENSP00000374036:p.Arg12His		111750541	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943641	0.73672	2.27E-4	0.0	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000546426;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.77750	-0.2;-0.2;-1.12;-0.15;-0.2;-0.58;-0.2	5.7	5.7	0.88788	Rabphilin-3A effector, zinc-binding (1);	0.248756	0.28606	N	0.014742	D	0.86222	0.5881	M	0.63843	1.955	0.51233	D	0.999911	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.994;0.997;0.997;0.994	D	0.86144	0.1583	10	0.54805	T	0.06	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	12;12;12;12	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	12	ENSP00000440384:R12H;ENSP00000374036:R12H;ENSP00000413254:R12H;ENSP00000448297:R12H;ENSP00000405357:R12H;ENSP00000450347:R12H;ENSP00000408889:R12H	ENSP00000374036:R12H	R	+	2	0	RPH3A	111750541	0.998000	0.40836	0.690000	0.30148	0.403000	0.30841	4.419000	0.59835	2.696000	0.92011	0.655000	0.94253	CGT		0.473	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
RNF10	9921	hgsc.bcm.edu	37	12	120998652	120998652	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:120998652A>G	ENST00000325954.4	+	7	1552	c.1091A>G	c.(1090-1092)gAg>gGg	p.E364G	RNF10_ENST00000413266.2_Missense_Mutation_p.E364G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	364					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACACTCCCGAGTCCTGCTTT	0.527																																																	0			12											74.0	67.0	69.0					12																	120998652		2203	4300	6503	119483035	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1091A>G	12.37:g.120998652A>G	ENSP00000322242:p.Glu364Gly		119483035	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.112575|4.112575	0.77210|0.77210	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266|ENST00000542207;ENST00000537740	D;D|.	0.91011|.	-2.77;-2.73|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.047268|.	0.85682|.	D|.	0.000000|.	T|T	0.76263|0.76263	0.3963|0.3963	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.983|.	D;P|.	0.63283|.	0.913;0.765|.	T|T	0.75952|0.75952	-0.3136|-0.3136	10|5	0.87932|.	D|.	0|.	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	364;364|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	G|G	364;364;94;364|162;42	ENSP00000322242:E364G;ENSP00000415682:E364G|.	ENSP00000322242:E364G|.	E|S	+|+	2|1	0|0	RNF10|RNF10	119483035|119483035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.735000|8.735000	0.91549|0.91549	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.527	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		
AACS	65985	hgsc.bcm.edu	37	12	125591727	125591727	+	Missense_Mutation	SNP	C	C	G	rs140471021	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:125591727C>G	ENST00000316519.6	+	8	1034	c.828C>G	c.(826-828)ttC>ttG	p.F276L	AACS_ENST00000261686.6_Missense_Mutation_p.F276L|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	276					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGCTGGAGTTCGAGCAGCTGC	0.612																																																	0			12											82.0	72.0	76.0					12																	125591727		2203	4300	6503	124157680	SO:0001583	missense	65985			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.828C>G	12.37:g.125591727C>G	ENSP00000324842:p.Phe276Leu		124157680	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593044	0.86953	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T;T	0.46451	2.93;2.93;1.05;0.87	5.45	-2.17	0.07059	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	H	0.94503	3.545	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.74348	0.979;0.983	T	0.72312	-0.4331	10	0.72032	D	0.01	.	12.0299	0.53392	0.0:0.3172:0.0:0.6828	.	276;276	Q86V21-2;Q86V21	.;AACS_HUMAN	L	276;276;132;57;95	ENSP00000324842:F276L;ENSP00000261686:F276L;ENSP00000442956:F57L;ENSP00000392967:F95L	ENSP00000261686:F276L	F	+	3	2	AACS	124157680	0.620000	0.27068	0.984000	0.44739	0.963000	0.63663	-0.330000	0.07925	-0.704000	0.05042	0.561000	0.74099	TTC		0.612	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
SPTBN5	51332	hgsc.bcm.edu	37	15	42144501	42144501	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:42144501A>G	ENST00000320955.6	-	62	10690	c.10463T>C	c.(10462-10464)cTc>cCc	p.L3488P	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3488					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGCAGCAGGAGCTCCTGTTC	0.647																																																	0			15											15.0	19.0	18.0					15																	42144501		2085	4222	6307	39931793	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10463T>C	15.37:g.42144501A>G	ENSP00000317790:p.Leu3488Pro		39931793		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	8.499	0.863884	0.17250	.	.	ENSG00000137877	ENST00000320955	T	0.65732	-0.17	2.9	-2.77	0.05877	.	3.444720	0.01989	U	0.045349	T	0.47875	0.1469	L	0.34521	1.04	0.22858	N	0.998645	B	0.14438	0.01	B	0.14023	0.01	T	0.18304	-1.0341	10	0.45353	T	0.12	.	3.2084	0.06674	0.3948:0.0:0.3995:0.2057	.	3488	Q9NRC6	SPTN5_HUMAN	P	3488	ENSP00000317790:L3488P	ENSP00000317790:L3488P	L	-	2	0	SPTBN5	39931793	0.002000	0.14202	0.001000	0.08648	0.085000	0.17905	0.273000	0.18662	-0.805000	0.04404	0.533000	0.62120	CTC		0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
USP8	9101	hgsc.bcm.edu	37	15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:50782647C>A	ENST00000396444.3	+	14	2497	c.2159C>A	c.(2158-2160)cCa>cAa	p.P720Q	USP8_ENST00000425032.3_Missense_Mutation_p.P614Q|USP8_ENST00000433963.1_Missense_Mutation_p.P720Q|USP8_ENST00000307179.4_Missense_Mutation_p.P720Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P720Q(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)	15											114.0	114.0	114.0					15																	50782647		2196	4294	6490	48569939	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2159C>A	15.37:g.50782647C>A	ENSP00000379721:p.Pro720Gln		48569939	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145451	0.94603	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	T	0.03463	-1.1034	10	0.52906	T	0.07	-13.2942	19.9733	0.97292	0.0:1.0:0.0:0.0	.	614;720	B4DKA8;P40818	.;UBP8_HUMAN	Q	720;720;720;614	ENSP00000379721:P720Q;ENSP00000405537:P720Q;ENSP00000302239:P720Q;ENSP00000412682:P614Q	ENSP00000302239:P720Q	P	+	2	0	USP8	48569939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.790000	0.95986	0.650000	0.86243	CCA		0.478	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
MYO5A	4644	hgsc.bcm.edu	37	15	52667589	52667589	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:52667589A>G	ENST00000399231.3	-	20	2732	c.2489T>C	c.(2488-2490)gTc>gCc	p.V830A	MYO5A_ENST00000553916.1_Missense_Mutation_p.V830A|MYO5A_ENST00000356338.6_Missense_Mutation_p.V830A|MYO5A_ENST00000399233.2_Missense_Mutation_p.V830A|MYO5A_ENST00000358212.6_Missense_Mutation_p.V830A	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	830	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTCCTGCGGACCACATACAT	0.458																																																	0			15											107.0	101.0	103.0					15																	52667589		1928	4126	6054	50454881	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2489T>C	15.37:g.52667589A>G	ENSP00000382177:p.Val830Ala		50454881	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	A	4.425	0.078562	0.08533	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.38	1.82	0.25136	.	0.471910	0.22334	N	0.061423	T	0.04724	0.0128	N	0.02129	-0.67	0.20307	N	0.999912	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43523	-0.9386	10	0.02654	T	1	.	8.9123	0.35561	0.7143:0.0:0.2857:0.0	.	830;830	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	A	830;364;830;830;830;460;830	ENSP00000382177:V830A;ENSP00000382179:V830A;ENSP00000348693:V830A;ENSP00000350945:V830A;ENSP00000451109:V830A	ENSP00000348693:V830A	V	-	2	0	MYO5A	50454881	0.004000	0.15560	0.133000	0.22050	0.892000	0.51952	1.104000	0.31074	0.341000	0.23771	0.450000	0.29827	GTC		0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
RNF111	54778	hgsc.bcm.edu	37	15	59373358	59373358	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:59373358T>C	ENST00000557998.1	+	8	2459	c.2172T>C	c.(2170-2172)ctT>ctC	p.L724L	RNF111_ENST00000348370.4_Silent_p.L724L|RNF111_ENST00000561186.1_Silent_p.L724L|RNF111_ENST00000434298.1_Silent_p.L724L|RNF111_ENST00000559209.1_Silent_p.L724L	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	724	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTCAGCATCTTCCTCCTACAC	0.498																																					NSCLC(72;983 1365 10746 34387 47081)												0			15											297.0	241.0	260.0					15																	59373358		2192	4291	6483	57160650	SO:0001819	synonymous_variant	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2172T>C	15.37:g.59373358T>C			57160650	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	CCDS58366.1																																																																																				0.498	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
ANKDD1A	348094	hgsc.bcm.edu	37	15	65219113	65219113	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:65219113C>T	ENST00000380230.3	+	6	514	c.485C>T	c.(484-486)gCg>gTg	p.A162V	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.A71V|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A71V|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A162V|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A162V|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	162					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGGAGGACGGCGTTTCACAGG	0.622																																																	0			15											119.0	107.0	111.0					15																	65219113		2202	4299	6501	63006166	SO:0001583	missense	348094				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.485C>T	15.37:g.65219113C>T	ENSP00000369579:p.Ala162Val		63006166	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373391	0.42105	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.74106	2.16;2.16;2.16;-0.81;2.13	4.23	4.23	0.50019	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000015	T	0.81456	0.4826	L	0.56199	1.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.991;0.996;0.998;0.984	T	0.80139	-0.1507	10	0.39692	T	0.17	-21.6654	12.2937	0.54833	0.0:1.0:0.0:0.0	.	162;68;162;162	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	V	162;162;162;71;71	ENSP00000369579:A162V;ENSP00000350329:A162V;ENSP00000379070:A162V;ENSP00000420999:A71V;ENSP00000379073:A71V	ENSP00000350329:A162V	A	+	2	0	ANKDD1A	63006166	0.994000	0.37717	0.949000	0.38748	0.882000	0.50991	3.727000	0.54984	2.363000	0.80096	0.561000	0.74099	GCG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
IQCH	64799	hgsc.bcm.edu	37	15	67664873	67664873	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:67664873G>A	ENST00000335894.4	+	9	1244	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	IQCH_ENST00000358767.3_Missense_Mutation_p.R220H|IQCH_ENST00000360277.4_Missense_Mutation_p.R145H|IQCH_ENST00000546225.1_Missense_Mutation_p.R141H	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	393	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTCTTTTATCGCCAGCAGAAG	0.458																																																	0			15											104.0	106.0	105.0					15																	67664873		2201	4299	6500	65451927	SO:0001583	missense	128153			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1178G>A	15.37:g.67664873G>A	ENSP00000336861:p.Arg393His		65451927	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002111	0.35320	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.74002	0.65;0.7;0.65;-0.8	6.03	2.11	0.27256	.	0.181773	0.46442	D	0.000293	T	0.82199	0.4985	M	0.78801	2.425	0.09310	N	1	B;B;B;D;D	0.89917	0.257;0.139;0.083;1.0;1.0	B;B;B;D;D	0.81914	0.037;0.018;0.018;0.983;0.995	T	0.70285	-0.4914	10	0.37606	T	0.19	-6.1117	7.3491	0.26680	0.19:0.0:0.69:0.12	.	220;141;145;393;220	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	H	220;141;393;145	ENSP00000351617:R220H;ENSP00000444118:R141H;ENSP00000336861:R393H;ENSP00000353419:R145H	ENSP00000336861:R393H	R	+	2	0	IQCH	65451927	0.651000	0.27340	0.034000	0.17996	0.571000	0.35966	1.879000	0.39618	0.440000	0.26502	0.655000	0.94253	CGC		0.458	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
ITGA11	22801	hgsc.bcm.edu	37	15	68613809	68613809	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:68613809C>T	ENST00000315757.7	-	19	2441	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	ITGA11_ENST00000423218.2_Silent_p.E785E	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	785					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGACACAGTGCTCATCCTCAT	0.647																																																	0			15											49.0	61.0	57.0					15																	68613809		2126	4230	6356	66400863	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2355G>A	15.37:g.68613809C>T			66400863	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.647	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79058090	79058090	+	Missense_Mutation	SNP	A	A	G	rs2929158	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:79058090A>G	ENST00000388820.4	-	19	4373	c.4163T>C	c.(4162-4164)gTc>gCc	p.V1388A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1388					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCTCAGGGACTCTGTGGCT	0.687																																																	0			15											22.0	29.0	26.0					15																	79058090		2166	4248	6414	76845145	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4163T>C	15.37:g.79058090A>G	ENSP00000373472:p.Val1388Ala		76845145	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	249	0.11401098901098901	2	0.0040650406504065045	43	0.11878453038674033	198	0.34615384615384615	6	0.0079155672823219	a	0.637	-0.814774	0.02776	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.65	-3.31	0.04988	.	0.591257	0.16562	N	0.209003	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	9	0.15066	T	0.55	.	0.8256	0.01120	0.1904:0.2419:0.3106:0.2571	rs2929158	1388	Q9UKP4	ATS7_HUMAN	A	1388	ENSP00000373472:V1388A	ENSP00000373472:V1388A	V	-	2	0	ADAMTS7	76845145	0.000000	0.05858	0.052000	0.19188	0.008000	0.06430	-1.706000	0.01895	-0.534000	0.06315	-2.103000	0.00360	GTC		0.687	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
IQGAP1	8826	hgsc.bcm.edu	37	15	91017851	91017851	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:91017851C>A	ENST00000268182.5	+	23	2834	c.2710C>A	c.(2710-2712)Cag>Aag	p.Q904K	IQGAP1_ENST00000560020.1_3'UTR|IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q332K	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	904					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCGTTCTAACCAGCAGCTGGA	0.473																																																	0			15											113.0	100.0	104.0					15																	91017851		2198	4298	6496	88818855	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2710C>A	15.37:g.91017851C>A	ENSP00000268182:p.Gln904Lys		88818855	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531393	0.85706	.	.	ENSG00000140575	ENST00000268182	T	0.02606	4.23	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.76574	2.34	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	T	0.03818	-1.1001	10	0.42905	T	0.14	-22.6016	16.9844	0.86336	0.0:1.0:0.0:0.0	.	904	P46940	IQGA1_HUMAN	K	904	ENSP00000268182:Q904K	ENSP00000268182:Q904K	Q	+	1	0	IQGAP1	88818855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.773000	0.68898	2.548000	0.85928	0.591000	0.81541	CAG		0.473	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
PRC1	9055	hgsc.bcm.edu	37	15	91523594	91523594	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:91523594T>C	ENST00000361188.5	-	7	2059	c.848A>G	c.(847-849)gAa>gGa	p.E283G	PRC1_ENST00000394249.3_Missense_Mutation_p.E283G|PRC1_ENST00000442656.2_Missense_Mutation_p.E242G|PRC1_ENST00000361919.3_Missense_Mutation_p.E283G|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTTCAGTTCTTCCAACCGATC	0.433																																																	0			15											165.0	138.0	147.0					15																	91523594		2198	4298	6496	89324598	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.848A>G	15.37:g.91523594T>C	ENSP00000354679:p.Glu283Gly		89324598		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782459	0.90282	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.04	6.04	0.98038	.	0.048488	0.85682	D	0.000000	T	0.63010	0.2475	M	0.81341	2.54	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76071	0.978;0.978;0.984;0.987	T	0.64935	-0.6290	10	0.48119	T	0.1	.	16.2378	0.82389	0.0:0.0:0.0:1.0	.	242;283;283;283	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	G	283;283;283;242;57	ENSP00000377793:E283G;ENSP00000354618:E283G;ENSP00000354679:E283G;ENSP00000409549:E242G	ENSP00000354679:E283G	E	-	2	0	PRC1	89324598	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	5.799000	0.69101	2.317000	0.78254	0.459000	0.35465	GAA		0.433	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
SLCO3A1	28232	hgsc.bcm.edu	37	15	92671650	92671650	+	Silent	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:92671650C>A	ENST00000318445.6	+	7	1657	c.1443C>A	c.(1441-1443)tcC>tcA	p.S481S	SLCO3A1_ENST00000424469.2_Silent_p.S481S|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	481	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AAACCGATTCCTTCACTCCAG	0.562																																																	0			15											195.0	153.0	167.0					15																	92671650		2198	4298	6496	90472654	SO:0001819	synonymous_variant	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1443C>A	15.37:g.92671650C>A			90472654	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	CCDS10371.1																																																																																				0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
IGF1R	3480	hgsc.bcm.edu	37	15	99491855	99491855	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr15:99491855C>A	ENST00000268035.6	+	20	4251	c.3640C>A	c.(3640-3642)Cag>Aag	p.Q1214K	IGF1R_ENST00000558762.1_Missense_Mutation_p.Q1213K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.Q1214*(1)		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)"""	GCAGCCCTACCAGGGCTTGTC	0.577																																																	1	Substitution - Nonsense(1)	kidney(1)	15											110.0	106.0	107.0					15																	99491855		2197	4297	6494	97309378	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.3640C>A	15.37:g.99491855C>A	ENSP00000268035:p.Gln1214Lys		97309378	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280850	0.95489	.	.	ENSG00000140443	ENST00000268035	D	0.81996	-1.56	5.83	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000038	T	0.80924	0.4717	N	0.10916	0.065	0.80722	D	1	D;P	0.67145	0.996;0.888	P;P	0.60345	0.873;0.596	D	0.85003	0.0901	10	0.72032	D	0.01	.	14.9914	0.71390	0.0:0.9319:0.0:0.0681	.	1213;1214	C9J5X1;P08069	.;IGF1R_HUMAN	K	1214	ENSP00000268035:Q1214K	ENSP00000268035:Q1214K	Q	+	1	0	IGF1R	97309378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	1.483000	0.48342	0.561000	0.74099	CAG		0.577	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
MXRA5	25878	hgsc.bcm.edu	37	X	3235262	3235262	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:3235262G>A	ENST00000217939.6	-	6	6614	c.6460C>T	c.(6460-6462)Cgg>Tgg	p.R2154W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2154	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCGTCCTCCGCGGGGAGGTG	0.697																																																	0			X											27.0	22.0	24.0					X																	3235262		2203	4298	6501	3245262	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6460C>T	X.37:g.3235262G>A	ENSP00000217939:p.Arg2154Trp		3245262	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752682	0.49362	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69040	-0.37	3.48	3.48	0.39840	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.662716	0.11741	U	0.533982	T	0.76371	0.3978	L	0.52759	1.655	0.39658	D	0.970568	D	0.89917	1.0	D	0.63033	0.91	T	0.77536	-0.2551	10	0.87932	D	0	.	14.7878	0.69816	0.0:0.0:1.0:0.0	.	2154	Q9NR99	MXRA5_HUMAN	W	2154	ENSP00000217939:R2154W	ENSP00000217939:R2154W	R	-	1	2	MXRA5	3245262	0.762000	0.28451	0.004000	0.12327	0.002000	0.02628	3.451000	0.52964	1.354000	0.45846	0.597000	0.82753	CGG		0.697	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
RBBP7	5931	hgsc.bcm.edu	37	X	16870190	16870190	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:16870190C>T	ENST00000380087.2	-	9	1379	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RBBP7_ENST00000404022.1_Missense_Mutation_p.R331H|RBBP7_ENST00000380084.4_Missense_Mutation_p.R384H			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	340					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.R340H(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CACATTCAGGCGGCGGTCAGT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)	X											226.0	193.0	204.0					X																	16870190		2203	4300	6503	16780111	SO:0001583	missense	5931			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1019G>A	X.37:g.16870190C>T	ENSP00000369427:p.Arg340His		16780111	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332239	0.95733	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.64085	0.21;0.21;0.21;0.21;-0.08	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.935;0.999;0.935	T	0.80594	-0.1313	9	.	.	.	-10.0579	17.4651	0.87630	0.0:1.0:0.0:0.0	.	331;340;384	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	H	340;384;331;144;279	ENSP00000369427:R340H;ENSP00000369424:R384H;ENSP00000386068:R331H;ENSP00000402796:R144H;ENSP00000392714:R279H	.	R	-	2	0	RBBP7	16780111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.039000	0.70972	2.426000	0.82243	0.538000	0.68166	CGC		0.378	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
PCYT1B	9468	hgsc.bcm.edu	37	X	24625952	24625952	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:24625952C>T	ENST00000379144.2	-	3	374	c.244G>A	c.(244-246)Gat>Aat	p.D82N	PCYT1B_ENST00000356768.4_Missense_Mutation_p.D82N|PCYT1B_ENST00000379145.1_Missense_Mutation_p.D64N	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	82					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	AATATTCCATCGGCGTATACT	0.453																																																	0			X											82.0	75.0	77.0					X																	24625952		2203	4300	6503	24535873	SO:0001583	missense	9468			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.244G>A	X.37:g.24625952C>T	ENSP00000368439:p.Asp82Asn		24535873	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154598	0.94686	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96685	-4.09;-4.09;-4.09	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	L	0.50919	1.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.99;0.99	D	0.98290	1.0513	10	0.87932	D	0	0.3713	17.8268	0.88668	0.0:1.0:0.0:0.0	.	82;64;82	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	N	64;82;82	ENSP00000368440:D64N;ENSP00000368439:D82N;ENSP00000349211:D82N	ENSP00000349211:D82N	D	-	1	0	PCYT1B	24535873	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GAT		0.453	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845	
ASB12	142689	hgsc.bcm.edu	37	X	63444307	63444307	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:63444307G>A	ENST00000396130.2	-	2	837	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	ASB12_ENST00000362002.2_Missense_Mutation_p.R289C|MTMR8_ENST00000453546.1_Missense_Mutation_p.R664C			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	280	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.R664G(1)|p.R289G(1)|p.R280G(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AAGGCTCTGCGGACGACTAAA	0.493																																																	5	Substitution - Missense(3)|Whole gene deletion(2)	lung(3)|ovary(1)|large_intestine(1)	X											106.0	86.0	92.0					X																	63444307		2203	4300	6503	63361032	SO:0001583	missense	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.838C>T	X.37:g.63444307G>A	ENSP00000379435:p.Arg280Cys		63361032	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	G	13.20	2.166569	0.38217	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.64438	-0.1;-0.1;-0.1	3.73	2.87	0.33458	SOCS protein, C-terminal (2);	0.183804	0.45606	D	0.000342	T	0.62146	0.2404	M	0.85630	2.765	0.28306	N	0.922896	P;B	0.48294	0.908;0.019	B;B	0.43413	0.419;0.021	T	0.64127	-0.6480	10	0.87932	D	0	-15.3868	4.0617	0.09841	0.1227:0.0:0.5263:0.3509	.	664;280	B4DQL0;Q8WXK4	.;ASB12_HUMAN	C	289;280;257;664	ENSP00000355195:R289C;ENSP00000379435:R280C;ENSP00000394003:R664C	ENSP00000354626:R257C	R	-	1	0	ASB12;MTMR8	63361032	1.000000	0.71417	0.997000	0.53966	0.283000	0.27025	2.172000	0.42463	0.940000	0.37473	0.529000	0.55759	CGC		0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
MED12	9968	hgsc.bcm.edu	37	X	70338702	70338702	+	Splice_Site	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:70338702A>G	ENST00000374080.3	+	1	130	c.98A>G	c.(97-99)gAg>gGg	p.E33G	MED12_ENST00000333646.6_Splice_Site_p.E33G|MED12_ENST00000374102.1_Splice_Site_p.E33G			Q93074	MED12_HUMAN	mediator complex subunit 12	33					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAACAGAAGGAGGTGCGTTCG	0.672			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			X											13.0	14.0	14.0					X																	70338702		1811	4045	5856	70255427	SO:0001630	splice_region_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.99+1A>G	X.37:g.70338702A>G			70255427	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.998398	0.74818	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.73575	-0.75;-0.75;-0.76;-0.27	4.13	4.13	0.48395	.	0.148358	0.43747	D	0.000535	D	0.83454	0.5258	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.72075	0.976;0.893;0.971	D	0.85501	0.1191	10	0.87932	D	0	-9.9108	13.06	0.59002	1.0:0.0:0.0:0.0	.	33;33;33	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	G	33;33;33;33;1	ENSP00000333125:E33G;ENSP00000363215:E33G;ENSP00000363193:E33G;ENSP00000414203:E1G	ENSP00000333125:E33G	E	+	2	0	MED12	70255427	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	8.036000	0.88901	1.611000	0.50210	0.352000	0.21897	GAG		0.672	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Missense_Mutation
RPS4X	6191	hgsc.bcm.edu	37	X	71496026	71496026	+	Missense_Mutation	SNP	T	T	C	rs113410562		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:71496026T>C	ENST00000316084.6	-	2	166	c.62A>G	c.(61-63)gAt>gGt	p.D21G	RPS4X_ENST00000373626.3_Missense_Mutation_p.D21G|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GGTCAATTTATCCAGCATCCA	0.453																																																	0			X											40.0	38.0	38.0					X																	71496026		2203	4300	6503	71412751	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.62A>G	X.37:g.71496026T>C	ENSP00000362744:p.Asp21Gly		71412751	P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213451	0.58452	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.59	4.59	0.56863	Ribosomal protein S4e, N-terminal, conserved site (1);Ribosomal protein S4e, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.82823	2.61	0.80722	D	1	B;B	0.33073	0.094;0.396	B;B	0.42422	0.085;0.387	T	0.72802	-0.4183	9	0.54805	T	0.06	.	11.1874	0.48664	0.0:0.0:0.0:1.0	.	21;21	B7Z1M6;P62701	.;RS4X_HUMAN	G	21	.	ENSP00000362744:D21G	D	-	2	0	RPS4X	71412751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.704000	0.84595	1.608000	0.50180	0.481000	0.45027	GAT		0.453	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007	
CAPN6	827	hgsc.bcm.edu	37	X	110489922	110489922	+	Silent	SNP	G	G	A	rs147112567	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:110489922G>A	ENST00000324068.1	-	13	1976	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	CAPN6_ENST00000541758.1_Silent_p.S348S	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	603	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CACGGCAGTCGCTGGGGTCAG	0.512																																																	0			X						G		1,3834		0,1,0,1631,571	128.0	96.0	107.0		1809	-2.8	0.9	X	dbSNP_134	107	6,6722		0,5,1,2423,1871	no	coding-synonymous	CAPN6	NM_014289.3		0,6,1,4054,2442	AA,AG,A,GG,G		0.0892,0.0261,0.0663		603/642	110489922	7,10556	2203	4300	6503	110376578	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1809C>T	X.37:g.110489922G>A			110376578	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																				0.512	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
TENM1	10178	hgsc.bcm.edu	37	X	123554280	123554280	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:123554280G>T	ENST00000371130.3	-	24	4905	c.4842C>A	c.(4840-4842)agC>agA	p.S1614R	TENM1_ENST00000422452.2_Missense_Mutation_p.S1621R|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1614					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)										GGACTCCATTGCTGCTTATAG	0.502																																																	0			X											86.0	68.0	74.0					X																	123554280		2203	4300	6503	123381961	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.4842C>A	X.37:g.123554280G>T	ENSP00000360171:p.Ser1614Arg		123381961	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.712475	0.48517	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85171	-1.95;-1.91	5.49	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.045387	0.85682	D	0.000000	T	0.78502	0.4293	L	0.28556	0.865	0.40948	D	0.984524	P;P;P	0.45902	0.842;0.704;0.868	B;B;P	0.45474	0.273;0.236;0.482	T	0.74247	-0.3727	10	0.10111	T	0.7	.	13.4236	0.61011	0.0773:0.0:0.9227:0.0	.	1620;1621;1614	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1614;1621	ENSP00000360171:S1614R;ENSP00000403954:S1621R	ENSP00000360171:S1614R	S	-	3	2	ODZ1	123381961	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.537000	0.60643	1.094000	0.41399	0.597000	0.82753	AGC		0.502	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
DNASE1L1	1774	hgsc.bcm.edu	37	X	153633878	153633878	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chrX:153633878A>G	ENST00000393638.1	-	2	318	c.32T>C	c.(31-33)aTc>aCc	p.I11T	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.I11T	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	11					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATTGGCCAGGATGAGGAAGAG	0.627																																																	0			X											92.0	66.0	75.0					X																	153633878		2201	4299	6500	153287072	SO:0001583	missense	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.32T>C	X.37:g.153633878A>G	ENSP00000377255:p.Ile11Thr		153287072	D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	A	1.999	-0.429972	0.04701	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000447892;ENST00000451865;ENST00000412184;ENST00000424626;ENST00000432135	T;T;T;T;T;T;T;T	0.42900	1.45;1.45;1.45;1.45;1.45;1.45;0.96;1.96	3.65	3.65	0.41850	.	0.252152	0.23343	N	0.049219	T	0.21550	0.0519	N	0.08118	0	0.24173	N	0.995612	B	0.09022	0.002	B	0.01281	0.0	T	0.13019	-1.0525	10	0.51188	T	0.08	0.3941	7.9544	0.30033	1.0:0.0:0.0:0.0	.	11	P49184	DNSL1_HUMAN	T	11	ENSP00000358824:I11T;ENSP00000377255:I11T;ENSP00000014935:I11T;ENSP00000358823:I11T;ENSP00000358822:I11T;ENSP00000309168:I11T;ENSP00000393346:I11T;ENSP00000393000:I11T	ENSP00000014935:I11T	I	-	2	0	DNASE1L1	153287072	0.999000	0.42202	0.196000	0.23383	0.038000	0.13279	5.475000	0.66787	1.465000	0.48006	0.477000	0.44152	ATC		0.627	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2		
STIM2	57620	hgsc.bcm.edu	37	4	27010417	27010417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:27010417C>T	ENST00000467011.1	+	10	1707	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	STIM2_ENST00000467087.1_Nonsense_Mutation_p.R428*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.R515*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.R523*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.R436*|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*		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		0.413	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
KIT	3815	hgsc.bcm.edu	37	4	55593631	55593631	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:55593631A>G	ENST00000288135.5	+	11	1794	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	566					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V560_L576del(4)|p.Y553_T574>S(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.I563_L576del(2)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.N564_Y578del(2)|p.W557_Q575del(2)|p.N564_L576del(2)|p.I563_D572del(1)|p.E562_V569>D(1)|p.E562_P573del(1)|p.N564_T574del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_T574del(1)|p.Q556_D572>PS(1)|p.E561_P577del(1)|p.Q556_D572del(1)|p.N564_P573>T(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.K558_D572del(1)|p.N566S(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.V559_I571del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.N564_P573>TS(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGGAAACAATTATGTT	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	53	Deletion - In frame(38)|Complex - deletion inframe(14)|Substitution - Missense(1)	soft_tissue(52)|testis(1)	4											80.0	81.0	81.0					4																	55593631		2203	4300	6503	55288388	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1697A>G	4.37:g.55593631A>G	ENSP00000288135:p.Asn566Ser		55288388	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731555	0.69189	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.96774	-4.12;-4.12	6.06	4.86	0.63082	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.98137	0.9385	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.997	D;D;D	0.85130	0.928;0.997;0.958	D	0.98455	1.0593	10	0.72032	D	0.01	.	13.5246	0.61586	0.8698:0.1302:0.0:0.0	.	73;562;566	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	S	566;562	ENSP00000288135:N566S;ENSP00000390987:N562S	ENSP00000288135:N566S	N	+	2	0	KIT	55288388	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	9.150000	0.94667	1.088000	0.41272	-0.316000	0.08728	AAC		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55599284	55599284	+	Missense_Mutation	SNP	C	C	T	rs145602440		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:55599284C>T	ENST00000288135.5	+	17	2507	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R804W(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACTCATGGTCGGATCACAAA	0.373		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C|||	1	0.000199681	0.0	0.0	5008	,	,		16804	0.0		0.0	False		,,,				2504	0.001						yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	3	Substitution - Missense(3)	large_intestine(1)|eye(1)|endometrium(1)	4						C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	123.0	123.0	123.0		2410,2398	4.8	1.0	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIT	NM_000222.2,NM_001093772.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	804/977,800/973	55599284	1,13005	2203	4300	6503	55294041	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2410C>T	4.37:g.55599284C>T	ENSP00000288135:p.Arg804Trp		55294041	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159350	0.78226	0.0	1.16E-4	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.89123	-2.47;-2.47	5.62	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000327	D	0.88614	0.6484	N	0.10760	0.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91565	0.5267	10	0.87932	D	0	.	16.4042	0.83652	0.0:0.8682:0.1318:0.0	.	800;804	P10721-2;P10721	.;KIT_HUMAN	W	804;800	ENSP00000288135:R804W;ENSP00000390987:R800W	ENSP00000288135:R804W	R	+	1	2	KIT	55294041	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	3.958000	0.56737	1.336000	0.45506	0.585000	0.79938	CGG		0.373	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
DSPP	1834	hgsc.bcm.edu	37	4	88537150	88537150	+	Silent	SNP	C	C	T	rs529175881	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:88537150C>T	ENST00000282478.7	+	4	3369	c.3336C>T	c.(3334-3336)agC>agT	p.S1112S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.S1112S			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1112	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgatagcagtg	0.542													c|||	951	0.189896	0.1339	0.1888	5008	,	,		14858	0.2054		0.2356	False		,,,				2504	0.2035																0			4											15.0	21.0	19.0					4																	88537150		1245	2342	3587	88756174	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3336C>T	4.37:g.88537150C>T			88756174	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
PDLIM5	10611	hgsc.bcm.edu	37	4	95496959	95496959	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:95496959T>C	ENST00000317968.4	+	5	620	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P	PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S40P|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000514743.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	162					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATCACATGCTTCCCCTTCACC	0.557																																																	0			4											256.0	211.0	226.0					4																	95496959		2203	4300	6503	95715982	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.484T>C	4.37:g.95496959T>C	ENSP00000321746:p.Ser162Pro		95715982	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740315	0.49045	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.61274	0.55;0.12	4.75	4.75	0.60458	.	0.451479	0.23305	N	0.049635	T	0.47967	0.1474	L	0.41236	1.265	0.37801	D	0.927701	P	0.48503	0.911	B	0.39503	0.301	T	0.57189	-0.7854	10	0.44086	T	0.13	.	14.0951	0.65016	0.0:0.0:0.0:1.0	.	162	Q96HC4	PDLI5_HUMAN	P	162;40	ENSP00000321746:S162P;ENSP00000442187:S40P	ENSP00000321746:S162P	S	+	1	0	PDLIM5	95715982	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.569000	0.45973	1.983000	0.57843	0.533000	0.62120	TCC		0.557	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
TRAM1L1	133022	hgsc.bcm.edu	37	4	118005713	118005713	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:118005713C>T	ENST00000310754.4	-	1	1023	c.837G>A	c.(835-837)tcG>tcA	p.S279S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	279	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S279S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCGATTCTGCGATCCAGCCA	0.453																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	4											82.0	74.0	77.0					4																	118005713		2203	4300	6503	118225161	SO:0001819	synonymous_variant	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.837G>A	4.37:g.118005713C>T			118225161	Q8N2L7	Silent	SNP	ENST00000310754.4	37	CCDS3707.1																																																																																				0.453	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
FAT4	79633	hgsc.bcm.edu	37	4	126411849	126411849	+	Silent	SNP	C	C	T	rs369989432		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:126411849C>T	ENST00000394329.3	+	17	13885	c.13872C>T	c.(13870-13872)aaC>aaT	p.N4624N	FAT4_ENST00000335110.5_Silent_p.N2865N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4624					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATTGACAACGCCAGCAGCA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19514	0.0		0.0	False		,,,				2504	0.001																0			4											76.0	76.0	76.0					4																	126411849		2203	4300	6503	126631299	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13872C>T	4.37:g.126411849C>T			126631299	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
USP38	84640	hgsc.bcm.edu	37	4	144135946	144135946	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:144135946C>T	ENST00000307017.4	+	9	3323	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	USP38_ENST00000510377.1_Silent_p.D939D	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	939	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTCCAAAGGACACAGCTTATG	0.363																																																	0			4											69.0	73.0	71.0					4																	144135946		2203	4300	6503	144355396	SO:0001819	synonymous_variant	84640			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2817C>T	4.37:g.144135946C>T			144355396	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	CCDS3758.1																																																																																				0.363	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
FBXW7	55294	hgsc.bcm.edu	37	4	153247169	153247169	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:153247169A>G	ENST00000281708.4	-	10	2862	c.1633T>C	c.(1633-1635)Tat>Cat	p.Y545H	FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427H|FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465H|FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545H|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545H|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	545					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTAATGAATAGACTCTATTA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											152.0	149.0	150.0					4																	153247169		2203	4300	6503	153466619	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1633T>C	4.37:g.153247169A>G	ENSP00000281708:p.Tyr545His		153466619	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493997	0.84962	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	L	0.31371	0.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58047	-0.7705	10	0.87932	D	0	-20.3253	16.2962	0.82776	1.0:0.0:0.0:0.0	.	369;545;427;465	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	545;427;465;369	ENSP00000281708:Y545H;ENSP00000296555:Y427H;ENSP00000263981:Y465H;ENSP00000377528:Y369H	ENSP00000263981:Y465H	Y	-	1	0	FBXW7	153466619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.304000	0.77564	0.528000	0.53228	TAT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
ADAM29	11086	hgsc.bcm.edu	37	4	175898442	175898442	+	Missense_Mutation	SNP	G	G	T	rs267600094		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr4:175898442G>T	ENST00000359240.3	+	5	2436	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	ADAM29_ENST00000445694.1_Missense_Mutation_p.G589V|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.G589V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G589V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	589	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G589E(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACCATTTGGGGATGAAGGGA	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)												2	Substitution - Missense(2)	skin(2)	4											202.0	184.0	190.0					4																	175898442		2203	4300	6503	176135017	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1766G>T	4.37:g.175898442G>T	ENSP00000352177:p.Gly589Val		176135017	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921489	0.52653	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	3.69	3.69	0.42338	ADAM, cysteine-rich (2);	0.000000	0.36665	U	0.002476	T	0.55577	0.1929	M	0.88241	2.94	0.27388	N	0.955239	D	0.89917	1.0	D	0.91635	0.999	T	0.53851	-0.8380	9	.	.	.	.	13.721	0.62728	0.0:0.0:1.0:0.0	.	589	Q9UKF5	ADA29_HUMAN	V	589	ENSP00000352177:G589V;ENSP00000414544:G589V;ENSP00000384229:G589V;ENSP00000423517:G589V	.	G	+	2	0	ADAM29	176135017	1.000000	0.71417	0.078000	0.20375	0.054000	0.15201	6.123000	0.71614	2.351000	0.79841	0.643000	0.83706	GGG		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
DDX1	1653	hgsc.bcm.edu	37	2	15760412	15760412	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:15760412T>C	ENST00000381341.2	+	18	1676	c.1287T>C	c.(1285-1287)gtT>gtC	p.V429V	DDX1_ENST00000233084.3_Silent_p.V429V			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	429	Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CTACATGGGTTGACTTAAAAG	0.428																																																	0			2											128.0	121.0	124.0					2																	15760412		2203	4300	6503	15677863	SO:0001819	synonymous_variant	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1287T>C	2.37:g.15760412T>C			15677863	B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	CCDS1686.1																																																																																				0.428	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
NRXN1	9378	hgsc.bcm.edu	37	2	51254947	51254947	+	Silent	SNP	G	G	A	rs531571569		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:51254947G>A	ENST00000406316.2	-	2	1941	c.465C>T	c.(463-465)gtC>gtT	p.V155V	NRXN1_ENST00000405581.1_Silent_p.V155V|NRXN1_ENST00000405472.3_Silent_p.V155V|NRXN1_ENST00000404971.1_Silent_p.V155V|NRXN1_ENST00000406859.3_Silent_p.V155V|NRXN1_ENST00000402717.3_Silent_p.V155V|NRXN1_ENST00000401669.2_Silent_p.V155V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	155	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGCCCCCCGACGAAAAGGC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13090	0.0		0.0	False		,,,				2504	0.001																0			2											22.0	29.0	27.0					2																	51254947		2117	4229	6346	51108451	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.465C>T	2.37:g.51254947G>A			51108451	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
MCEE	84693	hgsc.bcm.edu	37	2	71351574	71351574	+	Missense_Mutation	SNP	C	C	T	rs377624743		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:71351574C>T	ENST00000244217.5	-	2	157	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	47					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATGGTTGAGTCGACCCAGGTT	0.493																																																	0			2						C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	121.0	118.0		140	1.6	0.6	2		118	0,8600		0,0,4300	no	missense	MCEE	NM_032601.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	47/177	71351574	1,13005	2203	4300	6503	71205082	SO:0001583	missense	84693			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.140G>A	2.37:g.71351574C>T	ENSP00000244217:p.Arg47Gln		71205082	Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488190	0.44249	2.27E-4	0.0	ENSG00000124370	ENST00000413592;ENST00000244217	T;T	0.70631	-0.5;-0.18	5.39	1.62	0.23740	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.172827	0.49916	N	0.000133	T	0.54967	0.1891	L	0.55481	1.735	0.47547	D	0.999459	P	0.43633	0.813	B	0.26693	0.072	T	0.53121	-0.8483	10	0.62326	D	0.03	-11.1457	8.9191	0.35601	0.0:0.6934:0.0:0.3066	.	47	Q96PE7	MCEE_HUMAN	Q	3;47	ENSP00000391140:R3Q;ENSP00000244217:R47Q	ENSP00000244217:R47Q	R	-	2	0	MCEE	71205082	0.996000	0.38824	0.621000	0.29145	0.639000	0.38242	1.502000	0.35704	0.087000	0.17167	0.650000	0.86243	CGA		0.493	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601	
CD8A	925	hgsc.bcm.edu	37	2	87015672	87015672	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:87015672G>A	ENST00000409511.2	-	8	1667	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	CD8A_ENST00000456996.2_Missense_Mutation_p.R176C|CD8A_ENST00000352580.3_Missense_Mutation_p.R176C|CD8A_ENST00000409781.1_Missense_Mutation_p.R176C|CD8A_ENST00000538832.1_Missense_Mutation_p.R254C|CD8A_ENST00000283635.3_Missense_Mutation_p.R213C	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	213					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						TTGCAAACACGTCTTCGGTTC	0.502																																																	0			2											57.0	56.0	56.0					2																	87015672		2203	4300	6503	86869183	SO:0001583	missense	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.637C>T	2.37:g.87015672G>A	ENSP00000386559:p.Arg213Cys		86869183	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953904	0.73902	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	D;D;D;D;D;D	0.89810	-1.5;-1.5;-2.46;-2.46;-2.57;-2.32	4.95	4.04	0.47022	.	0.053858	0.64402	D	0.000001	D	0.94265	0.8158	M	0.87682	2.9	0.49582	D	0.999806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.94438	0.7656	10	0.87932	D	0	-14.2863	10.5401	0.45029	0.0:0.0:0.8072:0.1928	.	254;176;213	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	C	176;176;213;213;198;254;176	ENSP00000398868:R176C;ENSP00000321631:R176C;ENSP00000283635:R213C;ENSP00000386559:R213C;ENSP00000438371:R254C;ENSP00000387314:R176C	ENSP00000283635:R213C	R	-	1	0	CD8A	86869183	0.618000	0.27051	0.617000	0.29091	0.971000	0.66376	2.663000	0.46774	1.383000	0.46405	0.561000	0.74099	CGT		0.502	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	
TEKT4	150483	hgsc.bcm.edu	37	2	95542490	95542490	+	Silent	SNP	C	C	T	rs76856825		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:95542490C>T	ENST00000295201.4	+	6	1421	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	428					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACCCCACCATCCTGCAGCTGG	0.582																																																	0			2											69.0	48.0	55.0					2																	95542490		2203	4300	6503	94906217	SO:0001819	synonymous_variant	150483			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1284C>T	2.37:g.95542490C>T			94906217		Silent	SNP	ENST00000295201.4	37	CCDS2005.1																																																																																				0.582	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705	
FAHD2B	151313	hgsc.bcm.edu	37	2	97751497	97751497	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:97751497T>C	ENST00000414820.1	-	6	894	c.624A>G	c.(622-624)ggA>ggG	p.G208G	FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000440566.2_Silent_p.G208G|FAHD2B_ENST00000272610.3_Silent_p.G208G			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	208							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CGAAGGTTTTTCCCAGCAGCC	0.597																																																	0			2											98.0	86.0	90.0					2																	97751497		2203	4300	6503	97115224	SO:0001819	synonymous_variant	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.624A>G	2.37:g.97751497T>C			97115224	D3DXH7|Q8NDK1	Silent	SNP	ENST00000414820.1	37	CCDS2030.1																																																																																				0.597	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336	
GPR45	11250	hgsc.bcm.edu	37	2	105858361	105858361	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:105858361C>T	ENST00000258456.1	+	1	162	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATACCTGCTGCTGAACACCAG	0.612																																																	0			2											88.0	84.0	85.0					2																	105858361		2203	4300	6503	105224793	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.46C>T	2.37:g.105858361C>T			105224793	Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	CCDS2066.1																																																																																				0.612	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125405504	125405504	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:125405504C>T	ENST00000431078.1	+	13	2407	c.2043C>T	c.(2041-2043)caC>caT	p.H681H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	681	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCCTACCACTGCAGGAGGT	0.607																																																	0			2											22.0	26.0	25.0					2																	125405504		2053	4193	6246	125121974	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2043C>T	2.37:g.125405504C>T			125121974	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.607	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
KIF5C	3800	hgsc.bcm.edu	37	2	149799245	149799245	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:149799245G>A	ENST00000435030.1	+	7	928	c.560G>A	c.(559-561)gGc>gAc	p.G187D	KIF5C_ENST00000414838.2_Missense_Mutation_p.G92D			O60282	KIF5C_HUMAN	kinesin family member 5C	187	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATAGATGAAGGCAAAGCAAAC	0.532																																																	0			2											75.0	73.0	74.0					2																	149799245		1979	4159	6138	149507491	SO:0001583	missense	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.560G>A	2.37:g.149799245G>A	ENSP00000393379:p.Gly187Asp		149507491	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	27.1	4.799309	0.90538	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	D;D	0.83837	-1.77;-1.77	5.48	5.48	0.80851	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92194	0.5762	9	0.87932	D	0	.	19.5489	0.95310	0.0:0.0:1.0:0.0	.	187	O60282	KIF5C_HUMAN	D	187;92;90	ENSP00000393379:G187D;ENSP00000410115:G92D	ENSP00000334176:G90D	G	+	2	0	KIF5C	149507491	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.564000	0.98151	2.850000	0.98022	0.655000	0.94253	GGC		0.532	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
GALNT5	11227	hgsc.bcm.edu	37	2	158156137	158156137	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:158156137T>C	ENST00000259056.4	+	6	2560	c.2075T>C	c.(2074-2076)cTt>cCt	p.L692P	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	692	Catalytic subdomain B.		L -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GACCCTGGCCTTGATGTTTGG	0.373																																																	0			2											90.0	86.0	87.0					2																	158156137		2203	4300	6503	157864383	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2075T>C	2.37:g.158156137T>C	ENSP00000259056:p.Leu692Pro		157864383	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801379	0.90538	.	.	ENSG00000136542	ENST00000259056	T	0.74209	-0.82	5.85	5.85	0.93711	.	0.065901	0.64402	D	0.000008	D	0.88994	0.6589	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91351	0.5104	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.0:0.0:1.0	.	692	Q7Z7M9	GALT5_HUMAN	P	692	ENSP00000259056:L692P	ENSP00000259056:L692P	L	+	2	0	GALNT5	157864383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.237000	0.73441	0.459000	0.35465	CTT		0.373	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
CIR1	9541	hgsc.bcm.edu	37	2	175213553	175213553	+	Missense_Mutation	SNP	T	T	C	rs200766128		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:175213553T>C	ENST00000342016.3	-	10	1117	c.1025A>G	c.(1024-1026)gAg>gGg	p.E342G	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	342	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E342G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCTAGAACTCTCGTGTTTTAA	0.443																																																	1	Substitution - Missense(1)	central_nervous_system(1)	2											159.0	159.0	159.0					2																	175213553		2203	4300	6503	174921799	SO:0001583	missense	7335			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1025A>G	2.37:g.175213553T>C	ENSP00000339723:p.Glu342Gly		174921799	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	9.932	1.215039	0.22373	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	5.01	0.66863	.	0.277370	0.34531	N	0.003885	T	0.53384	0.1793	L	0.56769	1.78	0.34740	D	0.730643	B;B	0.17465	0.022;0.012	B;B	0.17433	0.018;0.005	T	0.61173	-0.7116	9	0.59425	D	0.04	.	10.7341	0.46115	0.0:0.0721:0.0:0.9279	.	342;342	A0PJI7;Q86X95	.;CIR1_HUMAN	G	342	.	ENSP00000339723:E342G	E	-	2	0	CIR1	174921799	1.000000	0.71417	0.425000	0.26659	0.026000	0.11368	2.277000	0.43417	1.152000	0.42452	0.528000	0.53228	GAG		0.443	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882	
TTN	7273	hgsc.bcm.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:179472319C>T	ENST00000591111.1	-	227	48397	c.48173G>A	c.(48172-48174)cGc>cAc	p.R16058H	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17699H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H			Q8WZ42	TITIN_HUMAN	titin	16058	Ig-like 99.		R -> H. {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)	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		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)			AGGTACAGGGCGACCAGTCAC	0.448													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		16817	0.0		0.003	False		,,,				2504	0.001																5	Substitution - Missense(5)	lung(5)	2						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3750		0,2,1874	281.0	266.0	271.0		25901,45392,26276,26477	6.0	1.0	2	dbSNP_130	271	25,8189		0,25,4082	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,27,5956	TT,TC,CC		0.3044,0.0533,0.2256	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8634/26927,15131/33424,8759/27052,8826/27119	179472319	27,11939	1876	4107	5983	179180564	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48173G>A	2.37:g.179472319C>T	ENSP00000465570:p.Arg16058His		179180564	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.60	1.987804	0.35036	5.33E-4	0.003044	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77054	0.4074	L	0.35723	1.085	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.77621	-0.2519	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15131;8634;8826;8759;8634	ENSP00000343764:R15131H;ENSP00000434586:R8634H;ENSP00000340554:R8826H;ENSP00000352154:R8759H	ENSP00000340554:R8826H	R	-	2	0	TTN	179180564	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	4.428000	0.59894	2.840000	0.97914	0.655000	0.94253	CGC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UNC80	285175	hgsc.bcm.edu	37	2	210704104	210704104	+	Missense_Mutation	SNP	G	G	A	rs376043576		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:210704104G>A	ENST00000439458.1	+	19	3280	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H	UNC80_ENST00000272845.6_Missense_Mutation_p.R1062H	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1067					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGACGTGCCCGCTCACGATCC	0.493																																																	0			2						G	HIS/ARG,HIS/ARG	0,1384		0,0,692	85.0	80.0	82.0		3200,3185	5.5	1.0	2		82	1,3181		0,1,1590	no	missense,missense	UNC80	NM_032504.1,NM_182587.3	29,29	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging,probably-damaging	1067/3259,1062/3235	210704104	1,4565	692	1591	2283	210412349	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.3200G>A	2.37:g.210704104G>A	ENSP00000391088:p.Arg1067His		210412349	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101439	0.94245	0.0	3.14E-4	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.37915	1.17;1.17	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53085	-0.8488	10	0.62326	D	0.03	-16.4081	19.4748	0.94983	0.0:0.0:1.0:0.0	.	1067	Q8N2C7	UNC80_HUMAN	H	1067;1062	ENSP00000391088:R1067H;ENSP00000272845:R1062H	ENSP00000272845:R1062H	R	+	2	0	UNC80	210412349	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.869000	0.99810	2.593000	0.87608	0.650000	0.86243	CGC		0.493	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
EPHA4	2043	hgsc.bcm.edu	37	2	222347300	222347300	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:222347300C>T	ENST00000281821.2	-	5	1131	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	EPHA4_ENST00000409938.1_Missense_Mutation_p.V364M|EPHA4_ENST00000392071.4_Missense_Mutation_p.V313M|EPHA4_ENST00000409854.1_Missense_Mutation_p.V364M	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	364	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCATACCACATTATAGGAA	0.512																																																	0			2											164.0	177.0	173.0					2																	222347300		2203	4300	6503	222055544	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1090G>A	2.37:g.222347300C>T	ENSP00000281821:p.Val364Met		222055544	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.332682|4.332682	0.81801|0.81801	.|.	.|.	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	.|T;T;T;T;T	.|0.68765	.|-0.35;-0.35;-0.35;-0.35;-0.35	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.056865	.|0.64402	.|D	.|0.000001	T|T	0.81059|0.81059	0.4744|0.4744	M|M	0.90309|0.90309	3.105|3.105	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.40619	.|0.724	.|P	.|0.50049	.|0.629	D|D	0.83646|0.83646	0.0153|0.0153	5|10	.|0.87932	.|D	.|0	.|.	15.3505|15.3505	0.74380|0.74380	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	.|364	.|P54764	.|EPHA4_HUMAN	I|M	100|364;364;364;313;68	.|ENSP00000281821:V364M;ENSP00000386276:V364M;ENSP00000386829:V364M;ENSP00000375923:V313M;ENSP00000395917:V68M	.|ENSP00000281821:V364M	M|V	-|-	3|1	0|0	EPHA4|EPHA4	222055544|222055544	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.906000|0.906000	0.53458|0.53458	4.748000|4.748000	0.62148|0.62148	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	ATG|GTG		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
HDAC4	9759	hgsc.bcm.edu	37	2	240024515	240024515	+	Silent	SNP	C	C	T	rs149067286	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr2:240024515C>T	ENST00000345617.3	-	16	2966	c.2175G>A	c.(2173-2175)acG>acA	p.T725T	HDAC4_ENST00000543185.1_Silent_p.T309T|HDAC4_ENST00000541256.1_Silent_p.T699T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	725	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGAGGGGGTTCGTGCCATACA	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16836	0.0		0.0	False		,,,				2504	0.0																0			2						C		6,4396	11.4+/-27.6	0,6,2195	120.0	100.0	107.0		2175	-9.5	0.1	2	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	HDAC4	NM_006037.3		0,6,6495	TT,TC,CC		0.0,0.1363,0.0461		725/1085	240024515	6,12996	2201	4300	6501	239689452	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2175G>A	2.37:g.240024515C>T			239689452	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.567	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
KIAA2026	158358	hgsc.bcm.edu	37	9	5988413	5988413	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:5988413T>C	ENST00000399933.3	-	2	725	c.726A>G	c.(724-726)ggA>ggG	p.G242G	KIAA2026_ENST00000381461.2_Silent_p.G242G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	242										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTCAAAAACTCCACTTGTCA	0.398																																																	0			9											111.0	109.0	109.0					9																	5988413		1889	4102	5991	5978413	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.726A>G	9.37:g.5988413T>C			5978413	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																					0.398	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
PTPRD	5789	hgsc.bcm.edu	37	9	8404560	8404560	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:8404560C>T	ENST00000381196.4	-	33	4730	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q	PTPRD_ENST00000397611.3_Missense_Mutation_p.R986Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R990Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1396Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R989Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1396Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1374Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R986Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R989Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1383Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R989Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1396	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGAGAACCCGGGAATGATC	0.388										TSP Lung(15;0.13)																																							0			9											159.0	131.0	140.0					9																	8404560		2203	4300	6503	8394560	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4187G>A	9.37:g.8404560C>T	ENSP00000370593:p.Arg1396Gln		8394560	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798171	0.96952	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.92	5.92	0.95590	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.973;0.985;0.985;0.985;0.995;0.975;0.999;0.999;0.999	D	0.89990	0.4107	9	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	989;980;989;990;986;986;1383;1396;1396	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1396;1396;1383;1374;990;989;986;986;867;1396;989;989	ENSP00000370593:R1396Q;ENSP00000348812:R1396Q;ENSP00000353187:R1383Q;ENSP00000351293:R1374Q;ENSP00000347373:R990Q;ENSP00000380741:R989Q;ENSP00000380735:R986Q;ENSP00000440515:R986Q;ENSP00000438164:R1396Q;ENSP00000417093:R989Q;ENSP00000380731:R989Q	.	R	-	2	0	PTPRD	8394560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.794000	0.96219	0.650000	0.86243	CGG		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
LURAP1L	286343	hgsc.bcm.edu	37	9	12821518	12821518	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:12821518T>C	ENST00000319264.3	+	2	1141	c.446T>C	c.(445-447)cTg>cCg	p.L149P		NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	152																	AGTGGCAGCCTGTGCAGTTTG	0.522																																																	0			9											85.0	83.0	83.0					9																	12821518		2203	4300	6503	12811518	SO:0001583	missense	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.446T>C	9.37:g.12821518T>C	ENSP00000321026:p.Leu149Pro		12811518	Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247237	0.59103	.	.	ENSG00000153714	ENST00000319264	T	0.50813	0.73	5.59	5.59	0.84812	.	0.197315	0.32134	N	0.006530	T	0.62575	0.2439	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.64905	-0.6297	10	0.66056	D	0.02	.	15.7718	0.78176	0.0:0.0:0.0:1.0	.	152	Q8IV03	CI150_HUMAN	P	149	ENSP00000321026:L149P	ENSP00000321026:L149P	L	+	2	0	C9orf150	12811518	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.986000	0.49370	2.130000	0.65690	0.460000	0.39030	CTG		0.522	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
CER1	9350	hgsc.bcm.edu	37	9	14722340	14722340	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:14722340A>G	ENST00000380911.3	-	1	375	c.331T>C	c.(331-333)Tcc>Ccc	p.S111P		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	111					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGGATGAGGGACTGGGTCCCA	0.502																																																	0			9											66.0	69.0	68.0					9																	14722340		2203	4300	6503	14712340	SO:0001583	missense	23739			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.331T>C	9.37:g.14722340A>G	ENSP00000370297:p.Ser111Pro		14712340	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	A	0.097	-1.158441	0.01686	.	.	ENSG00000147869	ENST00000380911	T	0.16597	2.33	4.29	1.35	0.21983	.	0.551296	0.17694	N	0.165150	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33904	-0.9850	10	0.30078	T	0.28	-0.0883	7.2036	0.25895	0.3521:0.368:0.2799:0.0	.	111	O95813	CER1_HUMAN	P	111	ENSP00000370297:S111P	ENSP00000370297:S111P	S	-	1	0	CER1	14712340	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.722000	0.25925	0.309000	0.22966	-1.642000	0.00770	TCC		0.502	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454	
FREM1	158326	hgsc.bcm.edu	37	9	14805124	14805124	+	Missense_Mutation	SNP	C	C	T	rs369918312		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:14805124C>T	ENST00000380880.3	-	19	4084	c.3301G>A	c.(3301-3303)Gct>Act	p.A1101T	FREM1_ENST00000422223.2_Missense_Mutation_p.A1101T|FREM1_ENST00000380881.4_Missense_Mutation_p.A1102T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1101					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGAAAAGCGTTCATGTCT	0.413																																																	0			9						C	THR/ALA	0,3842		0,0,1921	146.0	138.0	140.0		3301	3.5	1.0	9		140	1,8275		0,1,4137	no	missense	FREM1	NM_144966.5	58	0,1,6058	TT,TC,CC		0.0121,0.0,0.0083	benign	1101/2180	14805124	1,12117	1921	4138	6059	14795124	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3301G>A	9.37:g.14805124C>T	ENSP00000370262:p.Ala1101Thr		14795124	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424773	0.43020	0.0	1.21E-4	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.30182	1.54;1.54;1.54	5.42	3.55	0.40652	.	0.227951	0.44285	D	0.000469	T	0.18257	0.0438	L	0.45352	1.415	0.38638	D	0.95153	P	0.43607	0.812	B	0.30401	0.115	T	0.09885	-1.0654	10	0.22109	T	0.4	-7.9858	8.1751	0.31276	0.28:0.6486:0.0:0.0714	.	1101	Q5H8C1	FREM1_HUMAN	T	1102;1101;1101	ENSP00000370263:A1102T;ENSP00000412940:A1101T;ENSP00000370262:A1101T	ENSP00000370257:A1104T	A	-	1	0	FREM1	14795124	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.210000	0.32370	0.639000	0.30564	0.650000	0.86243	GCT		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FOCAD	54914	hgsc.bcm.edu	37	9	20953057	20953057	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:20953057A>G	ENST00000380249.1	+	37	4489	c.4125A>G	c.(4123-4125)ggA>ggG	p.G1375G	FOCAD_ENST00000605086.1_Silent_p.G811G|FOCAD_ENST00000338382.6_Silent_p.G1375G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1375						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TTACAGGAGGAAAAAAAGGCA	0.368																																																	0			9											113.0	111.0	112.0					9																	20953057		2203	4300	6503	20943057	SO:0001819	synonymous_variant	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4125A>G	9.37:g.20953057A>G			20943057	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
UNC13B	10497	hgsc.bcm.edu	37	9	35396474	35396474	+	Splice_Site	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:35396474G>A	ENST00000378495.3	+	26	3285	c.3063G>A	c.(3061-3063)gaG>gaA	p.E1021E	UNC13B_ENST00000378496.4_Splice_Site_p.E1021E|UNC13B_ENST00000396787.1_Splice_Site_p.E1033E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1021	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TACCACTAGAGCATGAGAAAG	0.537																																																	0			9											93.0	77.0	83.0					9																	35396474		2203	4300	6503	35386474	SO:0001630	splice_region_variant	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3062-1G>A	9.37:g.35396474G>A			35386474	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Silent
TRPM3	80036	hgsc.bcm.edu	37	9	73213399	73213399	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:73213399C>T	ENST00000377111.2	-	20	3191	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	TRPM3_ENST00000377105.1_Missense_Mutation_p.R842H|TRPM3_ENST00000377110.3_Missense_Mutation_p.R983H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R832H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R845H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R842H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R845H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R987H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R830H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1010H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R855H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R855H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1008					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTAGGAGACGGATATACCA	0.448																																																	0			9											132.0	129.0	130.0					9																	73213399		2203	4300	6503	72403219	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2948G>A	9.37:g.73213399C>T	ENSP00000366315:p.Arg983His		72403219	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.497307	0.85069	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	D;D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.87	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.85859	2.78	0.49798	D	0.999822	D;D;D;D;P;B;D;P	0.89917	1.0;0.993;1.0;0.998;0.75;0.152;0.999;0.862	D;P;D;D;B;B;P;P	0.91635	0.997;0.809;0.999;0.949;0.386;0.056;0.837;0.581	D	0.98216	1.0475	10	0.66056	D	0.02	-7.615	13.3904	0.60821	0.0:0.923:0.0:0.077	.	983;983;973;987;845;842;955;830	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	983;983;855;845;842;987;842;830;855;845;1010	ENSP00000366315:R983H;ENSP00000366314:R983H;ENSP00000366310:R855H;ENSP00000354066:R845H;ENSP00000366309:R842H;ENSP00000350140:R987H;ENSP00000386127:R842H;ENSP00000379581:R830H;ENSP00000379587:R855H;ENSP00000350791:R845H;ENSP00000389542:R1010H	ENSP00000350140:R987H	R	-	2	0	TRPM3	72403219	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.810000	0.86072	1.178000	0.42870	0.573000	0.79308	CGT		0.448	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
NTRK2	4915	hgsc.bcm.edu	37	9	87635212	87635212	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:87635212T>C	ENST00000323115.4	+	16	2569	c.2216T>C	c.(2215-2217)cTg>cCg	p.L739P	NTRK2_ENST00000376214.1_Missense_Mutation_p.L755P|NTRK2_ENST00000376213.1_Missense_Mutation_p.L739P|NTRK2_ENST00000277120.3_Missense_Mutation_p.L755P			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GTCTGGAGCCTGGGGGTCGTG	0.562										TSP Lung(25;0.17)																																							0			9											137.0	127.0	130.0					9																	87635212		2203	4300	6503	86825032	SO:0001583	missense	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2216T>C	9.37:g.87635212T>C	ENSP00000314586:p.Leu739Pro		86825032	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090520	0.94149	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93373	0.6737	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	739;755	Q16620;Q16620-4	NTRK2_HUMAN;.	P	755;739;755;739	ENSP00000365387:L755P;ENSP00000365386:L739P;ENSP00000277120:L755P;ENSP00000314586:L739P	ENSP00000277120:L755P	L	+	2	0	NTRK2	86825032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.033000	0.88852	2.371000	0.80710	0.533000	0.62120	CTG		0.562	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
ROR2	4920	hgsc.bcm.edu	37	9	94495608	94495608	+	Missense_Mutation	SNP	T	T	C	rs10820900	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:94495608T>C	ENST00000375708.3	-	6	931	c.733A>G	c.(733-735)Aca>Gca	p.T245A	ROR2_ENST00000375715.1_Missense_Mutation_p.T105A|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	245	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		T -> A (in dbSNP:rs10820900). {ECO:0000269|PubMed:10700182, ECO:0000269|PubMed:10986040, ECO:0000269|PubMed:1334494, ECO:0000269|PubMed:17344846, ECO:0000269|Ref.3}.		cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCTTGGGTGTCCGGGAGCGC	0.647													C|||	3230	0.644968	0.7587	0.5159	5008	,	,		11431	0.5268		0.659	False		,,,				2504	0.6902																0			9						C	ALA/THR	3275,1131	391.0+/-327.9	1215,845,143	41.0	39.0	39.0		733	3.5	1.0	9	dbSNP_120	39	5554,3046	459.5+/-364.9	1804,1946,550	yes	missense	ROR2	NM_004560.3	58	3019,2791,693	CC,CT,TT		35.4186,25.6695,32.1159	benign	245/944	94495608	8829,4177	2203	4300	6503	93535429	SO:0001583	missense	6095			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.733A>G	9.37:g.94495608T>C	ENSP00000364860:p.Thr245Ala		93535429	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	1366	0.6254578754578755	384	0.7804878048780488	192	0.5303867403314917	291	0.5087412587412588	499	0.658311345646438	C	5.817	0.334936	0.11013	0.743305	0.645814	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.74947	-0.89;-0.89	4.44	3.45	0.39498	Frizzled domain (2);Kringle (1);	0.182670	0.26334	N	0.024971	T	0.00012	0.0000	N	0.16656	0.425	0.52501	P	4.300000000001525E-5	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.45542	-0.9254	9	0.02654	T	1	.	4.1846	0.10392	0.0:0.5303:0.0:0.4697	rs10820900;rs10820900	245;105	Q01974;B1APY4	ROR2_HUMAN;.	A	105;245	ENSP00000364867:T105A;ENSP00000364860:T245A	ENSP00000364860:T245A	T	-	1	0	ROR2	93535429	0.000000	0.05858	0.998000	0.56505	0.714000	0.41099	0.861000	0.27885	1.109000	0.41680	-0.215000	0.12644	ACA		0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
FAM120A	23196	hgsc.bcm.edu	37	9	96318751	96318751	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:96318751G>A	ENST00000277165.6	+	13	2556	c.2362G>A	c.(2362-2364)Gga>Aga	p.G788R	FAM120A_ENST00000333936.5_Missense_Mutation_p.G816R|FAM120A_ENST00000340893.4_Missense_Mutation_p.G788R	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	788						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGATGCATGCGGACAGCCAAT	0.468																																																	0			9											187.0	185.0	186.0					9																	96318751		2203	4300	6503	95358572	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2362G>A	9.37:g.96318751G>A	ENSP00000277165:p.Gly788Arg		95358572	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371218	0.95923	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75900	-0.3154	10	0.87932	D	0	-15.5675	20.3214	0.98679	0.0:0.0:1.0:0.0	.	788;816;788	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	R	788;816;788;210	ENSP00000277165:G788R;ENSP00000334918:G816R;ENSP00000344698:G788R;ENSP00000412440:G210R	ENSP00000277165:G788R	G	+	1	0	FAM120A	95358572	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	9.772000	0.98984	2.804000	0.96469	0.655000	0.94253	GGA		0.468	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
PTCH1	5727	hgsc.bcm.edu	37	9	98220497	98220497	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:98220497T>C	ENST00000331920.6	-	18	3265	c.2966A>G	c.(2965-2967)gAg>gGg	p.E989G	PTCH1_ENST00000418258.1_Missense_Mutation_p.E838G|PTCH1_ENST00000437951.1_Missense_Mutation_p.E923G|PTCH1_ENST00000421141.1_Missense_Mutation_p.E838G|PTCH1_ENST00000430669.2_Missense_Mutation_p.E923G|PTCH1_ENST00000375274.2_Missense_Mutation_p.E988G|PTCH1_ENST00000429896.2_Missense_Mutation_p.E838G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	989					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.I963fs*2(1)		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)				TTCAATTGCCTCCACAAAGTC	0.557																																																	1	Deletion - Frameshift(1)	central_nervous_system(1)	9											58.0	50.0	53.0					9																	98220497		2203	4300	6503	97260318	SO:0001583	missense	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.2966A>G	9.37:g.98220497T>C	ENSP00000332353:p.Glu989Gly		97260318	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429110	0.83667	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.74	5.74	0.90152	.	0.044263	0.85682	D	0.000000	D	0.88407	0.6428	L	0.56199	1.76	0.80722	D	1	P;D;P	0.54601	0.941;0.967;0.943	P;P;P	0.55222	0.66;0.692;0.771	D	0.88829	0.3304	10	0.54805	T	0.06	-22.187	16.3305	0.83010	0.0:0.0:0.0:1.0	.	923;988;989	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	989;923;838;838;425;923;838;988	ENSP00000332353:E989G;ENSP00000389744:E923G;ENSP00000399981:E838G;ENSP00000396135:E838G;ENSP00000410287:E923G;ENSP00000414823:E838G;ENSP00000364423:E988G	ENSP00000332353:E989G	E	-	2	0	PTCH1	97260318	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	7.655000	0.83696	2.317000	0.78254	0.459000	0.35465	GAG		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
CCDC180	100499483	hgsc.bcm.edu	37	9	100090391	100090391	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:100090391T>C	ENST00000357054.1	+	30	3235	c.2300T>C	c.(2299-2301)cTc>cCc	p.L767P	CCDC180_ENST00000411667.2_Missense_Mutation_p.L625P|CCDC180_ENST00000375202.2_Missense_Mutation_p.L628P|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.L628P			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	767						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGCTCTGCCCTCAGCCAATAC	0.483																																																	0			9											168.0	148.0	155.0					9																	100090391		2203	4300	6503	99130212	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2300T>C	9.37:g.100090391T>C	ENSP00000349562:p.Leu767Pro		99130212	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	T	13.00	2.105240	0.37145	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000033	T	0.57577	0.2063	M	0.74881	2.28	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;0.999	T	0.56805	-0.7918	10	0.36615	T	0.2	-17.1407	11.9967	0.53208	0.0:0.0:0.0:1.0	.	625;767;628;767	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	P	767;628;625;651;628	ENSP00000349562:L767P;ENSP00000364348:L628P;ENSP00000414000:L625P;ENSP00000434727:L628P	ENSP00000349562:L767P	L	+	2	0	C9orf174	99130212	0.997000	0.39634	1.000000	0.80357	0.263000	0.26337	3.928000	0.56506	2.269000	0.75478	0.533000	0.62120	CTC		0.483	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
RGS3	5998	hgsc.bcm.edu	37	9	116224396	116224396	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:116224396T>C	ENST00000374140.2	+	4	539	c.330T>C	c.(328-330)ccT>ccC	p.P110P	RGS3_ENST00000350696.5_Silent_p.P110P|RGS3_ENST00000317613.6_5'Flank	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	110					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTAAGCCCTGATATCGCTC	0.552																																																	0			9											115.0	116.0	116.0					9																	116224396		2108	4227	6335	115264217	SO:0001819	synonymous_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.330T>C	9.37:g.116224396T>C			115264217	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.552	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
AK1	203	hgsc.bcm.edu	37	9	130630695	130630695	+	Missense_Mutation	SNP	C	C	T	rs387906582		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:130630695C>T	ENST00000373176.1	-	6	573	c.421G>A	c.(421-423)Gac>Aac	p.D141N	AK1_ENST00000223836.10_Missense_Mutation_p.D157N|RP11-203J24.9_ENST00000476274.2_RNA|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.D141N	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TCCTCATTGTCGTCCACACGC	0.567																																																	0			9											92.0	68.0	76.0					9																	130630695		2203	4300	6503	129670516	SO:0001583	missense	203			J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.421G>A	9.37:g.130630695C>T	ENSP00000362271:p.Asp141Asn		129670516		Missense_Mutation	SNP	ENST00000373176.1	37	CCDS6881.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587369	0.86851	.	.	ENSG00000106992	ENST00000373176;ENST00000373156;ENST00000223836	D;D;D	0.87179	-2.22;-2.22;-2.22	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99218	1.0878	10	0.87932	D	0	-14.3136	16.8189	0.85740	0.0:1.0:0.0:0.0	.	141	P00568	KAD1_HUMAN	N	141;141;157	ENSP00000362271:D141N;ENSP00000362249:D141N;ENSP00000223836:D157N	ENSP00000223836:D157N	D	-	1	0	AK1	129670516	1.000000	0.71417	0.993000	0.49108	0.493000	0.33554	5.693000	0.68264	2.301000	0.77427	0.561000	0.74099	GAC		0.567	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1		
OLFM1	10439	hgsc.bcm.edu	37	9	138011365	138011365	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:138011365G>A	ENST00000371793.3	+	6	1050	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	OLFM1_ENST00000371796.3_Missense_Mutation_p.G240S|OLFM1_ENST00000252854.4_Missense_Mutation_p.G249S	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	267	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GTACATGGACGGCTATCACAA	0.547																																																	0			9											113.0	100.0	104.0					9																	138011365		2203	4300	6503	137151186	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.799G>A	9.37:g.138011365G>A	ENSP00000360858:p.Gly267Ser		137151186	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	G	11.91	1.778618	0.31502	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.07	5.07	0.68467	Olfactomedin-like (3);	0.048847	0.85682	D	0.000000	T	0.79868	0.4520	L	0.38531	1.155	0.58432	D	0.999999	B;B	0.34290	0.447;0.115	B;B	0.27887	0.082;0.084	T	0.75671	-0.3237	10	0.15499	T	0.54	.	9.7722	0.40595	0.1293:0.0:0.8707:0.0	.	267;249	Q99784;Q6IMJ8	NOE1_HUMAN;.	S	249;240;267;164	ENSP00000252854:G249S;ENSP00000360861:G240S;ENSP00000360858:G267S;ENSP00000443806:G164S	ENSP00000252854:G249S	G	+	1	0	OLFM1	137151186	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	6.271000	0.72569	2.357000	0.79964	0.561000	0.74099	GGC		0.547	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
NOXA1	10811	hgsc.bcm.edu	37	9	140322556	140322556	+	Missense_Mutation	SNP	C	C	T	rs145080773		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr9:140322556C>T	ENST00000341349.2	+	3	512	c.332C>T	c.(331-333)aCg>aTg	p.T111M	NOXA1_ENST00000392815.2_Missense_Mutation_p.T111M	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	111	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		ATCGACTACACGCAGCTGGGC	0.687																																																	0			9							MET/THR	1,4339		0,1,2169	20.0	16.0	18.0		332	2.1	0.8	9	dbSNP_134	18	2,8554		0,2,4276	no	missense	NOXA1	NM_006647.1	81	0,3,6445	TT,TC,CC		0.0234,0.023,0.0233	probably-damaging	111/484	140322556	3,12893	2170	4278	6448	139442377	SO:0001583	missense	10811			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.332C>T	9.37:g.140322556C>T	ENSP00000342848:p.Thr111Met		139442377	O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	CCDS7042.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.028763	0.54790	2.3E-4	2.34E-4	ENSG00000188747	ENST00000341349;ENST00000392815	T;T	0.66280	-0.2;1.17	4.32	2.1	0.27182	Tetratricopeptide-like helical (1);	0.263356	0.35495	N	0.003167	T	0.73048	0.3537	M	0.78916	2.43	0.24340	N	0.994965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.967;0.95;0.977	T	0.61242	-0.7102	10	0.62326	D	0.03	.	5.2715	0.15627	0.3077:0.5067:0.1856:0.0	.	111;111;111	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	M	111	ENSP00000342848:T111M;ENSP00000376562:T111M	ENSP00000342848:T111M	T	+	2	0	NOXA1	139442377	0.004000	0.15560	0.825000	0.32803	0.881000	0.50899	0.119000	0.15626	0.755000	0.32990	0.556000	0.70494	ACG		0.687	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1		
PARP4	143	hgsc.bcm.edu	37	13	25066720	25066720	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:25066720C>T	ENST00000381989.3	-	9	997	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	298	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAATCCCCTCTGCCTTGCTC	0.358																																																	0			13											195.0	186.0	189.0					13																	25066720		2203	4300	6503	23964720	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.892G>A	13.37:g.25066720C>T	ENSP00000371419:p.Glu298Lys		23964720	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783940	0.70222	.	.	ENSG00000102699	ENST00000381989	T	0.46451	0.87	4.59	4.59	0.56863	Poly(ADP-ribose) polymerase, regulatory domain (3);	0.139055	0.46442	D	0.000295	T	0.63988	0.2558	M	0.76328	2.33	0.44048	D	0.996782	D	0.76494	0.999	D	0.78314	0.991	T	0.68546	-0.5380	10	0.72032	D	0.01	-21.6396	14.9206	0.70835	0.0:1.0:0.0:0.0	.	298	Q9UKK3	PARP4_HUMAN	K	298	ENSP00000371419:E298K	ENSP00000371419:E298K	E	-	1	0	PARP4	23964720	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	4.294000	0.59043	2.362000	0.80069	0.643000	0.83706	GAG		0.358	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
SUCLA2	8803	hgsc.bcm.edu	37	13	48542867	48542867	+	Splice_Site	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:48542867A>G	ENST00000378654.3	-	6	721	c.665T>C	c.(664-666)cTt>cCt	p.L222P	SUCLA2_ENST00000534875.1_Splice_Site_p.L164P|SUCLA2_ENST00000544100.1_Splice_Site_p.L88P|SUCLA2_ENST00000543413.1_Splice_Site_p.L164P|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	222	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTTCTGTGCAAGCTGAAATCA	0.323																																																	0			13											46.0	42.0	43.0					13																	48542867		2202	4300	6502	47440868	SO:0001630	splice_region_variant	8803			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.664-1T>C	13.37:g.48542867A>G			47440868	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	a	22.5	4.303976	0.81136	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.112739	0.64402	D	0.000010	D	0.83464	0.5260	M	0.88906	2.99	0.80722	D	1	D	0.63880	0.993	P	0.62649	0.905	D	0.86649	0.1897	10	0.87932	D	0	-10.3648	15.825	0.78698	1.0:0.0:0.0:0.0	.	222	Q9P2R7	SUCB1_HUMAN	P	222;200;152;74;88;164;164;50;152;74	ENSP00000367923:L222P;ENSP00000443412:L88P;ENSP00000438182:L164P;ENSP00000441056:L164P;ENSP00000392771:L152P;ENSP00000415091:L74P	ENSP00000367898:L74P	L	-	2	0	SUCLA2	47440868	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.515000	0.90548	2.333000	0.79357	0.533000	0.62120	CTT		0.323	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		Missense_Mutation
RB1	5925	hgsc.bcm.edu	37	13	48881536	48881536	+	Silent	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:48881536A>G	ENST00000267163.4	+	2	396	c.258A>G	c.(256-258)ggA>ggG	p.G86G		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	86					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|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 during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGTGGATGGAGTATTGGTAA	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	18	Whole gene deletion(15)|Unknown(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	13											122.0	123.0	123.0					13																	48881536		2203	4299	6502	47779537	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.258A>G	13.37:g.48881536A>G			47779537	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
TBC1D4	9882	hgsc.bcm.edu	37	13	76055518	76055518	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:76055518A>G	ENST00000377636.3	-	1	732	c.386T>C	c.(385-387)tTc>tCc	p.F129S	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.F129S|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F129S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	129	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTGTGGATGAAGCGCGAGAT	0.657																																																	0			13											94.0	111.0	105.0					13																	76055518		2160	4271	6431	74953519	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.386T>C	13.37:g.76055518A>G	ENSP00000366863:p.Phe129Ser		74953519	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769319	0.90020	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19105	2.17;2.17;2.17	4.16	4.16	0.48862	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000061	T	0.39708	0.1088	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.964;0.997;0.999	T	0.28235	-1.0050	10	0.87932	D	0	-12.4786	13.3507	0.60601	1.0:0.0:0.0:0.0	.	129;129;129	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	S	129	ENSP00000366863:F129S;ENSP00000395986:F129S;ENSP00000366852:F129S	ENSP00000366852:F129S	F	-	2	0	TBC1D4	74953519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.626000	0.90969	1.732000	0.51606	0.459000	0.35465	TTC		0.657	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
DAOA	267012	hgsc.bcm.edu	37	13	106142254	106142254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:106142254G>T	ENST00000375936.3	+	4	332	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	DAOA_ENST00000329625.5_Nonsense_Mutation_p.E25*|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	96					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ttacaggcttgaagaagtaag	0.483																																																	0			13											71.0	77.0	75.0					13																	106142254		2174	4281	6455	104940255	SO:0001587	stop_gained	267012			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.286G>T	13.37:g.106142254G>T	ENSP00000365103:p.Glu96*		104940255	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Nonsense_Mutation	SNP	ENST00000375936.3	37	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.432547	0.83776	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	.	.	.	2.34	-1.65	0.08291	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	0.3512	0.00349	0.2714:0.2011:0.3229:0.2047	.	.	.	.	X	96;25	.	ENSP00000329951:E25X	E	+	1	0	DAOA	104940255	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.156000	0.10100	-0.534000	0.06315	-0.216000	0.12614	GAA		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
ANKRD26	22852	hgsc.bcm.edu	37	10	27311604	27311604	+	Silent	SNP	G	G	A	rs535737907		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:27311604G>A	ENST00000376087.4	-	29	4263	c.4098C>T	c.(4096-4098)ctC>ctT	p.L1366L	ANKRD26_ENST00000376070.3_Silent_p.L923L|ANKRD26_ENST00000436985.2_Silent_p.L1382L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1365					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCATTTTTAAGAGGTTCTTAA	0.254													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14422	0.0		0.0	False		,,,				2504	0.0																0			10											48.0	48.0	48.0					10																	27311604		1778	4026	5804	27351610	SO:0001819	synonymous_variant	22852			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4098C>T	10.37:g.27311604G>A			27351610	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	CCDS41499.1																																																																																				0.254	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ARMC4	55130	hgsc.bcm.edu	37	10	28229554	28229554	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:28229554T>C	ENST00000305242.5	-	13	2016	c.1924A>G	c.(1924-1926)Aag>Gag	p.K642E	ARMC4_ENST00000537576.1_Missense_Mutation_p.K334E|ARMC4_ENST00000545014.1_Missense_Mutation_p.K167E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	642					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGAGAAGTCTTCAGCAGCCGA	0.522																																																	0			10											109.0	94.0	99.0					10																	28229554		2203	4300	6503	28269560	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1924A>G	10.37:g.28229554T>C	ENSP00000306410:p.Lys642Glu		28269560	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811284	0.50527	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.66280	-0.2;-0.2;-0.2	5.39	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (2);	0.042785	0.85682	D	0.000000	T	0.66674	0.2813	L	0.52364	1.645	0.80722	D	1	P;P	0.45078	0.536;0.85	B;P	0.53722	0.398;0.733	T	0.64952	-0.6286	10	0.42905	T	0.14	-30.7743	11.5334	0.50624	0.0:0.0709:0.0:0.9291	.	167;642	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	E	334;642;167	ENSP00000443208:K334E;ENSP00000306410:K642E;ENSP00000441076:K167E	ENSP00000306410:K642E	K	-	1	0	ARMC4	28269560	1.000000	0.71417	0.998000	0.56505	0.108000	0.19459	7.702000	0.84576	0.968000	0.38212	0.533000	0.62120	AAG		0.522	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
PTEN	5728	hgsc.bcm.edu	37	10	89690820	89690820	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:89690820A>G	ENST00000371953.3	+	4	1584	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	76	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.Y76fs*1(12)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y76del(2)|p.Y27fs*1(2)|p.H75_T78del(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)		GAAAGACATTATGACACCGCC	0.303		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"""	72	Whole gene deletion(37)|Deletion - Frameshift(26)|Unknown(6)|Deletion - In frame(3)	central_nervous_system(21)|prostate(17)|endometrium(7)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|stomach(1)|soft_tissue(1)|urinary_tract(1)	10											81.0	75.0	77.0					10																	89690820		2202	4295	6497	89680800	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.227A>G	10.37:g.89690820A>G	ENSP00000361021:p.Tyr76Cys		89680800	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562909	0.86335	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.62	5.62	0.85841	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97896	1.0300	9	.	.	.	-12.1246	16.1135	0.81278	1.0:0.0:0.0:0.0	.	76	P60484	PTEN_HUMAN	C	76	ENSP00000361021:Y76C	.	Y	+	2	0	PTEN	89680800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.827000	0.92041	2.267000	0.75376	0.383000	0.25322	TAT		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89711972	89711972	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:89711972A>G	ENST00000371953.3	+	6	1947	c.590A>G	c.(589-591)aAg>aGg	p.K197R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	197	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.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.K197fs*2(1)|p.G165_*404del(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)		TTGTTTCACAAGATGATGTTT	0.388		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(11)|Unknown(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10											154.0	152.0	153.0					10																	89711972		2203	4300	6503	89701952	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.590A>G	10.37:g.89711972A>G	ENSP00000361021:p.Lys197Arg		89701952	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588954	0.66105	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	L	0.43152	1.355	0.80722	D	1	D	0.57257	0.979	P	0.57846	0.828	D	0.86619	0.1878	9	.	.	.	-2.989	16.2416	0.82411	1.0:0.0:0.0:0.0	.	197	P60484	PTEN_HUMAN	R	197	ENSP00000361021:K197R	.	K	+	2	0	PTEN	89701952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	2.241000	0.73720	0.477000	0.44152	AAG		0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PANK1	53354	hgsc.bcm.edu	37	10	91404388	91404388	+	Silent	SNP	C	C	T	rs201927435	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:91404388C>T	ENST00000307534.4	-	1	827	c.672G>A	c.(670-672)agG>agA	p.R224R	PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000342512.3_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000488482.1_5'Flank|RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000322191.6_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	224					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						AGTCCATCCTCCTCCGCAGCC	0.731													C|||	12	0.00239617	0.0	0.0043	5008	,	,		12183	0.0		0.0089	False		,,,				2504	0.0																0			10						C		10,4124		0,10,2057	7.0	8.0	8.0		672	4.9	1.0	10		8	115,8265		0,115,4075	yes	coding-synonymous	PANK1	NM_148977.2		0,125,6132	TT,TC,CC		1.3723,0.2419,0.9989		224/599	91404388	125,12389	2067	4190	6257	91394368	SO:0001819	synonymous_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.672G>A	10.37:g.91404388C>T			91394368	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																				0.731	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
UBTD1	80019	hgsc.bcm.edu	37	10	99329964	99329964	+	Missense_Mutation	SNP	C	C	T	rs146047099		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:99329964C>T	ENST00000370664.3	+	3	704	c.368C>T	c.(367-369)cCg>cTg	p.P123L	ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	123										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CTGTCACCGCCGGTGAACCTG	0.652																																					Pancreas(100;169 2668 32720)												0			10						C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	64.0	72.0	69.0		368	5.3	0.4	10	dbSNP_134	69	0,8600		0,0,4300	no	missense	UBTD1	NM_024954.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	123/228	99329964	1,13005	2203	4300	6503	99319954	SO:0001583	missense	80019			BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.368C>T	10.37:g.99329964C>T	ENSP00000359698:p.Pro123Leu		99319954	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439660	0.63067	2.27E-4	0.0	ENSG00000165886	ENST00000370664	D	0.86769	-2.17	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95507	0.8582	10	0.87932	D	0	-20.7268	19.0508	0.93043	0.0:1.0:0.0:0.0	.	123	Q9HAC8	UBTD1_HUMAN	L	123	ENSP00000359698:P123L	ENSP00000359698:P123L	P	+	2	0	UBTD1	99319954	1.000000	0.71417	0.385000	0.26158	0.010000	0.07245	7.818000	0.86416	2.687000	0.91594	0.655000	0.94253	CCG		0.652	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954	
SORCS1	114815	hgsc.bcm.edu	37	10	108432721	108432721	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:108432721G>A	ENST00000263054.6	-	15	1970	c.1963C>T	c.(1963-1965)Cgc>Tgc	p.R655C	SORCS1_ENST00000344440.6_Missense_Mutation_p.R655C|SORCS1_ENST00000369698.1_Missense_Mutation_p.R190C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	655					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATTCAGAGCGGTGGCTGAAG	0.438																																																	0			10											65.0	53.0	57.0					10																	108432721		2203	4300	6503	108422711	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1963C>T	10.37:g.108432721G>A	ENSP00000263054:p.Arg655Cys		108422711	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919886	0.92249	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.32515	1.45;1.45;1.45	5.56	5.56	0.83823	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.996;0.996;0.998	T	0.65615	-0.6125	9	.	.	.	-14.4438	19.5164	0.95167	0.0:0.0:1.0:0.0	.	655;655;655;655;655	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	190;655;655	ENSP00000358712:R190C;ENSP00000263054:R655C;ENSP00000345964:R655C	.	R	-	1	0	SORCS1	108422711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.450000	0.97607	2.630000	0.89119	0.561000	0.74099	CGC		0.438	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
KNDC1	85442	hgsc.bcm.edu	37	10	135012652	135012652	+	Silent	SNP	T	T	C	rs3008388	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:135012652T>C	ENST00000304613.3	+	14	2661	c.2640T>C	c.(2638-2640)gaT>gaC	p.D880D	KNDC1_ENST00000368572.2_Silent_p.D880D|KNDC1_ENST00000368571.2_Silent_p.D815D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	880	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGCGTGGATGCCTCGCCAC	0.687													C|||	2060	0.411342	0.1203	0.4049	5008	,	,		11469	0.6091		0.4384	False		,,,				2504	0.5777																0			10											9.0	9.0	9.0					10																	135012652		2159	4223	6382	134862642	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2640T>C	10.37:g.135012652T>C			134862642	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
C5orf34	375444	hgsc.bcm.edu	37	5	43505984	43505984	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:43505984G>T	ENST00000306862.2	-	4	1173	c.798C>A	c.(796-798)agC>agA	p.S266R	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	266			S -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.					p.S266R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAGACATATTGCTGATTTTAT	0.393																																																	1	Substitution - Missense(1)	breast(1)	5											94.0	97.0	96.0					5																	43505984		2203	4300	6503	43541741	SO:0001583	missense	375444			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.798C>A	5.37:g.43505984G>T	ENSP00000303490:p.Ser266Arg		43541741		Missense_Mutation	SNP	ENST00000306862.2	37	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.515035	0.04200	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.46819	0.86	5.03	-0.617	0.11579	.	0.813217	0.11639	N	0.544023	T	0.28466	0.0704	L	0.31926	0.97	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.23048	-1.0199	10	0.13853	T	0.58	0.5877	4.4403	0.11570	0.5555:0.188:0.2565:0.0	.	266	Q96MH7	CE034_HUMAN	R	266;152	ENSP00000303490:S266R	ENSP00000303490:S266R	S	-	3	2	C5orf34	43541741	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.010000	0.12743	0.166000	0.19597	0.591000	0.81541	AGC		0.393	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566	
IPO11	51194	hgsc.bcm.edu	37	5	61826559	61826559	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:61826559C>A	ENST00000325324.6	+	22	2205	c.2036C>A	c.(2035-2037)cCa>cAa	p.P679Q	IPO11_ENST00000409296.3_Missense_Mutation_p.P719Q|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	679					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.P679>?(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GAAAACAGTCCATGTATTACA	0.318																																																	1	Complex(1)	skin(1)	5											124.0	118.0	120.0					5																	61826559		2202	4299	6501	61862316	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2036C>A	5.37:g.61826559C>A	ENSP00000316651:p.Pro679Gln		61862316	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581867	0.86748	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.70399	-0.48;-0.48	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.105429	0.64402	D	0.000003	T	0.80994	0.4731	M	0.83483	2.645	0.80722	D	1	P;P	0.48230	0.905;0.907	P;P	0.51516	0.672;0.472	T	0.81839	-0.0748	10	0.39692	T	0.17	.	18.6774	0.91534	0.0:1.0:0.0:0.0	.	719;679	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	Q	679;719;249	ENSP00000316651:P679Q;ENSP00000386992:P719Q	ENSP00000316651:P679Q	P	+	2	0	IPO11	61862316	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.023000	0.76437	2.507000	0.84556	0.650000	0.86243	CCA		0.318	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
MAP1B	4131	hgsc.bcm.edu	37	5	71490301	71490301	+	Silent	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:71490301G>A	ENST00000296755.7	+	5	1417	c.1119G>A	c.(1117-1119)aaG>aaA	p.K373K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	373					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAAACATCAAGATGAAGAGAA	0.398																																					Melanoma(17;367 822 11631 31730 47712)												0			5											67.0	64.0	65.0					5																	71490301		2203	4300	6503	71526057	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1119G>A	5.37:g.71490301G>A			71526057	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.398	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
SPZ1	84654	hgsc.bcm.edu	37	5	79616672	79616672	+	Missense_Mutation	SNP	G	G	A	rs562377054		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:79616672G>A	ENST00000296739.4	+	1	883	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	213	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTGGTAAATCGTTTAGAAGAA	0.348																																																	0			5											59.0	54.0	56.0					5																	79616672		1823	4073	5896	79652428	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.638G>A	5.37:g.79616672G>A	ENSP00000369611:p.Arg213His		79652428	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	3.940	-0.014351	0.07681	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.42900	0.96;1.55	4.08	-8.15	0.01065	.	2.001320	0.02385	N	0.079180	T	0.26521	0.0648	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	10	0.15499	T	0.54	-8.6677	9.3814	0.38316	0.4377:0.1017:0.4606:0.0	.	213	Q9BXG8	SPZ1_HUMAN	H	213	ENSP00000426530:R213H;ENSP00000369611:R213H	ENSP00000369611:R213H	R	+	2	0	SPZ1	79652428	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.126000	0.03254	-1.994000	0.00972	-1.311000	0.01308	CGT		0.348	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
APC	324	hgsc.bcm.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*			P25054	APC_HUMAN	adenomatous polyposis coli	1450	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.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(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)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	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"""	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	5	GRCh37	CM930030	APC	M	rs121913332						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	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.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA3	56145	hgsc.bcm.edu	37	5	140182324	140182324	+	Silent	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140182324C>T	ENST00000522353.2	+	1	1542	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S514S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697																																																	0			5											77.0	79.0	79.0					5																	140182324		2203	4299	6502	140162508	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1542C>T	5.37:g.140182324C>T			140162508	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA10	56139	hgsc.bcm.edu	37	5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	753	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672																																																	0			5											50.0	57.0	54.0					5																	140237891		1322	2289	3611	140218075	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2258G>A	5.37:g.140237891G>A	ENSP00000304234:p.Arg753Gln		140218075	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	5.800	0.331998	0.10956	.	.	ENSG00000250120	ENST00000307360	T	0.14022	2.54	3.79	0.935	0.19483	.	.	.	.	.	T	0.07369	0.0186	L	0.28776	0.89	0.09310	N	0.999999	B;B	0.31413	0.322;0.216	B;B	0.21708	0.036;0.024	T	0.38286	-0.9668	9	0.21014	T	0.42	.	4.4399	0.11568	0.3879:0.1603:0.4518:0.0	.	753;753	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	753	ENSP00000304234:R753Q	ENSP00000304234:R753Q	R	+	2	0	PCDHA10	140218075	0.000000	0.05858	0.761000	0.31378	0.599000	0.36880	0.435000	0.21510	0.059000	0.16252	0.462000	0.41574	CGG		0.672	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA13	56136	hgsc.bcm.edu	37	5	140263141	140263141	+	Missense_Mutation	SNP	G	G	A	rs144498761		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140263141G>A	ENST00000289272.2	+	1	1288	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G430R|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	430	Cadherin 4. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGGGACGGGGGCTCGCC	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)												0			5											91.0	96.0	94.0					5																	140263141		2203	4300	6503	140243325	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1288G>A	5.37:g.140263141G>A	ENSP00000289272:p.Gly430Arg		140243325	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	5.077	0.199804	0.09652	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.72	5.19	2.35	0.29111	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.44871	0.1314	L	0.55834	1.745	0.20307	N	0.999913	B;B;B	0.30741	0.293;0.178;0.27	B;B;B	0.42188	0.379;0.1;0.075	T	0.42766	-0.9432	9	0.25106	T	0.35	.	3.4178	0.07382	0.2153:0.1134:0.5552:0.1161	.	430;430;430	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	R	430	ENSP00000386821:G430R;ENSP00000289272:G430R	ENSP00000289272:G430R	G	+	1	0	PCDHA13	140243325	0.000000	0.05858	0.094000	0.20943	0.446000	0.32137	-0.790000	0.04604	0.536000	0.28733	0.561000	0.74099	GGG		0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725113	140725113	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140725113G>A	ENST00000253812.6	+	1	1513	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	505	Cadherin 5. {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)	p.V505I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTCCTTCGTCTCTATCAA	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)	5											70.0	79.0	76.0					5																	140725113		2115	4263	6378	140705297	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1513G>A	5.37:g.140725113G>A	ENSP00000253812:p.Val505Ile		140705297	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	7.652	0.683080	0.14907	.	.	ENSG00000254245	ENST00000253812	T	0.60920	0.15	5.36	-3.5	0.04710	Cadherin (4);Cadherin-like (1);	0.000000	0.30338	U	0.009846	T	0.28167	0.0695	N	0.13198	0.31	0.09310	N	1	B;B	0.23891	0.093;0.051	B;B	0.23716	0.048;0.044	T	0.07751	-1.0756	10	0.27785	T	0.31	.	2.5247	0.04689	0.3725:0.1919:0.3386:0.0969	.	505;505	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	505	ENSP00000253812:V505I	ENSP00000253812:V505I	V	+	1	0	PCDHGA3	140705297	0.000000	0.05858	0.006000	0.13384	0.858000	0.48976	-0.554000	0.06006	-1.035000	0.03291	0.563000	0.77884	GTC		0.552	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGA5	56110	hgsc.bcm.edu	37	5	140745765	140745765	+	Missense_Mutation	SNP	C	C	T	rs187196267		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140745765C>T	ENST00000518069.1	+	1	1868	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	623	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCACACGGGCGAGGTG	0.652													.|||	1	0.000199681	0.0	0.0	5008	,	,		18951	0.0		0.001	False		,,,				2504	0.0																0			5						C	,,,,MET/THR,,,MET/THR	0,4406		0,0,2203	60.0	69.0	66.0		,,,,1868,,,1868	4.6	0.9	5		66	1,8599		0,1,4299	no	intron,intron,intron,intron,missense,intron,intron,missense	PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_032054.1	,,,,81,,,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,	,,,,623/932,,,623/814	140745765	1,13005	2203	4300	6503	140725949	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1868C>T	5.37:g.140745765C>T	ENSP00000429834:p.Thr623Met		140725949	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	9.681	1.149258	0.21288	0.0	1.16E-4	ENSG00000253485	ENST00000518069	T	0.58060	0.36	4.58	4.58	0.56647	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81351	0.4804	H	0.96748	3.875	0.22888	N	0.998603	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.75836	-0.3177	9	0.87932	D	0	.	14.1717	0.65514	0.0:0.849:0.151:0.0	.	623;623	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	M	623	ENSP00000429834:T623M	ENSP00000429834:T623M	T	+	2	0	PCDHGA5	140725949	0.000000	0.05858	0.945000	0.38365	0.049000	0.14656	-0.467000	0.06664	2.266000	0.75297	0.563000	0.77884	ACG		0.652	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140750565	140750565	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140750565A>G	ENST00000576222.1	+	1	735	c.604A>G	c.(604-606)Agg>Ggg	p.R202G	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	202	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTGGACAGGGAAGAGCA	0.562																																																	0			5											58.0	62.0	60.0					5																	140750565		2043	4212	6255	140730749	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.604A>G	5.37:g.140750565A>G	ENSP00000461862:p.Arg202Gly		140730749	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.562	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA8	9708	hgsc.bcm.edu	37	5	140772816	140772816	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:140772816G>A	ENST00000398604.2	+	1	436	c.436G>A	c.(436-438)Gcg>Acg	p.A146T	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	146	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)	p.A146T(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGAAATCGCGGTTCCTGG	0.443																																																	1	Substitution - Missense(1)	lung(1)	5											51.0	56.0	54.0					5																	140772816		1933	4151	6084	140753000	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.436G>A	5.37:g.140772816G>A	ENSP00000381605:p.Ala146Thr		140753000	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	6.133	0.392706	0.11638	.	.	ENSG00000253767	ENST00000398604	T	0.55413	0.52	5.41	2.63	0.31362	Cadherin (3);Cadherin-like (1);	0.699665	0.10826	U	0.629889	T	0.32255	0.0823	N	0.20807	0.61	0.23287	N	0.99798	B;B	0.17852	0.014;0.024	B;B	0.17979	0.02;0.016	T	0.24905	-1.0147	10	0.20519	T	0.43	.	4.0745	0.09897	0.3461:0.0:0.5014:0.1526	.	146;146	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	T	146	ENSP00000381605:A146T	ENSP00000381605:A146T	A	+	1	0	PCDHGA8	140753000	0.005000	0.15991	0.889000	0.34880	0.695000	0.40330	0.445000	0.21677	0.258000	0.21686	0.655000	0.94253	GCG		0.443	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
TCERG1	10915	hgsc.bcm.edu	37	5	145887490	145887490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:145887490C>T	ENST00000296702.5	+	20	3003	c.2965C>T	c.(2965-2967)Cga>Tga	p.R989*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R968*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	989	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGATCCTCGATGTATTAA	0.343																																																	0			5											99.0	93.0	95.0					5																	145887490		2203	4300	6503	145867683	SO:0001587	stop_gained	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2965C>T	5.37:g.145887490C>T	ENSP00000296702:p.Arg989*		145867683	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	40	8.332635	0.98764	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.484	14.9707	0.71232	0.1761:0.8239:0.0:0.0	.	.	.	.	X	989;968	.	ENSP00000296702:R989X	R	+	1	2	TCERG1	145867683	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.888000	0.63164	2.810000	0.96702	0.585000	0.79938	CGA		0.343	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
SYNPO	11346	hgsc.bcm.edu	37	5	150028323	150028323	+	Silent	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr5:150028323T>C	ENST00000394243.1	+	3	1592	c.1218T>C	c.(1216-1218)acT>acC	p.T406T	SYNPO_ENST00000519664.1_Silent_p.T162T|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Silent_p.T162T|SYNPO_ENST00000522122.1_Silent_p.T406T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	406					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATCAACTCCAGCTACCA	0.582																																																	0			5											169.0	177.0	174.0					5																	150028323		2203	4300	6503	150008516	SO:0001819	synonymous_variant	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1218T>C	5.37:g.150028323T>C			150008516	A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	CCDS54937.1																																																																																				0.582	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286	
SLC4A11	83959	hgsc.bcm.edu	37	20	3209659	3209659	+	Splice_Site	SNP	T	T	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:3209659T>C	ENST00000380056.3	-	16	2114		c.e16-2		SLC4A11_ENST00000380059.3_Splice_Site|SLC4A11_ENST00000539553.2_Splice_Site|SLC4A11_ENST00000488544.1_Splice_Site	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11						bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTCACCAGCCTGCAGCAGACG	0.652																																					NSCLC(190;922 2139 10266 10292 38692)												0			20											82.0	69.0	73.0					20																	3209659		2202	4300	6502	3157659	SO:0001630	splice_region_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2067-2A>G	20.37:g.3209659T>C			3157659	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Splice_Site	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581901	0.65992	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8866	0.70572	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A11	3157659	1.000000	0.71417	0.968000	0.41197	0.911000	0.54048	7.929000	0.87595	1.989000	0.58080	0.379000	0.24179	.		0.652	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		Intron
TP53TG5	27296	hgsc.bcm.edu	37	20	44006956	44006956	+	5'UTR	SNP	C	C	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr20:44006956C>T	ENST00000372726.3	-	0	77				TP53TG5_ENST00000494455.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_5'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5						intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GTTCAGCCAGCACTCAGGCTG	0.557																																																	0			20																																								43440370	SO:0001623	5_prime_UTR_variant	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.-80G>A	20.37:g.44006956C>T			43440370		Splice_Site	SNP	ENST00000372726.3	37	CCDS13352.1																																																																																				0.557	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477	
UBR4	23352	hgsc.bcm.edu	37	1	19436959	19436959	+	Splice_Site	SNP	C	C	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:19436959C>A	ENST00000375254.3	-	80	11920		c.e80-1		UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTACTTGCCTAGAAGGCAA	0.512																																																	0			1											47.0	45.0	46.0					1																	19436959		2203	4300	6503	19309546	SO:0001630	splice_region_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11893-1G>T	1.37:g.19436959C>A			19309546	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495468	0.85069	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8256	0.92117	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR4	19309546	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.298000	0.78815	2.793000	0.96121	0.655000	0.94253	.		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron
DCBLD1	285761	hgsc.bcm.edu	37	6	117859999	117859999	+	Splice_Site	SNP	G	G	T			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr6:117859999G>T	ENST00000338728.5	+	8	1096		c.e8+1		GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AAAATAACAGGTGCAGAAAAT	0.453																																																	0			6											19.0	19.0	19.0					6																	117859999		2203	4299	6502	117966692	SO:0001630	splice_region_variant	285761			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.976+1G>T	6.37:g.117859999G>T			117966692	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Splice_Site	SNP	ENST00000338728.5	37		.	.	.	.	.	.	.	.	.	.	G	17.97	3.517840	0.64634	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7101	0.85383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCBLD1	117966692	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.335000	0.79234	2.166000	0.68216	0.555000	0.69702	.		0.453	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	Intron
COL11A1	1301	hgsc.bcm.edu	37	1	103468327	103468328	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr1:103468327_103468328insC	ENST00000370096.3	-	22	2330_2331	c.2018_2019insG	c.(2017-2019)ggcfs	p.G673fs	COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.G634fs|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Frame_Shift_Ins_p.G685fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.G557fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	673	Collagen-like 4.|Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCTGGGGGGCCATCTACACC	0.322																																																	0			1																																								103240916	SO:0001589	frameshift_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2019dupG	1.37:g.103468329_103468329dupC	ENSP00000359114:p.Gly673fs		103240915	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Ins	INS	ENST00000370096.3	37	CCDS778.1																																																																																				0.322	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
SSPO	23145	hgsc.bcm.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs60594151	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													A|AA|A|insertion	1839	0.367212	0.4402	0.3473	5008	,	,		16407	0.4206		0.2942	False		,,,				2504	0.3027																0			7								1497,2307		384,729,789	5.0	7.0	6.0			1.8	0.2	7	dbSNP_132	8	2537,5339		482,1573,1883	no	frameshift	SSPO	NM_198455.2		866,2302,2672	A1A1,A1R,RR		32.2118,39.3533,34.5377			149515189	4034,7646	1638	3723	5361	149146122			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515189delA			149146122	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
CSMD3	114788	hgsc.bcm.edu	37	8	113240986	113240986	+	Splice_Site	DEL	T	T	-			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr8:113240986delT	ENST00000297405.5	-	70	11207	c.10963delA	c.(10963-10965)agg>gg	p.R3655fs	CSMD3_ENST00000343508.3_Splice_Site_p.R3615fs|CSMD3_ENST00000455883.2_Splice_Site_p.R3486fs|CSMD3_ENST00000352409.3_Splice_Site_p.R3585fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3655						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						TGAGCTTACCTTTGTTTATAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											63.0	69.0	67.0					8																	113240986		2203	4295	6498	113310162	SO:0001630	splice_region_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.10964+1A>-	8.37:g.113240986delT			113310162	Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	CCDS6315.1																																																																																				0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Frame_Shift_Del
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr10:46999591_46999592insATGAGGGAG	ENST00000374317.1	+	3	984_985	c.711_712insATGAGGGAG	c.(712-714)atg>ATGAGGGAGatg	p.238_238M>MREM	GPRIN2_ENST00000374314.4_In_Frame_Ins_p.238_238M>MREM	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	238								p.G237_M238insMRE(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TACTCTGTGGCATGAGGGAGGT	0.629														2399	0.479034	0.4697	0.4856	5008	,	,		38874	0.4782		0.4761	False		,,,				2504	0.4908																1	Insertion - In frame(1)	breast(1)	10								2080,27,2157		11,3,2055,0,24,39						0.9	0.0		dbSNP_130	49	3974,98,4180		16,7,3935,0,91,77	no	codingComplex	GPRIN2	NM_014696.3		27,10,5990,0,115,116	A1A1,A1A2,A1R,A2A2,A2R,RR		49.3456,49.4137,49.3688				6054,125,6337				46419598	SO:0001652	inframe_insertion	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.712_720dupATGAGGGAG	10.37:g.46999592_46999600dupATGAGGGAG	Exception_encountered		46419597	Q5SVF0	In_Frame_Ins	INS	ENST00000374317.1	37	CCDS31192.1																																																																																				0.629	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
VWCE	220001	hgsc.bcm.edu	37	11	61040722	61040723	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr11:61040722_61040723insC	ENST00000335613.5	-	13	2033_2034	c.1647_1648insG	c.(1645-1650)cggctgfs	p.L550fs	VWCE_ENST00000535710.1_Frame_Shift_Ins_p.L15fs	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	550	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						CCAGGGCCCAGCCGCCACTCTT	0.653																																																	0			11																																								60797299	SO:0001589	frameshift_variant	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.1648dupG	11.37:g.61040724_61040724dupC	ENSP00000334186:p.Leu550fs		60797298	A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Ins	INS	ENST00000335613.5	37	CCDS8002.1																																																																																				0.653	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718	
IPO8	10526	hgsc.bcm.edu	37	12	30822191	30822192	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:30822191_30822192insA	ENST00000256079.4	-	10	1407_1408	c.1069_1070insT	c.(1069-1071)tctfs	p.S357fs	IPO8_ENST00000544829.1_Frame_Shift_Ins_p.S152fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	357					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACACATCACAGAAAAAATCACA	0.297																																																	0			12																																								30713459	SO:0001589	frameshift_variant	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1070dupT	12.37:g.30822197_30822197dupA	ENSP00000256079:p.Ser357fs		30713458	B7Z7M3	Frame_Shift_Ins	INS	ENST00000256079.4	37	CCDS8719.1																																																																																				0.297	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
ITGB7	3695	hgsc.bcm.edu	37	12	53586991	53587029	+	In_Frame_Del	DEL	CTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC	CTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC	-	rs61730604|rs201186200|rs371662481|rs112135194|rs367794294	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	CTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC	CTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr12:53586991_53587029delCTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC	ENST00000267082.5	-	12	1852_1890	c.1621_1659delGGTCACTGTCAATGTGGACGCTGCAGCTGCAGTGGACAG	c.(1621-1659)ggtcactgtcaatgtggacgctgcagctgcagtggacagdel	p.GHCQCGRCSCSGQ541del	ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_In_Frame_Del_p.GHCQCGRCSCSGQ541del|ITGB7_ENST00000550743.2_Intron	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	541	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCAGAGCTCTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACCCTTTCCACTG	0.628																																																	0			12																																								51873296	SO:0001651	inframe_deletion	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1621_1659delGGTCACTGTCAATGTGGACGCTGCAGCTGCAGTGGACAG	12.37:g.53586991_53587029delCTGTCCACTGCAGCTGCAGCGTCCACATTGACAGTGACC	ENSP00000267082:p.Gly541_Gln553del		51873258	Q9UCP7|Q9UCS7	In_Frame_Del	DEL	ENST00000267082.5	37	CCDS8849.1																																																																																				0.628	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
NBEA	26960	hgsc.bcm.edu	37	13	35733400	35733401	+	Frame_Shift_Ins	INS	-	-	A	rs376327034		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr13:35733400_35733401insA	ENST00000400445.3	+	22	3626_3627	c.3092_3093insA	c.(3091-3096)acaaaafs	p.TK1031fs	NBEA_ENST00000379939.2_Frame_Shift_Ins_p.TK1031fs|NBEA_ENST00000540320.1_Frame_Shift_Ins_p.TK1031fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.TK1031fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1031					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTCATGTCAACAAAAGTGTCAG	0.401																																																	0			13																																								34631401	SO:0001589	frameshift_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3096dupA	13.37:g.35733404_35733404dupA	ENSP00000383295:p.Thr1031fs		34631400	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	ENST00000400445.3	37	CCDS45026.1																																																																																				0.401	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NRL	4901	hgsc.bcm.edu	37	14	24550505	24550505	+	Frame_Shift_Del	DEL	G	G	-	rs12883914		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr14:24550505delG	ENST00000561028.1	-	3	973	c.654delC	c.(652-654)cgcfs	p.R218fs	NRL_ENST00000396997.1_Frame_Shift_Del_p.R218fs|NRL_ENST00000396995.1_Frame_Shift_Del_p.R79fs|NRL_ENST00000397002.2_Frame_Shift_Del_p.R218fs|NRL_ENST00000560550.1_Frame_Shift_Del_p.R79fs			P54845	NRL_HUMAN	neural retina leucine zipper	218	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		GCCGGTCACAGCGAGCCTTGT	0.741																																																	0			14											3.0	4.0	4.0					14																	24550505		1953	3896	5849	23620345	SO:0001589	frameshift_variant	4901				CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.654delC	14.37:g.24550505delG	ENSP00000454062:p.Arg218fs		23620345	A8MX14|Q53XD0	Frame_Shift_Del	DEL	ENST00000561028.1	37	CCDS9608.1																																																																																				0.741	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1		
TEX14	56155	hgsc.bcm.edu	37	17	56676375	56676376	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	CT	CT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:56676375_56676376delCT	ENST00000240361.8	-	14	2433_2434	c.2348_2349delAG	c.(2347-2349)gagfs	p.E783fs	TEX14_ENST00000389934.3_Frame_Shift_Del_p.E777fs|TEX14_ENST00000349033.5_Frame_Shift_Del_p.E777fs			Q8IWB6	TEX14_HUMAN	testis expressed 14	783					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTTGTAAACTCTCTTGAAGT	0.46																																																	0			17																																								54031375	SO:0001589	frameshift_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2348_2349delAG	17.37:g.56676379_56676380delCT	ENSP00000240361:p.Glu783fs		54031374	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Frame_Shift_Del	DEL	ENST00000240361.8	37	CCDS56042.1																																																																																				0.460	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
SOX9	6662	hgsc.bcm.edu	37	17	70119814	70119815	+	Frame_Shift_Ins	INS	-	-	GT	rs201477430		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr17:70119814_70119815insGT	ENST00000245479.2	+	3	1188_1189	c.816_817insGT	c.(817-819)gtgfs	p.V273fs		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	273					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTTCCGCGACGTGGACATCGG	0.653																																					Pancreas(42;83 1041 2320 35205 39456)												0			17																																								67631410	SO:0001589	frameshift_variant	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.817_818dupGT	17.37:g.70119815_70119816dupGT	ENSP00000245479:p.Val273fs		67631409	Q53Y80	Frame_Shift_Ins	INS	ENST00000245479.2	37	CCDS11689.1																																																																																				0.653	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
KMT2B	9757	hgsc.bcm.edu	37	19	36210763	36210764	+	Frame_Shift_Ins	INS	-	-	C	rs532152042|rs60207923	byFrequency	TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	g.chr19:36210763_36210764insC	ENST00000222270.7	+	3	514_515	c.514_515insC	c.(514-516)accfs	p.T172fs	KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.T172fs|KMT2B_ENST00000341701.1_Frame_Shift_Ins_p.T172fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	172			T -> I (in dbSNP:rs60207923).		chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGTGGCTCCTACCCCCCCAAAG	0.634																																																	0			19								23,3623		0,23,1800						0.3	1.0			50	30,7828		1,28,3900	no	frameshift	MLL4	NM_014727.1		1,51,5700	A1A1,A1R,RR		0.3818,0.6308,0.4607				53,11451				40902604	SO:0001589	frameshift_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.521dupC	19.37:g.36210770_36210770dupC	ENSP00000222270:p.Thr172fs		40902603	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	CCDS46055.1																																																																																				0.634	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-DC-5337-01A-01D-1657-10	TCGA-DC-5337-10A-01D-1657-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	70c26b7f-b356-415f-bdcb-5e15e2f0c42c	50d7d9b0-542b-4a97-9ed3-296874e16a49	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		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
