#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
INTS1	26173	hgsc.bcm.edu	37	7	1522322	1522322	+	Missense_Mutation	SNP	G	G	A	rs543463656		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:1522322G>A	ENST00000404767.3	-	27	3648	c.3563C>T	c.(3562-3564)gCg>gTg	p.A1188V	INTS1_ENST00000389470.4_Missense_Mutation_p.A1350V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1188					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCAGCAGCGCCTGGAACTC	0.647													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17964	0.0		0.0	False		,,,				2504	0.0																0			7											52.0	62.0	58.0					7																	1522322		2080	4205	6285	1488848	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3563C>T	7.37:g.1522322G>A	ENSP00000385722:p.Ala1188Val		1488848	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496840	0.12762	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.42900	0.96;0.99	4.67	2.71	0.32032	.	0.612906	0.12290	U	0.482041	T	0.28566	0.0707	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.17107	-1.0380	10	0.28530	T	0.3	.	12.4981	0.55940	0.0:0.0:0.6387:0.3613	.	1188	Q8N201	INT1_HUMAN	V	1188;1350	ENSP00000385722:A1188V;ENSP00000374121:A1350V	ENSP00000374121:A1350V	A	-	2	0	INTS1	1488848	0.133000	0.22466	0.003000	0.11579	0.282000	0.26991	2.532000	0.45659	0.310000	0.22990	-0.314000	0.08810	GCG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
SDK1	221935	hgsc.bcm.edu	37	7	4014071	4014071	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:4014071G>A	ENST00000404826.2	+	13	2027	c.1888G>A	c.(1888-1890)Ggg>Agg	p.G630R	SDK1_ENST00000389531.3_Missense_Mutation_p.G630R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	630	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGAAGGACGGGTCCCTTCT	0.567																																																	0			7											150.0	115.0	127.0					7																	4014071		2203	4300	6503	3980597	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1888G>A	7.37:g.4014071G>A	ENSP00000385899:p.Gly630Arg		3980597	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770546	0.90108	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.82255	-1.59;-1.59	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.93501	0.7926	M	0.92122	3.275	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.94812	0.7979	10	0.87932	D	0	.	19.0581	0.93074	0.0:0.0:1.0:0.0	.	630	Q7Z5N4	SDK1_HUMAN	R	630	ENSP00000385899:G630R;ENSP00000374182:G630R	ENSP00000374182:G630R	G	+	1	0	SDK1	3980597	1.000000	0.71417	0.996000	0.52242	0.759000	0.43091	7.159000	0.77483	2.484000	0.83849	0.563000	0.77884	GGG		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
HOXA2	3199	hgsc.bcm.edu	37	7	27140404	27140404	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:27140404T>C	ENST00000222718.5	-	2	1382	c.1072A>G	c.(1072-1074)Agc>Ggc	p.S358G	HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	358					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S358G(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAGTCTAAGCTGTCAGCTGAA	0.428																																																	1	Substitution - Missense(1)	ovary(1)	7											93.0	92.0	92.0					7																	27140404		2203	4300	6503	27106929	SO:0001583	missense	3199				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1072A>G	7.37:g.27140404T>C	ENSP00000222718:p.Ser358Gly		27106929	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904289	0.33628	.	.	ENSG00000105996	ENST00000222718	T	0.10099	2.91	5.66	5.66	0.87406	.	0.178481	0.64402	D	0.000014	T	0.16342	0.0393	M	0.66506	2.035	0.44079	D	0.996839	B	0.28439	0.212	B	0.30316	0.114	T	0.01476	-1.1345	10	0.39692	T	0.17	.	15.5758	0.76380	0.0:0.0:0.0:1.0	.	358	O43364	HXA2_HUMAN	G	358	ENSP00000222718:S358G	ENSP00000222718:S358G	S	-	1	0	HOXA2	27106929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.912000	0.69948	2.153000	0.67306	0.533000	0.62120	AGC		0.428	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
EGFR	1956	hgsc.bcm.edu	37	7	55249096	55249096	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:55249096C>T	ENST00000275493.2	+	20	2571	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Silent_p.L745L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.L753L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGGCTGCCTCCTGGACTATG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											93.0	81.0	85.0					7																	55249096		2203	4300	6503	55216590	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2394C>T	7.37:g.55249096C>T			55216590	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF804B	219578	hgsc.bcm.edu	37	7	88963859	88963859	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:88963859A>C	ENST00000333190.4	+	4	2172	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	521							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTTTAACTGAAGACCAACAAA	0.373										HNSCC(36;0.09)																																							0			7											42.0	44.0	43.0					7																	88963859		2200	4300	6500	88801795	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1563A>C	7.37:g.88963859A>C	ENSP00000329638:p.Glu521Asp		88801795	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415772	0.25552	.	.	ENSG00000182348	ENST00000333190	T	0.05199	3.48	5.49	5.49	0.81192	.	0.158609	0.44902	D	0.000407	T	0.05044	0.0135	N	0.22421	0.69	0.22330	N	0.9992	B	0.19817	0.039	B	0.14023	0.01	T	0.31420	-0.9944	10	0.41790	T	0.15	-13.1276	9.532	0.39200	0.922:0.0:0.078:0.0	.	521	A4D1E1	Z804B_HUMAN	D	521	ENSP00000329638:E521D	ENSP00000329638:E521D	E	+	3	2	ZNF804B	88801795	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	3.260000	0.51523	2.311000	0.77944	0.533000	0.62120	GAA		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
FLNC	2318	hgsc.bcm.edu	37	7	128477225	128477225	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr7:128477225G>A	ENST00000325888.8	+	3	874	c.613G>A	c.(613-615)Gac>Aac	p.D205N	FLNC_ENST00000346177.6_Missense_Mutation_p.D205N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	205	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.D205Y(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCTCTGCCCCGACTGGGAGGC	0.667																																																	1	Substitution - Missense(1)	breast(1)	7											12.0	15.0	14.0					7																	128477225		1988	4151	6139	128264461	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.613G>A	7.37:g.128477225G>A	ENSP00000327145:p.Asp205Asn		128264461	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434164	0.62955	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.95412	-3.7;-3.7	6.08	5.1	0.69264	Calponin homology domain (5);	0.105384	0.64402	D	0.000006	D	0.93858	0.8035	M	0.63428	1.95	0.48571	D	0.999675	B;B	0.19331	0.03;0.035	B;B	0.24269	0.004;0.052	D	0.91065	0.4888	10	0.72032	D	0.01	.	12.7077	0.57070	0.1052:0.0:0.8948:0.0	.	205;205	Q14315-2;Q14315	.;FLNC_HUMAN	N	205	ENSP00000327145:D205N;ENSP00000344002:D205N	ENSP00000327145:D205N	D	+	1	0	FLNC	128264461	1.000000	0.71417	0.979000	0.43373	0.583000	0.36354	6.743000	0.74848	2.894000	0.99253	0.655000	0.94253	GAC		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
SEL1L2	80343	hgsc.bcm.edu	37	20	13867033	13867033	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr20:13867033C>T	ENST00000284951.5	-	9	875	c.801G>A	c.(799-801)acG>acA	p.T267T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.T267T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	267						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CAGGTCTTTCCGTTAGTCTCA	0.373																																																	0			20											133.0	122.0	125.0					20																	13867033		1837	4094	5931	13815033	SO:0001819	synonymous_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.801G>A	20.37:g.13867033C>T			13815033	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.373	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
BPIFB2	80341	hgsc.bcm.edu	37	20	31606462	31606462	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr20:31606462G>A	ENST00000170150.3	+	9	884	c.689G>A	c.(688-690)gGc>gAc	p.G230D		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	230						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TTCCTGCTGGGCAAGCCCATC	0.637																																																	0			20											122.0	120.0	121.0					20																	31606462		2203	4300	6503	31070123	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.689G>A	20.37:g.31606462G>A	ENSP00000170150:p.Gly230Asp		31070123	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837505	0.71373	.	.	ENSG00000078898	ENST00000170150	T	0.08634	3.07	5.39	3.39	0.38822	.	0.117930	0.38663	N	0.001618	T	0.21186	0.0510	M	0.84585	2.705	0.43994	D	0.996694	P	0.52316	0.952	P	0.53593	0.73	T	0.00735	-1.1588	10	0.72032	D	0.01	-14.932	7.4039	0.26979	0.0908:0.1695:0.7398:0.0	.	230	Q8N4F0	BPIB2_HUMAN	D	230	ENSP00000170150:G230D	ENSP00000170150:G230D	G	+	2	0	BPIFB2	31070123	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.103000	0.50298	0.727000	0.32360	0.561000	0.74099	GGC		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	
RIMS4	140730	hgsc.bcm.edu	37	20	43378887	43378887	+	IGR	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr20:43378887C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.A134V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CGGCTGAACGCGGTGGTGCGG	0.682																																																	0			20											30.0	27.0	28.0					20																	43378887		2202	4299	6501	42812301	SO:0001628	intergenic_variant	60598				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378887C>T			42812301	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309919	0.40895	.	.	ENSG00000124249	ENST00000372861	D	0.97256	-4.31	4.29	3.26	0.37387	.	0.432064	0.22167	U	0.063700	D	0.92890	0.7738	L	0.29908	0.895	0.23361	N	0.997832	B	0.12630	0.006	B	0.15484	0.013	D	0.86044	0.1521	10	0.42905	T	0.14	.	10.3317	0.43827	0.0:0.838:0.0:0.162	.	134	Q9H427	KCNKF_HUMAN	V	134	ENSP00000361952:A134V	ENSP00000361952:A134V	A	+	2	0	KCNK15	42812301	0.998000	0.40836	1.000000	0.80357	0.522000	0.34438	3.842000	0.55858	2.207000	0.71202	0.655000	0.94253	GCG		0.682	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
ZMYND8	23613	hgsc.bcm.edu	37	20	45874874	45874874	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr20:45874874A>G	ENST00000311275.7	-	14	2355	c.2102T>C	c.(2101-2103)gTc>gCc	p.V701A	ZMYND8_ENST00000352431.2_Missense_Mutation_p.V721A|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V696A|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V728A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.V696A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V701A|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V721A|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V701A|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V696A|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V701A|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V649A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V638A|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V721A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	701					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.V721G(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCCCAAATGGACTGTTGGGGA	0.473																																																	1	Substitution - Missense(1)	central_nervous_system(1)	20											173.0	163.0	166.0					20																	45874874		2203	4300	6503	45308281	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2102T>C	20.37:g.45874874A>G	ENSP00000312237:p.Val701Ala		45308281	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	A	13.78	2.340181	0.41398	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.91	5.91	0.95273	.	0.265743	0.37012	N	0.002285	T	0.58047	0.2095	L	0.55103	1.725	0.32905	D	0.513734	B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	0.45768	0.041;0.036;0.011;0.011;0.036;0.011;0.866;0.042;0.035;0.035;0.042;0.011;0.025;0.025;0.025;0.023;0.036;0.011	B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	0.48815	0.018;0.051;0.023;0.01;0.008;0.01;0.591;0.023;0.012;0.012;0.023;0.01;0.008;0.008;0.034;0.011;0.008;0.007	T	0.66933	-0.5798	10	0.33141	T	0.24	-15.4966	16.3483	0.83171	1.0:0.0:0.0:0.0	.	696;728;696;696;676;695;721;701;696;721;721;701;638;696;649;721;649;701	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	A	696;701;696;702;722;721;701;728;701;638;721;696;649	ENSP00000354166:V696A;ENSP00000312237:V701A;ENSP00000392964:V696A;ENSP00000335537:V721A;ENSP00000379577:V701A;ENSP00000439800:V728A;ENSP00000348246:V701A;ENSP00000396725:V638A;ENSP00000418210:V721A;ENSP00000361093:V696A;ENSP00000443086:V649A	ENSP00000262975:V702A	V	-	2	0	ZMYND8	45308281	1.000000	0.71417	0.222000	0.23844	0.691000	0.40173	7.079000	0.76829	2.254000	0.74563	0.533000	0.62120	GTC		0.473	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
HIRA	7290	hgsc.bcm.edu	37	22	19363215	19363215	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:19363215G>A	ENST00000263208.5	-	15	1970	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	HIRA_ENST00000546308.1_Missense_Mutation_p.R528W|HIRA_ENST00000340170.4_Missense_Mutation_p.R572W|HIRA_ENST00000541063.1_Missense_Mutation_p.R528W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	572	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTTTGGACCGCTCTGTGAAC	0.562																																																	0			22											186.0	148.0	161.0					22																	19363215		2203	4300	6503	17743215	SO:0001583	missense	7290			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1714C>T	22.37:g.19363215G>A	ENSP00000263208:p.Arg572Trp		17743215	Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713654	0.89112	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.74421	-0.84;-0.77;-0.62;-0.62	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.965	T	0.82568	-0.0392	10	0.66056	D	0.02	-18.5411	18.5366	0.91013	0.0:0.0:1.0:0.0	.	528;572;572	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	W	572;572;528;81;528	ENSP00000345350:R572W;ENSP00000263208:R572W;ENSP00000446073:R528W;ENSP00000441870:R528W	ENSP00000263208:R572W	R	-	1	2	HIRA	17743215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.501000	0.73691	2.616000	0.88540	0.655000	0.94253	CGG		0.562	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
CHEK2	11200	hgsc.bcm.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T|G	T|G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	17	Substitution - Missense(9)|Substitution - coding silent(8)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	22																																								27421840|27421841	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu		27421840|27421841	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation|Silent	SNP	ENST00000405598.1	37	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
EP300	2033	hgsc.bcm.edu	37	22	41513646	41513646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:41513646C>T	ENST00000263253.7	+	2	1769	c.550C>T	c.(550-552)Caa>Taa	p.Q184*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	184					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCAATGGACAAGGGATAAT	0.502			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											118.0	96.0	103.0					22																	41513646		2203	4300	6503	39843592	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.550C>T	22.37:g.41513646C>T	ENSP00000263253:p.Gln184*		39843592	B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	48	14.324288	0.99790	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.11	6.11	0.99139	.	0.000000	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.2198	20.731	0.99711	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000263253:Q184X	Q	+	1	0	EP300	39843592	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.585000	0.60977	2.907000	0.99374	0.609000	0.83330	CAA		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	hgsc.bcm.edu	37	22	41548253	41548253	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:41548253A>G	ENST00000263253.7	+	16	4260	c.3041A>G	c.(3040-3042)gAg>gGg	p.E1014G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1014					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAAACAGAAGAGAGAAGCACT	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											41.0	44.0	43.0					22																	41548253		2203	4300	6503	39878199	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3041A>G	22.37:g.41548253A>G	ENSP00000263253:p.Glu1014Gly		39878199	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322360	0.41096	.	.	ENSG00000100393	ENST00000263253	D	0.84516	-1.86	5.68	4.61	0.57282	.	0.000000	0.48767	D	0.000162	T	0.74504	0.3725	N	0.19112	0.55	0.44798	D	0.997804	P	0.34522	0.455	B	0.32465	0.146	T	0.72537	-0.4263	10	0.48119	T	0.1	-11.5398	11.8175	0.52220	0.8685:0.0:0.0:0.1315	.	1014	Q09472	EP300_HUMAN	G	1014	ENSP00000263253:E1014G	ENSP00000263253:E1014G	E	+	2	0	EP300	39878199	1.000000	0.71417	0.877000	0.34402	0.180000	0.23129	4.846000	0.62860	0.926000	0.37118	0.533000	0.62120	GAG		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
PANX2	56666	hgsc.bcm.edu	37	22	50617505	50617505	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:50617505G>A	ENST00000395842.2	+	3	1833	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	PANX2_ENST00000159647.5_Silent_p.A611A	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	611					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGGCAAGGCGGAGCCCCTCA	0.731																																																	0			22											29.0	28.0	29.0					22																	50617505		2190	4297	6487	48959632	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1833G>A	22.37:g.50617505G>A			48959632	B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	CCDS14085.2																																																																																				0.731	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
NCAPH2	29781	hgsc.bcm.edu	37	22	50946857	50946857	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:50946857G>T	ENST00000420993.2	+	1	213	c.91G>T	c.(91-93)Ggc>Tgc	p.G31C	NCAPH2_ENST00000299821.11_Missense_Mutation_p.G31C|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_5'Flank|LMF2_ENST00000474879.2_5'Flank|NCAPH2_ENST00000395701.3_Missense_Mutation_p.G31C|LMF2_ENST00000216080.5_5'Flank|NCAPH2_ENST00000395698.3_Missense_Mutation_p.G31C	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	31					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGCCCAGCTGGGCGAGTATCT	0.751																																																	0			22											9.0	10.0	10.0					22																	50946857		1759	3927	5686	49293723	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.91G>T	22.37:g.50946857G>T	ENSP00000410088:p.Gly31Cys		49293723	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713872	0.89112	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.62	4.62	0.57501	.	0.192280	0.43747	D	0.000525	T	0.68467	0.3004	L	0.44542	1.39	0.54753	D	0.999989	D;D;D;D	0.76494	0.996;0.998;0.994;0.999	D;D;P;D	0.68483	0.919;0.919;0.831;0.958	T	0.70525	-0.4848	9	0.59425	D	0.04	-22.0299	16.5768	0.84704	0.0:0.0:1.0:0.0	.	31;31;31;31	Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	C	31	.	ENSP00000299821:G31C	G	+	1	0	NCAPH2	49293723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.540000	0.67205	2.580000	0.87095	0.555000	0.69702	GGC		0.751	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	
NOVA1	4857	hgsc.bcm.edu	37	14	26941584	26941584	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr14:26941584G>T	ENST00000344429.5	-	4	464	c.461C>A	c.(460-462)tCc>tAc	p.S154Y	NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000547619.1_Missense_Mutation_p.S154Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.S32Y|NOVA1_ENST00000539517.2_Missense_Mutation_p.S154Y	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	157					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGTAGTTGGGGAAGATGGCAA	0.388																																																	0			14											223.0	187.0	199.0					14																	26941584		2203	4300	6503	26011424	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.461C>A	14.37:g.26941584G>T	ENSP00000342387:p.Ser154Tyr		26011424	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781608	0.31502	.	.	ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T	0.48522	1.4;1.39;1.42;0.81;0.85;0.87;0.83	5.98	5.09	0.68999	.	0.220831	0.32028	N	0.006700	T	0.46073	0.1374	N	0.08118	0	0.42349	D	0.992364	P;P;D	0.56035	0.514;0.88;0.974	B;P;D	0.66979	0.354;0.608;0.948	T	0.55179	-0.8181	10	0.62326	D	0.03	-9.3152	11.0314	0.47774	0.1402:0.0:0.8598:0.0	.	154;157;154	P51513-2;P51513;P51513-4	.;NOVA1_HUMAN;.	Y	154;32;113;32;117;154;154	ENSP00000438875:S154Y;ENSP00000267422:S32Y;ENSP00000408914:S113Y;ENSP00000449113:S32Y;ENSP00000449185:S117Y;ENSP00000342387:S154Y;ENSP00000448157:S154Y	ENSP00000267422:S32Y	S	-	2	0	NOVA1	26011424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.757000	0.62213	1.539000	0.49286	0.650000	0.86243	TCC		0.388	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
SLC24A4	123041	hgsc.bcm.edu	37	14	92949084	92949084	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr14:92949084T>C	ENST00000532405.1	+	13	1542	c.1316T>C	c.(1315-1317)gTc>gCc	p.V439A	SLC24A4_ENST00000531433.1_Missense_Mutation_p.V420A|SLC24A4_ENST00000393265.2_Missense_Mutation_p.V375A|SLC24A4_ENST00000298877.1_Missense_Mutation_p.V422A|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V403A			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	439					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V422D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTCCTGTGCGTCACCATTCCC	0.587																																					NSCLC(10;315 435 10383 28450 38798)												1	Substitution - Missense(1)	ovary(1)	14											129.0	108.0	115.0					14																	92949084		2203	4300	6503	92018837	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1316T>C	14.37:g.92949084T>C	ENSP00000431840:p.Val439Ala		92018837	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591704	0.46214	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	T;T;T;T;T	0.67865	-0.28;0.13;0.14;-0.28;-0.29	5.74	4.59	0.56863	.	0.363088	0.33732	N	0.004619	T	0.53690	0.1812	L	0.41710	1.295	0.25217	N	0.989932	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.16722	0.016;0.016;0.004	T	0.44513	-0.9323	10	0.35671	T	0.21	.	6.7164	0.23306	0.0:0.1383:0.1302:0.7315	.	420;375;439	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	A	375;420;439;422;403;291	ENSP00000376948:V375A;ENSP00000433302:V420A;ENSP00000431840:V439A;ENSP00000298877:V422A;ENSP00000337789:V403A	ENSP00000298877:V422A	V	+	2	0	SLC24A4	92018837	0.999000	0.42202	0.793000	0.32043	0.910000	0.53928	4.003000	0.57061	1.002000	0.39104	0.459000	0.35465	GTC		0.587	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102476614	102476614	+	Splice_Site	SNP	C	C	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr14:102476614C>G	ENST00000360184.4	+	31	6387	c.6223C>G	c.(6223-6225)Cta>Gta	p.L2075V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2075	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTTTCTAGACTATGCGATGA	0.403																																																	0			14											61.0	65.0	63.0					14																	102476614		2203	4300	6503	101546367	SO:0001630	splice_region_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6222-1C>G	14.37:g.102476614C>G			101546367	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881227	0.51801	.	.	ENSG00000197102	ENST00000360184	T	0.14766	2.48	5.61	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53995	-0.8359	10	0.87932	D	0	.	8.4994	0.33148	0.0:0.7103:0.0:0.2897	.	2075	Q14204	DYHC1_HUMAN	V	2075	ENSP00000348965:L2075V	ENSP00000348965:L2075V	L	+	1	2	DYNC1H1	101546367	0.998000	0.40836	0.150000	0.22450	0.727000	0.41649	2.193000	0.42658	0.756000	0.33013	0.650000	0.86243	CTA		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Missense_Mutation
ZNF426	79088	hgsc.bcm.edu	37	19	9641741	9641741	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:9641741A>G	ENST00000535489.1	-	5	664	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R	ZNF426_ENST00000589289.1_Intron|ZNF426_ENST00000593003.1_Missense_Mutation_p.W72R|ZNF426_ENST00000253115.2_Missense_Mutation_p.W110R			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	110	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)	p.W110R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						CGCATTTCCCATCCTGAAATA	0.443																																																	1	Substitution - Missense(1)	ovary(1)	19											96.0	90.0	92.0					19																	9641741		2203	4300	6503	9502741	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.328T>C	19.37:g.9641741A>G	ENSP00000439017:p.Trp110Arg		9502741	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	A	9.959	1.222209	0.22457	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.07021	3.23;3.23	1.53	1.53	0.23141	Krueppel-associated box (1);	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.18873	N	0.999986	D;D	0.55605	0.972;0.972	P;P	0.59643	0.861;0.861	T	0.37407	-0.9707	9	0.21540	T	0.41	.	5.172	0.15114	1.0:0.0:0.0:0.0	.	97;110	Q59EH4;Q9BUY5	.;ZN426_HUMAN	R	97;110;110	ENSP00000253115:W110R;ENSP00000439017:W110R	ENSP00000253115:W110R	W	-	1	0	ZNF426	9502741	0.019000	0.18553	0.024000	0.17045	0.459000	0.32528	2.240000	0.43088	0.945000	0.37605	0.377000	0.23210	TGG		0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
ZNF564	163050	hgsc.bcm.edu	37	19	12638452	12638452	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:12638452C>T	ENST00000339282.7	-	4	666	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCATGTCTTCGAAAGGATTG	0.423																																																	0			19											104.0	110.0	108.0					19																	12638452		2199	4299	6498	12499452	SO:0001583	missense	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.470G>A	19.37:g.12638452C>T	ENSP00000340004:p.Arg157Gln		12499452	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	5.842	0.339547	0.11069	.	.	ENSG00000249709	ENST00000339282	T	0.04275	3.66	1.71	-2.31	0.06765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.20483	0.58	0.09310	N	0.999998	B	0.19935	0.04	B	0.24155	0.051	T	0.49390	-0.8945	9	0.10111	T	0.7	.	8.0541	0.30596	0.0:0.2441:0.0:0.7559	.	157	Q8TBZ8	ZN564_HUMAN	Q	157	ENSP00000340004:R157Q	ENSP00000340004:R157Q	R	-	2	0	ZNF564	12499452	0.002000	0.14202	0.001000	0.08648	0.958000	0.62258	0.040000	0.13905	-0.568000	0.06038	0.643000	0.83706	CGA		0.423	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
AP1M1	8907	hgsc.bcm.edu	37	19	16338426	16338426	+	Silent	SNP	C	C	T	rs142555840		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:16338426C>T	ENST00000291439.3	+	7	1190	c.741C>T	c.(739-741)ttC>ttT	p.F247F	AP1M1_ENST00000429941.2_Silent_p.F247F|AP1M1_ENST00000541844.1_Silent_p.F175F|AP1M1_ENST00000590756.1_Silent_p.F175F|AP1M1_ENST00000444449.2_Silent_p.F259F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	247	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TATCACGCTTCGAGAATGACC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20242	0.0		0.001	False		,,,				2504	0.0																0			19						C	,	0,4406		0,0,2203	280.0	227.0	245.0		777,741	-3.6	0.8	19	dbSNP_134	245	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AP1M1	NM_001130524.1,NM_032493.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	259/436,247/424	16338426	1,13005	2203	4300	6503	16199426	SO:0001819	synonymous_variant	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.741C>T	19.37:g.16338426C>T			16199426	Q4TTY5	Silent	SNP	ENST00000291439.3	37	CCDS12342.1																																																																																				0.607	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	
ZNF43	7594	hgsc.bcm.edu	37	19	21990501	21990501	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:21990501G>A	ENST00000354959.4	-	4	2507	c.2338C>T	c.(2338-2340)Cat>Tat	p.H780Y	ZNF43_ENST00000598381.1_Missense_Mutation_p.H774Y|ZNF43_ENST00000594012.1_Missense_Mutation_p.H774Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H774Y	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	780					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTTGTTATGTGTAGTAAGG	0.318																																																	0			19											61.0	62.0	62.0					19																	21990501		2203	4300	6503	21782341	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2338C>T	19.37:g.21990501G>A	ENSP00000347045:p.His780Tyr		21782341	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227793	0.58668	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.59772	0.24	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75413	0.3846	M	0.84846	2.72	0.23855	N	0.996651	D	0.89917	1.0	D	0.72625	0.978	T	0.63010	-0.6732	9	0.87932	D	0	.	10.4707	0.44635	0.0:0.0:1.0:0.0	.	780	P17038	ZNF43_HUMAN	Y	779;780	ENSP00000347045:H780Y	ENSP00000347045:H780Y	H	-	1	0	ZNF43	21782341	1.000000	0.71417	0.004000	0.12327	0.890000	0.51754	4.867000	0.63013	0.976000	0.38417	0.305000	0.20034	CAT		0.318	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF257	113835	hgsc.bcm.edu	37	19	22270820	22270820	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:22270820G>C	ENST00000594947.1	+	4	412	c.268G>C	c.(268-270)Gac>Cac	p.D90H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCCAGAGCGAGACATAAAATA	0.313																																																	0			19											54.0	56.0	55.0					19																	22270820		1971	4189	6160	22062660	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.268G>C	19.37:g.22270820G>C	ENSP00000470209:p.Asp90His		22062660	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	1.451	-0.564890	0.03939	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.1	1.1	0.20463	.	.	.	.	.	T	0.32675	0.0837	L	0.52364	1.645	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.29058	-1.0024	8	0.48119	T	0.1	.	4.3207	0.11016	0.0:0.0:0.6118:0.3882	.	90	Q9Y2Q1	ZN257_HUMAN	H	90	.	ENSP00000380312:D90H	D	+	1	0	ZNF257	22062660	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.063000	0.11655	0.512000	0.28257	0.305000	0.20034	GAC		0.313	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
PDCD5	9141	hgsc.bcm.edu	37	19	33076809	33076809	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:33076809A>G	ENST00000590247.2	+	4	448	c.254A>G	c.(253-255)gAg>gGg	p.E85G	PDCD5_ENST00000586035.1_Missense_Mutation_p.E47G|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.E85G	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	85					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CAACTAAGTGAGAAGGTAAGC	0.363																																																	0			19											103.0	108.0	106.0					19																	33076809		2203	4300	6503	37768649	SO:0001583	missense	9141			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.254A>G	19.37:g.33076809A>G	ENSP00000466214:p.Glu85Gly		37768649	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205798	0.09704	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	4.57	0.56435	.	0.148836	0.64402	N	0.000011	T	0.15262	0.0368	N	0.00690	-1.25	0.37085	D	0.899182	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.004	T	0.29058	-1.0024	9	0.02654	T	1	-14.8081	12.4858	0.55872	0.083:0.0:0.917:0.0	.	85;85	O14737;B4DE64	PDCD5_HUMAN;.	G	85	.	ENSP00000221784:E85G	E	+	2	0	PDCD5	37768649	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.533000	0.73829	1.325000	0.45301	-0.468000	0.05107	GAG		0.363	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708	
GGN	199720	hgsc.bcm.edu	37	19	38877875	38877875	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:38877875G>A	ENST00000334928.6	-	3	159	c.27C>T	c.(25-27)tcC>tcT	p.S9S	SPRED3_ENST00000587013.1_5'Flank|SPRED3_ENST00000586301.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000338502.4_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	9					cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCGCCCGCGGATGGCTCCG	0.667																																																	0			19											5.0	6.0	5.0					19																	38877875		2059	4057	6116	43569715	SO:0001819	synonymous_variant	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.27C>T	19.37:g.38877875G>A			43569715	Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	CCDS12516.1																																																																																				0.667	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
ZNF546	339327	hgsc.bcm.edu	37	19	40504277	40504277	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:40504277T>C	ENST00000347077.4	+	3	260	c.44T>C	c.(43-45)cTc>cCc	p.L15P	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	15			L -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AATGACTTTCTCATTTTTCAA	0.408																																																	0			19											99.0	96.0	97.0					19																	40504277		2203	4300	6503	45196117	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.44T>C	19.37:g.40504277T>C	ENSP00000339823:p.Leu15Pro		45196117	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	t	10.96	1.499748	0.26861	.	.	ENSG00000187187	ENST00000347077	T	0.08458	3.09	1.66	1.66	0.24008	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999998	D	0.59357	0.985	P	0.45639	0.488	T	0.34850	-0.9812	9	0.66056	D	0.02	.	5.414	0.16363	0.0:0.0:0.0:1.0	.	15	Q86UE3	ZN546_HUMAN	P	15	ENSP00000339823:L15P	ENSP00000339823:L15P	L	+	2	0	ZNF546	45196117	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.005000	0.13129	1.033000	0.39918	0.528000	0.53228	CTC		0.408	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF229	7772	hgsc.bcm.edu	37	19	44934175	44934175	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:44934175C>T	ENST00000588931.1	-	6	1214	c.781G>A	c.(781-783)Gga>Aga	p.G261R	ZNF229_ENST00000291187.4_Missense_Mutation_p.G255R|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	261					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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCATTCTCTCCAGGGTTAATG	0.428																																																	0			19											102.0	95.0	98.0					19																	44934175		1908	4108	6016	49626015	SO:0001583	missense	7772			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.781G>A	19.37:g.44934175C>T	ENSP00000466519:p.Gly261Arg		49626015	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457632	0.26161	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.35	-0.334	0.12666	.	.	.	.	.	T	0.25082	0.0609	N	0.24115	0.695	0.09310	N	1	B	0.20368	0.044	B	0.17722	0.019	T	0.18366	-1.0339	8	0.49607	T	0.09	.	4.955	0.14035	0.0:0.6043:0.1714:0.2243	.	261	Q9UJW7	ZN229_HUMAN	R	261	.	ENSP00000291187:G261R	G	-	1	0	ZNF229	49626015	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	0.175000	0.16762	-0.390000	0.07774	0.609000	0.83330	GGA		0.428	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
RTN2	6253	hgsc.bcm.edu	37	19	45998253	45998253	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:45998253G>A	ENST00000245923.4	-	3	325	c.90C>T	c.(88-90)gaC>gaT	p.D30D	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_De_novo_Start_OutOfFrame|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000344680.4_Silent_p.D30D|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	30					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AATCAGAGTCGTCGTTCCCTC	0.627																																																	0			19											74.0	71.0	72.0					19																	45998253		2203	4300	6503	50690093	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.90C>T	19.37:g.45998253G>A			50690093	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	CCDS12665.1																																																																																				0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619	
PNMAL2	57469	hgsc.bcm.edu	37	19	46997356	46997356	+	Intron	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:46997356G>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A456D			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GTCCTGGGCAGCCAGGAGCGC	0.627																																																	0			19											61.0	70.0	67.0					19																	46997356		1973	4148	6121	51689196	SO:0001627	intron_variant	57469			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+632C>A	19.37:g.46997356G>T			51689196	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																					0.627	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
LILRB3	11025	hgsc.bcm.edu	37	19	54720983	54720983	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:54720983G>A	ENST00000391750.1	-	14	2011	c.1875C>T	c.(1873-1875)taC>taT	p.Y625Y	LILRA6_ENST00000270464.5_Silent_p.Y626Y|LILRB3_ENST00000346401.6_Silent_p.Y637Y|LILRA6_ENST00000419410.2_Silent_p.Y626Y|LILRB3_ENST00000407860.2_Silent_p.Y642Y|LILRA6_ENST00000440558.2_Silent_p.Y625Y|LILRB3_ENST00000424807.1_Silent_p.Y625Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000245620.9_Silent_p.Y626Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	625					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGAGTGGCGTAGATGCTGG	0.627																																																	0			19											102.0	95.0	97.0					19																	54720983		2203	4300	6503	59412795	SO:0001819	synonymous_variant	79168			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1875C>T	19.37:g.54720983G>A			59412795	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.627	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
ZNF550	162972	hgsc.bcm.edu	37	19	58058834	58058834	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr19:58058834T>A	ENST00000457177.1	-	4	958	c.778A>T	c.(778-780)Aag>Tag	p.K260*	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000325134.5_Nonsense_Mutation_p.K228*|ZNF550_ENST00000506609.2_Nonsense_Mutation_p.K219*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAAGGCACTTGTATGGTTTC	0.502																																																	0			19											124.0	91.0	102.0					19																	58058834		2203	4300	6503	62750646	SO:0001587	stop_gained	162972			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.778A>T	19.37:g.58058834T>A	ENSP00000469679:p.Lys260*		62750646	B3KVF6|O43337|Q7Z6D7|Q8NE45	Nonsense_Mutation	SNP	ENST00000457177.1	37		.	.	.	.	.	.	.	.	.	.	T	16.69	3.194529	0.58017	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	.	.	.	3.5	-4.73	0.03259	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.4295	0.04468	0.1308:0.2794:0.3988:0.191	.	.	.	.	X	260;228;219	.	ENSP00000446224:K228X	K	-	1	0	AC003682.1	62750646	0.000000	0.05858	0.001000	0.08648	0.947000	0.59692	-2.794000	0.00765	-1.099000	0.03034	0.533000	0.62120	AAG		0.502	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231	
RP1L1	94137	hgsc.bcm.edu	37	8	10469327	10469327	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:10469327C>T	ENST00000382483.3	-	4	2504	c.2281G>A	c.(2281-2283)Ggg>Agg	p.G761R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	761					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGCCCACCCGGCAGAGGGA	0.647																																																	0			8											45.0	52.0	50.0					8																	10469327		1965	4148	6113	10506737	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2281G>A	8.37:g.10469327C>T	ENSP00000371923:p.Gly761Arg		10506737	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323356	0.10900	.	.	ENSG00000183638	ENST00000382483	T	0.03772	3.81	5.11	3.19	0.36642	.	0.465537	0.15977	N	0.235503	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.30709	0.291	B	0.24701	0.055	T	0.41998	-0.9477	10	0.52906	T	0.07	-12.5422	6.3253	0.21240	0.0:0.7137:0.1862:0.1	.	761	A6NKC6	.	R	761	ENSP00000371923:G761R	ENSP00000371923:G761R	G	-	1	0	RP1L1	10506737	0.007000	0.16637	0.017000	0.16124	0.011000	0.07611	1.395000	0.34520	1.139000	0.42245	0.462000	0.41574	GGG		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
DLC1	10395	hgsc.bcm.edu	37	8	12957788	12957788	+	Silent	SNP	C	C	T	rs372344109		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:12957788C>T	ENST00000276297.4	-	9	2467	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_ENST00000512044.2_Silent_p.A283A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000358919.2_Silent_p.A249A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	686					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTTTGAGGGCGCTTTGTGCT	0.557																																																	0			8						C	,,	1,4405	2.1+/-5.4	0,1,2202	99.0	93.0	95.0		525,747,2058	-5.9	0.2	8		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	175/1018,249/1092,686/1529	12957788	2,13004	2203	4300	6503	13002159	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2058G>A	8.37:g.12957788C>T			13002159	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
NSMAF	8439	hgsc.bcm.edu	37	8	59500199	59500199	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:59500199G>A	ENST00000038176.3	-	27	2485	c.2273C>T	c.(2272-2274)gCc>gTc	p.A758V	NSMAF_ENST00000427130.2_Missense_Mutation_p.A789V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	758					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCCAGCTCGGCCAGCAAGTC	0.453																																																	0			8											102.0	88.0	93.0					8																	59500199		2203	4300	6503	59662753	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2273C>T	8.37:g.59500199G>A	ENSP00000038176:p.Ala758Val		59662753	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488942	0.96323	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.30448	1.53;1.53	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	M	0.71581	2.175	0.58432	D	0.999997	D;P	0.67145	0.996;0.5	D;B	0.64321	0.924;0.11	T	0.49133	-0.8971	9	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	789;758	Q92636-2;Q92636	.;FAN_HUMAN	V	758;789	ENSP00000038176:A758V;ENSP00000411012:A789V	.	A	-	2	0	NSMAF	59662753	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	7.072000	0.76777	2.828000	0.97474	0.655000	0.94253	GCC		0.453	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
CLVS1	157807	hgsc.bcm.edu	37	8	62370922	62370922	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:62370922T>G	ENST00000519846.1	+	6	1270	c.798T>G	c.(796-798)ttT>ttG	p.F266L	CLVS1_ENST00000325897.4_Missense_Mutation_p.F266L|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	266	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACCCTGAATTTTTGCCCTCTG	0.408																																																	0			8											128.0	121.0	123.0					8																	62370922		2203	4300	6503	62533476	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.798T>G	8.37:g.62370922T>G	ENSP00000428402:p.Phe266Leu		62533476	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.139401	0.56936	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.74526	-0.85;-0.85	5.43	2.97	0.34412	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.199783	0.52532	D	0.000078	T	0.45175	0.1329	N	0.02802	-0.49	0.27951	N	0.937135	B	0.06786	0.001	B	0.12156	0.007	T	0.29912	-0.9996	10	0.24483	T	0.36	-12.882	6.4378	0.21833	0.0:0.2656:0.0:0.7344	.	266	Q8IUQ0	CLVS1_HUMAN	L	266	ENSP00000428402:F266L;ENSP00000325506:F266L	ENSP00000325506:F266L	F	+	3	2	CLVS1	62533476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.310000	0.33551	1.028000	0.39785	0.528000	0.53228	TTT		0.408	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519	
CNBD1	168975	hgsc.bcm.edu	37	8	88298882	88298882	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:88298882A>G	ENST00000518476.1	+	8	1076	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	342										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAATGGAAAAAATTTCCTCCA	0.289																																																	0			8											51.0	47.0	48.0					8																	88298882		1713	3793	5506	88367998	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1025A>G	8.37:g.88298882A>G	ENSP00000430073:p.Lys342Arg		88367998		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.883|8.883	0.952064|0.952064	0.18431|0.18431	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299	D|.	0.92348|.	-3.02|.	5.49|5.49	1.62|1.62	0.23740|0.23740	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.414174|.	0.20817|.	N|.	0.085132|.	T|T	0.34395|0.34395	0.0896|0.0896	L|L	0.47716|0.47716	1.5|1.5	0.20403|0.20403	N|N	0.999904|0.999904	P|.	0.44429|.	0.835|.	B|.	0.37091|.	0.241|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.22109|.	T|.	0.4|.	-9.8488|-9.8488	2.7241|2.7241	0.05209|0.05209	0.6168:0.1526:0.0837:0.1469|0.6168:0.1526:0.0837:0.1469	.|.	342|.	Q8NA66|.	CNBD1_HUMAN|.	R|D	342|34	ENSP00000430073:K342R|.	ENSP00000430073:K342R|.	K|N	+|+	2|1	0|0	CNBD1|CNBD1	88367998|88367998	0.893000|0.893000	0.30496|0.30496	0.915000|0.915000	0.36163|0.36163	0.994000|0.994000	0.84299|0.84299	0.570000|0.570000	0.23653|0.23653	0.412000|0.412000	0.25729|0.25729	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
POP1	10940	hgsc.bcm.edu	37	8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	rs148502433		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0																0			8						G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	74.0	74.0		722,722,722	-1.7	0.0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	99211617	SO:0001583	missense	260434			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.722G>A	8.37:g.99142441G>A	ENSP00000385787:p.Arg241Gln		99211617	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	POP1	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
VPS13B	157680	hgsc.bcm.edu	37	8	100454775	100454775	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr8:100454775T>C	ENST00000358544.2	+	23	3468	c.3357T>C	c.(3355-3357)ccT>ccC	p.P1119P	VPS13B_ENST00000357162.2_Silent_p.P1119P|VPS13B_ENST00000395996.1_Silent_p.P1119P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1119					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTGTTTGCCTCAAATAAAGA	0.438																																					Colon(161;2205 2542 7338 31318)												0			8											121.0	113.0	116.0					8																	100454775		2203	4300	6503	100523951	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3357T>C	8.37:g.100454775T>C			100523951	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
ATAD3B	83858	hgsc.bcm.edu	37	1	1412699	1412699	+	Missense_Mutation	SNP	C	C	T	rs144497634		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:1412699C>T	ENST00000308647.7	+	2	367	c.251C>T	c.(250-252)aCg>aTg	p.T84M	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	84						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)		CAGGAGCAGACGCTGCAGTTG	0.632																																																	0			1						C	MET/THR	0,4406		0,0,2203	48.0	46.0	47.0		251	2.9	1.0	1	dbSNP_134	47	1,8589		0,1,4294	no	missense	ATAD3B	NM_031921.4	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	84/649	1412699	1,12995	2203	4295	6498	1402562	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.251C>T	1.37:g.1412699C>T	ENSP00000311766:p.Thr84Met		1402562	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.831351	0.50845	0.0	1.16E-4	ENSG00000160072	ENST00000360489;ENST00000308647	T	0.11385	2.78	2.9	2.9	0.33743	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.111372	0.64402	D	0.000011	T	0.40196	0.1107	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55711	-0.8098	10	0.87932	D	0	.	12.9335	0.58301	0.0:1.0:0.0:0.0	.	84	Q5T9A4	ATD3B_HUMAN	M	84	ENSP00000311766:T84M	ENSP00000311766:T84M	T	+	2	0	ATAD3B	1402562	1.000000	0.71417	0.993000	0.49108	0.261000	0.26267	6.326000	0.72905	1.460000	0.47911	0.306000	0.20318	ACG		0.632	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
TMEM234	56063	hgsc.bcm.edu	37	1	32688149	32688149	+	5'Flank	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:32688149T>C	ENST00000344461.3	-	0	0				TMEM234_ENST00000309777.6_5'Flank|TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000373586.1_Missense_Mutation_p.L5P|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000373593.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						AAGCCGATCCTACTGCAGGGC	0.562																																																	0			1											77.0	78.0	78.0					1																	32688149		2203	4300	6503	32460736	SO:0001631	upstream_gene_variant	8668			AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688149T>C	Exception_encountered		32460736	B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37		.	.	.	.	.	.	.	.	.	.	T	24.6	4.554261	0.86231	.	.	ENSG00000084623	ENST00000355082;ENST00000373586	D;D	0.81739	-1.53;-1.53	4.1	4.1	0.47936	.	0.157358	0.43919	D	0.000514	D	0.89584	0.6757	M	0.87900	2.915	0.80722	D	1	D	0.59767	0.986	D	0.65573	0.936	D	0.91429	0.5164	10	0.72032	D	0.01	-9.9483	13.5493	0.61723	0.0:0.0:0.0:1.0	.	5	Q13347	EIF3I_HUMAN	P	5	ENSP00000347194:L5P;ENSP00000362688:L5P	ENSP00000347194:L5P	L	+	2	0	EIF3I	32460736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.641000	0.67881	1.854000	0.53819	0.455000	0.32223	CTA		0.562	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118	
IFI44	10561	hgsc.bcm.edu	37	1	79116110	79116110	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:79116110T>C	ENST00000370747.4	+	2	315	c.230T>C	c.(229-231)aTc>aCc	p.I77T	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	77					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATGCTTCCATCATCCTTTTT	0.353																																																	0			1											132.0	134.0	133.0					1																	79116110		2203	4300	6503	78888698	SO:0001583	missense	10561			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.230T>C	1.37:g.79116110T>C	ENSP00000359783:p.Ile77Thr		78888698	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	CCDS688.1	.	.	.	.	.	.	.	.	.	.	T	0.068	-1.209314	0.01568	.	.	ENSG00000137965	ENST00000370747	T	0.37058	1.22	3.03	-1.01	0.10169	TLDc (1);	0.948341	0.08700	N	0.906574	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.14578	0.011;0.011	T	0.36553	-0.9743	10	0.15499	T	0.54	4.0E-4	2.3652	0.04317	0.2147:0.2611:0.0:0.5242	.	77;77	B7ZB11;Q8TCB0	.;IFI44_HUMAN	T	77	ENSP00000359783:I77T	ENSP00000359783:I77T	I	+	2	0	IFI44	78888698	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.317000	0.19487	-0.220000	0.09988	-0.467000	0.05162	ATC		0.353	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417	
COL24A1	255631	hgsc.bcm.edu	37	1	86203133	86203133	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:86203133G>C	ENST00000370571.2	-	58	5094	c.4728C>G	c.(4726-4728)ttC>ttG	p.F1576L	COL24A1_ENST00000436319.1_Missense_Mutation_p.F1555L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1576	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGAAATTGCAGAAAACCTCAA	0.353																																																	0			1											71.0	69.0	70.0					1																	86203133		1890	4109	5999	85975721	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4728C>G	1.37:g.86203133G>C	ENSP00000359603:p.Phe1576Leu		85975721	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209946	0.39003	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.74106	-0.81;-0.81	4.68	2.82	0.32997	Fibrillar collagen, C-terminal (3);	0.000000	0.38058	N	0.001827	T	0.69260	0.3091	M	0.82517	2.595	0.52099	D	0.999947	P;B	0.37548	0.599;0.39	P;B	0.45167	0.472;0.341	T	0.68123	-0.5492	10	0.34782	T	0.22	.	10.3121	0.43714	0.1582:0.0:0.8418:0.0	.	1576;1555	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	L	1576;1555	ENSP00000359603:F1576L;ENSP00000392531:F1555L	ENSP00000359603:F1576L	F	-	3	2	COL24A1	85975721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.542000	0.60677	0.587000	0.29643	0.563000	0.77884	TTC		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
DPYD	1806	hgsc.bcm.edu	37	1	97658647	97658647	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:97658647C>A	ENST00000370192.3	-	20	2700	c.2600G>T	c.(2599-2601)cGt>cTt	p.R867L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	867					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCAGCTATACGTGGAACTGG	0.423																																																	0			1											199.0	172.0	181.0					1																	97658647		2203	4300	6503	97431235	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2600G>T	1.37:g.97658647C>A	ENSP00000359211:p.Arg867Leu		97431235	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.891962	0.00522	.	.	ENSG00000188641	ENST00000370192	D	0.89552	-2.53	5.81	-4.47	0.03525	.	0.923471	0.09453	N	0.800145	T	0.51466	0.1676	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.49679	-0.8914	10	0.11182	T	0.66	0.1887	7.0875	0.25266	0.0:0.358:0.1962:0.4458	.	867	Q12882	DPYD_HUMAN	L	867	ENSP00000359211:R867L	ENSP00000359211:R867L	R	-	2	0	DPYD	97431235	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.800000	0.00761	-1.000000	0.03438	-0.759000	0.03464	CGT		0.423	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
KCND3	3752	hgsc.bcm.edu	37	1	112525069	112525069	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:112525069C>T	ENST00000315987.2	-	2	759	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	KCND3_ENST00000369697.1_Missense_Mutation_p.V94M|KCND3_ENST00000302127.4_Missense_Mutation_p.V94M	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	94			V -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V94M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAGTTGAGCACGCAGCGGAAC	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)	1											121.0	108.0	112.0					1																	112525069		2203	4300	6503	112326592	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.280G>A	1.37:g.112525069C>T	ENSP00000319591:p.Val94Met		112326592	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932725	0.52866	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.53423	0.62;0.62;0.62	5.74	5.74	0.90152	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.170734	0.52532	D	0.000073	T	0.52885	0.1762	M	0.81942	2.565	0.48236	D	0.999619	D;D	0.61697	0.966;0.99	P;P	0.56648	0.679;0.803	T	0.62982	-0.6738	10	0.87932	D	0	.	7.9086	0.29776	0.0:0.8064:0.0:0.1936	.	94;94	Q14D71;Q9UK17	.;KCND3_HUMAN	M	94	ENSP00000358711:V94M;ENSP00000319591:V94M;ENSP00000306923:V94M	ENSP00000306923:V94M	V	-	1	0	KCND3	112326592	0.961000	0.32948	0.996000	0.52242	0.997000	0.91878	2.002000	0.40835	2.717000	0.92951	0.655000	0.94253	GTG		0.612	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
NRAS	4893	hgsc.bcm.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	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.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|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)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	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"""	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206.0	184.0	191.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1.0	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	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.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp		115060270	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	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	
HRNR	388697	hgsc.bcm.edu	37	1	152192776	152192776	+	Silent	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:152192776C>A	ENST00000368801.2	-	3	1404	c.1329G>T	c.(1327-1329)ggG>ggT	p.G443G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	443					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGTCCCATGTTGGC	0.607																																																	0			1											109.0	112.0	111.0					1																	152192776		2203	4300	6503	150459400	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1329G>T	1.37:g.152192776C>A			150459400	Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	hgsc.bcm.edu	37	1	152280792	152280792	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:152280792G>T	ENST00000368799.1	-	3	6605	c.6570C>A	c.(6568-6570)agC>agA	p.S2190R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2190	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTTTTCTGCTTGCACTTC	0.537									Ichthyosis																																								0			1											474.0	401.0	425.0					1																	152280792		2203	4300	6503	150547416	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6570C>A	1.37:g.152280792G>T	ENSP00000357789:p.Ser2190Arg		150547416	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.258	0.046981	0.08243	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.26	-3.39	0.04868	.	.	.	.	.	T	0.00608	0.0020	M	0.73962	2.25	0.09310	N	1	B	0.20164	0.042	B	0.11329	0.006	T	0.48479	-0.9032	9	0.15952	T	0.53	.	0.4443	0.00491	0.1797:0.2026:0.3058:0.3119	.	2190	P20930	FILA_HUMAN	R	2190	ENSP00000357789:S2190R	ENSP00000357789:S2190R	S	-	3	2	FLG	150547416	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.870000	0.01641	-0.230000	0.09840	0.485000	0.47835	AGC		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
S100A7A	338324	hgsc.bcm.edu	37	1	153391729	153391729	+	Missense_Mutation	SNP	G	G	A	rs3006414	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:153391729G>A	ENST00000368729.4	+	3	307	c.250G>A	c.(250-252)Gca>Aca	p.A84T	S100A7A_ENST00000329256.2_Missense_Mutation_p.A84T|S100A7A_ENST00000368728.2_Missense_Mutation_p.A84T	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		A -> T (in dbSNP:rs3006414).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.A84T(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACATAGCCGCAGACTACCA	0.527													a|||	1047	0.209065	0.4766	0.1686	5008	,	,		16030	0.1379		0.0835	False		,,,				2504	0.0787																1	Substitution - Missense(1)	stomach(1)	1						A	THR/ALA	1893,2513		408,1077,718	81.0	76.0	78.0		250	-2.9	0.0	1	dbSNP_101	78	765,7835		32,701,3567	no	missense	S100A7A	NM_176823.3	58	440,1778,4285	AA,AG,GG		8.8953,42.9641,20.4367	benign	84/102	153391729	2658,10348	2203	4300	6503	151658353	SO:0001583	missense	338324			AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.250G>A	1.37:g.153391729G>A	ENSP00000357718:p.Ala84Thr		151658353	D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	CCDS30872.1	436	0.19963369963369965	229	0.4654471544715447	55	0.15193370165745856	85	0.1486013986013986	67	0.08839050131926121	.	0.009	-1.820264	0.00595	0.429641	0.088953	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.06142	3.34;3.34;3.34	1.7	-2.9	0.05648	EF-hand-like domain (1);	.	.	.	.	T	0.00328	0.0010	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	8	0.09843	T	0.71	.	3.6925	0.08351	0.2976:0.0:0.4869:0.2155	rs3006414;rs57686181;rs3006414	84	Q86SG5	S1A7A_HUMAN	T	84	ENSP00000357718:A84T;ENSP00000357717:A84T;ENSP00000329008:A84T	ENSP00000329008:A84T	A	+	1	0	S100A7A	151658353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.964000	0.01512	-1.503000	0.01812	-2.435000	0.00213	GCA		0.527	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	
UBAP2L	9898	hgsc.bcm.edu	37	1	154218736	154218736	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:154218736C>G	ENST00000361546.2	+	10	941	c.899C>G	c.(898-900)tCt>tGt	p.S300C	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S311C|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S300C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S300C			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	300					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATGATTCATCTAATCTGGAT	0.478																																																	0			1											131.0	122.0	125.0					1																	154218736		2203	4300	6503	152485360	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.899C>G	1.37:g.154218736C>G	ENSP00000355343:p.Ser300Cys		152485360	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863738	0.91511	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000368504;ENST00000361546	T;T;T;T;T	0.48201	2.63;2.63;2.63;0.82;2.63	5.19	5.19	0.71726	.	0.238623	0.43579	D	0.000548	T	0.45337	0.1337	N	0.22421	0.69	0.50632	D	0.999882	P;D;P;P;B	0.71674	0.679;0.998;0.545;0.545;0.214	B;P;B;B;B	0.61328	0.174;0.887;0.326;0.326;0.241	T	0.49254	-0.8959	10	0.62326	D	0.03	-6.0519	17.8947	0.88883	0.0:1.0:0.0:0.0	.	214;311;293;300;300	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	C	300;300;311;311;300	ENSP00000345308:S300C;ENSP00000389445:S300C;ENSP00000271877:S311C;ENSP00000357490:S311C;ENSP00000355343:S300C	ENSP00000271877:S311C	S	+	2	0	UBAP2L	152485360	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	5.627000	0.67784	2.705000	0.92388	0.655000	0.94253	TCT		0.478	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
ABL2	27	hgsc.bcm.edu	37	1	179084017	179084017	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:179084017T>C	ENST00000502732.1	-	9	1760	c.1557A>G	c.(1555-1557)agA>agG	p.R519R	ABL2_ENST00000507173.1_Silent_p.R498R|ABL2_ENST00000344730.3_Silent_p.R504R|ABL2_ENST00000408940.3_Silent_p.R483R|ABL2_ENST00000392043.3_Silent_p.R498R|ABL2_ENST00000512653.1_Silent_p.R504R|ABL2_ENST00000511413.1_Silent_p.R519R|ABL2_ENST00000367623.4_Silent_p.R498R|ABL2_ENST00000504405.1_Silent_p.R483R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> I (somatic mutation in a lung squamous cell carcinoma). {ECO:0000269|PubMed:17344846}.		actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTCACATGCTCTCATAAGTT	0.383			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0			1											94.0	97.0	96.0					1																	179084017		2203	4300	6503	177350640	SO:0001819	synonymous_variant	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1557A>G	1.37:g.179084017T>C			177350640	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																				0.383	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
CRB1	23418	hgsc.bcm.edu	37	1	197396918	197396918	+	Silent	SNP	G	G	A	rs375269970		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:197396918G>A	ENST00000367400.3	+	7	2598	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	CRB1_ENST00000367399.2_Silent_p.T709T|CRB1_ENST00000367397.1_Silent_p.T202T|CRB1_ENST00000544212.1_Silent_p.T302T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.T752T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	821	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		T -> M. {ECO:0000269|PubMed:11389483}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGCTTCTACGTGGAAAATCG	0.373																																																	0			1						A	,	1,4405	824.2+/-416.5	0,1,2202	69.0	68.0	68.0		2127,2463	-9.9	0.1	1		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	709/1295,821/1407	197396918	1,13005	2203	4300	6503	195663541	SO:0001819	synonymous_variant	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2463G>A	1.37:g.197396918G>A			195663541	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.373	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
HIST3H2A	92815	hgsc.bcm.edu	37	1	228645230	228645230	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:228645230G>T	ENST00000366695.2	-	1	330	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	97					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CGGCCCAGCAGCTTGTTGAGC	0.662																																																	0			1											83.0	77.0	79.0					1																	228645230		2203	4299	6502	226711853	SO:0001583	missense	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.289C>A	1.37:g.228645230G>T	ENSP00000355656:p.Leu97Met		226711853	B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	15.77	2.930245	0.52866	.	.	ENSG00000181218	ENST00000366695	T	0.67345	-0.26	3.86	2.94	0.34122	Histone-fold (2);Histone H2A (1);	0.000000	0.37715	N	0.001972	T	0.74604	0.3738	M	0.85462	2.755	0.30368	N	0.78318	D	0.53745	0.962	P	0.51324	0.666	T	0.76302	-0.3009	10	0.87932	D	0	.	9.8636	0.41129	0.1034:0.0:0.8966:0.0	.	97	Q7L7L0	H2A3_HUMAN	M	97	ENSP00000355656:L97M	ENSP00000355656:L97M	L	-	1	2	HIST3H2A	226711853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.952000	0.63618	1.198000	0.43158	0.655000	0.94253	CTG		0.662	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445	
RYR2	6262	hgsc.bcm.edu	37	1	237656264	237656264	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:237656264T>C	ENST00000366574.2	+	19	2155	c.1838T>C	c.(1837-1839)gTc>gCc	p.V613A	RYR2_ENST00000542537.1_Missense_Mutation_p.V597A|RYR2_ENST00000360064.6_Missense_Mutation_p.V611A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	613	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCTGGATGTCTTGTGCTCA	0.507																																																	0			1											144.0	156.0	152.0					1																	237656264		1993	4165	6158	235722887	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1838T>C	1.37:g.237656264T>C	ENSP00000355533:p.Val613Ala		235722887	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.406025	0.42715	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96073	-3.9;-3.9;-3.9	6.06	6.06	0.98353	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000028	D	0.95478	0.8531	M	0.81497	2.545	0.80722	D	1	B	0.20164	0.042	B	0.25506	0.061	D	0.93119	0.6523	10	0.52906	T	0.07	.	16.6127	0.84892	0.0:0.0:0.0:1.0	.	613	Q92736	RYR2_HUMAN	A	613;611;597	ENSP00000355533:V613A;ENSP00000353174:V611A;ENSP00000443798:V597A	ENSP00000353174:V611A	V	+	2	0	RYR2	235722887	1.000000	0.71417	0.323000	0.25347	0.006000	0.05464	7.980000	0.88113	2.322000	0.78497	0.528000	0.53228	GTC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2M5	127059	hgsc.bcm.edu	37	1	248308552	248308552	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:248308552T>C	ENST00000366476.1	+	1	103	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F35I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTGGCCATCTTTTCAGTGGC	0.522																																																	1	Substitution - Missense(1)	ovary(1)	1											239.0	237.0	237.0					1																	248308552		2203	4296	6499	246375175	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.103T>C	1.37:g.248308552T>C	ENSP00000355432:p.Phe35Leu		246375175		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	10.24	1.295534	0.23564	.	.	ENSG00000162727	ENST00000366476	T	0.00581	6.42	3.28	3.28	0.37604	.	0.250947	0.20653	U	0.088177	T	0.01092	0.0036	M	0.81497	2.545	0.09310	N	1	P	0.41546	0.754	B	0.39119	0.291	T	0.37731	-0.9693	10	0.72032	D	0.01	.	11.5465	0.50696	0.0:0.0:0.0:1.0	.	35	A3KFT3	OR2M5_HUMAN	L	35	ENSP00000355432:F35L	ENSP00000355432:F35L	F	+	1	0	OR2M5	246375175	0.022000	0.18835	0.140000	0.22221	0.115000	0.19883	2.033000	0.41136	1.250000	0.43966	0.403000	0.27427	TTT		0.522	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
IFITM3	10410	hgsc.bcm.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.14_ENST00000602809.1_lincRNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																																	5	Substitution - coding silent(5)	endometrium(4)|central_nervous_system(1)	11											93.0	98.0	96.0					11																	320649		2062	4173	6235	310649	SO:0001819	synonymous_variant	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A			310649	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	CCDS41585.1																																																																																				0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
ZNF195	7748	hgsc.bcm.edu	37	11	3383053	3383053	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:3383053G>A	ENST00000399602.4	-	4	419	c.293C>T	c.(292-294)tCa>tTa	p.S98L	ZNF195_ENST00000429541.2_Intron|ZNF195_ENST00000343338.7_Intron|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_Intron|ZNF195_ENST00000354599.6_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.S98L|ZNF195_ENST00000526601.1_Missense_Mutation_p.S102L	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	98	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ttgggaggctgaggcaggcag	0.483																																																	0			11											148.0	137.0	141.0					11																	3383053		692	1591	2283	3339629	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.293C>T	11.37:g.3383053G>A	ENSP00000382511:p.Ser98Leu		3339629	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	g	8.719	0.914003	0.17907	.	.	ENSG00000005801	ENST00000399602;ENST00000005082;ENST00000526601;ENST00000533036;ENST00000534569	T;T;T;T;T	0.62105	4.55;4.55;4.55;0.05;4.55	0.225	0.225	0.15325	.	.	.	.	.	T	0.50854	0.1640	L	0.27975	0.815	0.25757	N	0.984995	P;B;B	0.37500	0.597;0.0;0.0	P;B;B	0.46110	0.504;0.0;0.0	T	0.43972	-0.9358	8	0.21540	T	0.41	.	.	.	.	.	102;98;98	O14628-6;O14628-5;O14628	.;.;ZN195_HUMAN	L	98;98;102;117;102	ENSP00000382511:S98L;ENSP00000005082:S98L;ENSP00000435828:S102L;ENSP00000433911:S117L;ENSP00000437265:S102L	ENSP00000005082:S98L	S	-	2	0	ZNF195	3339629	0.002000	0.14202	0.433000	0.26760	0.448000	0.32197	-0.203000	0.09438	0.300000	0.22699	0.305000	0.20034	TCA		0.483	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
OR5P2	120065	hgsc.bcm.edu	37	11	7818452	7818452	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:7818452G>A	ENST00000329434.2	-	1	68	c.38C>T	c.(37-39)aCg>aTg	p.T13M	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGAACCCCGTCAGAGCGGT	0.408																																																	0			11											55.0	63.0	60.0					11																	7818452		2098	4292	6390	7775028	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.38C>T	11.37:g.7818452G>A	ENSP00000331823:p.Thr13Met		7775028	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	8.471	0.857629	0.17178	.	.	ENSG00000183303	ENST00000329434	T	0.00502	6.95	5.5	3.62	0.41486	.	0.088468	0.49305	D	0.000142	T	0.01353	0.0044	M	0.75777	2.31	0.09310	N	1	D	0.71674	0.998	P	0.62885	0.908	T	0.33317	-0.9873	10	0.72032	D	0.01	-13.9801	10.7387	0.46141	0.0:0.1426:0.7091:0.1483	.	13	Q8WZ92	OR5P2_HUMAN	M	13	ENSP00000331823:T13M	ENSP00000331823:T13M	T	-	2	0	OR5P2	7775028	0.170000	0.23016	0.477000	0.27303	0.000000	0.00434	2.361000	0.44160	0.861000	0.35504	-0.314000	0.08810	ACG		0.408	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
OR8U1	219417	hgsc.bcm.edu	37	11	56143818	56143818	+	Missense_Mutation	SNP	C	C	T	rs541503390	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:56143818C>T	ENST00000302270.1	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCTTTCTCGACGTGTGGCTCT	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22121	0.0		0.0	False		,,,				2504	0.0																0			11											121.0	123.0	123.0					11																	56143818		2069	4244	6313	55900394	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.719C>T	11.37:g.56143818C>T	ENSP00000304188:p.Thr240Met		55900394		Missense_Mutation	SNP	ENST00000302270.1	37	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385752	0.42308	.	.	ENSG00000172199	ENST00000302270	T	0.42513	0.97	5.69	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000129	T	0.78648	0.4316	H	0.98786	4.33	0.37260	D	0.906959	D	0.89917	1.0	D	0.87578	0.998	D	0.89402	0.3696	10	0.87932	D	0	.	14.809	0.69979	0.0:0.9305:0.0:0.0695	.	240	Q8NH10	OR8U1_HUMAN	M	240	ENSP00000304188:T240M	ENSP00000304188:T240M	T	+	2	0	OR8U1	55900394	1.000000	0.71417	0.829000	0.32907	0.003000	0.03518	4.695000	0.61767	1.417000	0.47077	0.579000	0.79373	ACG		0.473	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
PCNXL3	399909	hgsc.bcm.edu	37	11	65380783	65380783	+	5'Flank	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:65380783C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.D149N|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCATCGGGGTCCTGGCGAGCT	0.637																																																	0			11											48.0	49.0	49.0					11																	65380783		2201	4297	6498	65137359	SO:0001631	upstream_gene_variant	4296			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380783C>T	Exception_encountered		65137359	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704284	0.88924	.	.	ENSG00000173327	ENST00000309100	D	0.93659	-3.26	4.09	3.16	0.36331	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.081152	0.47852	D	0.000207	D	0.90383	0.6990	N	0.11651	0.15	0.80722	D	1	P	0.50943	0.94	P	0.57548	0.823	D	0.90812	0.4702	10	0.87932	D	0	.	11.4476	0.50134	0.0:0.816:0.184:0.0	.	149	Q16584	M3K11_HUMAN	N	149	ENSP00000309597:D149N	ENSP00000309597:D149N	D	-	1	0	MAP3K11	65137359	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.578000	0.82498	0.914000	0.36822	0.563000	0.77884	GAC		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810612	65810612	+	Missense_Mutation	SNP	G	G	T	rs35285455	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:65810612G>T	ENST00000312006.4	-	3	943	c.662C>A	c.(661-663)gCc>gAc	p.A221D	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A221D	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	221			A -> D (in dbSNP:rs35285455).		monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CAGGTAGGCGGCGTCGTCGCG	0.657													G|||	66	0.0131789	0.0242	0.0101	5008	,	,		9967	0.0		0.0189	False		,,,				2504	0.0082																0			11						G	ASP/ALA	81,4313		1,79,2117	31.0	37.0	35.0		662	2.6	1.0	11	dbSNP_126	35	157,8411		1,155,4128	yes	missense	GAL3ST3	NM_033036.2	126	2,234,6245	TT,TG,GG		1.8324,1.8434,1.8361	benign	221/432	65810612	238,12724	2197	4284	6481	65567188	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.662C>A	11.37:g.65810612G>T	ENSP00000308591:p.Ala221Asp		65567188	Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	21	0.009615384615384616	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	13	0.017150395778364115	G	7.938	0.742112	0.15642	0.018434	0.018324	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14391	2.51;2.51	4.51	2.57	0.30868	.	0.445001	0.22406	N	0.060466	T	0.02012	0.0063	N	0.02158	-0.66	0.32668	N	0.517241	B	0.02656	0.0	B	0.01281	0.0	T	0.32375	-0.9909	10	0.14656	T	0.56	-4.5024	9.826	0.40912	0.0:0.0:0.6262:0.3738	rs35285455	221	Q96A11	G3ST3_HUMAN	D	221	ENSP00000308591:A221D;ENSP00000434829:A221D	ENSP00000308591:A221D	A	-	2	0	GAL3ST3	65567188	0.040000	0.19996	0.968000	0.41197	0.996000	0.88848	0.659000	0.24994	0.417000	0.25871	0.561000	0.74099	GCC		0.657	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249587	71249587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:71249587C>A	ENST00000398534.3	+	1	517	c.486C>A	c.(484-486)tgC>tgA	p.C162*		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	162	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GGTCATCCTGCTGCCAGTCCA	0.597																																																	0			11											138.0	147.0	144.0					11																	71249587		2200	4290	6490	70927235	SO:0001587	stop_gained	440021			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.486C>A	11.37:g.71249587C>A	ENSP00000420723:p.Cys162*		70927235	Q6L8G7|Q6UTX6	Nonsense_Mutation	SNP	ENST00000398534.3	37	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	12.56	1.974479	0.34848	.	.	ENSG00000241233	ENST00000398534	.	.	.	1.77	0.825	0.18824	.	.	.	.	.	.	.	.	.	.	.	0.30988	N	0.721761	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9625	0.09417	0.0:0.6045:0.0:0.3955	.	.	.	.	X	162	.	ENSP00000420723:C162X	C	+	3	2	KRTAP5-8	70927235	0.037000	0.19845	0.285000	0.24819	0.073000	0.16967	0.811000	0.27198	0.304000	0.22809	0.655000	0.94253	TGC		0.597	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
IL18BP	10068	hgsc.bcm.edu	37	11	71712581	71712581	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:71712581G>A	ENST00000393703.4	+	5	1027	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	IL18BP_ENST00000497194.2_Missense_Mutation_p.V164I|IL18BP_ENST00000531053.1_Missense_Mutation_p.V164I|IL18BP_ENST00000260049.5_Missense_Mutation_p.V164I|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000404792.1_Missense_Mutation_p.V164I|IL18BP_ENST00000393705.4_Missense_Mutation_p.V164I|IL18BP_ENST00000337131.5_Missense_Mutation_p.V164I	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	164	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCGTCACGTCGTCCTGGCCCA	0.627																																																	0			11											27.0	29.0	28.0					11																	71712581		2062	4202	6264	71390229	SO:0001583	missense	10068			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.490G>A	11.37:g.71712581G>A	ENSP00000377306:p.Val164Ile		71390229	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506085	0.12883	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049	T;T;T;T;T;T;T	0.36340	1.29;1.26;1.29;1.29;1.26;1.29;1.29	4.2	-5.13	0.02884	Immunoglobulin-like (1);	1.611470	0.03838	N	0.270179	T	0.21509	0.0518	L	0.42245	1.32	0.09310	N	1	B;B	0.21821	0.045;0.061	B;B	0.15052	0.012;0.011	T	0.16541	-1.0399	10	0.09084	T	0.74	-2.5139	1.6323	0.02734	0.3039:0.2538:0.3248:0.1174	.	164;164	G3V1C5;O95998	.;I18BP_HUMAN	I	164	ENSP00000377306:V164I;ENSP00000434717:V164I;ENSP00000377308:V164I;ENSP00000338723:V164I;ENSP00000434835:V164I;ENSP00000384212:V164I;ENSP00000260049:V164I	ENSP00000260049:V164I	V	+	1	0	IL18BP	71390229	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.772000	0.00779	-1.182000	0.02727	-2.630000	0.00154	GTC		0.627	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
GRIA4	2893	hgsc.bcm.edu	37	11	105732755	105732755	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:105732755T>C	ENST00000530497.1	+	4	493	c.493T>C	c.(493-495)Tcg>Ccg	p.S165P	GRIA4_ENST00000428631.2_Missense_Mutation_p.S165P|GRIA4_ENST00000525187.1_Missense_Mutation_p.S165P|GRIA4_ENST00000393127.2_Missense_Mutation_p.S165P|GRIA4_ENST00000282499.5_Missense_Mutation_p.S165P|GRIA4_ENST00000393125.2_Missense_Mutation_p.S165P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	165					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AATAGGATACTCGATACTCCA	0.368																																																	0			11											85.0	85.0	85.0					11																	105732755		2202	4299	6501	105237965	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.493T>C	11.37:g.105732755T>C	ENSP00000435775:p.Ser165Pro		105237965	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185673	0.57909	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.000000	0.56097	D	0.000039	D	0.87010	0.6071	L	0.59436	1.845	0.53005	D	0.999964	B;P;D;P	0.54964	0.268;0.909;0.969;0.924	B;P;P;P	0.56398	0.128;0.547;0.676;0.797	D	0.87417	0.2379	10	0.49607	T	0.09	.	15.2545	0.73573	0.0:0.0:0.0:1.0	.	165;165;195;165	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	P	165	ENSP00000376833:S165P;ENSP00000282499:S165P;ENSP00000376835:S165P;ENSP00000415551:S165P;ENSP00000435775:S165P;ENSP00000432180:S165P	ENSP00000282499:S165P	S	+	1	0	GRIA4	105237965	1.000000	0.71417	0.966000	0.40874	0.749000	0.42624	4.840000	0.62817	2.004000	0.58718	0.455000	0.32223	TCG		0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
DSCAML1	57453	hgsc.bcm.edu	37	11	117374606	117374606	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:117374606G>A	ENST00000321322.6	-	11	2494	c.2493C>T	c.(2491-2493)aaC>aaT	p.N831N	DSCAML1_ENST00000527706.1_Silent_p.N561N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	771	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCCTACGCCGTTGCTGGCCT	0.617																																																	0			11											107.0	79.0	89.0					11																	117374606		2201	4296	6497	116879816	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2493C>T	11.37:g.117374606G>A			116879816	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
NLRX1	79671	hgsc.bcm.edu	37	11	119045975	119045975	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:119045975C>T	ENST00000409109.1	+	6	2250	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	NLRX1_ENST00000409991.1_Silent_p.L555L|NLRX1_ENST00000409265.4_Silent_p.L555L|NLRX1_ENST00000525863.1_Silent_p.L555L|NLRX1_ENST00000292199.2_Silent_p.L555L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	555	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTCTTCAACCTGATCAAGGT	0.632																																																	0			11											91.0	95.0	94.0					11																	119045975		2200	4295	6495	118551185	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1663C>T	11.37:g.119045975C>T			118551185	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	CCDS8416.1																																																																																				0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
MFRP	83552	hgsc.bcm.edu	37	11	119215650	119215650	+	Missense_Mutation	SNP	C	C	T	rs147276252		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:119215650C>T	ENST00000530681.1	-	6	850	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.V236I|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.V236I|MFRP_ENST00000449574.2_Missense_Mutation_p.V236I	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	236	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGTCAGAGACGAAGACCACC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19452	0.0		0.001	False		,,,				2504	0.0																0			11						C	,ILE/VAL	0,4394		0,0,2197	37.0	27.0	30.0		,706	2.2	1.0	11	dbSNP_134	30	1,8585	1.2+/-3.3	0,1,4292	no	utr-5,missense	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,29	0,1,6489	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,236/580	119215650	1,12979	2197	4293	6490	118720860	SO:0001583	missense	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.706G>A	11.37:g.119215650C>T	ENSP00000456533:p.Val236Ile		118720860	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.7	4.042036	0.75732	0.0	1.16E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.28666	1.6;1.6;1.6	5.1	2.24	0.28232	CUB (5);	0.362582	0.28784	N	0.014157	T	0.39172	0.1068	L	0.43923	1.385	0.24387	N	0.994768	D;D	0.71674	0.998;0.986	P;P	0.60609	0.877;0.759	T	0.17776	-1.0358	10	0.37606	T	0.19	-15.8509	10.6378	0.45575	0.0:0.7933:0.0:0.2067	.	236;236	B4DHN8;Q9BY79	.;MFRP_HUMAN	I	236	ENSP00000450509:V236I;ENSP00000391664:V236I;ENSP00000353291:V236I	ENSP00000353291:V236I	V	-	1	0	MFRP	118720860	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.948000	0.40303	0.283000	0.22279	-0.219000	0.12488	GTC		0.607	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
TECTA	7007	hgsc.bcm.edu	37	11	121033054	121033054	+	Silent	SNP	C	C	T	rs377599437		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:121033054C>T	ENST00000392793.1	+	16	5518	c.5247C>T	c.(5245-5247)acC>acT	p.T1749T	TECTA_ENST00000264037.2_Silent_p.T1749T			O75443	TECTA_HUMAN	tectorin alpha	1749					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCTTAGCACCGAGTGGATTG	0.507																																																	0			11						C		0,4406		0,0,2203	26.0	29.0	28.0		5247	-6.1	0.9	11		28	1,8587		0,1,4293	no	coding-synonymous	TECTA	NM_005422.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		1749/2156	121033054	1,12993	2203	4294	6497	120538264	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5247C>T	11.37:g.121033054C>T			120538264		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
RNF182	221687	hgsc.bcm.edu	37	6	13978054	13978054	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:13978054T>C	ENST00000488300.1	+	3	1227	c.704T>C	c.(703-705)gTt>gCt	p.V235A	RNF182_ENST00000544682.1_Missense_Mutation_p.V235A|RNF182_ENST00000537388.1_Missense_Mutation_p.V235A|RNF182_ENST00000537663.1_Missense_Mutation_p.V235A	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	235					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGCCAGTGTGTTTGTCATGAA	0.418																																																	0			6											170.0	159.0	162.0					6																	13978054		2203	4300	6503	14086033	SO:0001583	missense	221687			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.704T>C	6.37:g.13978054T>C	ENSP00000420465:p.Val235Ala		14086033	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.555231	0.45487	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.51	5.51	0.81932	.	0.595355	0.16295	N	0.220713	T	0.01905	0.0060	N	0.08118	0	0.36120	D	0.845408	B	0.19200	0.034	B	0.17098	0.017	T	0.48692	-0.9013	9	.	.	.	-5.5304	15.6376	0.76966	0.0:0.0:0.0:1.0	.	235	Q8N6D2	RN182_HUMAN	A	235	ENSP00000443228:V235A;ENSP00000420465:V235A;ENSP00000442021:V235A;ENSP00000441271:V235A	.	V	+	2	0	RNF182	14086033	1.000000	0.71417	0.866000	0.34008	0.985000	0.73830	5.902000	0.69869	2.090000	0.63153	0.460000	0.39030	GTT		0.418	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737	
OR5V1	81696	hgsc.bcm.edu	37	6	29323830	29323830	+	Missense_Mutation	SNP	G	G	A	rs150457685		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:29323830G>A	ENST00000377154.1	-	4	442	c.143C>T	c.(142-144)aCg>aTg	p.T48M	OR5V1_ENST00000543825.1_Missense_Mutation_p.T48M			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTCACAGTCGTCAAGATAAT	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		18339	0.0		0.001	False		,,,				2504	0.0				Ovarian(32;43 883 21137 32120 42650)												0			6											138.0	140.0	139.0					6																	29323830		2203	4300	6503	29431809	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.143C>T	6.37:g.29323830G>A	ENSP00000366359:p.Thr48Met		29431809	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	8.253	0.809510	0.16537	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.03124	4.04;4.04	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	L	0.33792	1.035	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46386	-0.9195	9	0.66056	D	0.02	-18.7518	9.9169	0.41439	0.9169:0.0:0.0831:0.0	.	48	Q9UGF6	OR5V1_HUMAN	M	48	ENSP00000366359:T48M;ENSP00000443309:T48M	ENSP00000366356:T48M	T	-	2	0	OR5V1	29431809	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.425000	0.21346	0.814000	0.34374	-0.434000	0.05882	ACG		0.388	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
SENP6	26054	hgsc.bcm.edu	37	6	76373129	76373129	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:76373129A>G	ENST00000447266.2	+	9	1367	c.889A>G	c.(889-891)Act>Gct	p.T297A	SENP6_ENST00000370010.2_Missense_Mutation_p.T290A|SENP6_ENST00000327284.8_Missense_Mutation_p.T290A|SENP6_ENST00000370014.3_Missense_Mutation_p.T297A	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	297					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGTAAACACACTTATTTACA	0.333																																																	0			6											107.0	101.0	103.0					6																	76373129		1823	4090	5913	76429849	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.889A>G	6.37:g.76373129A>G	ENSP00000402527:p.Thr297Ala		76429849	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	8.946	0.967055	0.18659	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.42131	2.79;2.77;1.55;2.78;0.98;1.56	5.35	4.16	0.48862	.	0.494197	0.21704	N	0.070370	T	0.07279	0.0184	N	0.02011	-0.69	0.80722	D	1	B;B;B	0.16802	0.019;0.011;0.019	B;B;B	0.15484	0.013;0.006;0.013	T	0.08086	-1.0739	10	0.52906	T	0.07	-8.6407	7.2468	0.26127	0.6018:0.2577:0.0:0.1405	.	290;297;290	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	A	290;297;290;297;187;187	ENSP00000359027:T290A;ENSP00000359031:T297A;ENSP00000321820:T290A;ENSP00000402527:T297A;ENSP00000426480:T187A;ENSP00000391426:T187A	ENSP00000321820:T290A	T	+	1	0	SENP6	76429849	1.000000	0.71417	0.980000	0.43619	0.197000	0.23852	3.130000	0.50508	0.942000	0.37525	0.533000	0.62120	ACT		0.333	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
ZNF292	23036	hgsc.bcm.edu	37	6	87928403	87928403	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:87928403G>A	ENST00000369577.3	+	4	535	c.492G>A	c.(490-492)ccG>ccA	p.P164P	ZNF292_ENST00000339907.4_Silent_p.P164P|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	164						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGAAAAACCCGGTACTGTGCA	0.368																																																	0			6											41.0	41.0	41.0					6																	87928403		1822	4077	5899	87985122	SO:0001819	synonymous_variant	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.492G>A	6.37:g.87928403G>A			87985122	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	hgsc.bcm.edu	37	6	87971463	87971463	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:87971463A>T	ENST00000369577.3	+	8	8159	c.8116A>T	c.(8116-8118)Atg>Ttg	p.M2706L	ZNF292_ENST00000339907.4_Missense_Mutation_p.M2701L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2706						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGATCCAGATATGTCTGTTAT	0.323																																																	0			6											51.0	50.0	50.0					6																	87971463		1826	4078	5904	88028182	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.8116A>T	6.37:g.87971463A>T	ENSP00000358590:p.Met2706Leu		88028182	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	3.620	-0.077838	0.07184	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05258	3.47;3.48	6.05	0.766	0.18476	.	0.719989	0.13400	N	0.390739	T	0.00496	0.0016	N	0.01352	-0.895	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.18276	T	0.48	.	1.574	0.02621	0.4371:0.2081:0.2329:0.1218	.	2706	O60281	ZN292_HUMAN	L	2706;2701	ENSP00000358590:M2706L;ENSP00000342847:M2701L	ENSP00000342847:M2701L	M	+	1	0	ZNF292	88028182	0.000000	0.05858	0.953000	0.39169	0.953000	0.61014	-0.102000	0.10956	0.705000	0.31890	0.528000	0.53228	ATG		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
EPHA7	2045	hgsc.bcm.edu	37	6	93965716	93965716	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:93965716T>C	ENST00000369303.4	-	13	2396	c.2212A>G	c.(2212-2214)Atg>Gtg	p.M738V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	738	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTCTCAGCATTCCTACTAAC	0.403																																																	0			6											135.0	130.0	132.0					6																	93965716		2203	4300	6503	94022437	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2212A>G	6.37:g.93965716T>C	ENSP00000358309:p.Met738Val		94022437	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569161	0.86439	.	.	ENSG00000135333	ENST00000369303	T	0.61040	0.14	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48187	0.1486	L	0.29908	0.895	0.80722	D	1	P;D;D	0.55385	0.825;0.964;0.971	P;P;P	0.51615	0.629;0.546;0.675	T	0.56153	-0.8026	10	0.72032	D	0.01	.	16.0455	0.80717	0.0:0.0:0.0:1.0	.	734;733;738	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	738	ENSP00000358309:M738V	ENSP00000358309:M738V	M	-	1	0	EPHA7	94022437	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.189000	0.69895	0.460000	0.39030	ATG		0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
FRK	2444	hgsc.bcm.edu	37	6	116263658	116263658	+	Silent	SNP	T	T	C	rs148599364	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:116263658T>C	ENST00000606080.1	-	8	1883	c.1437A>G	c.(1435-1437)acA>acG	p.T479T	FRK_ENST00000538210.1_Silent_p.T337T	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTGTCTCAAATGTAGGTCGTT	0.398																																																	0			6											145.0	138.0	140.0					6																	116263658		2203	4300	6503	116370351	SO:0001819	synonymous_variant	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1437A>G	6.37:g.116263658T>C			116370351	B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	CCDS5103.1																																																																																				0.398	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
ABR	29	hgsc.bcm.edu	37	17	1028683	1028683	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:1028683G>A	ENST00000302538.5	-	2	227	c.81C>T	c.(79-81)gaC>gaT	p.D27D	ABR_ENST00000574437.1_De_novo_Start_OutOfFrame|ABR_ENST00000544583.2_De_novo_Start_OutOfFrame	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	27					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGTCGTACTCGTCCGTCCCGT	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0			17											107.0	99.0	102.0					17																	1028683		2203	4300	6503	975433	SO:0001819	synonymous_variant	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.81C>T	17.37:g.1028683G>A			975433	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																				0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
OR3A2	4995	hgsc.bcm.edu	37	17	3182182	3182182	+	Silent	SNP	G	G	A	rs376118398		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:3182182G>A	ENST00000408891.2	-	1	86	c.48C>T	c.(46-48)acC>acT	p.T16T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	16					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CAGCAACAGCGGTCCTATTGG	0.483																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0			17						T		3,4393		0,3,2195	24.0	27.0	26.0		48	-8.2	0.0	17		26	0,8548		0,0,4274	no	coding-synonymous	OR3A2	NM_002551.3		0,3,6469	AA,AG,GG		0.0,0.0682,0.0232		16/322	3182182	3,12941	2198	4274	6472	3128932	SO:0001819	synonymous_variant	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.48C>T	17.37:g.3182182G>A			3128932	Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	CCDS42233.1																																																																																				0.483	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1		
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		7518273	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	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
AKAP10	11216	hgsc.bcm.edu	37	17	19839689	19839689	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:19839689T>C	ENST00000225737.6	-	9	1534	c.1377A>G	c.(1375-1377)ttA>ttG	p.L459L	AKAP10_ENST00000395536.3_Silent_p.L459L	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	459	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.L459L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATTCAATTTCTAATCGTACAA	0.438																																																	1	Substitution - coding silent(1)	skin(1)	17											107.0	92.0	97.0					17																	19839689		2203	4300	6503	19780281	SO:0001819	synonymous_variant	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1377A>G	17.37:g.19839689T>C			19780281	B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	CCDS11214.1																																																																																				0.438	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202	
NF1	4763	hgsc.bcm.edu	37	17	29509617	29509617	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:29509617T>C	ENST00000358273.4	+	8	1205	c.822T>C	c.(820-822)ctT>ctC	p.L274L	NF1_ENST00000431387.4_Silent_p.L274L|NF1_ENST00000356175.3_Silent_p.L274L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	274					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATTCTCCTTATCTTGTGTC	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	17											108.0	91.0	97.0					17																	29509617		2203	4300	6503	26533743	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.822T>C	17.37:g.29509617T>C			26533743	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NR1D1	9572	hgsc.bcm.edu	37	17	38249487	38249487	+	Missense_Mutation	SNP	G	G	A	rs201684407		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:38249487G>A	ENST00000246672.3	-	8	2324	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	THRA_ENST00000394121.4_Missense_Mutation_p.R442H|THRA_ENST00000584985.1_Missense_Mutation_p.R403H|THRA_ENST00000264637.4_Missense_Mutation_p.R442H	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	565	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCGCAGCAGCGTCTCCTGGAG	0.652																																																	0			17											37.0	41.0	39.0					17																	38249487		2203	4300	6503	35503013	SO:0001583	missense	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1694C>T	17.37:g.38249487G>A	ENSP00000246672:p.Thr565Met		35503013	Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	CCDS11361.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.678832|3.678832	0.68042|0.68042	.|.	.|.	ENSG00000126351|ENSG00000126368	ENST00000394121;ENST00000264637|ENST00000246672	D;D|D	0.94613|0.96587	-3.47;-3.47|-4.06	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.077801	.|0.49916	.|D	.|0.000122	D|D	0.96172|0.96172	0.8752|0.8752	N|N	0.19112|0.19112	0.55|0.55	0.43703|0.43703	D|D	0.996161|0.996161	D;P|D	0.55800|0.89917	0.973;0.955|1.0	B;B|D	0.41723|0.79108	0.365;0.2|0.992	D|D	0.97103|0.97103	0.9799|0.9799	9|10	0.72032|0.66056	D|D	0.01|0.02	.|.	17.3484|17.3484	0.87316|0.87316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	403;442|565	P10827-3;P10827|P20393	.;THA_HUMAN|NR1D1_HUMAN	H|M	442|565	ENSP00000377679:R442H;ENSP00000264637:R442H|ENSP00000246672:T565M	ENSP00000264637:R442H|ENSP00000246672:T565M	R|T	+|-	2|2	0|0	THRA|NR1D1	35503013|35503013	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.934000|1.934000	0.40163|0.40163	2.618000|2.618000	0.88619|0.88619	0.563000|0.563000	0.77884|0.77884	CGT|ACG		0.652	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1		
TUBG2	27175	hgsc.bcm.edu	37	17	40817777	40817777	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:40817777T>C	ENST00000251412.7	+	8	974	c.775T>C	c.(775-777)Tcg>Ccg	p.S259P	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	259					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCTCATCGCCTCGCTCATTCC	0.622																																																	0			17											222.0	180.0	194.0					17																	40817777		2203	4300	6503	38071303	SO:0001583	missense	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.775T>C	17.37:g.40817777T>C	ENSP00000251412:p.Ser259Pro		38071303	A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929278	0.52759	.	.	ENSG00000037042	ENST00000251412	D	0.84800	-1.9	4.63	4.63	0.57726	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.78566	0.4303	L	0.37630	1.12	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.73300	-0.4026	10	0.29301	T	0.29	-8.3935	14.0672	0.64837	0.0:0.0:0.0:1.0	.	259	Q9NRH3	TBG2_HUMAN	P	259	ENSP00000251412:S259P	ENSP00000251412:S259P	S	+	1	0	TUBG2	38071303	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	7.917000	0.87498	1.728000	0.51552	0.379000	0.24179	TCG		0.622	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437	
IGF2BP1	10642	hgsc.bcm.edu	37	17	47115649	47115649	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:47115649G>A	ENST00000290341.3	+	6	855	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	174					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGGCTCTCGGGGTCAGCCC	0.657																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0			17											31.0	37.0	35.0					17																	47115649		2203	4300	6503	44470648	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.521G>A	17.37:g.47115649G>A	ENSP00000290341:p.Arg174Gln		44470648	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.776025	0.96922	.	.	ENSG00000159217	ENST00000290341	T	0.21191	2.02	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.31071	0.0785	L	0.59436	1.845	0.80722	D	1	D	0.54397	0.966	P	0.47626	0.552	T	0.01472	-1.1346	10	0.31617	T	0.26	-22.2604	19.0998	0.93269	0.0:0.0:1.0:0.0	.	174	Q9NZI8	IF2B1_HUMAN	Q	174	ENSP00000290341:R174Q	ENSP00000290341:R174Q	R	+	2	0	IGF2BP1	44470648	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.491000	0.66887	2.585000	0.87301	0.655000	0.94253	CGG		0.657	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
VEZF1	7716	hgsc.bcm.edu	37	17	56056657	56056657	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:56056657T>C	ENST00000581208.1	-	5	1034	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	VEZF1_ENST00000584396.1_Missense_Mutation_p.T323A	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	332					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TGGTTACTGGTCTCTTCACTC	0.438																																																	0			17											96.0	100.0	99.0					17																	56056657		2203	4300	6503	53411656	SO:0001583	missense	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.994A>G	17.37:g.56056657T>C	ENSP00000462337:p.Thr332Ala		53411656		Missense_Mutation	SNP	ENST00000581208.1	37	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577517	0.45902	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.61	5.61	0.85477	.	1.042020	0.07417	N	0.893314	T	0.42810	0.1219	N	0.08118	0	0.39888	D	0.973735	B	0.10296	0.003	B	0.08055	0.003	T	0.06679	-1.0813	9	0.35671	T	0.21	1.3406	14.3775	0.66889	0.0:0.0:0.0:1.0	.	332	Q14119	VEZF1_HUMAN	A	332	.	ENSP00000258963:T332A	T	-	1	0	VEZF1	53411656	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.381000	0.52455	2.143000	0.66587	0.533000	0.62120	ACC		0.438	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1		
TRIM37	4591	hgsc.bcm.edu	37	17	57125156	57125156	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:57125156C>T	ENST00000262294.7	-	16	1814	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRIM37_ENST00000393066.3_Missense_Mutation_p.D519N|TRIM37_ENST00000393065.2_Missense_Mutation_p.D485N|TRIM37_ENST00000376149.3_Missense_Mutation_p.D397N	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	519					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGATCCAGATCCAGATCTCCA	0.413									Mulibrey Nanism																																								0			17											113.0	102.0	106.0					17																	57125156		2203	4300	6503	54479938	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1555G>A	17.37:g.57125156C>T	ENSP00000262294:p.Asp519Asn		54479938	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543314	0.96474	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.68624	1.42;1.42;-0.34;1.03	5.74	5.74	0.90152	.	0.053328	0.64402	D	0.000001	T	0.74283	0.3696	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.996	D;D;P	0.66196	0.942;0.942;0.877	T	0.76313	-0.3005	10	0.72032	D	0.01	-29.1409	19.9145	0.97053	0.0:1.0:0.0:0.0	.	485;397;519	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	N	519;519;397;485	ENSP00000376785:D519N;ENSP00000262294:D519N;ENSP00000365319:D397N;ENSP00000376784:D485N	ENSP00000262294:D519N	D	-	1	0	TRIM37	54479938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.707000	0.92482	0.557000	0.71058	GAT		0.413	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
LTN1	26046	hgsc.bcm.edu	37	21	30358519	30358519	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr21:30358519T>C	ENST00000361371.5	-	3	365	c.286A>G	c.(286-288)Aca>Gca	p.T96A	LTN1_ENST00000389195.2_Missense_Mutation_p.T142A|LTN1_ENST00000389194.2_Missense_Mutation_p.T142A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	96					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACAGTTTCTGTGTCTCTCTCT	0.308																																																	0			21											62.0	63.0	62.0					21																	30358519		2202	4298	6500	29280390	SO:0001583	missense	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.286A>G	21.37:g.30358519T>C	ENSP00000354977:p.Thr96Ala		29280390	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	T	7.844	0.722604	0.15439	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.65178	3.6;3.6;-0.14	4.2	3.03	0.35002	Armadillo-like helical (1);Armadillo-type fold (1);	0.154150	0.41396	D	0.000889	T	0.30230	0.0758	N	0.05306	-0.075	0.35507	D	0.800264	B	0.02656	0.0	B	0.04013	0.001	T	0.28004	-1.0057	10	0.06891	T	0.86	.	4.9027	0.13782	0.0:0.2187:0.0:0.7813	.	96	O94822	LTN1_HUMAN	A	142;96;98;142	ENSP00000373846:T142A;ENSP00000354977:T96A;ENSP00000373847:T142A	ENSP00000354977:T96A	T	-	1	0	LTN1	29280390	0.364000	0.24997	1.000000	0.80357	0.990000	0.78478	0.599000	0.24089	1.779000	0.52309	0.383000	0.25322	ACA		0.308	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
BRWD1	54014	hgsc.bcm.edu	37	21	40568294	40568294	+	Intron	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr21:40568294C>T	ENST00000333229.2	-	41	6899				BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000342449.3_Missense_Mutation_p.R2234H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATTTTTGAACGTCGAAGAAC	0.393																																					Melanoma(170;988 1986 4794 16843 39731)												0			21											195.0	190.0	191.0					21																	40568294		2203	4300	6503	39490164	SO:0001627	intron_variant	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6571+129G>A	21.37:g.40568294C>T			39490164	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912234	0.52439	.	.	ENSG00000185658	ENST00000342449	T	0.56275	0.47	5.53	4.64	0.57946	.	.	.	.	.	T	0.70263	0.3204	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.63703	0.917	T	0.73579	-0.3938	8	0.51188	T	0.08	.	15.9865	0.80157	0.1352:0.8648:0.0:0.0	.	2234	Q9NSI6-2	.	H	2234	ENSP00000344333:R2234H	ENSP00000344333:R2234H	R	-	2	0	BRWD1	39490164	0.301000	0.24444	0.999000	0.59377	0.998000	0.95712	2.019000	0.41001	1.307000	0.44944	0.655000	0.94253	CGT		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
ABCC6	368	hgsc.bcm.edu	37	16	16263583	16263583	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr16:16263583G>A	ENST00000205557.7	-	22	2944	c.2915C>T	c.(2914-2916)gCg>gTg	p.A972V		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	972	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	AGGGTCGTCCGCCCACAGGCT	0.682																																																	0			16											20.0	19.0	20.0					16																	16263583		2194	4298	6492	16171084	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.2915C>T	16.37:g.16263583G>A	ENSP00000205557:p.Ala972Val		16171084	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910698	0.72983	.	.	ENSG00000091262	ENST00000205557	D	0.93019	-3.15	5.11	3.15	0.36227	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.297384	0.23626	U	0.046193	D	0.91345	0.7270	L	0.38838	1.175	0.80722	D	1	D	0.63880	0.993	P	0.51170	0.661	D	0.91051	0.4878	10	0.87932	D	0	.	10.8368	0.46692	0.1525:0.0:0.8475:0.0	.	972	O95255	MRP6_HUMAN	V	972	ENSP00000205557:A972V	ENSP00000205557:A972V	A	-	2	0	ABCC6	16171084	1.000000	0.71417	0.887000	0.34795	0.583000	0.36354	5.751000	0.68720	1.149000	0.42402	0.551000	0.68910	GCG		0.682	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
NUP93	9688	hgsc.bcm.edu	37	16	56866217	56866217	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr16:56866217T>C	ENST00000308159.5	+	12	1383	c.1262T>C	c.(1261-1263)gTg>gCg	p.V421A	NUP93_ENST00000569842.1_Missense_Mutation_p.V421A|NUP93_ENST00000564887.1_Missense_Mutation_p.V298A|NUP93_ENST00000542526.1_Missense_Mutation_p.V298A	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	421					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTGAACCAAGTGTGTTTTGAC	0.473																																					Colon(33;610 796 1305 1705 38917)												0			16											181.0	166.0	171.0					16																	56866217		2198	4300	6498	55423718	SO:0001583	missense	9688			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1262T>C	16.37:g.56866217T>C	ENSP00000310668:p.Val421Ala		55423718	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	T	33	5.283572	0.95489	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.47528	0.84;0.84	6.03	6.03	0.97812	.	0.052556	0.85682	D	0.000000	T	0.64724	0.2624	M	0.74881	2.28	0.80722	D	1	D	0.60160	0.987	P	0.61003	0.882	T	0.61461	-0.7058	10	0.20046	T	0.44	-20.3252	16.5582	0.84512	0.0:0.0:0.0:1.0	.	421	Q8N1F7	NUP93_HUMAN	A	421;298	ENSP00000310668:V421A;ENSP00000440235:V298A	ENSP00000310668:V421A	V	+	2	0	NUP93	55423718	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.895000	0.87343	2.308000	0.77769	0.533000	0.62120	GTG		0.473	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
ZDHHC1	29800	hgsc.bcm.edu	37	16	67440242	67440242	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr16:67440242C>T	ENST00000348579.2	-	3	454	c.113G>A	c.(112-114)cGa>cAa	p.R38Q		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	38					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CCGGCGGGATCGCTGGCCCTG	0.627																																																	0			16											36.0	28.0	31.0					16																	67440242		2190	4292	6482	65997743	SO:0001583	missense	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.113G>A	16.37:g.67440242C>T	ENSP00000340299:p.Arg38Gln		65997743	O15461	Missense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769939	0.90020	.	.	ENSG00000159714	ENST00000348579	T	0.36699	1.24	5.25	4.23	0.50019	.	0.093431	0.46758	D	0.000276	T	0.45677	0.1354	L	0.49126	1.545	0.35383	D	0.790061	D	0.89917	1.0	D	0.66196	0.942	T	0.49862	-0.8894	10	0.24483	T	0.36	.	8.1309	0.31027	0.0:0.756:0.1605:0.0835	.	38	Q8WTX9	ZDHC1_HUMAN	Q	38	ENSP00000340299:R38Q	ENSP00000340299:R38Q	R	-	2	0	ZDHHC1	65997743	0.448000	0.25681	0.993000	0.49108	0.902000	0.53008	1.482000	0.35486	2.463000	0.83235	0.561000	0.74099	CGA		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304	
ANKRD11	29123	hgsc.bcm.edu	37	16	89357573	89357573	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr16:89357573C>T	ENST00000301030.4	-	5	705	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R82Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	82					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AATCCTCTTCCGCTCAGGGCC	0.607																																																	0			16											46.0	52.0	50.0					16																	89357573		2198	4300	6498	87885074	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.245G>A	16.37:g.89357573C>T	ENSP00000301030:p.Arg82Gln		87885074	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	36	5.699436	0.96802	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.48836	0.8;0.8	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	L	0.40543	1.245	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.998	D;P;D	0.74674	0.984;0.644;0.96	T	0.63756	-0.6565	10	0.72032	D	0.01	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	82;96;82	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	Q	82;82;96	ENSP00000301030:R82Q;ENSP00000367581:R82Q	ENSP00000301030:R82Q	R	-	2	0	ANKRD11	87885074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.949000	0.70257	2.702000	0.92279	0.655000	0.94253	CGG		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
TUBB3	10381	hgsc.bcm.edu	37	16	90001587	90001587	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr16:90001587C>T	ENST00000315491.7	+	4	851	c.728C>T	c.(727-729)cCg>cTg	p.P243L	TUBB3_ENST00000554444.1_Missense_Mutation_p.P171L|TUBB3_ENST00000304984.5_Missense_Mutation_p.P171L|TUBB3_ENST00000556922.1_Missense_Mutation_p.P590L|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	243					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P243Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TTGCGCTTCCCGGGCCAGCTC	0.667																																																	1	Substitution - Missense(1)	kidney(1)	16											58.0	52.0	54.0					16																	90001587		2198	4300	6498	88529088	SO:0001583	missense	10381			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.728C>T	16.37:g.90001587C>T	ENSP00000320295:p.Pro243Leu		88529088	A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705872	0.30232	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.67	4.67	0.58626	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000025	D	0.90686	0.7078	H	0.96547	3.84	0.80722	D	1	P;D	0.89917	0.949;1.0	B;D	0.97110	0.203;1.0	D	0.93867	0.7159	9	.	.	.	.	17.5189	0.87782	0.0:1.0:0.0:0.0	.	243;243	Q13509;B2RBD5	TBB3_HUMAN;.	L	590;243;171;171;171;243	ENSP00000451560:P590L;ENSP00000302777:P171L;ENSP00000450538:P171L;ENSP00000451617:P171L;ENSP00000320295:P243L	.	P	+	2	0	RP11-566K11.2;TUBB3	88529088	1.000000	0.71417	0.935000	0.37517	0.431000	0.31685	5.855000	0.69510	2.316000	0.78162	0.407000	0.27541	CCG		0.667	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086	
EMILIN2	84034	hgsc.bcm.edu	37	18	2891253	2891253	+	Silent	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr18:2891253G>T	ENST00000254528.3	+	4	1287	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	376					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAACAAGCCTGAGAAAAGAAA	0.502																																																	0			18											44.0	51.0	48.0					18																	2891253		2203	4300	6503	2881253	SO:0001819	synonymous_variant	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1128G>T	18.37:g.2891253G>T			2881253	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																				0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
MYOM1	8736	hgsc.bcm.edu	37	18	3188780	3188780	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr18:3188780C>T	ENST00000356443.4	-	4	1070	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R246Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.R246Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	246					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCTTTTCTCGAATCACAAC	0.453																																																	0			18											93.0	87.0	89.0					18																	3188780		1944	4137	6081	3178780	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.737G>A	18.37:g.3188780C>T	ENSP00000348821:p.Arg246Gln		3178780	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356344	0.95854	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.87;0.89;0.77	5.84	5.84	0.93424	.	0.071710	0.53938	D	0.000048	T	0.62429	0.2427	L	0.38175	1.15	0.44447	D	0.997374	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.61554	-0.7039	10	0.56958	D	0.05	.	19.7351	0.96200	0.0:1.0:0.0:0.0	.	246;246	P52179-2;P52179	.;MYOM1_HUMAN	Q	246	ENSP00000348821:R246Q;ENSP00000383413:R246Q;ENSP00000261606:R246Q	ENSP00000261606:R246Q	R	-	2	0	MYOM1	3178780	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.270000	0.58896	2.756000	0.94617	0.603000	0.83216	CGA		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
CCDC178	374864	hgsc.bcm.edu	37	18	30903494	30903494	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr18:30903494T>C	ENST00000383096.3	-	11	1165	c.983A>G	c.(982-984)aAg>aGg	p.K328R	CCDC178_ENST00000579947.1_Missense_Mutation_p.K328R|CCDC178_ENST00000403303.1_Missense_Mutation_p.K328R|CCDC178_ENST00000583930.1_Missense_Mutation_p.K328R|CCDC178_ENST00000300227.8_Missense_Mutation_p.K328R|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.K328R|CCDC178_ENST00000406524.2_Missense_Mutation_p.K328R			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	328																	GTAAATATCCTTATCAATCTC	0.318																																																	0			18											60.0	58.0	58.0					18																	30903494		2202	4295	6497	29157492	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.983A>G	18.37:g.30903494T>C	ENSP00000372576:p.Lys328Arg		29157492	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	9.255	1.041781	0.19748	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.52	-5.23	0.02798	.	.	.	.	.	T	0.16171	0.0389	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.20550	0.011;0.046;0.011;0.011	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.31641	-0.9936	9	0.13470	T	0.59	-8.9701	1.7952	0.03059	0.1362:0.2961:0.3495:0.2182	.	328;328;328;328	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	R	328	ENSP00000385591:K328R;ENSP00000372576:K328R;ENSP00000300227:K328R;ENSP00000385867:K328R;ENSP00000385234:K328R	ENSP00000300227:K328R	K	-	2	0	C18orf34	29157492	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.794000	0.01753	-0.620000	0.05641	0.528000	0.53228	AAG		0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
ATP2B2	491	hgsc.bcm.edu	37	3	10452333	10452333	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:10452333G>A	ENST00000352432.4	-	2	435	c.366C>T	c.(364-366)tcC>tcT	p.S122S	ATP2B2_ENST00000360273.2_Silent_p.S122S|ATP2B2_ENST00000343816.4_Silent_p.S122S|ATP2B2_ENST00000383800.4_Silent_p.S122S|ATP2B2_ENST00000397077.1_Silent_p.S122S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	122					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTGGTAGAAGGACAGCCCCA	0.642																																					Ovarian(125;1619 1709 15675 19819 38835)												0			3											145.0	153.0	151.0					3																	10452333		2203	4300	6503	10427333	SO:0001819	synonymous_variant	493			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.366C>T	3.37:g.10452333G>A			10427333	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.642	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
CAPN7	23473	hgsc.bcm.edu	37	3	15282120	15282120	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:15282120C>T	ENST00000253693.2	+	13	1801	c.1548C>T	c.(1546-1548)gaC>gaT	p.D516D		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	516	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGAAAATAGACAACGGTAAAT	0.294																																																	0			3											41.0	45.0	44.0					3																	15282120		2191	4298	6489	15257124	SO:0001819	synonymous_variant	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1548C>T	3.37:g.15282120C>T			15257124		Silent	SNP	ENST00000253693.2	37	CCDS2624.1																																																																																				0.294	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	
NEK10	152110	hgsc.bcm.edu	37	3	27343219	27343219	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:27343219T>C	ENST00000429845.2	-	14	1498	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	NEK10_ENST00000341435.5_Missense_Mutation_p.E379G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	379			E -> K (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCTTGTATTTCCCTAGGGCT	0.348																																																	0			3											42.0	37.0	38.0					3																	27343219		1565	3577	5142	27318223	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1136A>G	3.37:g.27343219T>C	ENSP00000395849:p.Glu379Gly		27318223	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	T	16.39	3.110411	0.56398	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.70631	-0.5	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.131196	0.49305	N	0.000159	T	0.65460	0.2693	L	0.44542	1.39	0.80722	D	1	D	0.59357	0.985	P	0.47206	0.541	T	0.63301	-0.6668	10	0.27082	T	0.32	.	11.1359	0.48375	0.0:0.0752:0.0:0.9248	.	379	Q6ZWH5	NEK10_HUMAN	G	379	ENSP00000343847:E379G	ENSP00000343847:E379G	E	-	2	0	NEK10	27318223	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.138000	0.64795	2.029000	0.59856	0.477000	0.44152	GAA		0.348	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
ARPP21	10777	hgsc.bcm.edu	37	3	35833957	35833957	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:35833957A>G	ENST00000187397.4	+	19	2572	c.2116A>G	c.(2116-2118)Aat>Gat	p.N706D	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.N707D|ARPP21_ENST00000444190.1_Missense_Mutation_p.N687D|ARPP21_ENST00000458225.1_Missense_Mutation_p.N707D|ARPP21_ENST00000337271.5_Missense_Mutation_p.N687D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	706	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAACGTGATAAATAACCAACA	0.463																																																	0			3											158.0	144.0	148.0					3																	35833957		2203	4300	6503	35808961	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2116A>G	3.37:g.35833957A>G	ENSP00000187397:p.Asn706Asp		35808961	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011310	0.35511	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.71	3.33	0.38152	.	0.311061	0.33959	N	0.004391	T	0.33352	0.0860	L	0.40543	1.245	0.19775	N	0.999954	B;B;B;B	0.27679	0.027;0.185;0.016;0.027	B;B;B;B	0.31101	0.073;0.124;0.02;0.073	T	0.24764	-1.0151	10	0.51188	T	0.08	-3.3237	8.3883	0.32514	0.7874:0.0:0.2126:0.0	.	707;229;706;687	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	D	707;687;687;706;707	ENSP00000414351:N707D;ENSP00000337792:N687D;ENSP00000405276:N687D;ENSP00000187397:N706D;ENSP00000412326:N707D	ENSP00000187397:N706D	N	+	1	0	ARPP21	35808961	1.000000	0.71417	0.671000	0.29857	0.696000	0.40369	2.078000	0.41567	0.438000	0.26450	-0.256000	0.11100	AAT		0.463	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
MLH1	4292	hgsc.bcm.edu	37	3	37053326	37053326	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:37053326T>C	ENST00000231790.2	+	7	777	c.561T>C	c.(559-561)aaT>aaC	p.N187N	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Silent_p.N89N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	187					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CAGTACACAATGCAGGCATTA	0.328		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	3											184.0	200.0	195.0					3																	37053326		2203	4300	6503	37028330	SO:0001819	synonymous_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.561T>C	3.37:g.37053326T>C			37028330	B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	T	9.070	0.996756	0.19043	.	.	ENSG00000076242	ENST00000456676	.	.	.	6.08	1.27	0.21489	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50440	-0.8828	4	.	.	.	-28.5752	8.9174	0.35590	0.0:0.4005:0.0:0.5995	.	.	.	.	T	179	.	.	M	+	2	0	MLH1	37028330	0.662000	0.27439	1.000000	0.80357	0.892000	0.51952	-0.205000	0.09411	0.547000	0.28938	0.533000	0.62120	ATG		0.328	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266679	41266679	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:41266679T>C	ENST00000349496.5	+	4	756	c.476T>C	c.(475-477)cTg>cCg	p.L159P	CTNNB1_ENST00000396183.3_Missense_Mutation_p.L159P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L159P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.L152P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.L159P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	159	Interaction with BCL9.				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.M1_V173del(1)|p.I35_K170del(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)		CTGACAAAACTGCTAAATGAC	0.413		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"""	2	Deletion - In frame(2)	liver(1)|skin(1)	3											121.0	113.0	116.0					3																	41266679		2203	4300	6503	41241683	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.476T>C	3.37:g.41266679T>C	ENSP00000344456:p.Leu159Pro		41241683	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670370	0.67814	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.83363	0.0003	10	0.87932	D	0	-18.4809	15.971	0.80019	0.0:0.0:0.0:1.0	.	87;159	B4DSW9;P35222	.;CTNB1_HUMAN	P	159;159;159;152;159	ENSP00000385604:L159P;ENSP00000379486:L159P;ENSP00000344456:L159P;ENSP00000411226:L152P;ENSP00000379488:L159P	ENSP00000344456:L159P	L	+	2	0	CTNNB1	41241683	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.175000	0.68902	0.533000	0.62120	CTG		0.413	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
ROBO2	6092	hgsc.bcm.edu	37	3	77147195	77147195	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:77147195C>T	ENST00000461745.1	+	2	992	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P31L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P47L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	31	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACTTTCCCCCGCGGATTGTG	0.537																																																	0			3											45.0	48.0	47.0					3																	77147195		1943	4128	6071	77229885	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.92C>T	3.37:g.77147195C>T	ENSP00000417164:p.Pro31Leu		77229885	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694194	0.68386	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64803	-0.12;-0.12;-0.12	5.12	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38605	U	0.001631	D	0.84938	0.5583	M	0.93462	3.42	0.48830	D	0.999710	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89231	0.3577	9	0.87932	D	0	.	18.541	0.91027	0.0:1.0:0.0:0.0	.	47;31;31	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	47;47;47;31;31	ENSP00000417335:P47L;ENSP00000417164:P31L;ENSP00000327536:P31L	ENSP00000327536:P31L	P	+	2	0	ROBO2	77229885	1.000000	0.71417	0.872000	0.34217	0.017000	0.09413	7.814000	0.86154	2.360000	0.80028	0.655000	0.94253	CCG		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	hgsc.bcm.edu	37	3	78987978	78987978	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:78987978G>C	ENST00000464233.1	-	4	385	c.272C>G	c.(271-273)gCt>gGt	p.A91G	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000467549.1_Missense_Mutation_p.A52G|ROBO1_ENST00000495273.1_Missense_Mutation_p.A52G|ROBO1_ENST00000436010.2_Missense_Mutation_p.A52G	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	91	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCGGCCTTCAGCTTTGCAGTT	0.517																																																	0			3											113.0	106.0	108.0					3																	78987978		1883	4120	6003	79070668	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.272C>G	3.37:g.78987978G>C	ENSP00000420321:p.Ala91Gly		79070668	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983488	0.93044	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.998	D;D;D;D	0.77004	0.984;0.989;0.977;0.961	D	0.86084	0.1546	9	.	.	.	.	19.4697	0.94958	0.0:0.0:1.0:0.0	.	91;52;52;52	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	G	52;52;91;52;52;91	ENSP00000406043:A52G;ENSP00000420321:A91G;ENSP00000420637:A52G;ENSP00000417992:A52G	.	A	-	2	0	ROBO1	79070668	1.000000	0.71417	0.976000	0.42696	0.894000	0.52154	9.835000	0.99442	2.611000	0.88343	0.462000	0.41574	GCT		0.517	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
PLCXD2	257068	hgsc.bcm.edu	37	3	111432929	111432929	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:111432929A>G	ENST00000477665.1	+	3	1144	c.820A>G	c.(820-822)Att>Gtt	p.I274V	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000393934.3_Missense_Mutation_p.I274V	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	274					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGTGAAGACCATTGCCCGGGG	0.517																																																	0			3											40.0	40.0	40.0					3																	111432929		2203	4300	6503	112915619	SO:0001583	missense	257068			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.820A>G	3.37:g.111432929A>G	ENSP00000420686:p.Ile274Val		112915619	Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	A	4.927	0.172253	0.09391	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.5	5.5	0.81552	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.39489	0.1080	N	0.21617	0.685	0.52099	D	0.99994	B;B	0.30236	0.274;0.202	B;B	0.22386	0.026;0.039	T	0.29336	-1.0015	8	0.12103	T	0.63	-19.0346	13.5883	0.61944	1.0:0.0:0.0:0.0	.	274;274	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	V	274	.	ENSP00000377511:I274V	I	+	1	0	PLCXD2	112915619	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.819000	0.62664	2.090000	0.63153	0.460000	0.39030	ATT		0.517	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	
SLC9C1	285335	hgsc.bcm.edu	37	3	111988836	111988836	+	Missense_Mutation	SNP	C	C	T	rs371705215		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:111988836C>T	ENST00000305815.5	-	7	954	c.702G>A	c.(700-702)atG>atA	p.M234I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M234I	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	234					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAACAGTTGACATCCAAAATT	0.328																																																	0			3						C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	68.0	73.0	71.0		702	0.7	0.1	3		71	0,8590		0,0,4295	no	missense	SLC9A10	NM_183061.1	10	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	234/1178	111988836	1,12995	2203	4295	6498	113471526	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.702G>A	3.37:g.111988836C>T	ENSP00000306627:p.Met234Ile		113471526	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262464	0.23051	2.27E-4	0.0	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.10668	2.85;2.85	5.9	0.686	0.18015	Cation/H+ exchanger (1);	0.307176	0.30940	N	0.008575	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	0.999996	P;P	0.40144	0.539;0.704	B;B	0.39217	0.195;0.294	T	0.21655	-1.0239	10	0.25751	T	0.34	-16.2819	1.7336	0.02937	0.3004:0.4079:0.1335:0.1582	.	234;234	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	I	234	ENSP00000306627:M234I;ENSP00000420688:M234I	ENSP00000306627:M234I	M	-	3	0	SLC9A10	113471526	0.094000	0.21725	0.134000	0.22075	0.382000	0.30200	0.186000	0.16978	0.086000	0.17137	0.505000	0.49811	ATG		0.328	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
TOPBP1	11073	hgsc.bcm.edu	37	3	133356882	133356882	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:133356882A>G	ENST00000260810.5	-	14	2489	c.2358T>C	c.(2356-2358)ttT>ttC	p.F786F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	786					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTTACTCTGAAAGCGGTTCA	0.493								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0			3											262.0	262.0	262.0					3																	133356882		1994	4165	6159	134839572	SO:0001819	synonymous_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2358T>C	3.37:g.133356882A>G			134839572	B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	CCDS46919.1																																																																																				0.493	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
MSL2	55167	hgsc.bcm.edu	37	3	135871147	135871147	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:135871147A>G	ENST00000309993.2	-	2	1308	c.576T>C	c.(574-576)aaT>aaC	p.N192N	MSL2_ENST00000434835.2_Silent_p.N118N	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	192					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TAGGCAAACCATTGATAACAG	0.378																																																	0			3											64.0	64.0	64.0					3																	135871147		2203	4300	6503	137353837	SO:0001819	synonymous_variant	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.576T>C	3.37:g.135871147A>G			137353837	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	CCDS33861.1																																																																																				0.378	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
COPB2	9276	hgsc.bcm.edu	37	3	139077104	139077104	+	Missense_Mutation	SNP	C	C	A	rs560518160		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:139077104C>A	ENST00000333188.5	-	21	2744	c.2563G>T	c.(2563-2565)Ggg>Tgg	p.G855W	COPB2_ENST00000507777.1_Missense_Mutation_p.G826W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	855					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)	structural molecule activity (GO:0005198)	p.G855R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAGGTTTCCCATCAAGTTCC	0.433																																																	1	Substitution - Missense(1)	ovary(1)	3											110.0	96.0	100.0					3																	139077104		2203	4300	6503	140559794	SO:0001583	missense	9276			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2563G>T	3.37:g.139077104C>A	ENSP00000329419:p.Gly855Trp		140559794	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.338314|2.338314	0.41398|0.41398	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000333188;ENST00000507777|ENST00000503326	T;T|.	0.62941|.	-0.01;0.1|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.717399|.	0.13055|.	N|.	0.417385|.	T|T	0.41259|0.41259	0.1151|0.1151	N|N	0.24115|0.24115	0.695|0.695	0.31506|0.31506	N|N	0.664213|0.664213	B|.	0.26147|.	0.143|.	B|.	0.23852|.	0.049|.	T|T	0.43015|0.43015	-0.9417|-0.9417	10|5	0.72032|.	D|.	0.01|.	-21.3713|-21.3713	13.8059|13.8059	0.63230|0.63230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	855|.	P35606|.	COPB2_HUMAN|.	W|L	855;826|68	ENSP00000329419:G855W;ENSP00000422295:G826W|.	ENSP00000329419:G855W|.	G|W	-|-	1|2	0|0	COPB2|COPB2	140559794|140559794	0.797000|0.797000	0.28877|0.28877	0.936000|0.936000	0.37596|0.37596	0.765000|0.765000	0.43378|0.43378	3.232000|3.232000	0.51302|0.51302	2.634000|2.634000	0.89283|0.89283	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.433	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
PCOLCE2	26577	hgsc.bcm.edu	37	3	142561849	142561849	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:142561849A>G	ENST00000295992.3	-	4	796	c.490T>C	c.(490-492)Tct>Cct	p.S164P	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S164P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTTTAAAAGAGCCGGAAGGT	0.473																																																	0			3											82.0	84.0	83.0					3																	142561849		2203	4300	6503	144044539	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.490T>C	3.37:g.142561849A>G	ENSP00000295992:p.Ser164Pro		144044539	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329004	0.24167	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.29655	1.56;1.56	5.22	4.02	0.46733	CUB (5);	0.274051	0.42420	D	0.000709	T	0.42494	0.1205	L	0.52266	1.64	0.34220	D	0.675348	P	0.50272	0.933	P	0.57009	0.811	T	0.57837	-0.7742	10	0.66056	D	0.02	-24.3321	11.2896	0.49241	0.8633:0.0:0.0:0.1367	.	164	Q9UKZ9	PCOC2_HUMAN	P	164	ENSP00000295992:S164P;ENSP00000419842:S164P	ENSP00000295992:S164P	S	-	1	0	PCOLCE2	144044539	1.000000	0.71417	0.977000	0.42913	0.057000	0.15508	4.525000	0.60559	0.951000	0.37770	0.454000	0.30748	TCT		0.473	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
SIAH2	6478	hgsc.bcm.edu	37	3	150460047	150460047	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:150460047C>T	ENST00000312960.3	-	2	1383	c.856G>A	c.(856-858)Ggt>Agt	p.G286S		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	286	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G286S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAGCCACACCGTCATGAATC	0.527																																																	1	Substitution - Missense(1)	ovary(1)	3											90.0	74.0	80.0					3																	150460047		2203	4300	6503	151942737	SO:0001583	missense	6478			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.856G>A	3.37:g.150460047C>T	ENSP00000322457:p.Gly286Ser		151942737	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529817	0.64860	.	.	ENSG00000181788	ENST00000312960	T	0.24723	1.84	5.81	4.94	0.65067	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	L	0.35793	1.09	0.80722	D	1	D	0.54601	0.967	P	0.47402	0.546	T	0.03025	-1.1081	10	0.05620	T	0.96	.	14.874	0.70481	0.0:0.9315:0.0:0.0685	.	286	O43255	SIAH2_HUMAN	S	286	ENSP00000322457:G286S	ENSP00000322457:G286S	G	-	1	0	SIAH2	151942737	1.000000	0.71417	0.896000	0.35187	0.390000	0.30446	7.802000	0.85969	1.468000	0.48064	-0.229000	0.12294	GGT		0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
PIK3CA	5290	hgsc.bcm.edu	37	3	178938860	178938860	+	Missense_Mutation	SNP	A	A	G	rs121913282		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:178938860A>G	ENST00000263967.3	+	14	2259	c.2102A>G	c.(2101-2103)cAc>cGc	p.H701R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	701					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H701P(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TATTTGAAGCACCTGAATAGG	0.418		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	breast(2)|central_nervous_system(1)	3											75.0	67.0	69.0					3																	178938860		1876	4094	5970	180421554	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2102A>G	3.37:g.178938860A>G	ENSP00000263967:p.His701Arg		180421554	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662705	0.47572	.	.	ENSG00000121879	ENST00000263967	T	0.62639	0.01	5.41	5.41	0.78517	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.44542	1.39	0.80722	D	1	P	0.37955	0.612	B	0.38264	0.269	T	0.52298	-0.8594	10	0.19590	T	0.45	-12.0205	15.4463	0.75232	1.0:0.0:0.0:0.0	.	701	P42336	PK3CA_HUMAN	R	701	ENSP00000263967:H701R	ENSP00000263967:H701R	H	+	2	0	PIK3CA	180421554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.052000	0.61016	0.528000	0.53228	CAC		0.418	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
DGKG	1608	hgsc.bcm.edu	37	3	186024720	186024720	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:186024720A>G	ENST00000265022.3	-	3	653	c.114T>C	c.(112-114)ggT>ggC	p.G38G	DGKG_ENST00000544847.1_Silent_p.G38G|DGKG_ENST00000344484.4_Silent_p.G38G|DGKG_ENST00000382164.4_Silent_p.G38G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	38					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGAGGCTCCCACCCTCATTAA	0.388																																																	0			3											155.0	152.0	153.0					3																	186024720		2203	4300	6503	187507414	SO:0001819	synonymous_variant	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.114T>C	3.37:g.186024720A>G			187507414	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																				0.388	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
HEBP1	50865	hgsc.bcm.edu	37	12	13128389	13128389	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:13128389T>G	ENST00000014930.4	-	4	581	c.423A>C	c.(421-423)gaA>gaC	p.E141D	RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	141					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CGTAGTCTGCTTCCTTGGCAT	0.562																																																	0			12											78.0	58.0	65.0					12																	13128389		2203	4300	6503	13019656	SO:0001583	missense	50865			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.423A>C	12.37:g.13128389T>G	ENSP00000014930:p.Glu141Asp		13019656	A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204962	0.58234	.	.	ENSG00000013583	ENST00000014930	T	0.23552	1.9	4.64	2.26	0.28386	Regulatory factor, effector, bacterial (1);	0.047689	0.85682	D	0.000000	T	0.25269	0.0614	L	0.47716	1.5	0.80722	D	1	P	0.36354	0.549	P	0.47891	0.56	T	0.12993	-1.0526	10	0.02654	T	1	-16.7636	8.3275	0.32167	0.0:0.1675:0.0:0.8325	.	141	Q9NRV9	HEBP1_HUMAN	D	141	ENSP00000014930:E141D	ENSP00000014930:E141D	E	-	3	2	HEBP1	13019656	1.000000	0.71417	0.969000	0.41365	0.950000	0.60333	1.247000	0.32815	0.377000	0.24735	0.460000	0.39030	GAA		0.562	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1		
PTHLH	5744	hgsc.bcm.edu	37	12	28116381	28116381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:28116381G>A	ENST00000545234.1	-	5	964	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PTHLH_ENST00000395868.3_Nonsense_Mutation_p.R142*|PTHLH_ENST00000535992.1_Nonsense_Mutation_p.R142*|PTHLH_ENST00000201015.4_Nonsense_Mutation_p.R142*|PTHLH_ENST00000395872.1_Nonsense_Mutation_p.R142*|PTHLH_ENST00000538310.1_Nonsense_Mutation_p.R142*|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Nonsense_Mutation_p.R142*|PTHLH_ENST00000539239.1_Nonsense_Mutation_p.R142*			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GAGCGAGTTCGCCGTTTTTTC	0.547																																																	0			12											174.0	151.0	159.0					12																	28116381		2203	4300	6503	28007648	SO:0001587	stop_gained	5744				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.424C>T	12.37:g.28116381G>A	ENSP00000441765:p.Arg142*		28007648	Q15251|Q6FH74	Nonsense_Mutation	SNP	ENST00000545234.1	37	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	G	37	6.489895	0.97607	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963	.	.	.	5.63	1.32	0.21799	.	0.059542	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6815	14.4297	0.67240	0.0:0.0:0.4939:0.5061	.	.	.	.	X	142	.	ENSP00000201015:R142X	R	-	1	2	PTHLH	28007648	0.991000	0.36638	0.873000	0.34254	0.994000	0.84299	0.449000	0.21744	0.251000	0.21505	0.591000	0.81541	CGA		0.547	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965	
KIF21A	55605	hgsc.bcm.edu	37	12	39695439	39695439	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:39695439C>T	ENST00000361418.5	-	37	4789	c.4774G>A	c.(4774-4776)Gtg>Atg	p.V1592M	KIF21A_ENST00000541463.2_Missense_Mutation_p.V1539M|KIF21A_ENST00000395670.3_Missense_Mutation_p.V1593M|KIF21A_ENST00000544797.2_Missense_Mutation_p.V1555M|KIF21A_ENST00000361961.3_Missense_Mutation_p.V1579M			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1592					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTGGCACCACTCCCAGGGCA	0.463																																																	0			12											132.0	137.0	135.0					12																	39695439		2203	4300	6503	37981706	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4774G>A	12.37:g.39695439C>T	ENSP00000354878:p.Val1592Met		37981706	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431488	0.25813	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.43	-1.12	0.09808	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.919587	0.09011	N	0.861562	T	0.45438	0.1342	L	0.55990	1.75	0.09310	N	1	B;B;B;B;B;B	0.20052	0.001;0.0;0.003;0.0;0.009;0.041	B;B;B;B;B;B	0.26202	0.005;0.004;0.038;0.002;0.013;0.067	T	0.42258	-0.9462	10	0.35671	T	0.21	.	0.4703	0.00530	0.2284:0.1986:0.3043:0.2688	.	1555;1539;1592;1579;1545;579	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	M	1579;1593;1545;579;573;1555;1592;1539	ENSP00000354851:V1579M;ENSP00000379029:V1593M;ENSP00000448792:V573M;ENSP00000445606:V1555M;ENSP00000354878:V1592M;ENSP00000438075:V1539M	ENSP00000344501:V1545M	V	-	1	0	KIF21A	37981706	0.000000	0.05858	0.968000	0.41197	0.934000	0.57294	-0.177000	0.09796	-0.090000	0.12462	0.650000	0.86243	GTG		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ARID2	196528	hgsc.bcm.edu	37	12	46244130	46244130	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:46244130T>C	ENST00000334344.6	+	15	2396	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ARID2_ENST00000444670.1_Missense_Mutation_p.S352P|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S593P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	742					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCACAGAGTTCTGTTGTTCA	0.438			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			12											87.0	87.0	87.0					12																	46244130		2203	4300	6503	44530397	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2224T>C	12.37:g.46244130T>C	ENSP00000335044:p.Ser742Pro		44530397	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698247	0.30142	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.36520	1.25	5.97	4.83	0.62350	.	0.294458	0.39146	N	0.001459	T	0.20373	0.0490	N	0.19112	0.55	0.80722	D	1	B;B;B	0.13145	0.003;0.001;0.007	B;B;B	0.11329	0.006;0.004;0.004	T	0.07233	-1.0783	10	0.02654	T	1	-9.5181	11.7793	0.52003	0.0:0.0682:0.0:0.9318	.	742;352;742	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	P	742;593;352	ENSP00000335044:S742P	ENSP00000335044:S742P	S	+	1	0	ARID2	44530397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.430000	0.52807	1.092000	0.41356	0.533000	0.62120	TCT		0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
KMT2D	8085	hgsc.bcm.edu	37	12	49427582	49427582	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:49427582G>A	ENST00000301067.7	-	39	10905	c.10906C>T	c.(10906-10908)Ctc>Ttc	p.L3636F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3636	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGCCAGGGAGCAGCTGACCA	0.662																																																	0			12											11.0	14.0	13.0					12																	49427582		2142	4255	6397	47713849	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10906C>T	12.37:g.49427582G>A	ENSP00000301067:p.Leu3636Phe		47713849	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957598	0.18507	.	.	ENSG00000167548	ENST00000301067	T	0.80653	-1.4	5.34	4.44	0.53790	.	0.000000	0.33127	N	0.005244	T	0.65217	0.2670	N	0.08118	0	0.24499	N	0.994261	P	0.44627	0.839	B	0.41236	0.351	T	0.63198	-0.6691	10	0.87932	D	0	.	12.556	0.56254	0.0:0.0:0.698:0.302	.	3636	O14686	MLL2_HUMAN	F	3636	ENSP00000301067:L3636F	ENSP00000301067:L3636F	L	-	1	0	MLL2	47713849	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.128000	0.50492	1.380000	0.46344	0.563000	0.77884	CTC		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT73	319101	hgsc.bcm.edu	37	12	53012172	53012172	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:53012172C>T	ENST00000305748.3	-	1	171	c.137G>A	c.(136-138)cGg>cAg	p.R46Q		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	46	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R46Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTAAAGGCTCCGACTGCTGAA	0.662																																																	1	Substitution - Missense(1)	endometrium(1)	12											53.0	62.0	59.0					12																	53012172		2203	4299	6502	51298439	SO:0001583	missense	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.137G>A	12.37:g.53012172C>T	ENSP00000307014:p.Arg46Gln		51298439	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129233	0.37533	.	.	ENSG00000186049	ENST00000305748	T	0.75260	-0.92	4.64	2.8	0.32819	.	0.137789	0.33040	N	0.005355	T	0.74366	0.3707	M	0.84846	2.72	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.67515	-0.5651	10	0.54805	T	0.06	.	10.0316	0.42103	0.0:0.7116:0.0:0.2884	.	46	Q86Y46	K2C73_HUMAN	Q	46	ENSP00000307014:R46Q	ENSP00000307014:R46Q	R	-	2	0	KRT73	51298439	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	-0.446000	0.06837	0.645000	0.30675	-0.126000	0.14955	CGG		0.662	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
LRIG3	121227	hgsc.bcm.edu	37	12	59270243	59270243	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:59270243T>C	ENST00000320743.3	-	16	2965	c.2679A>G	c.(2677-2679)ccA>ccG	p.P893P	LRIG3_ENST00000379141.4_Silent_p.P833P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	893					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTCATGTTGTGGTAAGAAAA	0.423			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0			12											101.0	89.0	93.0					12																	59270243		2203	4300	6503	57556510	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2679A>G	12.37:g.59270243T>C			57556510	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
CRY1	1407	hgsc.bcm.edu	37	12	107395140	107395140	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:107395140T>C	ENST00000008527.5	-	5	1469	c.602A>G	c.(601-603)gAt>gGt	p.D201G		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	201					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCCATCTGTATCAAAACCTAC	0.343																																																	0			12											86.0	89.0	88.0					12																	107395140		2203	4300	6503	105919270	SO:0001583	missense	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.602A>G	12.37:g.107395140T>C	ENSP00000008527:p.Asp201Gly		105919270		Missense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360076	0.61403	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.72	5.72	0.89469	DNA photolyase, N-terminal (1);	0.043473	0.85682	D	0.000000	T	0.70815	0.3267	M	0.85299	2.745	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.68078	-0.5504	9	0.34782	T	0.22	-24.6757	15.9922	0.80214	0.0:0.0:0.0:1.0	.	201	Q16526	CRY1_HUMAN	G	201	.	ENSP00000008527:D201G	D	-	2	0	CRY1	105919270	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.102000	0.57776	2.176000	0.68965	0.455000	0.32223	GAT		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
MLEC	9761	hgsc.bcm.edu	37	12	121132653	121132653	+	Silent	SNP	C	C	T	rs368412650	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:121132653C>T	ENST00000228506.3	+	3	869	c.441C>T	c.(439-441)caC>caT	p.H147H	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	147					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGAATGGCCACGTCGTGGTGA	0.428													C|||	10	0.00199681	0.0	0.0	5008	,	,		23550	0.003		0.0	False		,,,				2504	0.0072																0			12						C		0,4406		0,0,2203	223.0	202.0	209.0		441	-7.7	0.3	12		209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLEC	NM_014730.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		147/293	121132653	1,13005	2203	4300	6503	119617036	SO:0001819	synonymous_variant	9761			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.441C>T	12.37:g.121132653C>T			119617036		Silent	SNP	ENST00000228506.3	37	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759301	0.15846	0.0	1.16E-4	ENSG00000110917	ENST00000535656	.	.	.	5.5	-7.67	0.01272	.	.	.	.	.	T	0.72969	0.3527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74937	-0.3494	4	.	.	.	.	22.1983	0.99968	0.0:0.7455:0.0:0.2545	.	.	.	.	C	44	.	.	R	+	1	0	MLEC	119617036	0.007000	0.16637	0.343000	0.25615	0.996000	0.88848	-1.053000	0.03500	-1.442000	0.01955	-0.238000	0.12139	CGT		0.428	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730	
GABRA5	2558	hgsc.bcm.edu	37	15	27182372	27182372	+	Silent	SNP	C	C	T	rs200310381		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:27182372C>T	ENST00000335625.5	+	8	1509	c.621C>T	c.(619-621)aaC>aaT	p.N207N	GABRA5_ENST00000355395.5_Silent_p.N207N|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.N207N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	207					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCTGGACCAACGGCTCCACCA	0.532																																																	0			15						C	,	1,4015		0,1,2007	120.0	121.0	121.0		621,621	-8.9	0.3	15		121	1,8359		0,1,4179	no	coding-synonymous,coding-synonymous	GABRA5	NM_000810.3,NM_001165037.1	,	0,2,6186	TT,TC,CC		0.012,0.0249,0.0162	,	207/463,207/463	27182372	2,12374	2008	4180	6188	24765118	SO:0001819	synonymous_variant	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.621C>T	15.37:g.27182372C>T			24765118	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																				0.532	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
PLCB2	5330	hgsc.bcm.edu	37	15	40581105	40581105	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:40581105C>T	ENST00000260402.3	-	32	3618	c.3369G>A	c.(3367-3369)gcG>gcA	p.A1123A	PLCB2_ENST00000557821.1_Silent_p.A1119A|PLCB2_ENST00000456256.2_Silent_p.A1108A	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1123					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTCTGCCAGCGCCTCCTTCT	0.647																																																	0			15											46.0	51.0	49.0					15																	40581105		2014	4182	6196	38368397	SO:0001819	synonymous_variant	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3369G>A	15.37:g.40581105C>T			38368397	A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	CCDS42020.1																																																																																				0.647	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
BAHD1	22893	hgsc.bcm.edu	37	15	40751724	40751724	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:40751724C>T	ENST00000416165.1	+	2	1132	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	BAHD1_ENST00000560846.1_Missense_Mutation_p.P354L|BAHD1_ENST00000561234.1_Missense_Mutation_p.P354L	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	354	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCTGTCGCCGCTGCCGATG	0.647																																																	0			15											57.0	59.0	58.0					15																	40751724		2203	4300	6503	38539016	SO:0001583	missense	22893			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1061C>T	15.37:g.40751724C>T	ENSP00000396976:p.Pro354Leu		38539016	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831755	0.32421	.	.	ENSG00000140320	ENST00000416165	T	0.61392	0.11	5.97	3.99	0.46301	.	0.200830	0.43579	N	0.000560	T	0.33702	0.0872	N	0.24115	0.695	0.49389	D	0.999781	B;B;B	0.26081	0.141;0.087;0.141	B;B;B	0.19391	0.025;0.011;0.025	T	0.13764	-1.0497	10	0.05721	T	0.95	-8.0927	6.7758	0.23619	0.1387:0.7069:0.0:0.1543	.	354;354;354	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	L	354	ENSP00000396976:P354L	ENSP00000396976:P354L	P	+	2	0	BAHD1	38539016	0.634000	0.27190	0.404000	0.26397	0.848000	0.48234	2.736000	0.47385	0.756000	0.33013	0.655000	0.94253	CCG		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
VPS39	23339	hgsc.bcm.edu	37	15	42479475	42479475	+	Silent	SNP	T	T	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:42479475T>G	ENST00000348544.4	-	8	560	c.561A>C	c.(559-561)ctA>ctC	p.L187L	VPS39_ENST00000318006.5_Silent_p.L176L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	187	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTACCCTTATTAGGTAGTAGT	0.403																																																	0			15											64.0	63.0	63.0					15																	42479475		2203	4299	6502	40266767	SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.561A>C	15.37:g.42479475T>G			40266767	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																				0.403	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
CCNDBP1	23582	hgsc.bcm.edu	37	15	43482525	43482525	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:43482525C>T	ENST00000300213.4	+	6	673	c.431C>T	c.(430-432)cCt>cTt	p.P144L	CCNDBP1_ENST00000356633.5_5'UTR|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	144	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		TTCCCCAGCCCTGAGAACAAT	0.463																																																	0			15											86.0	81.0	83.0					15																	43482525		2203	4299	6502	41269817	SO:0001583	missense	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.431C>T	15.37:g.43482525C>T	ENSP00000300213:p.Pro144Leu		41269817	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP	ENST00000300213.4	37	CCDS10092.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502808	0.44558	.	.	ENSG00000166946	ENST00000300213;ENST00000444658	T	0.39997	1.05	5.32	3.31	0.37934	.	0.688366	0.14692	N	0.304139	T	0.21509	0.0518	N	0.10916	0.065	0.35430	D	0.793936	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.003;0.005;0.003	T	0.16928	-1.0386	10	0.27785	T	0.31	-4.2758	6.694	0.23189	0.0:0.7882:0.0:0.2118	.	144;144;16	O95273-2;O95273;O95273-4	.;CCDB1_HUMAN;.	L	144;16	ENSP00000300213:P144L	ENSP00000300213:P144L	P	+	2	0	CCNDBP1	41269817	0.034000	0.19679	0.550000	0.28217	0.987000	0.75469	0.969000	0.29370	1.471000	0.48121	0.655000	0.94253	CCT		0.463	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142	
MYO5A	4644	hgsc.bcm.edu	37	15	52652178	52652178	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:52652178G>T	ENST00000399231.3	-	25	3653	c.3410C>A	c.(3409-3411)cCa>cAa	p.P1137Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.P1137Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1137Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1137Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.P1137Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1137					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)		TGTCCTTGATGGAATGTCTTC	0.428																																																	0			15											84.0	80.0	81.0					15																	52652178		1946	4152	6098	50439470	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.3410C>A	15.37:g.52652178G>T	ENSP00000382177:p.Pro1137Gln		50439470	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561554	0.13498	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.78	4.87	0.63330	.	0.163360	0.56097	D	0.000026	T	0.08223	0.0205	N	0.08118	0	0.34789	D	0.735544	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.23797	-1.0178	10	0.12430	T	0.62	.	10.4938	0.44766	0.0688:0.0:0.7977:0.1334	.	1137;1137	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	Q	1137;671;1137;1137;1137;767;1137	ENSP00000382177:P1137Q;ENSP00000382179:P1137Q;ENSP00000348693:P1137Q;ENSP00000350945:P1137Q;ENSP00000451109:P1137Q	ENSP00000348693:P1137Q	P	-	2	0	MYO5A	50439470	0.994000	0.37717	0.168000	0.22838	0.168000	0.22595	2.450000	0.44943	1.451000	0.47736	-0.140000	0.14226	CCA		0.428	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
CIB1	10519	hgsc.bcm.edu	37	15	90771850	90771850	+	IGR	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:90771850C>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Missense_Mutation_p.S830L|SEMA4B_ENST00000411539.2_Missense_Mutation_p.S830L|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGCCTTGGCTCGGAGATCCGT	0.622																																																	1	Deletion - Frameshift(1)	breast(1)	15											34.0	40.0	38.0					15																	90771850		2142	4230	6372	88572854	SO:0001628	intergenic_variant	10509			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771850C>T			88572854	B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866063	0.71949	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.29917	1.55;1.55	4.57	4.57	0.56435	.	0.300840	0.33023	N	0.005367	T	0.45895	0.1365	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.47661	-0.9100	10	0.87932	D	0	.	16.856	0.86006	0.0:1.0:0.0:0.0	.	830;825	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	L	830	ENSP00000332204:S830L;ENSP00000394720:S830L	ENSP00000332204:S830L	S	+	2	0	SEMA4B	88572854	1.000000	0.71417	0.968000	0.41197	0.251000	0.25915	6.964000	0.76061	2.522000	0.85027	0.561000	0.74099	TCG		0.622	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1		
ZNF157	7712	hgsc.bcm.edu	37	X	47272000	47272000	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:47272000C>A	ENST00000377073.3	+	4	614	c.528C>A	c.(526-528)aaC>aaA	p.N176K		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	176					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGAAGTCAAACCTTGTTGAAC	0.408																																																	0			X											74.0	63.0	66.0					X																	47272000		2203	4300	6503	47156944	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.528C>A	X.37:g.47272000C>A	ENSP00000366273:p.Asn176Lys		47156944	Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336139	0.05278	.	.	ENSG00000147117	ENST00000377073	T	0.07021	3.23	2.85	-2.77	0.05877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	L	0.36672	1.1	0.09310	N	1	D	0.53885	0.963	P	0.48368	0.575	T	0.25433	-1.0132	9	0.21540	T	0.41	.	8.9618	0.35851	0.0:0.4637:0.0:0.5363	.	176	P51786	ZN157_HUMAN	K	176	ENSP00000366273:N176K	ENSP00000366273:N176K	N	+	3	2	ZNF157	47156944	0.000000	0.05858	0.002000	0.10522	0.877000	0.50540	-0.652000	0.05366	-0.978000	0.03533	0.462000	0.41574	AAC		0.408	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
FGD1	2245	hgsc.bcm.edu	37	X	54472704	54472704	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:54472704T>C	ENST00000375135.3	-	18	3457	c.2724A>G	c.(2722-2724)ctA>ctG	p.L908L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	908	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCGTCGCTGTAGTTCCTCTG	0.657																																																	0			X											52.0	40.0	44.0					X																	54472704		2203	4300	6503	54489429	SO:0001819	synonymous_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2724A>G	X.37:g.54472704T>C			54489429	Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	CCDS14359.1																																																																																				0.657	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
USP51	158880	hgsc.bcm.edu	37	X	55514071	55514071	+	Silent	SNP	C	C	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:55514071C>G	ENST00000500968.3	-	2	1384	c.1302G>C	c.(1300-1302)ctG>ctC	p.L434L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	434	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGATCCATATCAGATGCAGTA	0.458																																																	0			X											77.0	67.0	71.0					X																	55514071		2203	4300	6503	55530796	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1302G>C	X.37:g.55514071C>G			55530796	Q8IWJ8	Silent	SNP	ENST00000500968.3	37	CCDS14370.1																																																																																				0.458	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
USP51	158880	hgsc.bcm.edu	37	X	55514076	55514076	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:55514076G>T	ENST00000500968.3	-	2	1379	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	433	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATATCAGATGCAGTAACTTA	0.453																																																	0			X											77.0	67.0	70.0					X																	55514076		2203	4300	6503	55530801	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1297C>A	X.37:g.55514076G>T	ENSP00000423333:p.His433Asn		55530801	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.996398	0.54147	.	.	ENSG00000247746	ENST00000500968	T	0.27256	1.68	3.04	3.04	0.35103	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.29158	0.0725	L	0.31578	0.945	0.80722	D	1	P	0.46395	0.877	P	0.54664	0.758	T	0.02437	-1.1159	10	0.40728	T	0.16	.	11.3014	0.49309	0.0:0.0:1.0:0.0	.	433	Q70EK9	UBP51_HUMAN	N	433	ENSP00000423333:H433N	ENSP00000423333:H433N	H	-	1	0	USP51	55530801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.709000	0.84645	1.796000	0.52611	0.508000	0.49915	CAT		0.453	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
PCDH11X	27328	hgsc.bcm.edu	37	X	91873533	91873533	+	Missense_Mutation	SNP	C	C	T	rs140768648	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:91873533C>T	ENST00000373094.1	+	7	4483	c.3638C>T	c.(3637-3639)cCg>cTg	p.P1213L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1203L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1176L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1205L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1176L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1195L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGCCCACCACCGATACAGGTG	0.597													C|||	28	0.00741722	0.0	0.0014	3775	,	,		14482	0.0258		0.0	False		,,,				2504	0.001				NSCLC(38;925 1092 2571 38200 45895)												0			X						C	LEU/PRO,,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	6,3829		0,4,2,1628,569	173.0	136.0	148.0		3614,,3527,3584,3638,3608	1.4	0.0	X	dbSNP_134	148	1,6723		0,0,1,2426,1871	no	missense,utr-3,missense,missense,missense,missense	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_032968.3,NM_032969.3	98,,98,98,98,98	0,4,3,4054,2440	TT,TC,T,CC,C		0.0149,0.1565,0.0663	possibly-damaging,,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1205/1340,,1176/1311,1195/1330,1213/1348,1203/1338	91873533	7,10552	2203	4298	6501	91760189	SO:0001583	missense	83259			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3638C>T	X.37:g.91873533C>T	ENSP00000362186:p.Pro1213Leu		91760189	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	16	0.009644364074743821	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	C	7.533	0.659181	0.14645	0.001565	1.49E-4	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.47177	0.86;0.87;0.85;0.85;0.87;0.85	3.24	1.35	0.21983	.	.	.	.	.	T	0.10078	0.0247	N	0.19112	0.55	0.22401	N	0.999139	B;B;B;B;B	0.20780	0.048;0.048;0.048;0.048;0.028	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.006;0.003	T	0.12553	-1.0543	9	0.45353	T	0.12	.	2.3462	0.04272	0.245:0.4752:0.0:0.2798	.	1176;1195;1205;1203;1213	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1213;1203;1176;1195;1205;1213;1176	ENSP00000362186:P1213L;ENSP00000362189:P1203L;ENSP00000362180:P1176L;ENSP00000355105:P1195L;ENSP00000384758:P1205L;ENSP00000298274:P1176L	ENSP00000298274:P1176L	P	+	2	0	PCDH11X	91760189	0.000000	0.05858	0.038000	0.18304	0.001000	0.01503	-0.376000	0.07465	0.207000	0.20607	-0.412000	0.06146	CCG		0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
AMOT	154796	hgsc.bcm.edu	37	X	112022297	112022297	+	Missense_Mutation	SNP	C	C	G	rs373265985|rs147791784		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:112022297C>G	ENST00000524145.1	-	11	3159	c.3085G>C	c.(3085-3087)Gca>Cca	p.A1029P	AMOT_ENST00000371962.1_Missense_Mutation_p.A797P|AMOT_ENST00000304758.1_Missense_Mutation_p.A620P|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.A1029P			Q4VCS5	AMOT_HUMAN	angiomotin	1029					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCTGGACTTGCAGGAACCTCA	0.522																																																	0			X											110.0	101.0	104.0					X																	112022297		2203	4300	6503	111908953	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3085G>C	X.37:g.112022297C>G	ENSP00000429013:p.Ala1029Pro		111908953	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060096	0.36373	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.37915	1.17;1.95;2.19;1.95	4.28	3.41	0.39046	.	0.230125	0.33938	N	0.004418	T	0.20820	0.0501	N	0.19112	0.55	0.80722	D	1	B	0.32693	0.38	B	0.32533	0.147	T	0.05037	-1.0910	10	0.38643	T	0.18	-1.2273	6.5512	0.22436	0.207:0.5962:0.1968:0.0	.	1029	Q4VCS5	AMOT_HUMAN	P	620;1029;797;1029	ENSP00000305557:A620P;ENSP00000361027:A1029P;ENSP00000361030:A797P;ENSP00000429013:A1029P	ENSP00000305557:A620P	A	-	1	0	AMOT	111908953	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	1.000000	0.29770	1.143000	0.42306	0.529000	0.55759	GCA		0.522	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	
LONRF3	79836	hgsc.bcm.edu	37	X	118108844	118108844	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:118108844A>G	ENST00000371628.3	+	1	132	c.101A>G	c.(100-102)gAc>gGc	p.D34G	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Missense_Mutation_p.D34G	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	34							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCAAGTAGACATGGGCCCC	0.652																																																	0			X											21.0	19.0	20.0					X																	118108844		2197	4294	6491	117992872	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.101A>G	X.37:g.118108844A>G	ENSP00000360690:p.Asp34Gly		117992872	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	A	7.417	0.635942	0.14386	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	D;D;T	0.81908	-1.55;-1.55;-1.28	4.79	2.34	0.29019	.	0.899845	0.09331	N	0.816843	T	0.73776	0.3630	L	0.36672	1.1	0.19575	N	0.999968	B;B	0.26809	0.16;0.099	B;B	0.25291	0.059;0.027	T	0.64972	-0.6281	10	0.62326	D	0.03	-9.6208	5.965	0.19320	0.6135:0.2493:0.0:0.1372	.	34;34	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	G	34	ENSP00000360691:D34G;ENSP00000307732:D34G;ENSP00000360690:D34G	ENSP00000307732:D34G	D	+	2	0	LONRF3	117992872	0.001000	0.12720	0.004000	0.12327	0.020000	0.10135	0.864000	0.27926	1.774000	0.52232	0.430000	0.28490	GAC		0.652	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778	
UBE2A	7319	hgsc.bcm.edu	37	X	118716593	118716593	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:118716593G>A	ENST00000371558.2	+	5	458	c.284G>A	c.(283-285)cGt>cAt	p.R95H	UBE2A_ENST00000371569.5_Missense_Mutation_p.R20H|UBE2A_ENST00000346330.3_Missense_Mutation_p.R65H	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	95					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CTTCAGAACCGTTGGAGTCCA	0.338								Rad6 pathway																																									0			X											208.0	185.0	193.0					X																	118716593		2203	4300	6503	118600621	SO:0001583	missense	7319			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.284G>A	X.37:g.118716593G>A	ENSP00000360613:p.Arg95His		118600621	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345104	0.61073	.	.	ENSG00000077721	ENST00000371558;ENST00000346330;ENST00000371569	T;T;T	0.72505	-0.66;-0.66;-0.66	5.85	4.99	0.66335	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	L	0.52266	1.64	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.17098	0.017;0.009	T	0.62732	-0.6792	10	0.56958	D	0.05	-1.5311	13.1282	0.59368	0.078:0.0:0.922:0.0	.	65;95	A6NGR2;P49459	.;UBE2A_HUMAN	H	95;65;20	ENSP00000360613:R95H;ENSP00000335027:R65H;ENSP00000360624:R20H	ENSP00000335027:R65H	R	+	2	0	UBE2A	118600621	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	9.858000	0.99539	1.235000	0.43724	-0.192000	0.12808	CGT		0.338	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336	
ZNF75D	7626	hgsc.bcm.edu	37	X	134421516	134421516	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:134421516C>G	ENST00000370766.3	-	7	3795	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E267D	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	362					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAAAGGTTTCTCCCCTGTGG	0.418																																																	0			X											55.0	55.0	55.0					X																	134421516		2203	4298	6501	134249182	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1086G>C	X.37:g.134421516C>G	ENSP00000359802:p.Glu362Asp		134249182	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920730	0.33908	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.01034	5.42;5.42	3.1	2.21	0.28008	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.219586	0.23176	N	0.051069	T	0.01061	0.0035	L	0.35723	1.085	0.24988	N	0.99155	B;B	0.14438	0.01;0.01	B;B	0.21546	0.035;0.021	T	0.44097	-0.9350	10	0.45353	T	0.12	.	8.7237	0.34456	0.2277:0.7723:0.0:0.0	.	362;267	P51815;A6NK62	ZN75D_HUMAN;.	D	362;267	ENSP00000359802:E362D;ENSP00000359800:E267D	ENSP00000359800:E267D	E	-	3	2	ZNF75D	134249182	0.974000	0.33945	0.018000	0.16275	0.281000	0.26958	0.135000	0.15952	0.675000	0.31264	0.422000	0.28245	GAG		0.418	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
PLXNB3	5365	hgsc.bcm.edu	37	X	153032489	153032489	+	Silent	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:153032489C>A	ENST00000361971.5	+	3	321	c.207C>A	c.(205-207)ggC>ggA	p.G69G	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Silent_p.G92G|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	69	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTATGTCGGCGCAGTGAACC	0.642																																																	0			X											46.0	39.0	42.0					X																	153032489		2202	4300	6502	152685683	SO:0001819	synonymous_variant	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.207C>A	X.37:g.153032489C>A			152685683	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																				0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
TAZ	6901	hgsc.bcm.edu	37	X	153648064	153648064	+	Missense_Mutation	SNP	G	G	A	rs375663114		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:153648064G>A	ENST00000350743.4	+	6	761	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TAZ_ENST00000299328.5_Missense_Mutation_p.E188K|TAZ_ENST00000369776.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000475699.1_Missense_Mutation_p.E161K	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	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)					CATGAGTTCCGAATTCCTGCG	0.647																																																	0			X	GRCh37	CM022463	TAZ	M			LYS/GLU,LYS/GLU,,	1,3834		0,1,1631,571	82.0	69.0	73.0		562,472,,	5.0	0.9	X		73	0,6728		0,0,2428,1872	no	missense,missense,intron,intron	TAZ	NM_000116.3,NM_181311.2,NM_181312.2,NM_181313.2	56,56,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,,	188/293,158/263,,	153648064	1,10562	2203	4300	6503	153301258	SO:0001583	missense	25937			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.472G>A	X.37:g.153648064G>A	ENSP00000338891:p.Glu158Lys		153301258	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061804	0.76187	2.61E-4	0.0	ENSG00000102125	ENST00000299328;ENST00000350743;ENST00000454722;ENST00000439735;ENST00000475699	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-3.19	5.04	5.04	0.67666	Phospholipid/glycerol acyltransferase (2);	0.112510	0.64402	D	0.000020	D	0.97235	0.9096	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	0.963;1.0	B;D	0.81914	0.182;0.995	D	0.96538	0.9398	10	0.30078	T	0.28	.	14.8628	0.70394	0.0:0.0:1.0:0.0	.	158;188	Q16635-3;Q16635	.;TAZ_HUMAN	K	188;158;176;157;161	ENSP00000299328:E188K;ENSP00000338891:E158K;ENSP00000397388:E176K;ENSP00000398193:E157K;ENSP00000419854:E161K	ENSP00000299328:E188K	E	+	1	0	TAZ	153301258	1.000000	0.71417	0.919000	0.36401	0.520000	0.34377	6.323000	0.72891	2.093000	0.63338	0.525000	0.51046	GAA		0.647	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1		
MPP1	4354	hgsc.bcm.edu	37	X	154009975	154009975	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chrX:154009975T>C	ENST00000369534.3	-	10	1196	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	MPP1_ENST00000413259.3_Missense_Mutation_p.E320G|MPP1_ENST00000462825.1_5'Flank|MPP1_ENST00000393531.1_Missense_Mutation_p.E330G	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	350	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCTGCCAAACTCCAAGAACTC	0.488																																																	0			X											346.0	248.0	281.0					X																	154009975		2203	4300	6503	153663169	SO:0001583	missense	9585				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1049A>G	X.37:g.154009975T>C	ENSP00000358547:p.Glu350Gly		153663169	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878344	0.72294	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.71934	-0.61;-0.61;-0.61	5.39	5.39	0.77823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	H	0.98542	4.26	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	D	0.93261	0.6643	10	0.87932	D	0	.	13.2369	0.59974	0.0:0.0:0.0:1.0	.	333;320;330;350	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	G	350;320;330	ENSP00000358547:E350G;ENSP00000400155:E320G;ENSP00000377165:E330G	ENSP00000358547:E350G	E	-	2	0	MPP1	153663169	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.857000	0.86963	1.803000	0.52742	0.481000	0.45027	GAG		0.488	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436	
OTOP1	133060	hgsc.bcm.edu	37	4	4228459	4228459	+	Missense_Mutation	SNP	G	G	A	rs553397205		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:4228459G>A	ENST00000296358.4	-	1	157	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	45					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ccgccccgccggggggccggg	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		11547	0.0		0.001	False		,,,				2504	0.0																0			4											3.0	4.0	4.0					4																	4228459		1958	3835	5793	4279360	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.133C>T	4.37:g.4228459G>A	ENSP00000296358:p.Arg45Trp		4279360	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148239	0.37923	.	.	ENSG00000163982	ENST00000296358	T	0.09163	3.01	3.37	2.42	0.29668	.	0.633721	0.13992	U	0.348702	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.50378	0.639	T	0.19353	-1.0308	10	0.66056	D	0.02	.	10.4757	0.44663	0.0:0.1977:0.8023:0.0	.	45	Q7RTM1	OTOP1_HUMAN	W	45	ENSP00000296358:R45W	ENSP00000296358:R45W	R	-	1	2	OTOP1	4279360	0.017000	0.18338	0.009000	0.14445	0.117000	0.20001	1.053000	0.30442	1.626000	0.50381	0.430000	0.28490	CGG		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
SH3TC1	54436	hgsc.bcm.edu	37	4	8211522	8211522	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:8211522C>G	ENST00000245105.3	+	3	287	c.220C>G	c.(220-222)Ccc>Gcc	p.P74A	SH3TC1_ENST00000539824.1_5'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	74										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGGGACCCCTCCCTGCCAGAT	0.627																																					NSCLC(145;2298 2623 35616 37297)												0			4											37.0	36.0	37.0					4																	8211522		2203	4300	6503	8262422	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.220C>G	4.37:g.8211522C>G	ENSP00000245105:p.Pro74Ala		8262422	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	c	5.116	0.206961	0.09704	.	.	ENSG00000125089	ENST00000245105;ENST00000457650	T	0.74526	-0.85	2.32	0.395	0.16304	.	0.323947	0.18656	U	0.134842	T	0.57227	0.2039	L	0.48642	1.525	0.09310	N	0.999998	B	0.32101	0.356	B	0.30401	0.115	T	0.38394	-0.9663	10	0.14252	T	0.57	-2.2221	3.7639	0.08615	0.0:0.5883:0.2534:0.1583	.	74	Q8TE82	S3TC1_HUMAN	A	74	ENSP00000245105:P74A	ENSP00000245105:P74A	P	+	1	0	SH3TC1	8262422	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.269000	0.18589	0.066000	0.16515	0.556000	0.70494	CCC		0.627	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
CEP135	9662	hgsc.bcm.edu	37	4	56865777	56865777	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:56865777A>G	ENST00000257287.4	+	17	2370	c.2246A>G	c.(2245-2247)aAg>aGg	p.K749R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	749					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAGACAGAAAAGATTGCAAAT	0.333																																																	0			4											70.0	78.0	75.0					4																	56865777		2203	4300	6503	56560534	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2246A>G	4.37:g.56865777A>G	ENSP00000257287:p.Lys749Arg		56560534	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280056	0.23392	.	.	ENSG00000174799	ENST00000257287	T	0.56941	0.43	5.18	2.73	0.32206	.	0.248856	0.47093	D	0.000257	T	0.30230	0.0758	N	0.17723	0.515	0.28411	N	0.9182	B	0.06786	0.001	B	0.12837	0.008	T	0.17623	-1.0363	10	0.10377	T	0.69	.	7.3434	0.26650	0.6558:0.0:0.3442:0.0	.	749	Q66GS9	CP135_HUMAN	R	749	ENSP00000257287:K749R	ENSP00000257287:K749R	K	+	2	0	CEP135	56560534	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.491000	0.45303	0.786000	0.33708	0.524000	0.50904	AAG		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
SMARCAD1	56916	hgsc.bcm.edu	37	4	95202679	95202679	+	Silent	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:95202679T>C	ENST00000354268.4	+	21	2737	c.2664T>C	c.(2662-2664)gtT>gtC	p.V888V	SMARCAD1_ENST00000457823.2_Silent_p.V890V|SMARCAD1_ENST00000509418.1_Silent_p.V458V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	888	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTTAGAGGTTCTATTAAAAC	0.308																																																	0			4											161.0	164.0	163.0					4																	95202679		2203	4297	6500	95421702	SO:0001819	synonymous_variant	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2664T>C	4.37:g.95202679T>C			95421702	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	37	CCDS3639.1																																																																																				0.308	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
FAT4	79633	hgsc.bcm.edu	37	4	126238491	126238491	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:126238491G>A	ENST00000394329.3	+	1	938	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						CACGGTGCGGGAGCCCCTGGA	0.657											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4											25.0	31.0	29.0					4																	126238491		2015	4165	6180	126457941	SO:0001583	missense	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.925G>A	4.37:g.126238491G>A	ENSP00000377862:p.Glu309Lys	1548	126457941	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648997	0.29336	.	.	ENSG00000196159	ENST00000394329	T	0.44881	0.91	5.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.000000	0.34676	U	0.003761	T	0.31796	0.0808	N	0.01482	-0.84	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.19877	-1.0292	10	0.07990	T	0.79	.	14.7103	0.69225	0.0:0.412:0.5879:0.0	.	309	Q6V0I7	FAT4_HUMAN	K	309	ENSP00000377862:E309K	ENSP00000377862:E309K	E	+	1	0	FAT4	126457941	1.000000	0.71417	0.992000	0.48379	0.153000	0.21895	6.327000	0.72910	1.156000	0.42514	-0.175000	0.13238	GAG		0.657	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FBXW7	55294	hgsc.bcm.edu	37	4	153244079	153244079	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:153244079T>C	ENST00000281708.4	-	12	3307	c.2078A>G	c.(2077-2079)gAa>gGa	p.E693G	FBXW7_ENST00000263981.5_Missense_Mutation_p.E613G|FBXW7_ENST00000393956.3_Missense_Mutation_p.E517G|FBXW7_ENST00000603841.1_Missense_Mutation_p.E693G|FBXW7_ENST00000296555.5_Missense_Mutation_p.E575G|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Missense_Mutation_p.E693G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	693					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)				CTTGGTTTCTTCAGTCCCATT	0.502			"""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											164.0	159.0	161.0					4																	153244079		2203	4300	6503	153463529	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.2078A>G	4.37:g.153244079T>C	ENSP00000281708:p.Glu693Gly		153463529	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673314	0.47781	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.56941	0.44;0.47;0.43;0.63	5.67	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	M	0.82923	2.615	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	0.77148	-0.2694	10	0.87932	D	0	-21.5342	13.079	0.59102	0.0:0.0:0.1338:0.8662	.	517;693;575;613	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	693;575;613;517	ENSP00000281708:E693G;ENSP00000296555:E575G;ENSP00000263981:E613G;ENSP00000377528:E517G	ENSP00000263981:E613G	E	-	2	0	FBXW7	153463529	1.000000	0.71417	0.587000	0.28692	0.998000	0.95712	8.015000	0.88690	0.948000	0.37687	0.533000	0.62120	GAA		0.502	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153249383	153249383	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:153249383A>G	ENST00000281708.4	-	9	2624	c.1395T>C	c.(1393-1395)cgT>cgC	p.R465R	FBXW7_ENST00000263981.5_Silent_p.R385R|FBXW7_ENST00000393956.3_Silent_p.R289R|FBXW7_ENST00000603841.1_Silent_p.R465R|FBXW7_ENST00000296555.5_Silent_p.R347R|FBXW7_ENST00000603548.1_Silent_p.R465R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)				GATGCATACAACGCACAGTGG	0.413			"""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											253.0	218.0	230.0					4																	153249383		2203	4300	6503	153468833	SO:0001819	synonymous_variant	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.1395T>C	4.37:g.153249383A>G			153468833	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|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)				TGCATACAACGCACAGTGGAA	0.413			"""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"""	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	4											260.0	223.0	235.0					4																	153249385		2203	4300	6503	153468835	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.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		153468835	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	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	0.67287	0.2877	M	0.71206	2.165	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	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
KIAA0922	23240	hgsc.bcm.edu	37	4	154504794	154504794	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:154504794T>G	ENST00000409663.3	+	11	1082	c.1030T>G	c.(1030-1032)Ttt>Gtt	p.F344V	KIAA0922_ENST00000409959.3_Missense_Mutation_p.F344V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.F344V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	344						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TACAACAAACTTTACAAAAAT	0.358																																																	0			4											101.0	100.0	101.0					4																	154504794		2203	4300	6503	154724244	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1030T>G	4.37:g.154504794T>G	ENSP00000386574:p.Phe344Val		154724244	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469759	0.84533	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.32;2.15;2.41;2.15	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.32530	0.975	0.33015	D	0.52805	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.42832	-0.9428	10	0.42905	T	0.14	-24.0989	15.1157	0.72401	0.0:0.0:0.0:1.0	.	344;344;344	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	V	344;344;344;205	ENSP00000386574:F344V;ENSP00000409663:F344V;ENSP00000386787:F344V;ENSP00000240487:F205V	ENSP00000240487:F205V	F	+	1	0	KIAA0922	154724244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.480000	0.66820	2.311000	0.77944	0.533000	0.62120	TTT		0.358	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
FAM198B	51313	hgsc.bcm.edu	37	4	159091911	159091911	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:159091911C>A	ENST00000296530.8	-	2	1238	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.R206M|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.R206M|FAM198B_ENST00000585682.1_Missense_Mutation_p.R206M	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCTGTAGATCCTAATGTTGCT	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4											53.0	57.0	56.0					4																	159091911		2203	4300	6503	159311361	SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.617G>T	4.37:g.159091911C>A	ENSP00000296530:p.Arg206Met	1798	159311361	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779122	0.90195	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.34859	1.34;1.34	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.71581	2.175	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	0.65405	-0.6176	10	0.87932	D	0	0.7848	18.341	0.90305	0.0:1.0:0.0:0.0	.	206;206;206	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	M	206	ENSP00000296530:R206M;ENSP00000377396:R206M	ENSP00000296530:R206M	R	-	2	0	FAM198B	159311361	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.780000	0.75063	2.550000	0.86006	0.563000	0.77884	AGG		0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
ADAM29	11086	hgsc.bcm.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T746M(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)		CCTCCTGTGACGCCTTCCCAG	0.537																																					Ovarian(140;1727 1835 21805 25838 41440)												2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4											149.0	132.0	138.0					4																	175898913		2203	4300	6503	176135488	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.2237C>T	4.37:g.175898913C>T	ENSP00000352177:p.Thr746Met		176135488	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866447	0.17250	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	1.54	0.582	0.17412	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.45998	0.5	T	0.53005	-0.8499	8	.	.	.	.	6.1783	0.20457	0.0:0.802:0.0:0.198	.	746	Q9UKF5	ADA29_HUMAN	M	746	ENSP00000352177:T746M;ENSP00000414544:T746M;ENSP00000384229:T746M;ENSP00000423517:T746M	.	T	+	2	0	ADAM29	176135488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.798000	0.04565	-0.059000	0.13154	0.478000	0.44815	ACG		0.537	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
KLKB1	3818	hgsc.bcm.edu	37	4	187177214	187177214	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:187177214A>G	ENST00000264690.6	+	13	1745	c.1558A>G	c.(1558-1560)Acc>Gcc	p.T520A	KLKB1_ENST00000513864.1_Missense_Mutation_p.T520A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	520	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTTGGGTAACCGGATGGGG	0.383																																																	0			4											68.0	70.0	70.0					4																	187177214		2203	4300	6503	187414208	SO:0001583	missense	3818			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1558A>G	4.37:g.187177214A>G	ENSP00000264690:p.Thr520Ala		187414208	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182385	0.57800	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.92752	-3.1;-3.1	5.77	5.77	0.91146	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.148919	0.46758	D	0.000278	D	0.90834	0.7121	N	0.20574	0.59	0.40217	D	0.977693	P;P;P	0.48350	0.909;0.847;0.866	P;P;P	0.55455	0.455;0.776;0.471	D	0.91157	0.4958	10	0.38643	T	0.18	.	15.2758	0.73739	1.0:0.0:0.0:0.0	.	482;520;520	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	A	520;520;482	ENSP00000264690:T520A;ENSP00000424469:T520A	ENSP00000264690:T520A	T	+	1	0	KLKB1	187414208	0.998000	0.40836	0.895000	0.35142	0.049000	0.14656	5.632000	0.67819	2.203000	0.70933	0.460000	0.39030	ACC		0.383	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
TRAPPC12	51112	hgsc.bcm.edu	37	2	3469378	3469378	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:3469378T>C	ENST00000324266.5	+	9	1883	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L563P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	563					vesicle-mediated transport (GO:0016192)			p.L563P(1)									GATTATGTGCTGGCCGTGGAG	0.527																																																	1	Substitution - Missense(1)	ovary(1)	2											115.0	108.0	111.0					2																	3469378		2203	4300	6503	3448385	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1688T>C	2.37:g.3469378T>C	ENSP00000324318:p.Leu563Pro		3448385	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028083	0.54790	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.63744	-0.06;-0.06;-0.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.82741	-0.0307	10	0.48119	T	0.1	.	15.072	0.72046	0.0:0.0:0.0:1.0	.	552;563	E7ENL7;Q8WVT3	.;TPC12_HUMAN	P	563;552;563;61	ENSP00000371544:L563P;ENSP00000324318:L563P;ENSP00000396592:L61P	ENSP00000303612:L552P	L	+	2	0	TTC15	3448385	1.000000	0.71417	0.960000	0.40013	0.035000	0.12851	7.496000	0.81526	2.146000	0.66826	0.533000	0.62120	CTG		0.527	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
DTNB	1838	hgsc.bcm.edu	37	2	25875497	25875497	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:25875497G>A	ENST00000406818.3	-	2	282	c.33C>T	c.(31-33)acC>acT	p.T11T	DTNB_ENST00000405222.1_Silent_p.T11T|DTNB_ENST00000496972.2_5'Flank|DTNB_ENST00000407038.3_Silent_p.T11T|DTNB_ENST00000404103.3_Silent_p.T11T|DTNB_ENST00000407186.1_Silent_p.T11T|DTNB_ENST00000407661.3_Silent_p.T11T|DTNB_ENST00000472690.1_5'Flank|DTNB_ENST00000288642.8_Silent_p.T11T|DTNB_ENST00000545439.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	11						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTGCCATGGTCTTCCGCT	0.383																																																	0			2											177.0	172.0	174.0					2																	25875497		1950	4146	6096	25729001	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.33C>T	2.37:g.25875497G>A			25729001	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.383	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147	
SPDYA	245711	hgsc.bcm.edu	37	2	29039006	29039006	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:29039006T>G	ENST00000334056.5	+	3	315	c.126T>G	c.(124-126)aaT>aaG	p.N42K	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.N42K	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.N42K(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GTAAAGATAATTGGCAAGCAT	0.373																																																	1	Substitution - Missense(1)	ovary(1)	2											112.0	111.0	111.0					2																	29039006		2203	4300	6503	28892510	SO:0001583	missense	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.126T>G	2.37:g.29039006T>G	ENSP00000335628:p.Asn42Lys		28892510		Missense_Mutation	SNP	ENST00000334056.5	37	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736850	0.30774	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	4.89	2.51	0.30379	.	0.392314	0.21639	U	0.071364	T	0.23846	0.0577	N	0.19112	0.55	0.23893	N	0.996542	B;B	0.14012	0.002;0.009	B;B	0.15870	0.006;0.014	T	0.16394	-1.0404	9	0.19590	T	0.45	-34.7368	8.2118	0.31488	0.0:0.2299:0.0:0.77	.	42;42	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	K	42	.	ENSP00000335628:N42K	N	+	3	2	SPDYA	28892510	0.945000	0.32115	1.000000	0.80357	0.923000	0.55619	0.500000	0.22562	0.828000	0.34709	0.533000	0.62120	AAT		0.373	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756	
SOS1	6654	hgsc.bcm.edu	37	2	39249842	39249842	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:39249842C>T	ENST00000426016.1	-	11	1813	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000402219.2_Missense_Mutation_p.R576K|SOS1_ENST00000395038.2_Missense_Mutation_p.R576K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	576					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCTGCAAATCTATAAACATC	0.408									Noonan syndrome																																								0			2											148.0	144.0	145.0					2																	39249842		2203	4300	6503	39103346	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1727G>A	2.37:g.39249842C>T	ENSP00000387784:p.Arg576Lys		39103346	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590954	0.66219	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.30714	1.52;1.52;1.52	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.51914	1.62	0.80722	D	1	P;B	0.40431	0.717;0.326	P;B	0.46389	0.515;0.323	T	0.02437	-1.1159	10	0.18710	T	0.47	.	20.0039	0.97428	0.0:1.0:0.0:0.0	.	308;576	F5GX06;Q07889	.;SOS1_HUMAN	K	576;576;308;576;576	ENSP00000387784:R576K;ENSP00000384675:R576K;ENSP00000378479:R576K	ENSP00000263879:R576K	R	-	2	0	SOS1	39103346	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.971000	0.70440	2.722000	0.93159	0.557000	0.71058	AGA		0.408	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
MTIF2	4528	hgsc.bcm.edu	37	2	55473531	55473531	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:55473531C>T	ENST00000263629.4	-	10	1363	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	MTIF2_ENST00000403721.1_Missense_Mutation_p.D350N|MTIF2_ENST00000394600.3_Missense_Mutation_p.D350N	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	350					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D350Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATTGGGATCTGCTTTCAAT	0.388																																																	1	Substitution - Missense(1)	ovary(1)	2											172.0	158.0	163.0					2																	55473531		2203	4300	6503	55327035	SO:0001583	missense	4528			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1048G>A	2.37:g.55473531C>T	ENSP00000263629:p.Asp350Asn		55327035	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302861	0.95601	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.33	5.33	0.75918	.	0.105696	0.64402	D	0.000005	T	0.42944	0.1225	N	0.11845	0.185	0.80722	D	1	D	0.60160	0.987	D	0.70487	0.969	T	0.16630	-1.0396	10	0.02654	T	1	-17.6566	19.0262	0.92932	0.0:1.0:0.0:0.0	.	350	P46199	IF2M_HUMAN	N	350;350;350;70;350	ENSP00000384481:D350N;ENSP00000263629:D350N;ENSP00000378099:D350N;ENSP00000403492:D70N	ENSP00000263629:D350N	D	-	1	0	MTIF2	55327035	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.268000	0.78473	2.505000	0.84491	0.655000	0.94253	GAT		0.388	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
DNAH6	1768	hgsc.bcm.edu	37	2	84886194	84886194	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:84886194C>A	ENST00000237449.6	+	36	5993	c.5985C>A	c.(5983-5985)ttC>ttA	p.F1995L	DNAH6_ENST00000602588.1_Missense_Mutation_p.F16L|DNAH6_ENST00000389394.3_Missense_Mutation_p.F1995L|DNAH6_ENST00000398278.2_Missense_Mutation_p.F1995L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1995					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(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTTTGTATTCTGTTATTTGT	0.294																																																	0			2											116.0	102.0	106.0					2																	84886194		692	1585	2277	84739705	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5985C>A	2.37:g.84886194C>A	ENSP00000237449:p.Phe1995Leu		84739705	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893597	0.72639	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.33216	1.42;1.48;1.42	5.09	3.18	0.36537	.	.	.	.	.	T	0.54447	0.1859	M	0.87456	2.885	0.36632	D	0.87633	D;D	0.69078	0.997;0.988	D;D	0.66602	0.945;0.945	T	0.65467	-0.6161	9	0.72032	D	0.01	.	8.7628	0.34685	0.0:0.7381:0.0:0.2619	.	1995;1995	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	L	1995	ENSP00000374045:F1995L;ENSP00000381326:F1995L;ENSP00000237449:F1995L	ENSP00000237449:F1995L	F	+	3	2	DNAH6	84739705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.927000	0.40094	1.206000	0.43276	0.643000	0.83706	TTC		0.294	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
SLC9A2	6549	hgsc.bcm.edu	37	2	103299862	103299862	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:103299862G>A	ENST00000233969.2	+	4	1289	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	383					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V383M(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTGTCTACCGTGGGCAAGAA	0.502																																																	1	Substitution - Missense(1)	central_nervous_system(1)	2											187.0	151.0	163.0					2																	103299862		2203	4300	6503	102666294	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1147G>A	2.37:g.103299862G>A	ENSP00000233969:p.Val383Met		102666294	B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896925	0.52121	.	.	ENSG00000115616	ENST00000233969	T	0.15718	2.4	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.120730	0.56097	D	0.000037	T	0.33498	0.0865	M	0.76838	2.35	0.44966	D	0.997985	D	0.53745	0.962	P	0.54060	0.741	T	0.07597	-1.0764	10	0.87932	D	0	.	10.2345	0.43275	0.1469:0.0:0.8531:0.0	.	383	Q9UBY0	SL9A2_HUMAN	M	383	ENSP00000233969:V383M	ENSP00000233969:V383M	V	+	1	0	SLC9A2	102666294	0.979000	0.34478	0.294000	0.24946	0.560000	0.35617	1.941000	0.40233	2.686000	0.91538	0.561000	0.74099	GTG		0.502	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
MFSD9	84804	hgsc.bcm.edu	37	2	103348857	103348857	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:103348857A>G	ENST00000258436.5	-	2	220	c.177T>C	c.(175-177)ggT>ggC	p.G59G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	59			G -> A (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCATGCTGACACCAAACAAAT	0.338																																																	0			2											117.0	110.0	112.0					2																	103348857		2203	4300	6503	102715289	SO:0001819	synonymous_variant	84804				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.177T>C	2.37:g.103348857A>G			102715289	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																				0.338	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
MERTK	10461	hgsc.bcm.edu	37	2	112779854	112779854	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:112779854T>C	ENST00000295408.4	+	18	2626	c.2369T>C	c.(2368-2370)aTg>aCg	p.M790T	MERTK_ENST00000421804.2_Missense_Mutation_p.M790T|MERTK_ENST00000409780.1_Missense_Mutation_p.M614T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	790	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGCGTGACCATGTGGGAAATA	0.493																																																	0			2											136.0	119.0	125.0					2																	112779854		2203	4300	6503	112496325	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2369T>C	2.37:g.112779854T>C	ENSP00000295408:p.Met790Thr		112496325	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206371	0.79127	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40469	U	0.001096	T	0.74876	0.3774	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77496	-0.2566	10	0.87932	D	0	-39.568	15.7698	0.78157	0.0:0.0:0.0:1.0	.	790	Q12866	MERTK_HUMAN	T	790;790;426;614;114	ENSP00000295408:M790T;ENSP00000389152:M790T;ENSP00000387277:M614T;ENSP00000412660:M114T	ENSP00000295408:M790T	M	+	2	0	MERTK	112496325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.189000	0.69895	0.533000	0.62120	ATG		0.493	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
NEB	4703	hgsc.bcm.edu	37	2	152402489	152402489	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:152402489C>T	ENST00000172853.10	-	107	15534	c.15387G>A	c.(15385-15387)aaG>aaA	p.K5129K	NEB_ENST00000604864.1_Silent_p.K6830K|NEB_ENST00000603639.1_Silent_p.K6830K|NEB_ENST00000409198.1_Silent_p.K5129K|NEB_ENST00000397345.3_Silent_p.K6830K|NEB_ENST00000427231.2_Silent_p.K6830K			P20929	NEBU_HUMAN	nebulin	5129					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCCTTGCCTTATCAGTGT	0.338																																																	0			2											155.0	132.0	139.0					2																	152402489		1871	4104	5975	152110735	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15387G>A	2.37:g.152402489C>T			152110735	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.338	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GALNT5	11227	hgsc.bcm.edu	37	2	158115757	158115757	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:158115757G>A	ENST00000259056.4	+	1	1648	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	388					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						TTAACTGGAGGGCTAGAGCCA	0.443																																																	0			2											94.0	92.0	93.0					2																	158115757		2203	4300	6503	157824003	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.1163G>A	2.37:g.158115757G>A	ENSP00000259056:p.Gly388Glu		157824003	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894018	0.33442	.	.	ENSG00000136542	ENST00000259056	T	0.59772	0.24	5.95	0.983	0.19767	.	0.963564	0.08591	N	0.922966	T	0.40719	0.1128	N	0.20986	0.625	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.28839	-1.0031	10	0.46703	T	0.11	.	5.7524	0.18154	0.2709:0.2357:0.4933:0.0	.	388	Q7Z7M9	GALT5_HUMAN	E	388	ENSP00000259056:G388E	ENSP00000259056:G388E	G	+	2	0	GALNT5	157824003	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.552000	0.23376	-0.095000	0.12351	-0.157000	0.13467	GGG		0.443	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
SLC4A10	57282	hgsc.bcm.edu	37	2	162813736	162813736	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:162813736A>G	ENST00000446997.1	+	20	2872	c.2779A>G	c.(2779-2781)Acc>Gcc	p.T927A	SLC4A10_ENST00000272716.5_Missense_Mutation_p.T897A|SLC4A10_ENST00000415876.2_Missense_Mutation_p.T897A|SLC4A10_ENST00000375514.5_Missense_Mutation_p.T908A|SLC4A10_ENST00000421911.1_Missense_Mutation_p.T927A	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	927					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGTCTTTATGACCAGTATTCT	0.348																																																	0			2											63.0	61.0	62.0					2																	162813736		1871	4116	5987	162521982	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2779A>G	2.37:g.162813736A>G	ENSP00000393066:p.Thr927Ala		162521982	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661776	0.47572	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	L	0.48362	1.52	0.80722	D	1	D;D;B	0.53885	0.963;0.963;0.273	P;P;B	0.60886	0.88;0.88;0.254	T	0.76041	-0.3104	10	0.08837	T	0.75	.	15.7565	0.78030	1.0:0.0:0.0:0.0	.	908;897;927	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	A	908;897;897;896;927;927;926	ENSP00000364664:T908A;ENSP00000395797:T897A;ENSP00000272716:T897A;ENSP00000393066:T927A;ENSP00000404486:T927A	ENSP00000272716:T897A	T	+	1	0	SLC4A10	162521982	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.287000	0.95975	2.177000	0.69029	0.533000	0.62120	ACC		0.348	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
SCN3A	6328	hgsc.bcm.edu	37	2	165994389	165994389	+	Splice_Site	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:165994389C>T	ENST00000360093.3	-	15	2882	c.2391G>A	c.(2389-2391)ctG>ctA	p.L797L	SCN3A_ENST00000409101.3_Splice_Site_p.L748L|SCN3A_ENST00000283254.7_Splice_Site_p.L797L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	797					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTACTTACCAGGTTTCCTA	0.383																																																	0			2											104.0	100.0	102.0					2																	165994389		2203	4299	6502	165702635	SO:0001630	splice_region_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2391+1G>A	2.37:g.165994389C>T			165702635	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Silent
SP3	6670	hgsc.bcm.edu	37	2	174777881	174777881	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:174777881C>T	ENST00000310015.6	-	6	2476	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	SP3_ENST00000455789.2_Missense_Mutation_p.R596H|SP3_ENST00000418194.2_Missense_Mutation_p.R581H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	649					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AACAAAAGGGCGTTCTCCAGA	0.408																																																	0			2											117.0	104.0	108.0					2																	174777881		2203	4300	6503	174486127	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1946G>A	2.37:g.174777881C>T	ENSP00000310301:p.Arg649His		174486127	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.53|18.53	3.643666|3.643666	0.67244|0.67244	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.20332	.|2.08;2.08;2.08	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54029|0.54029	0.1833|0.1833	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.89917	.|0.772;1.0;1.0	.|P;D;D	.|0.91635	.|0.458;0.981;0.999	T|T	0.59910|0.59910	-0.7365|-0.7365	5|10	.|0.87932	.|D	.|0	.|.	19.5526|19.5526	0.95328|0.95328	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|646;649;596	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	T|H	606|649;596;581	.|ENSP00000310301:R649H;ENSP00000388903:R596H;ENSP00000406140:R581H	.|ENSP00000310301:R649H	A|R	-|-	1|2	0|0	SP3|SP3	174486127|174486127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.776000|7.776000	0.85560|0.85560	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.408	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
TTN	7273	hgsc.bcm.edu	37	2	179485250	179485250	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:179485250T>C	ENST00000591111.1	-	198	41299	c.41075A>G	c.(41074-41076)aAg>aGg	p.K13692R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K6460R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K6393R|TTN_ENST00000460472.2_Missense_Mutation_p.K6268R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K15333R|TTN_ENST00000342992.6_Missense_Mutation_p.K12765R			Q8WZ42	TITIN_HUMAN	titin	13692	Ig-like 93.				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.K12765M(1)|p.K6268M(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)			TTTGGTCCACTTCAGTGTTAC	0.403																																																	2	Substitution - Missense(2)	ovary(2)	2											136.0	128.0	130.0					2																	179485250		1938	4131	6069	179193495	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.41075A>G	2.37:g.179485250T>C	ENSP00000465570:p.Lys13692Arg		179193495	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		.	.	.	.	.	.	.	.	.	.	T	13.38	2.219334	0.39201	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66934	0.2840	L	0.49256	1.55	0.31136	N	0.707199	B;B;B;B	0.32653	0.379;0.379;0.379;0.379	B;B;B;B	0.40825	0.341;0.341;0.341;0.341	T	0.72912	-0.4148	9	0.87932	D	0	.	11.4123	0.49933	0.1347:0.0:0.0:0.8653	.	6268;6393;6460;13692	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	12765;6268;6460;6393;6268	ENSP00000343764:K12765R;ENSP00000434586:K6268R;ENSP00000340554:K6460R;ENSP00000352154:K6393R	ENSP00000340554:K6460R	K	-	2	0	TTN	179193495	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	3.966000	0.56795	2.254000	0.74563	0.460000	0.39030	AAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SDPR	8436	hgsc.bcm.edu	37	2	192711271	192711271	+	Silent	SNP	C	C	A	rs116535615	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:192711271C>A	ENST00000304141.4	-	1	710	c.381G>T	c.(379-381)gcG>gcT	p.A127A	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response									p.A127A(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCTCTTTGACCGCGCGCGTGT	0.597													C|||	11	0.00219649	0.0008	0.0	5008	,	,		20070	0.0099		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	2						C		4,4402	8.1+/-20.4	0,4,2199	70.0	63.0	66.0		381	-9.2	0.1	2	dbSNP_132	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDPR	NM_004657.5		0,5,6498	AA,AC,CC		0.0116,0.0908,0.0384		127/426	192711271	5,13001	2203	4300	6503	192419516	SO:0001819	synonymous_variant	8436			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.381G>T	2.37:g.192711271C>A			192419516		Silent	SNP	ENST00000304141.4	37	CCDS2313.1																																																																																				0.597	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
MYL1	4632	hgsc.bcm.edu	37	2	211163165	211163165	+	Silent	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:211163165G>A	ENST00000352451.3	-	3	430	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.L51L	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	95					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGGTTTCCCAGAACTTTCCTG	0.483																																																	0			2											164.0	155.0	158.0					2																	211163165		2203	4300	6503	210871410	SO:0001819	synonymous_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.283C>T	2.37:g.211163165G>A			210871410	B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	ENST00000352451.3	37	CCDS2390.1																																																																																				0.483	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420	
FN1	2335	hgsc.bcm.edu	37	2	216298151	216298151	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:216298151T>C	ENST00000359671.1	-	3	576	c.311A>G	c.(310-312)aAc>aGc	p.N104S	FN1_ENST00000357867.4_Missense_Mutation_p.N104S|FN1_ENST00000446046.1_Missense_Mutation_p.N104S|FN1_ENST00000421182.1_Missense_Mutation_p.N104S|FN1_ENST00000443816.1_Missense_Mutation_p.N104S|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000356005.4_Missense_Mutation_p.N104S|FN1_ENST00000354785.4_Missense_Mutation_p.N104S|FN1_ENST00000323926.6_Missense_Mutation_p.N104S|FN1_ENST00000432072.2_Missense_Mutation_p.N104S|FN1_ENST00000345488.5_Missense_Mutation_p.N104S|FN1_ENST00000426059.1_Missense_Mutation_p.N104S|FN1_ENST00000357009.2_Missense_Mutation_p.N104S|FN1_ENST00000336916.4_Missense_Mutation_p.N104S|FN1_ENST00000346544.3_Missense_Mutation_p.N104S			P02751	FINC_HUMAN	fibronectin 1	104	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.N104S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCGGTAAGTGTTCCCAGTGTA	0.498																																																	1	Substitution - Missense(1)	central_nervous_system(1)	2											121.0	99.0	106.0					2																	216298151		2203	4300	6503	216006396	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.311A>G	2.37:g.216298151T>C	ENSP00000352696:p.Asn104Ser		216006396	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	T	6.501	0.460622	0.12342	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.07	3.67	0.42095	.	0.408692	0.25836	N	0.027991	T	0.30262	0.0759	N	0.03608	-0.345	0.09310	N	0.999998	B;D;B;P;B;B;B;B;B;B;B	0.64830	0.005;0.994;0.004;0.885;0.001;0.002;0.013;0.035;0.003;0.001;0.014	B;D;B;P;B;B;B;B;B;B;B	0.79108	0.023;0.992;0.008;0.533;0.003;0.005;0.022;0.049;0.003;0.003;0.02	T	0.16867	-1.0388	10	0.15952	T	0.53	.	2.1799	0.03872	0.22:0.0716:0.2648:0.4435	.	104;104;104;104;104;104;104;104;104;104;104	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	104	ENSP00000394423:N104S;ENSP00000323534:N104S;ENSP00000338200:N104S;ENSP00000350534:N104S;ENSP00000346839:N104S;ENSP00000352696:N104S;ENSP00000265312:N104S;ENSP00000273049:N104S;ENSP00000349509:N104S;ENSP00000410422:N104S;ENSP00000415018:N104S;ENSP00000399538:N104S;ENSP00000348285:N104S;ENSP00000398907:N104S	ENSP00000265313:N104S	N	-	2	0	FN1	216006396	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.818000	0.27295	0.515000	0.28320	0.533000	0.62120	AAC		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
DOCK10	55619	hgsc.bcm.edu	37	2	225639744	225639744	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:225639744C>A	ENST00000258390.7	-	52	5958	c.5891G>T	c.(5890-5892)cGg>cTg	p.R1964L	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1958L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1964	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCTGTCTTCCGGTCTTCGAT	0.517																																																	0			2											88.0	91.0	90.0					2																	225639744		2017	4204	6221	225347988	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5891G>T	2.37:g.225639744C>A	ENSP00000258390:p.Arg1964Leu		225347988	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558258	0.65538	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.24538	1.85;1.85	5.48	5.48	0.80851	.	0.056199	0.64402	D	0.000001	T	0.58148	0.2102	M	0.92970	3.365	0.53005	D	0.999968	P;P;P	0.47484	0.896;0.802;0.848	P;P;B	0.55391	0.775;0.588;0.394	T	0.67864	-0.5560	10	0.72032	D	0.01	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	1964;1958;626	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	L	1958;1964;471	ENSP00000386694:R1958L;ENSP00000258390:R1964L	ENSP00000258390:R1964L	R	-	2	0	DOCK10	225347988	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.506000	0.60428	2.724000	0.93272	0.563000	0.77884	CGG		0.517	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
CNTLN	54875	hgsc.bcm.edu	37	9	17464557	17464557	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:17464557G>C	ENST00000380647.3	+	21	3551	c.3467G>C	c.(3466-3468)cGa>cCa	p.R1156P	CNTLN_ENST00000262360.5_Missense_Mutation_p.R1156P|CNTLN_ENST00000425824.1_Missense_Mutation_p.R1156P			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1156					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGAAATTTCGACAGAAAGTA	0.289																																																	0			9											76.0	80.0	79.0					9																	17464557		1797	4038	5835	17454557	SO:0001583	missense	54875			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3467G>C	9.37:g.17464557G>C	ENSP00000370021:p.Arg1156Pro		17454557	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659690	0.47572	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.32272	1.46;1.46;1.71	5.26	5.26	0.73747	.	.	.	.	.	T	0.57242	0.2040	M	0.75264	2.295	0.40012	D	0.975306	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.979;0.979	T	0.54146	-0.8337	9	0.32370	T	0.25	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	1156;1156;1156	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	P	1156	ENSP00000370021:R1156P;ENSP00000392798:R1156P;ENSP00000262360:R1156P	ENSP00000262360:R1156P	R	+	2	0	CNTLN	17454557	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.454000	0.66651	2.626000	0.88956	0.585000	0.79938	CGA		0.289	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
CTSL	1514	hgsc.bcm.edu	37	9	90342638	90342638	+	Silent	SNP	C	C	T	rs546059099		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:90342638C>T	ENST00000343150.5	+	2	1010	c.120C>T	c.(118-120)taC>taT	p.Y40Y	CTSL_ENST00000342020.5_Silent_p.Y40Y|CTSL_ENST00000340342.6_Silent_p.Y40Y|CTSL_ENST00000495822.1_Intron			P07711	CATL1_HUMAN	cathepsin L	40					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										ACAGATTATACGGCATGGTTA	0.453																																																	0			9											83.0	75.0	77.0					9																	90342638		2203	4300	6503	89532458	SO:0001819	synonymous_variant	1514			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.120C>T	9.37:g.90342638C>T			89532458	Q6IAV1|Q96QJ0	Silent	SNP	ENST00000343150.5	37	CCDS6675.1																																																																																				0.453	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
PTCH1	5727	hgsc.bcm.edu	37	9	98221883	98221883	+	Splice_Site	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:98221883T>C	ENST00000331920.6	-	17	3185	c.2886A>G	c.(2884-2886)agA>agG	p.R962R	PTCH1_ENST00000375274.2_Splice_Site_p.R961R|PTCH1_ENST00000429896.2_Splice_Site_p.R811R|PTCH1_ENST00000421141.1_Splice_Site_p.R811R|PTCH1_ENST00000437951.1_Splice_Site_p.R896R|PTCH1_ENST00000418258.1_Splice_Site_p.R811R|PTCH1_ENST00000430669.2_Splice_Site_p.R896R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	962					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)			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)				GCTACTTACTTCTCAGCCTTG	0.567																																																	0			9											129.0	111.0	117.0					9																	98221883		2203	4300	6503	97261704	SO:0001630	splice_region_variant	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.2887+1A>G	9.37:g.98221883T>C			97261704	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	Silent
EPB41L4B	54566	hgsc.bcm.edu	37	9	111956583	111956583	+	Missense_Mutation	SNP	C	C	T	rs201636849		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:111956583C>T	ENST00000374566.3	-	21	2657	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M	RNU6-984P_ENST00000363236.1_RNA	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	714					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAGCGGCACGGAGACTTGT	0.612																																																	0			9											123.0	146.0	138.0					9																	111956583		2037	4189	6226	110996404	SO:0001583	missense	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2140G>A	9.37:g.111956583C>T	ENSP00000363694:p.Val714Met		110996404	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149441	0.37923	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.85171	-1.95	5.49	4.6	0.57074	.	1.002150	0.08049	N	0.996398	T	0.76884	0.4050	N	0.24115	0.695	0.26290	N	0.978136	B	0.27286	0.174	B	0.20955	0.032	T	0.65257	-0.6212	10	0.45353	T	0.12	.	10.291	0.43596	0.0:0.9092:0.0:0.0908	.	714	Q9H329	E41LB_HUMAN	M	399;714	ENSP00000363694:V714M	ENSP00000262536:V399M	V	-	1	0	EPB41L4B	110996404	0.011000	0.17503	0.002000	0.10522	0.182000	0.23217	2.673000	0.46858	1.328000	0.45358	0.655000	0.94253	GTG		0.612	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
CNTRL	11064	hgsc.bcm.edu	37	9	123924138	123924138	+	Silent	SNP	A	A	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:123924138A>T	ENST00000373855.1	+	33	5354	c.5094A>T	c.(5092-5094)ctA>ctT	p.L1698L	CNTRL_ENST00000373850.1_Silent_p.L1146L|CNTRL_ENST00000238341.5_Silent_p.L1698L|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1698					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCTTAGAACTAAAGAATATTC	0.348																																																	0			9											67.0	70.0	69.0					9																	123924138		2203	4300	6503	122963959	SO:0001819	synonymous_variant	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5094A>T	9.37:g.123924138A>T			122963959	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																				0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
ARPC5L	81873	hgsc.bcm.edu	37	9	127637257	127637257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr9:127637257C>T	ENST00000353214.2	+	5	1478	c.226C>T	c.(226-228)Cga>Tga	p.R76*	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Nonsense_Mutation_p.R76*			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	76					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						TCTGCAGGAGCGAGCCCAGGG	0.542																																																	0			9											106.0	102.0	103.0					9																	127637257		2203	4300	6503	126677078	SO:0001587	stop_gained	81873			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.226C>T	9.37:g.127637257C>T	ENSP00000345361:p.Arg76*		126677078	Q7Z523	Nonsense_Mutation	SNP	ENST00000353214.2	37	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	C	44	11.272936	0.99539	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.97	0.769	0.18492	.	0.075178	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1215	6.7622	0.23546	0.1679:0.5652:0.207:0.0599	.	.	.	.	X	76	.	ENSP00000259477:R76X	R	+	1	2	ARPC5L	126677078	0.995000	0.38212	0.705000	0.30386	0.275000	0.26752	3.281000	0.51685	0.131000	0.18576	-2.292000	0.00266	CGA		0.542	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978	
RXFP2	122042	hgsc.bcm.edu	37	13	32367190	32367190	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr13:32367190T>C	ENST00000298386.2	+	16	1822	c.1751T>C	c.(1750-1752)aTt>aCt	p.I584T	RXFP2_ENST00000380314.1_Missense_Mutation_p.I560T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	584					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACAGAAGATATTGGAAGCAAA	0.289																																																	0			13											37.0	42.0	40.0					13																	32367190		2200	4299	6499	31265190	SO:0001583	missense	122042			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1751T>C	13.37:g.32367190T>C	ENSP00000298386:p.Ile584Thr		31265190	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	0.314	-0.966210	0.02232	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.36157	1.27;1.27	5.73	-4.76	0.03229	GPCR, rhodopsin-like superfamily (1);	0.690463	0.15450	N	0.261736	T	0.13457	0.0326	N	0.03000	-0.44	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.21381	-1.0247	10	0.19147	T	0.46	.	14.1667	0.65480	0.0:0.5746:0.0:0.4254	.	560;584	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	T	560;584	ENSP00000369670:I560T;ENSP00000298386:I584T	ENSP00000298386:I584T	I	+	2	0	RXFP2	31265190	0.000000	0.05858	0.260000	0.24451	0.290000	0.27261	0.032000	0.13732	-1.115000	0.02973	-0.290000	0.09829	ATT		0.289	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
ZC3H13	23091	hgsc.bcm.edu	37	13	46549583	46549583	+	Missense_Mutation	SNP	C	C	A	rs565588902	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr13:46549583C>A	ENST00000242848.4	-	12	2651	c.2303G>T	c.(2302-2304)cGa>cTa	p.R768L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R768L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	768	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttctcgctctcgctctctctc	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0			13											292.0	224.0	247.0					13																	46549583		2203	4299	6502	45447584	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2303G>T	13.37:g.46549583C>A	ENSP00000242848:p.Arg768Leu		45447584	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	14.36	2.512985	0.44660	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.39997	2.04;1.05	5.0	5.0	0.66597	.	0.000000	0.46145	D	0.000317	T	0.65439	0.2691	.	.	.	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.79108	0.982;0.992	T	0.66015	-0.6028	9	0.44086	T	0.13	.	18.2552	0.90017	0.0:1.0:0.0:0.0	.	768;768	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	L	768	ENSP00000242848:R768L;ENSP00000282007:R768L	ENSP00000242848:R768L	R	-	2	0	ZC3H13	45447584	0.400000	0.25295	0.726000	0.30738	0.979000	0.70002	6.177000	0.71961	2.483000	0.83821	0.563000	0.77884	CGA		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
PFKP	5214	hgsc.bcm.edu	37	10	3175426	3175426	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr10:3175426G>A	ENST00000381125.4	+	19	2018	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	PFKP_ENST00000381072.1_Missense_Mutation_p.D66N|PFKP_ENST00000381075.2_Missense_Mutation_p.D640N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	648	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTACACCACCGACTTCATTTA	0.527																																																	0			10											167.0	162.0	164.0					10																	3175426		2203	4300	6503	3165426	SO:0001583	missense	5214			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1942G>A	10.37:g.3175426G>A	ENSP00000370517:p.Asp648Asn		3165426	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	35	5.431723	0.96150	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.76448	-1.02;-1.02;-1.02	5.15	5.15	0.70609	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71870	0.975;0.975;0.975	D	0.88057	0.2791	10	0.87932	D	0	.	18.664	0.91481	0.0:0.0:1.0:0.0	.	640;640;648	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	N	648;637;640;66	ENSP00000370517:D648N;ENSP00000370465:D640N;ENSP00000370462:D66N	ENSP00000370462:D66N	D	+	1	0	PFKP	3165426	1.000000	0.71417	0.992000	0.48379	0.904000	0.53231	9.436000	0.97532	2.409000	0.81822	0.563000	0.77884	GAC		0.527	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	
CUBN	8029	hgsc.bcm.edu	37	10	16990490	16990490	+	Silent	SNP	G	G	A	rs182162293	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr10:16990490G>A	ENST00000377833.4	-	35	5261	c.5196C>T	c.(5194-5196)acC>acT	p.T1732T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1732	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACTGATGCGGTGACCGTGG	0.522													A|||	5	0.000998403	0.0038	0.0	5008	,	,		19037	0.0		0.0	False		,,,				2504	0.0																0			10						A		5,4401	825.8+/-416.5	0,5,2198	80.0	68.0	72.0		5196	-11.1	0.0	10		72	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous	CUBN	NM_001081.3		0,7,6496	AA,AG,GG		0.0233,0.1135,0.0538		1732/3624	16990490	7,12999	2203	4300	6503	17030496	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5196C>T	10.37:g.16990490G>A			17030496	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
MKX	283078	hgsc.bcm.edu	37	10	28030376	28030376	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr10:28030376C>T	ENST00000375790.5	-	3	678	c.246G>A	c.(244-246)gcG>gcA	p.A82A	MKX_ENST00000419761.1_Silent_p.A82A			Q8IYA7	MKX_HUMAN	mohawk homeobox	82					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGAGGGGTCGCGCCATGTCTT	0.642																																																	0			10											130.0	92.0	105.0					10																	28030376		2203	4300	6503	28070382	SO:0001819	synonymous_variant	283078			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.246G>A	10.37:g.28030376C>T			28070382	B3KWM5	Silent	SNP	ENST00000375790.5	37	CCDS7156.1																																																																																				0.642	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576	
ARID5B	84159	hgsc.bcm.edu	37	10	63850716	63850716	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr10:63850716A>G	ENST00000279873.7	+	10	1904	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E	ARID5B_ENST00000309334.5_Silent_p.E255E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	498					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAAAAATAGAAGGGTATCAGG	0.468																																																	0			10											78.0	80.0	79.0					10																	63850716		2203	4300	6503	63520722	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1494A>G	10.37:g.63850716A>G			63520722	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				0.468	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
ADRB1	153	hgsc.bcm.edu	37	10	115804357	115804357	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr10:115804357C>T	ENST00000369295.2	+	1	552	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	156					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	TGCCCTGGACCGCTACCTCGC	0.682																																																	0			10											86.0	94.0	91.0					10																	115804357		2203	4300	6503	115794347	SO:0001583	missense	153			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.466C>T	10.37:g.115804357C>T	ENSP00000358301:p.Arg156Cys		115794347	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262950	0.59431	.	.	ENSG00000043591	ENST00000369295	D	0.97186	-4.28	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.99202	0.9723	H	0.99863	4.86	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98078	1.0402	10	0.87932	D	0	.	11.9543	0.52973	0.1737:0.8263:0.0:0.0	.	156	P08588	ADRB1_HUMAN	C	156	ENSP00000358301:R156C	ENSP00000358301:R156C	R	+	1	0	ADRB1	115794347	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.284000	0.43478	1.937000	0.56155	0.549000	0.68633	CGC		0.682	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1		
ICE1	23379	hgsc.bcm.edu	37	5	5461211	5461211	+	Silent	SNP	A	A	G	rs374313250		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:5461211A>G	ENST00000296564.7	+	13	1986	c.1764A>G	c.(1762-1764)ctA>ctG	p.L588L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		588					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCACAGACTATCTAGAGAAT	0.403																																																	0			5						G		0,3702		0,0,1851	112.0	110.0	111.0		1764	-9.1	0.0	5		111	1,8207		0,1,4103	no	coding-synonymous	KIAA0947	NM_015325.1		0,1,5954	GG,GA,AA		0.0122,0.0,0.0084		588/2267	5461211	1,11909	1851	4104	5955	5514211	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.1764A>G	5.37:g.5461211A>G			5514211	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	CCDS47187.1																																																																																				0.403	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
CTNND2	1501	hgsc.bcm.edu	37	5	11384790	11384790	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:11384790C>T	ENST00000304623.8	-	7	1353	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.P297P|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.P388P|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	388					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCAGGCTGCCCGGCCTCTGGA	0.697																																																	0			5											20.0	19.0	19.0					5																	11384790		2201	4299	6500	11437790	SO:0001819	synonymous_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1164G>A	5.37:g.11384790C>T			11437790	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.697	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33549336	33549336	+	Silent	SNP	C	C	T	rs149971505		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:33549336C>T	ENST00000504830.1	-	21	4613	c.4278G>A	c.(4276-4278)gcG>gcA	p.A1426A	ADAMTS12_ENST00000352040.3_Silent_p.A1341A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1426	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|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 cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACCTGCCACGCCTCACAGG	0.587										HNSCC(64;0.19)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.001		0.0	False		,,,				2504	0.0																0			5						C		0,4406		0,0,2203	53.0	52.0	52.0		4278	3.6	1.0	5	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS12	NM_030955.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1426/1595	33549336	1,13005	2203	4300	6503	33585093	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4278G>A	5.37:g.33549336C>T			33585093	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.587	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
FYB	2533	hgsc.bcm.edu	37	5	39202368	39202368	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:39202368C>A	ENST00000351578.6	-	2	885	c.695G>T	c.(694-696)aGg>aTg	p.R232M	FYB_ENST00000540520.1_Missense_Mutation_p.R242M|FYB_ENST00000512982.1_Missense_Mutation_p.R232M|FYB_ENST00000505428.1_Missense_Mutation_p.R232M|FYB_ENST00000515010.1_Missense_Mutation_p.R232M	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	232					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.R232T(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTTGGACCTGACTCCCAG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	5											78.0	78.0	78.0					5																	39202368		1837	4081	5918	39238125	SO:0001583	missense	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.695G>T	5.37:g.39202368C>A	ENSP00000316460:p.Arg232Met		39238125	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	7.201	0.593570	0.13875	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.26067	1.76;1.76;1.77;1.77;1.77	6.07	2.36	0.29203	.	0.863259	0.10719	N	0.642006	T	0.18759	0.0450	N	0.14661	0.345	0.09310	N	1	P;P	0.44877	0.845;0.845	B;P	0.44732	0.36;0.459	T	0.13522	-1.0506	10	0.54805	T	0.06	-2.9495	8.9822	0.35972	0.0:0.3638:0.0:0.6362	.	242;232	B4DLN2;O15117	.;FYB_HUMAN	M	232;232;232;232;242;232	ENSP00000316460:R232M;ENSP00000426346:R232M;ENSP00000425845:R232M;ENSP00000427114:R232M;ENSP00000442840:R242M	ENSP00000316460:R232M	R	-	2	0	FYB	39238125	0.819000	0.29175	0.018000	0.16275	0.201000	0.24016	0.986000	0.29590	0.175000	0.19841	0.655000	0.94253	AGG		0.507	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
TRIM23	373	hgsc.bcm.edu	37	5	64907524	64907524	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:64907524T>C	ENST00000231524.9	-	4	922	c.551A>G	c.(550-552)cAt>cGt	p.H184R	TRIM23_ENST00000274327.7_Missense_Mutation_p.H184R|TRIM23_ENST00000381018.3_Missense_Mutation_p.H184R|TRIM23_ENST00000508808.1_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	184					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTCAATGGCATGCACCTGGTG	0.438																																																	0			5											177.0	169.0	172.0					5																	64907524		2203	4300	6503	64943280	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.551A>G	5.37:g.64907524T>C	ENSP00000231524:p.His184Arg		64943280	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596372	0.86953	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.55413	0.52;0.52;0.52	5.14	5.14	0.70334	Zinc finger, B-box (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.56769	1.78	0.80722	D	1	D;D;D	0.63880	0.982;0.993;0.99	P;P;P	0.59424	0.634;0.855;0.857	T	0.69807	-0.5045	10	0.87932	D	0	.	15.2441	0.73493	0.0:0.0:0.0:1.0	.	184;184;184	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	R	184	ENSP00000231524:H184R;ENSP00000370406:H184R;ENSP00000274327:H184R	ENSP00000231524:H184R	H	-	2	0	TRIM23	64943280	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.630000	0.83225	2.055000	0.61198	0.402000	0.26972	CAT		0.438	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
NLN	57486	hgsc.bcm.edu	37	5	65105372	65105372	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:65105372G>A	ENST00000380985.5	+	10	1736	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	NLN_ENST00000502464.1_Missense_Mutation_p.V416M	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	520						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CGGAACAAATGTGGAAACTGA	0.358																																																	0			5											135.0	135.0	135.0					5																	65105372		2203	4300	6503	65141128	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1558G>A	5.37:g.65105372G>A	ENSP00000370372:p.Val520Met		65141128	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023205|5.023205	0.93462|0.93462	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000509935|ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	.|T;T;T	.|0.13657	.|2.57;2.57;2.57	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55497|0.55497	0.1924|0.1924	H|H	0.96861|0.96861	3.895|3.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.995	T|T	0.71344|0.71344	-0.4621|-0.4621	5|10	.|0.87932	.|D	.|0	-19.3343|-19.3343	19.7604|19.7604	0.96314|0.96314	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|197;520	.|Q96K48;Q9BYT8	.|.;NEUL_HUMAN	Y|M	116|520;416;520;230	.|ENSP00000370372:V520M;ENSP00000423214:V416M;ENSP00000427417:V230M	.|ENSP00000339283:V520M	C|V	+|+	2|1	0|0	NLN|NLN	65141128|65141128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	9.209000|9.209000	0.95087|0.95087	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.358	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
CD180	4064	hgsc.bcm.edu	37	5	66480370	66480370	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:66480370G>A	ENST00000256447.4	-	3	458	c.301C>T	c.(301-303)Cat>Tat	p.H101Y		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	101					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTTAATTGATGATGGCTTTGA	0.338																																																	0			5											99.0	100.0	99.0					5																	66480370		2202	4299	6501	66516126	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.301C>T	5.37:g.66480370G>A	ENSP00000256447:p.His101Tyr		66516126	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833783	0.16820	.	.	ENSG00000134061	ENST00000256447	T	0.57907	0.37	5.92	0.763	0.18459	.	1.321840	0.04670	N	0.410482	T	0.36496	0.0969	N	0.25485	0.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.56958	D	0.05	.	0.8682	0.01208	0.225:0.1353:0.2262:0.4136	.	101	Q99467	CD180_HUMAN	Y	101	ENSP00000256447:H101Y	ENSP00000256447:H101Y	H	-	1	0	CD180	66516126	0.000000	0.05858	0.002000	0.10522	0.654000	0.38779	-0.065000	0.11617	0.101000	0.17610	-0.169000	0.13324	CAT		0.338	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
PDE8B	8622	hgsc.bcm.edu	37	5	76621552	76621552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:76621552C>A	ENST00000264917.5	+	3	633	c.588C>A	c.(586-588)tgC>tgA	p.C196*	PDE8B_ENST00000333194.4_Nonsense_Mutation_p.C196*|PDE8B_ENST00000346042.3_Nonsense_Mutation_p.C196*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.C196*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.C176*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	196					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AAGCAGTGTGCAGGTACCTTC	0.308																																																	0			5											62.0	64.0	64.0					5																	76621552		2201	4300	6501	76657308	SO:0001587	stop_gained	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.588C>A	5.37:g.76621552C>A	ENSP00000264917:p.Cys196*		76657308	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Nonsense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	37	6.421137	0.97555	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000502945	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2628	0.66097	0.0:0.9291:0.0:0.0709	.	.	.	.	X	72;196;196;196;176;196;72	.	ENSP00000264917:C196X	C	+	3	2	PDE8B	76657308	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.761000	0.55242	2.743000	0.94032	0.650000	0.86243	TGC		0.308	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
PCSK1	5122	hgsc.bcm.edu	37	5	95729016	95729016	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:95729016C>T	ENST00000311106.3	-	14	2188	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.V604I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	651					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CGGCCCCCTACGCTGCTGCTG	0.552																																																	0			5											62.0	66.0	65.0					5																	95729016		2203	4300	6503	95754772	SO:0001583	missense	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1951G>A	5.37:g.95729016C>T	ENSP00000308024:p.Val651Ile		95754772	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849546	0.17034	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.66460	-0.05;-0.21	5.62	0.0182	0.14116	.	1.317330	0.04858	N	0.443482	T	0.42698	0.1214	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	0.16276	-1.0408	10	0.34782	T	0.22	-1.8736	2.6891	0.05116	0.1131:0.3695:0.1109:0.4065	.	604;651	E9PHA1;P29120	.;NEC1_HUMAN	I	651;604	ENSP00000308024:V651I;ENSP00000421600:V604I	ENSP00000308024:V651I	V	-	1	0	PCSK1	95754772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.012000	0.13287	-0.329000	0.08527	-0.797000	0.03246	GTA		0.552	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
APC	324	hgsc.bcm.edu	37	5	112164588	112164588	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:112164588A>G	ENST00000457016.1	+	14	2042	c.1662A>G	c.(1660-1662)cgA>cgG	p.R554R	APC_ENST00000257430.4_Silent_p.R554R|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.E50G|APC_ENST00000508376.2_Silent_p.R554R			P25054	APC_HUMAN	adenomatous polyposis coli	554	Leu-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.?(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)		TGTCTTGGCGAGCAGATGTAA	0.303		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"""	1	Unknown(1)	skin(1)	5											123.0	130.0	128.0					5																	112164588		2202	4300	6502	112192487	SO:0001819	synonymous_variant	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.1662A>G	5.37:g.112164588A>G			112192487	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.303	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175149	112175149	+	Silent	SNP	A	A	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:112175149A>G	ENST00000457016.1	+	16	4238	c.3858A>G	c.(3856-3858)gaA>gaG	p.E1286E	APC_ENST00000257430.4_Silent_p.E1286E|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.E1286E			P25054	APC_HUMAN	adenomatous polyposis coli	1286	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAAGATGAAATAGGATGTA	0.353		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"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)	5											55.0	57.0	56.0					5																	112175149		2202	4300	6502	112203048	SO:0001819	synonymous_variant	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.3858A>G	5.37:g.112175149A>G			112203048	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.353	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ZNF608	57507	hgsc.bcm.edu	37	5	123984308	123984308	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:123984308T>C	ENST00000306315.5	-	4	2204	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	ZNF608_ENST00000504926.1_Missense_Mutation_p.D163G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	590							metal ion binding (GO:0046872)	p.D590V(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTCCTCACTGTCAGGCTCGAA	0.483																																																	1	Substitution - Missense(1)	ovary(1)	5											234.0	199.0	210.0					5																	123984308		2203	4300	6503	124012207	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1769A>G	5.37:g.123984308T>C	ENSP00000307746:p.Asp590Gly		124012207	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863838	0.71949	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.61158	0.13;0.14	5.6	5.6	0.85130	.	0.196214	0.52532	D	0.000078	T	0.67804	0.2932	M	0.67397	2.05	0.80722	D	1	P	0.50272	0.933	P	0.52267	0.694	T	0.71755	-0.4497	10	0.66056	D	0.02	-28.9427	15.8007	0.78453	0.0:0.0:0.0:1.0	.	590	Q9ULD9	ZN608_HUMAN	G	163;590;590;590	ENSP00000427657:D163G;ENSP00000307746:D590G	ENSP00000307746:D590G	D	-	2	0	ZNF608	124012207	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	8.023000	0.88764	2.126000	0.65437	0.445000	0.29226	GAC		0.483	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811649	140811649	+	Silent	SNP	C	C	T	rs376415955		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:140811649C>T	ENST00000252085.3	+	1	1465	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	441	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGCTGAACGTGGCAGACA	0.552																																																	0			5						C	,,,,,,,,,,,,,,,,,,,,	0,4406		0,0,2203	63.0	70.0	67.0		1323,,,,,,,,,,,,,,,,,,,,1323	-9.6	0.0	5		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGA12,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032092.1,NM_032094.1	,,,,,,,,,,,,,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,,,,	441/933,,,,,,,,,,,,,,,,,,,,441/821	140811649	1,13005	2203	4300	6503	140791833	SO:0001819	synonymous_variant	26025			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1323C>T	5.37:g.140811649C>T			140791833	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																				0.552	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
CCDC69	26112	hgsc.bcm.edu	37	5	150585026	150585026	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:150585026T>C	ENST00000355417.2	-	2	233	c.59A>G	c.(58-60)gAa>gGa	p.E20G	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	20										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTTCTGGTTCTTGGCGCTT	0.572																																																	0			5											169.0	152.0	158.0					5																	150585026		2203	4300	6503	150565219	SO:0001583	missense	26112				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.59A>G	5.37:g.150585026T>C	ENSP00000347586:p.Glu20Gly		150565219	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326242	0.41197	.	.	ENSG00000198624	ENST00000355417	T	0.24151	1.87	4.32	3.16	0.36331	.	1.077990	0.07209	N	0.858869	T	0.14013	0.0339	N	0.08118	0	0.21256	N	0.999746	B	0.34290	0.447	B	0.33254	0.16	T	0.24621	-1.0155	10	0.52906	T	0.07	-1.8048	6.2558	0.20874	0.0:0.1135:0.0:0.8865	.	20	A6NI79	CCD69_HUMAN	G	20	ENSP00000347586:E20G	ENSP00000347586:E20G	E	-	2	0	CCDC69	150565219	0.931000	0.31567	0.883000	0.34634	0.804000	0.45430	0.858000	0.27845	0.705000	0.31890	0.454000	0.30748	GAA		0.572	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621	
ITK	3702	hgsc.bcm.edu	37	5	156649962	156649962	+	Silent	SNP	C	C	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:156649962C>T	ENST00000422843.3	+	6	737	c.585C>T	c.(583-585)aaC>aaT	p.N195N	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	195	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TGCGGCGCAACGAAGAGTACT	0.522			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0			5											134.0	124.0	128.0					5																	156649962		2203	4300	6503	156582540	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.585C>T	5.37:g.156649962C>T			156582540	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.522	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
FAM71D	161142	hgsc.bcm.edu	37	14	67669810	67669810	+	Splice_Site	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr14:67669810G>A	ENST00000556046.1	+	5	700		c.e5-1					Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TCTGCACTCAGGTCAACAGAA	0.463																																																	0			14											90.0	78.0	82.0					14																	67669810		2203	4300	6503	66739563	SO:0001630	splice_region_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.259-1G>A	14.37:g.67669810G>A			66739563	Q86VN4	Splice_Site	SNP	ENST00000556046.1	37		.	.	.	.	.	.	.	.	.	.	G	19.59	3.856099	0.71834	.	.	ENSG00000172717	ENST00000524532;ENST00000530728	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9156	0.79512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM71D	66739563	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.656000	0.67988	2.485000	0.83878	0.643000	0.83706	.		0.463	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526	Intron
PTPRJ	5795	hgsc.bcm.edu	37	11	48171647	48171647	+	Splice_Site	SNP	G	G	T			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:48171647G>T	ENST00000418331.2	+	18	3402		c.e18-1			NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J						contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTTTTCTTAGATCTAAGTTA	0.338																																																	0			11											92.0	96.0	95.0					11																	48171647		2201	4298	6499	48128223	SO:0001630	splice_region_variant	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3051-1G>T	11.37:g.48171647G>T			48128223	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Splice_Site	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430207	0.43122	.	.	ENSG00000149177	ENST00000418331	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1524	0.72709	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRJ	48128223	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	3.169000	0.50809	2.650000	0.89964	0.561000	0.74099	.		0.338	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		Intron
DNAJC21	134218	hgsc.bcm.edu	37	5	34945131	34945131	+	Splice_Site	SNP	G	G	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:34945131G>A	ENST00000342382.4	+	8	1369		c.e8+1		DNAJC21_ENST00000303525.7_Splice_Site|DNAJC21_ENST00000382021.2_Splice_Site			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAAAACAAAAGTACTTCTAAA	0.343																																																	0			5											74.0	81.0	79.0					5																	34945131		2203	4300	6503	34980888	SO:0001630	splice_region_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1142+1G>A	5.37:g.34945131G>A			34980888	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Splice_Site	SNP	ENST00000342382.4	37	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476209	0.44044	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	.	.	.	5.83	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3776	0.74621	0.0:0.1386:0.8614:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC21	34980888	1.000000	0.71417	0.996000	0.52242	0.505000	0.33919	7.992000	0.88273	1.465000	0.48006	0.655000	0.94253	.		0.343	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283	Intron
CHRM3	1131	hgsc.bcm.edu	37	1	240072443	240072444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:240072443_240072444insA	ENST00000255380.4	+	5	2471_2472	c.1692_1693insA	c.(1693-1695)aaafs	p.K565fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	565					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCAGTGTGACAAAAAAAAGAG	0.505																																																	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|breast(1)	1																																								238139067	SO:0001589	frameshift_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1700dupA	1.37:g.240072451_240072451dupA	ENSP00000255380:p.Lys565fs		238139066	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Ins	INS	ENST00000255380.4	37	CCDS1616.1																																																																																				0.505	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del		238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.678	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
TAF1B	9014	hgsc.bcm.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																																	0			2								139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	9907022	SO:0001589	frameshift_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs		9907022	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	CCDS33143.1																																																																																				0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236047	+	Stop_Codon_Del	DEL	AA	AA	-	rs71403164|rs35060021	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:152236046_152236047delAA	ENST00000243347.3	+	0	908_909					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAAA	0.287																																																	0			2																																								151944293	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236056_152236057delAA			151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				0.287	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
SPATS2L	26010	hgsc.bcm.edu	37	2	201281141	201281142	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr2:201281141_201281142insA	ENST00000358677.5	+	5	435_436	c.188_189insA	c.(187-192)ggaaaafs	p.GK63fs	SPATS2L_ENST00000451764.2_Frame_Shift_Ins_p.GK63fs|SPATS2L_ENST00000409755.3_Frame_Shift_Ins_p.GK93fs|SPATS2L_ENST00000409151.1_Frame_Shift_Ins_p.GK71fs|SPATS2L_ENST00000360760.5_Frame_Shift_Ins_p.GK63fs|SPATS2L_ENST00000409385.1_Frame_Shift_Ins_p.GK3fs|SPATS2L_ENST00000409988.3_Frame_Shift_Ins_p.GK63fs|SPATS2L_ENST00000409140.3_Frame_Shift_Ins_p.GK63fs|SPATS2L_ENST00000409718.1_Frame_Shift_Ins_p.GK63fs	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	63						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AATATGACAGGAAAAAAGAAGG	0.297																																																	0			2																																								200989387	SO:0001589	frameshift_variant	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.194dupA	2.37:g.201281147_201281147dupA	ENSP00000351503:p.Gly63fs		200989386	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Frame_Shift_Ins	INS	ENST00000358677.5	37	CCDS46483.1																																																																																				0.297	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
OXSM	54995	hgsc.bcm.edu	37	3	25833044	25833045	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:25833044_25833045insG	ENST00000280701.3	+	2	632_633	c.533_534insG	c.(532-537)ttttttfs	p.F178fs	OXSM_ENST00000420173.2_Frame_Shift_Ins_p.F178fs|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	178					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTAGCCCATTTTTTGTCCCTA	0.426																																																	0			3																																								25808049	SO:0001589	frameshift_variant	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	Exception_encountered	3.37:g.25833044_25833045insG	ENSP00000280701:p.Phe178fs		25808048		Frame_Shift_Ins	INS	ENST00000280701.3	37	CCDS2643.1																																																																																				0.426	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
MUC4	4585	hgsc.bcm.edu	37	3	195506713	195506760	+	In_Frame_Del	DEL	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	-	rs62282473|rs550221890|rs62282471|rs200597845|rs201121891|rs9882363|rs192522651|rs62282470|rs554841787|rs201914190|rs200055147|rs181895767|rs374267078|rs199635197|rs201530419|rs200381819|rs201961213	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr3:195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENST00000463781.3	-	2	12150_12197	c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	c.(11689-11739)gcatccacacgtcacgccacccctcttcctgtcaccgacacttcctcagct>gct	p.3897_3913ASTRHATPLPVTDTSSA>A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.3897_3913ASTRHATPLPVTDTSSA>A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)	p.A3902V(2)|p.P3904S(2)|p.A3902T(1)		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)		ATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG	0.593																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)	3							,,	327,1561		144,39,761					,,		0.0			8	1397,2107		610,177,965	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	754,216,1726	A1A1,A1R,RR		39.8687,17.3199,31.9733	,,	,,		1724,3668				196991539	SO:0001651	inframe_deletion	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	ENST00000463781.3:c.11691_11738delATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGC	3.37:g.195506713_195506760delGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGAT	ENSP00000417498:p.Ala3897_Ser3912del		196991492	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.593	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ADAM29	11086	hgsc.bcm.edu	37	4	175899072	175899098	+	In_Frame_Del	DEL	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT	-	rs140568401|rs141115697|rs61744599|rs137958266|rs538790099|rs199709256|rs146933346|rs151310201	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr4:175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENST00000359240.3	+	5	3066_3092	c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	c.(2395-2424)gtgacaccctcccagaggcaacctcagttg>gtg	p.TPSQRQPQL800del	ADAM29_ENST00000404450.4_In_Frame_Del_p.TPSQRQPQL800del|ADAM29_ENST00000514159.1_In_Frame_Del_p.TPSQRQPQL800del|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_In_Frame_Del_p.TPSQRQPQL800del	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		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)		CAACCTCCTGTGACACCCTCCCAGAGGCAACCTCAGTTGATGCCTTC	0.577																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	lung(1)	4																																								176135673	SO:0001651	inframe_deletion	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.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	4.37:g.175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENSP00000352177:p.Thr800_Leu808del		176135647	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	In_Frame_Del	DEL	ENST00000359240.3	37	CCDS3823.1																																																																																				0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
APC	324	hgsc.bcm.edu	37	5	112163644	112163644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr5:112163644delA	ENST00000457016.1	+	13	1947	c.1567delA	c.(1567-1569)aaafs	p.K523fs	APC_ENST00000257430.4_Frame_Shift_Del_p.K523fs|CTC-554D6.1_ENST00000520401.1_Frame_Shift_Del_p.*18fs|APC_ENST00000508376.2_Frame_Shift_Del_p.K523fs			P25054	APC_HUMAN	adenomatous polyposis coli	523	Leu-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.?(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)		ATGCTCTATGAAAGGCTGCAT	0.343		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"""	1	Unknown(1)	skin(1)	5											86.0	85.0	85.0					5																	112163644		2202	4300	6502	112191543	SO:0001589	frameshift_variant	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.1567delA	5.37:g.112163644delA	ENSP00000413133:p.Lys523fs		112191543	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
HLA-DRB1	3123	hgsc.bcm.edu	37	6	32549580	32549580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr6:32549580delG	ENST00000360004.5	-	3	511	c.406delC	c.(406-408)cagfs	p.Q136fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	136	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGCAGGGGCTGGGTCTTTGAA	0.512										Multiple Myeloma(14;0.17)																																							0			6											70.0	87.0	81.0					6																	32549580		1510	2709	4219	32657558	SO:0001589	frameshift_variant	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.406delC	6.37:g.32549580delG	ENSP00000353099:p.Gln136fs		32657558	P01914|Q9MYF5	Frame_Shift_Del	DEL	ENST00000360004.5	37	CCDS47409.1																																																																																				0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	
MUC2	4583	hgsc.bcm.edu	37	11	1092802	1092802	+	Frame_Shift_Del	DEL	A	A	-	rs528672869|rs534872608	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:1092802delA	ENST00000441003.2	+	30	4648	c.4621delA	c.(4621-4623)accfs	p.T1545fs	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1546fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cactcccatcaccaccaccac	0.627													|||unknown(ALL_OTHER_Ns)	1941	0.38758	0.3911	0.3876	5008	,	,		6166	0.3403		0.3777	False		,,,				2504	0.4417																0			11											25.0	50.0	41.0					11																	1092802		1636	2920	4556	1082802	SO:0001589	frameshift_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4621delA	11.37:g.1092802delA	ENSP00000415183:p.Thr1545fs		1082802	Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643183	1643203	+	In_Frame_Del	DEL	GGAGCCACAGCCCCCACAGCC	GGAGCCACAGCCCCCACAGCC	-	rs545892989	byFrequency	TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	GGAGCCACAGCCCCCACAGCC	GGAGCCACAGCCCCCACAGCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr11:1643183_1643203delGGAGCCACAGCCCCCACAGCC	ENST00000399682.1	-	1	165_185	c.121_141delGGCTGTGGGGGCTGTGGCTCC	c.(121-141)ggctgtgggggctgtggctccdel	p.GCGGCGS41del		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCAGCTGGagccacagcccccacagccggagccacag	0.697																																																	0			11																																								1599779	SO:0001651	inframe_deletion	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.121_141delGGCTGTGGGGGCTGTGGCTCC	11.37:g.1643183_1643203delGGAGCCACAGCCCCCACAGCC	ENSP00000382590:p.Gly41_Ser47del		1599759		In_Frame_Del	DEL	ENST00000399682.1	37																																																																																					0.697	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
LTK	4058	hgsc.bcm.edu	37	15	41797016	41797016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr15:41797016delG	ENST00000263800.6	-	17	2171	c.2075delC	c.(2074-2076)ccafs	p.P692fs	LTK_ENST00000561619.1_Frame_Shift_Del_p.P390fs|LTK_ENST00000453182.2_Frame_Shift_Del_p.P562fs|LTK_ENST00000355166.5_Frame_Shift_Del_p.P631fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAAGGCCTCTGGGGGCATCCA	0.587										TSP Lung(18;0.14)																																							0			15							,,	3,4261		1,1,2130	51.0	56.0	55.0		,,	-1.7	1.0	15		55	3,8251		1,1,4125	no	frameshift,frameshift,frameshift	LTK	NM_206961.3,NM_002344.5,NM_001135685.1	,,	2,2,6255	A1A1,A1R,RR		0.0363,0.0704,0.0479	,,	,,	41797016	6,12512	2203	4300	6503	39584308	SO:0001589	frameshift_variant	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2075delC	15.37:g.41797016delG	ENSP00000263800:p.Pro692fs		39584308	A6NNJ8|B4DL89|E9PFX4	Frame_Shift_Del	DEL	ENST00000263800.6	37	CCDS10077.1																																																																																				0.587	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
TNFRSF13B	23495	hgsc.bcm.edu	37	17	16843766	16843767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr17:16843766_16843767insC	ENST00000261652.2	-	4	516_517	c.504_505insG	c.(502-507)gggctcfs	p.L169fs	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Frame_Shift_Ins_p.L123fs|TNFRSF13B_ENST00000437538.2_Frame_Shift_Ins_p.L123fs|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	169					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CACAGGCAGAGCCCCAGCGTGC	0.649									IgA Deficiency, Selective																																								0			17																																								16784492	SO:0001589	frameshift_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.505dupG	17.37:g.16843770_16843770dupC	ENSP00000261652:p.Leu169fs		16784491	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Frame_Shift_Ins	INS	ENST00000261652.2	37	CCDS11181.1																																																																																				0.649	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2		
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-DC-6682-01A-11D-1826-10	TCGA-DC-6682-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	d46cd6df-41f9-4872-9b7a-0dd025046a69	0e685c06-968a-45dd-90b0-ccd2ee41e816	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
