#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
THSD7A	221981	hgsc.bcm.edu	37	7	11632944	11632944	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:11632944C>T	ENST00000423059.4	-	3	1459	c.1208G>A	c.(1207-1209)tGt>tAt	p.C403Y		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	403	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AAATTCTGGACACTCCTTTTC	0.493										HNSCC(18;0.044)																																							0			7											91.0	87.0	88.0					7																	11632944		1912	4138	6050	11599469	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1208G>A	7.37:g.11632944C>T	ENSP00000406482:p.Cys403Tyr		11599469		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490382	0.64074	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.69306	-0.39	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94193	0.7443	10	0.66056	D	0.02	.	18.8505	0.92227	0.0:1.0:0.0:0.0	.	403	Q9UPZ6	THS7A_HUMAN	Y	403	ENSP00000406482:C403Y	ENSP00000262042:C403Y	C	-	2	0	THSD7A	11599469	1.000000	0.71417	0.898000	0.35279	0.387000	0.30353	7.484000	0.81180	2.460000	0.83146	0.561000	0.74099	TGT		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
DNAH11	8701	hgsc.bcm.edu	37	7	21659670	21659670	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:21659670C>A	ENST00000409508.3	+	25	4505	c.4474C>A	c.(4474-4476)Ctt>Att	p.L1492I	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Missense_Mutation_p.L1497I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1497	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGAACAACTTTTTGAAAC	0.313									Kartagener syndrome																																								0			7											73.0	65.0	67.0					7																	21659670		1808	4068	5876	21626195	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4474C>A	7.37:g.21659670C>A	ENSP00000475939:p.Leu1492Ile		21626195	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	13.90	2.374400	0.42105	.	.	ENSG00000105877	ENST00000328843	T	0.60424	0.19	4.9	4.0	0.46444	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	T	0.61261	0.2333	.	.	.	0.50171	D	0.999855	D	0.89917	1.0	D	0.87578	0.998	T	0.59467	-0.7449	9	0.02654	T	1	.	12.2648	0.54672	0.0:0.9146:0.0:0.0854	.	1497	Q96DT5	DYH11_HUMAN	I	1497	ENSP00000330671:L1497I	ENSP00000330671:L1497I	L	+	1	0	DNAH11	21626195	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	5.472000	0.66768	1.127000	0.42034	0.563000	0.77884	CTT		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
ABCA13	154664	hgsc.bcm.edu	37	7	48559814	48559814	+	Missense_Mutation	SNP	G	G	A	rs369296047		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:48559814G>A	ENST00000435803.1	+	53	13999	c.13975G>A	c.(13975-13977)Gtg>Atg	p.V4659M	ABCA13_ENST00000544596.1_Missense_Mutation_p.V389M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4659					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGATCTTCGTGCAACTGGC	0.502																																																	0			7						G	MET/VAL	1,3889		0,1,1944	92.0	85.0	87.0		13975	1.7	0.0	7		87	0,8294		0,0,4147	no	missense	ABCA13	NM_152701.3	21	0,1,6091	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging	4659/5059	48559814	1,12183	1945	4147	6092	48530360	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13975G>A	7.37:g.48559814G>A	ENSP00000411096:p.Val4659Met		48530360	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434944	0.25813	2.57E-4	0.0	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.86956	-2.19;-2.19;-2.19	5.14	1.69	0.24217	.	0.326853	0.22054	N	0.065280	D	0.87079	0.6088	L	0.55481	1.735	0.24740	N	0.993046	P;D;D	0.69078	0.873;0.967;0.997	B;B;P	0.55011	0.26;0.308;0.766	T	0.78595	-0.2143	10	0.62326	D	0.03	.	7.507	0.27551	0.3172:0.0:0.6828:0.0	.	389;2361;4659	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	M	4659;432;389	ENSP00000411096:V4659M;ENSP00000391042:V432M;ENSP00000442634:V389M	ENSP00000391042:V432M	V	+	1	0	ABCA13	48530360	0.574000	0.26684	0.023000	0.16930	0.129000	0.20672	0.706000	0.25690	0.413000	0.25759	0.655000	0.94253	GTG		0.502	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
C7orf66	154907	hgsc.bcm.edu	37	7	108524300	108524300	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:108524300G>T	ENST00000379007.2	-	2	166	c.112C>A	c.(112-114)Ctc>Atc	p.L38I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	38						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GAAAGAATGAGTACAGCCTAT	0.453																																																	0			7											113.0	100.0	105.0					7																	108524300		2203	4300	6503	108311536	SO:0001583	missense	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.112C>A	7.37:g.108524300G>T	ENSP00000368292:p.Leu38Ile		108311536		Missense_Mutation	SNP	ENST00000379007.2	37	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122770	0.20877	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.47	-0.68	0.11346	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	P	0.36633	0.562	B	0.35353	0.201	T	0.21245	-1.0251	7	.	.	.	.	4.288	0.10863	0.2242:0.3681:0.4077:0.0	.	38	A4D0T2	CG066_HUMAN	I	38	.	.	L	-	1	0	C7orf66	108311536	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.244000	0.18124	-0.149000	0.11215	0.563000	0.77884	CTC		0.453	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607	
PDIA4	9601	hgsc.bcm.edu	37	7	148701158	148701158	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:148701158C>T	ENST00000286091.4	-	10	1898	c.1666G>A	c.(1666-1668)Ggg>Agg	p.G556R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	556	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTGCAGTGCCCGCACCATGGC	0.577																																																	0			7											146.0	136.0	139.0					7																	148701158		2203	4300	6503	148332091	SO:0001583	missense	9601			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1666G>A	7.37:g.148701158C>T	ENSP00000286091:p.Gly556Arg		148332091	A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800099	0.90538	.	.	ENSG00000155660	ENST00000286091	T	0.10099	2.91	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56649	-0.7944	10	0.87932	D	0	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	556	P13667	PDIA4_HUMAN	R	556	ENSP00000286091:G556R	ENSP00000286091:G556R	G	-	1	0	PDIA4	148332091	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	7.574000	0.82434	2.751000	0.94390	0.555000	0.69702	GGG		0.577	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	
KMT2C	58508	hgsc.bcm.edu	37	7	151962211	151962211	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr7:151962211A>G	ENST00000262189.6	-	8	1314	c.1096T>C	c.(1096-1098)Tat>Cat	p.Y366H	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y366H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	366					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTCCATGATAGTGCTGACCA	0.448																																																	0			7											389.0	349.0	362.0					7																	151962211		2203	4300	6503	151593144	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1096T>C	7.37:g.151962211A>G	ENSP00000262189:p.Tyr366His		151593144	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024678	0.35701	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99089	-5.41;-5.41	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38111	U	0.001814	D	0.99180	0.9716	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99406	1.0929	10	0.87932	D	0	.	14.395	0.67005	1.0:0.0:0.0:0.0	.	366	Q8NEZ4	MLL3_HUMAN	H	366	ENSP00000262189:Y366H;ENSP00000347325:Y366H	ENSP00000262189:Y366H	Y	-	1	0	MLL3	151593144	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	9.287000	0.95975	1.843000	0.53566	0.455000	0.32223	TAT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
FASTKD5	60493	hgsc.bcm.edu	37	20	3127926	3127926	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:3127926G>A	ENST00000380266.3	-	2	2112	c.1791C>T	c.(1789-1791)aaC>aaT	p.N597N	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	597					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATGGCTTCAGGTTAACATCAA	0.468																																																	0			20											61.0	69.0	67.0					20																	3127926		2201	4300	6501	3075926	SO:0001819	synonymous_variant	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1791C>T	20.37:g.3127926G>A			3075926	Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	CCDS13048.1																																																																																				0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826	
PLCB4	5332	hgsc.bcm.edu	37	20	9459613	9459613	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:9459613C>T	ENST00000378493.1	+	35	3520	c.3505C>T	c.(3505-3507)Cgc>Tgc	p.R1169C	PLCB4_ENST00000334005.3_Missense_Mutation_p.P1181L|PLCB4_ENST00000278655.4_Missense_Mutation_p.R1169C|PLCB4_ENST00000414679.2_Missense_Mutation_p.R1181C|PLCB4_ENST00000378473.3_Missense_Mutation_p.R1181C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.P1181L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1169					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P1181Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGAGATGGACCGCAGACCAGC	0.443																																																	1	Substitution - Missense(1)	lung(1)	20											168.0	137.0	147.0					20																	9459613		2203	4300	6503	9407613	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3505C>T	20.37:g.9459613C>T	ENSP00000367754:p.Arg1169Cys		9407613	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813360|2.813360	0.50527|0.50527	.|.	.|.	ENSG00000101333|ENSG00000101333	ENST00000334005;ENST00000378501|ENST00000378473;ENST00000278655;ENST00000378493;ENST00000414679	T;T|T;T;T;T	0.19250|0.23147	2.16;2.16|2.11;2.11;2.11;1.92	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.129409|.	0.35646|.	N|.	0.003076|.	T|T	0.36386|0.36386	0.0965|0.0965	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	P|P;D;D	0.38642|0.64830	0.641|0.923;0.994;0.99	B|B;P;B	0.31547|0.47102	0.132|0.132;0.537;0.336	T|T	0.11131|0.11131	-1.0600|-1.0600	9|8	0.87932|0.52906	D|T	0|0.07	.|.	19.5796|19.5796	0.95461|0.95461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1181|1181;1016;1169	Q15147-4|E2QRH8;Q15147-2;Q15147	.|.;.;PLCB4_HUMAN	L|C	1181|1181;1169;1169;1017	ENSP00000334105:P1181L;ENSP00000367762:P1181L|ENSP00000367734:R1181C;ENSP00000278655:R1169C;ENSP00000367754:R1169C;ENSP00000390616:R1017C	ENSP00000334105:P1181L|ENSP00000278655:R1169C	P|R	+|+	2|1	0|0	PLCB4|PLCB4	9407613|9407613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	6.557000|6.557000	0.73937|0.73937	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
DEFB118	117285	hgsc.bcm.edu	37	20	29960872	29960872	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:29960872A>G	ENST00000253381.2	+	2	304	c.271A>G	c.(271-273)Aca>Gca	p.T91A		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	91					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGTTCACGACAGACTACTT	0.453																																																	0			20											120.0	112.0	115.0					20																	29960872		2203	4300	6503	29424533	SO:0001583	missense	117285			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.271A>G	20.37:g.29960872A>G	ENSP00000253381:p.Thr91Ala		29424533	Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948005	0.34377	.	.	ENSG00000131068	ENST00000253381	T	0.08634	3.07	2.3	-0.253	0.12996	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	P	0.51057	0.941	B	0.41036	0.346	T	0.34428	-0.9829	9	0.37606	T	0.19	.	2.8955	0.05689	0.4837:0.2616:0.0:0.2547	.	91	Q96PH6	DB118_HUMAN	A	91	ENSP00000253381:T91A	ENSP00000253381:T91A	T	+	1	0	DEFB118	29424533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.311000	0.02723	-0.076000	0.12775	0.528000	0.53228	ACA		0.453	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112	
PTPRT	11122	hgsc.bcm.edu	37	20	40827935	40827935	+	Silent	SNP	G	G	A	rs145661499		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:40827935G>A	ENST00000373187.1	-	16	2435	c.2436C>T	c.(2434-2436)agC>agT	p.S812S	PTPRT_ENST00000356100.2_Silent_p.S821S|PTPRT_ENST00000373201.1_Silent_p.S802S|PTPRT_ENST00000373190.1_Silent_p.S812S|PTPRT_ENST00000373193.3_Silent_p.S815S|PTPRT_ENST00000373198.4_Silent_p.S831S|PTPRT_ENST00000373184.1_Silent_p.S802S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	812					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S834R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCGGCTGGCGCTGAGCTTGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17978	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	20											220.0	229.0	226.0					20																	40827935		2052	4202	6254	40261349	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2436C>T	20.37:g.40827935G>A			40261349	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	CCDS42874.1																																																																																				0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ZNF334	55713	hgsc.bcm.edu	37	20	45130463	45130463	+	Silent	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:45130463A>G	ENST00000347606.4	-	5	1697	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	ZNF334_ENST00000457685.2_Silent_p.S467S|ZNF334_ENST00000593880.1_Silent_p.S528S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	505					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)	p.S505S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTACACTGACTGCAGTTTG	0.393																																																	1	Substitution - coding silent(1)	ovary(1)	20											166.0	154.0	158.0					20																	45130463		2203	4299	6502	44563870	SO:0001819	synonymous_variant	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1515T>C	20.37:g.45130463A>G			44563870	Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	CCDS33480.1																																																																																				0.393	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
PREX1	57580	hgsc.bcm.edu	37	20	47260971	47260971	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:47260971A>T	ENST00000371941.3	-	27	3599	c.3577T>A	c.(3577-3579)Ttg>Atg	p.L1193M	PREX1_ENST00000396220.1_Missense_Mutation_p.L1193M|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1193					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCGCTGCCCAAGTAGGAGCTG	0.547																																																	0			20											96.0	74.0	82.0					20																	47260971		2203	4300	6503	46694378	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3577T>A	20.37:g.47260971A>T	ENSP00000361009:p.Leu1193Met		46694378	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696023	0.68386	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.14	2.06	0.26882	.	0.000000	0.42548	U	0.000682	T	0.56232	0.1971	L	0.60455	1.87	0.47009	D	0.999287	D;D	0.89917	0.996;1.0	D;D	0.97110	0.944;1.0	T	0.53851	-0.8380	10	0.46703	T	0.11	.	11.0336	0.47787	0.2666:0.0:0.7334:0.0	.	1193;490	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	M	1193	ENSP00000361009:L1193M;ENSP00000379522:L1193M	ENSP00000361009:L1193M	L	-	1	2	PREX1	46694378	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.470000	0.35354	0.559000	0.29153	-0.146000	0.13790	TTG		0.547	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
GNAS	2778	hgsc.bcm.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T	rs373276011		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	1	Substitution - coding silent(1)	prostate(1)	20						C		2,4404	4.2+/-10.8	0,2,2201	79.0	81.0	80.0		309	4.2	1.0	20		80	0,8600		0,0,4300	no	coding-synonymous	GNAS	NM_016592.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		103/246	57415470	2,13004	2203	4300	6503	56848865	SO:0001819	synonymous_variant	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.309C>T	20.37:g.57415470C>T			56848865	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	CCDS13471.1																																																																																				0.627	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516	
OGFR	11054	hgsc.bcm.edu	37	20	61444569	61444569	+	Silent	SNP	A	A	G	rs3204348		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:61444569A>G	ENST00000290291.6	+	7	1627	c.1602A>G	c.(1600-1602)ccA>ccG	p.P534P	OGFR_ENST00000370461.1_Silent_p.P482P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	534	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.721																																																	0			20											11.0	17.0	15.0					20																	61444569		2124	4201	6325	60915014	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1602A>G	20.37:g.61444569A>G			60915014	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																				0.721	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
HELZ2	85441	hgsc.bcm.edu	37	20	62200924	62200924	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr20:62200924C>T	ENST00000467148.1	-	4	734	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	222					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCGCTCACCCCGTGCGTAGAG	0.672																																																	0			20											14.0	15.0	14.0					20																	62200924		2171	4273	6444	61671368	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.665G>A	20.37:g.62200924C>T	ENSP00000417401:p.Arg222Gln		61671368	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687124	0.00738	.	.	ENSG00000130589	ENST00000467148	T	0.02280	4.36	4.5	-2.48	0.06423	.	2.574830	0.01368	N	0.012460	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.43782	-0.9370	10	0.11182	T	0.66	-1.2993	3.1595	0.06515	0.1296:0.4269:0.1324:0.311	.	222	Q9BYK8	PR285_HUMAN	Q	222	ENSP00000417401:R222Q	ENSP00000417401:R222Q	R	-	2	0	RP4-697K14.7	61671368	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.036000	0.13819	-0.903000	0.03881	-0.471000	0.05019	CGG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
CBX6	23466	hgsc.bcm.edu	37	22	39262247	39262247	+	Silent	SNP	A	A	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr22:39262247A>C	ENST00000407418.3	-	5	1329	c.1206T>G	c.(1204-1206)gcT>gcG	p.A402A	CBX6_ENST00000216083.6_Silent_p.A384A			O95503	CBX6_HUMAN	chromobox homolog 6	402					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CACCGCCCCCAGCGGCGCCTG	0.637																																																	0			22											24.0	25.0	25.0					22																	39262247		2201	4299	6500	37592193	SO:0001819	synonymous_variant	23466				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1206T>G	22.37:g.39262247A>C			37592193	A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	CCDS13980.1																																																																																				0.637	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292	
SHANK3	85358	hgsc.bcm.edu	37	22	51117290	51117290	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr22:51117290G>A	ENST00000414786.2	+	5	769	c.542G>A	c.(541-543)cGc>cAc	p.R181H	SHANK3_ENST00000262795.3_Missense_Mutation_p.R181H|SHANK3_ENST00000445220.2_Missense_Mutation_p.R181H			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	181					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R181H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TTCCGCACTCGCGATGGGCTC	0.667																																																	1	Substitution - Missense(1)	endometrium(1)	22											34.0	37.0	36.0					22																	51117290		2119	4220	6339	49464156	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.542G>A	22.37:g.51117290G>A	ENSP00000464552:p.Arg181His		49464156	D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	G	13.61	2.287970	0.40494	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.18016	2.24;2.24	5.07	4.05	0.47172	.	.	.	.	.	T	0.27967	0.0689	L	0.41124	1.26	0.09310	N	1	D	0.76494	0.999	P	0.62491	0.903	T	0.03662	-1.1015	9	0.48119	T	0.1	.	10.5407	0.45031	0.0941:0.0:0.9059:0.0	.	181	F2Z3L0	.	H	181	ENSP00000442518:R181H;ENSP00000446078:R181H	ENSP00000442518:R181H	R	+	2	0	SHANK3	49464156	0.995000	0.38212	0.033000	0.17914	0.008000	0.06430	6.038000	0.70964	2.349000	0.79799	0.557000	0.71058	CGC		0.667	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420	
CCNB1IP1	57820	hgsc.bcm.edu	37	14	20784386	20784386	+	Splice_Site	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr14:20784386C>A	ENST00000398169.3	-	5	913	c.297G>T	c.(295-297)caG>caT	p.Q99H	CCNB1IP1_ENST00000437553.2_Splice_Site_p.Q99H|CCNB1IP1_ENST00000353689.4_Splice_Site_p.Q99H|CCNB1IP1_ENST00000358932.4_Splice_Site_p.Q99H|CCNB1IP1_ENST00000398160.2_Splice_Site_p.Q99H|CCNB1IP1_ENST00000398163.2_Splice_Site_p.Q99H			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	99					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAGCACTAACCTGATATGTCC	0.413			T	HMGA2	leiomyoma																																			Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	0			14											63.0	65.0	64.0					14																	20784386		2203	4300	6503	19854226	SO:0001630	splice_region_variant	57820			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.297+1G>T	14.37:g.20784386C>A			19854226		Missense_Mutation	SNP	ENST00000398169.3	37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722659	0.89298	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	6.07	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	M	0.84433	2.695	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.83214	-0.0072	8	.	.	.	-11.7759	14.171	0.65510	0.0:0.9276:0.0:0.0724	.	99	Q9NPC3	CIP1_HUMAN	H	99	.	.	Q	-	3	2	CCNB1IP1	19854226	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.287000	0.65645	1.578000	0.49821	0.655000	0.94253	CAG		0.413	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852	Missense_Mutation
KLHDC2	23588	hgsc.bcm.edu	37	14	50241377	50241377	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr14:50241377C>G	ENST00000298307.5	+	3	1193	c.332C>G	c.(331-333)tCa>tGa	p.S111*	KLHDC2_ENST00000557247.1_Nonsense_Mutation_p.S111*|KLHDC2_ENST00000554589.1_Nonsense_Mutation_p.S111*|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	111						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GGACACCATTCAAGAGGCAAT	0.393																																																	0			14											240.0	226.0	231.0					14																	50241377		2203	4300	6503	49311127	SO:0001587	stop_gained	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.332C>G	14.37:g.50241377C>G	ENSP00000298307:p.Ser111*		49311127	B3KPF9|Q6IAF0|Q86TY9	Nonsense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	C	44	10.884797	0.99483	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	.	.	.	5.86	5.86	0.93980	.	0.060409	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.0293	20.1781	0.98191	0.0:1.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000298307:S111X	S	+	2	0	KLHDC2	49311127	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.370000	0.59517	2.778000	0.95560	0.591000	0.81541	TCA		0.393	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
ATP5D	513	hgsc.bcm.edu	37	19	1242530	1242530	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:1242530C>T	ENST00000215375.2	+	2	318	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	ATP5D_ENST00000591660.1_Missense_Mutation_p.H73Y|ATP5D_ENST00000395633.1_Missense_Mutation_p.H73Y	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	73					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGCGGCCCACGTGCCCAC	0.657																																																	0			19											18.0	14.0	16.0					19																	1242530		2153	4218	6371	1193530	SO:0001583	missense	513			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.217C>T	19.37:g.1242530C>T	ENSP00000215375:p.His73Tyr		1193530	D6W5Y3|Q6FG90	Missense_Mutation	SNP	ENST00000215375.2	37	CCDS12058.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409910	0.96072	.	.	ENSG00000099624	ENST00000215375;ENST00000395633	.	.	.	5.12	5.12	0.69794	ATPase, F1 complex, delta/epsilon subunit, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91257	0.7244	H	0.99391	4.545	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94977	0.8122	9	0.87932	D	0	-12.6787	16.0299	0.80570	0.0:1.0:0.0:0.0	.	73	P30049	ATPD_HUMAN	Y	73	.	ENSP00000215375:H73Y	H	+	1	0	ATP5D	1193530	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	7.389000	0.79806	2.371000	0.80710	0.462000	0.41574	CAC		0.657	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449958.1	NM_001687	
SAFB	6294	hgsc.bcm.edu	37	19	5641841	5641841	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:5641841G>A	ENST00000292123.5	+	4	537	c.430G>A	c.(430-432)Gtt>Att	p.V144I	SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_De_novo_Start_OutOfFrame|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000586934.1_3'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	144					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V144I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAATGGAAGCGTTGCAGATTG	0.483																																					Colon(88;338 1345 6184 8214 20897)												1	Substitution - Missense(1)	ovary(1)	19											158.0	155.0	156.0					19																	5641841		2203	4300	6503	5592841	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.430G>A	19.37:g.5641841G>A	ENSP00000292123:p.Val144Ile		5592841	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103163	0.20632	.	.	ENSG00000160633	ENST00000292123	T	0.10288	2.89	5.7	4.67	0.58626	.	0.122641	0.36303	N	0.002678	T	0.08447	0.0210	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.32365	0.367;0.013;0.367;0.236;0.367	B;B;B;B;B	0.20577	0.03;0.002;0.03;0.03;0.03	T	0.19289	-1.0310	10	0.40728	T	0.16	-17.463	13.0308	0.58840	0.0745:0.0:0.9255:0.0	.	144;144;144;144;144	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	I	144	ENSP00000292123:V144I	ENSP00000292123:V144I	V	+	1	0	SAFB	5592841	0.826000	0.29277	0.076000	0.20297	0.234000	0.25298	2.253000	0.43205	1.411000	0.46957	0.557000	0.71058	GTT		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		
MAP2K7	5609	hgsc.bcm.edu	37	19	7975914	7975914	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:7975914G>A	ENST00000397979.3	+	7	779	c.725G>A	c.(724-726)cGc>cAc	p.R242H	MAP2K7_ENST00000545011.1_Missense_Mutation_p.R284H|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R242H|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.R258H	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GTCATCCACCGCGACGTCAAG	0.632																																																	0			19											39.0	44.0	42.0					19																	7975914		2131	4248	6379	7881914	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.725G>A	19.37:g.7975914G>A	ENSP00000381066:p.Arg242His		7881914	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397612	0.96009	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80725	-0.1254	10	0.87932	D	0	-5.6414	17.0918	0.86624	0.0:0.0:1.0:0.0	.	242;242	O14733-4;O14733	.;MP2K7_HUMAN	H	242;258;284;258;242	ENSP00000381068:R242H;ENSP00000381070:R258H;ENSP00000443946:R284H;ENSP00000381066:R242H	ENSP00000381066:R242H	R	+	2	0	MAP2K7	7881914	1.000000	0.71417	0.973000	0.42090	0.794000	0.44872	7.581000	0.82535	2.711000	0.92665	0.561000	0.74099	CGC		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
OR7C2	26658	hgsc.bcm.edu	37	19	15052431	15052431	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:15052431T>C	ENST00000248072.3	+	1	131	c.131T>C	c.(130-132)cTc>cCc	p.L44P		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGAAACCTGCTCATCATCCTG	0.517																																																	0			19											109.0	90.0	97.0					19																	15052431		2203	4300	6503	14913431	SO:0001583	missense	26658			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.131T>C	19.37:g.15052431T>C	ENSP00000248072:p.Leu44Pro		14913431	O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	t	12.32	1.902536	0.33628	.	.	ENSG00000127529	ENST00000248072	T	0.02890	4.12	4.11	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.407528	0.17826	U	0.160681	T	0.24275	0.0588	H	0.99026	4.405	0.52099	D	0.999944	D	0.76494	0.999	D	0.69824	0.966	T	0.03706	-1.1011	10	0.87932	D	0	.	7.8022	0.29180	0.0:0.1033:0.0:0.8967	.	44	O60412	OR7C2_HUMAN	P	44	ENSP00000248072:L44P	ENSP00000248072:L44P	L	+	2	0	OR7C2	14913431	0.000000	0.05858	0.990000	0.47175	0.266000	0.26442	-0.193000	0.09573	0.738000	0.32606	0.421000	0.28195	CTC		0.517	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1		
RYR1	6261	hgsc.bcm.edu	37	19	39070731	39070731	+	Missense_Mutation	SNP	G	G	A	rs193922875		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:39070731G>A	ENST00000359596.3	+	100	14474	c.14474G>A	c.(14473-14475)cGc>cAc	p.R4825H	RYR1_ENST00000355481.4_Missense_Mutation_p.R4820H|RYR1_ENST00000360985.3_Missense_Mutation_p.R4820H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4825			R -> C (in CCD). {ECO:0000269|PubMed:11709545}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AAGACGCTGCGCACCATCCTG	0.597																																																	0			19	GRCh37	CM064214	RYR1	M		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	104.0	73.0	83.0		14474,14459	4.6	1.0	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	4825/5039,4820/5034	39070731	1,13005	2203	4300	6503	43762571	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14474G>A	19.37:g.39070731G>A	ENSP00000352608:p.Arg4825His		43762571	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222307	0.58560	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98889	-5.21;-5.21;-5.21	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99227	0.9731	M	0.88031	2.925	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99177	1.0866	10	0.87932	D	0	.	17.129	0.86722	0.0:0.0:1.0:0.0	.	4820;4825	P21817-2;P21817	.;RYR1_HUMAN	H	4825;4820;4820	ENSP00000352608:R4825H;ENSP00000347667:R4820H;ENSP00000354254:R4820H	ENSP00000347667:R4820H	R	+	2	0	RYR1	43762571	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.646000	0.98474	2.357000	0.79964	0.462000	0.41574	CGC		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
LYPD4	147719	hgsc.bcm.edu	37	19	42342224	42342224	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:42342224C>T	ENST00000330743.3	-	4	1534	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.R73H|LYPD4_ENST00000343055.4_Missense_Mutation_p.R73H	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	108						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCGGCAGACGCGACTGTAGGA	0.527																																																	0			19											140.0	121.0	127.0					19																	42342224		2203	4300	6503	47034064	SO:0001583	missense	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.323G>A	19.37:g.42342224C>T	ENSP00000328737:p.Arg108His		47034064	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	c	9.958	1.222069	0.22457	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.11930	3.36;2.73	4.03	0.164	0.14990	.	0.403702	0.21602	N	0.071926	T	0.08935	0.0221	L	0.37697	1.125	0.20074	N	0.999937	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.003	T	0.32107	-0.9919	10	0.25106	T	0.35	-6.0779	6.7586	0.23528	0.0:0.6741:0.0:0.3259	.	73;108	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	H	108;73	ENSP00000328737:R108H;ENSP00000339568:R73H	ENSP00000328737:R108H	R	-	2	0	LYPD4	47034064	0.065000	0.20965	0.198000	0.23420	0.707000	0.40811	0.003000	0.13083	0.107000	0.17824	0.457000	0.33378	CGC		0.527	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	
PRR12	57479	hgsc.bcm.edu	37	19	50102730	50102730	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:50102730C>T	ENST00000418929.2	+	5	3892	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTCAGGCAAGCGCCACCCACC	0.637																																																	0			19											11.0	14.0	13.0					19																	50102730		2076	4198	6274	54794542	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3880C>T	19.37:g.50102730C>T	ENSP00000394510:p.Arg1294Cys		54794542	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864748	0.32977	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	5.2	5.2	0.72013	.	0.155289	0.30401	N	0.009701	T	0.69663	0.3136	L	0.50333	1.59	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	T	0.72087	-0.4396	9	0.87932	D	0	-25.7136	12.58	0.56386	0.1665:0.8334:0.0:0.0	.	1294	Q9ULL5-3	.	C	1294;474;474	.	ENSP00000246798:R474C	R	+	1	0	PRR12	54794542	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.755000	0.47540	2.424000	0.82194	0.563000	0.77884	CGC		0.637	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
ZNF473	25888	hgsc.bcm.edu	37	19	50542449	50542449	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:50542449A>G	ENST00000595661.1	+	4	536	c.41A>G	c.(40-42)gAc>gGc	p.D14G	ZNF473_ENST00000601364.1_Missense_Mutation_p.D14G|ZNF473_ENST00000445728.3_Missense_Mutation_p.D2G|ZNF473_ENST00000391821.2_Missense_Mutation_p.D14G|ZNF473_ENST00000270617.3_Missense_Mutation_p.D14G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTCGGCATGGACTTCACCTTG	0.577																																																	0			19											203.0	167.0	179.0					19																	50542449		2203	4300	6503	55234261	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.41A>G	19.37:g.50542449A>G	ENSP00000472808:p.Asp14Gly		55234261	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396859	0.42512	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.02140	4.43;4.43;4.43	5.11	2.98	0.34508	Krueppel-associated box (4);	0.164261	0.28940	N	0.013652	T	0.04318	0.0119	M	0.79693	2.465	0.28664	N	0.906004	B	0.31989	0.35	B	0.34652	0.187	T	0.12091	-1.0561	10	0.42905	T	0.14	-24.4293	6.3722	0.21487	0.7561:0.1595:0.0844:0.0	.	14	Q8WTR7	ZN473_HUMAN	G	14;14;2	ENSP00000270617:D14G;ENSP00000375697:D14G;ENSP00000388961:D2G	ENSP00000270617:D14G	D	+	2	0	ZNF473	55234261	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	6.197000	0.72100	0.485000	0.27652	0.528000	0.53228	GAC		0.577	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
LILRB4	11006	hgsc.bcm.edu	37	19	55179204	55179204	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:55179204A>G	ENST00000391736.1	+	13	1475	c.1160A>G	c.(1159-1161)aAg>aGg	p.K387R	LILRB4_ENST00000430952.2_Missense_Mutation_p.K386R|LILRB4_ENST00000391733.3_Missense_Mutation_p.K388R|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.K387R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	387					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CTGGACACAAAGGACAGACAG	0.597																																																	0			19											75.0	72.0	73.0					19																	55179204		2198	4299	6497	59871016	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1160A>G	19.37:g.55179204A>G	ENSP00000375616:p.Lys387Arg		59871016	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	A	4.613	0.113922	0.08831	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00500	7.13;7.13;7.13;7.15;6.96	2.36	-1.48	0.08745	.	.	.	.	.	T	0.00412	0.0013	L	0.52011	1.625	0.09310	N	1	B;B;B;B	0.34372	0.002;0.004;0.451;0.068	B;B;B;B	0.32289	0.001;0.001;0.143;0.014	T	0.40794	-0.9544	9	0.72032	D	0.01	.	3.0821	0.06266	0.4975:0.2272:0.2752:0.0	.	386;388;386;387	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	R	387;387;386;388;386	ENSP00000375616:K387R;ENSP00000270452:K387R;ENSP00000408995:K386R;ENSP00000375613:K388R;ENSP00000401962:K386R	ENSP00000270452:K387R	K	+	2	0	LILRB4	59871016	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.613000	0.24299	-0.688000	0.05155	-1.527000	0.00925	AAG		0.597	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
MCPH1	79648	hgsc.bcm.edu	37	8	6312726	6312726	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr8:6312726C>G	ENST00000344683.5	+	9	1964	c.1888C>G	c.(1888-1890)Ctc>Gtc	p.L630V		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	630					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTTTAAGGACCTCATCAAACC	0.338																																					Colon(95;1448 1467 8277 34473 35819)												0			8											141.0	134.0	136.0					8																	6312726		1845	4106	5951	6300134	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1888C>G	8.37:g.6312726C>G	ENSP00000342924:p.Leu630Val		6300134	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	5.816	0.334857	0.11013	.	.	ENSG00000147316	ENST00000344683	T	0.04119	3.7	5.75	4.88	0.63580	.	0.707440	0.12787	N	0.439213	T	0.11410	0.0278	M	0.65975	2.015	0.30937	N	0.726263	P	0.52316	0.952	P	0.49477	0.612	T	0.04593	-1.0940	10	0.38643	T	0.18	-8.3686	10.712	0.45988	0.0:0.913:0.0:0.087	.	630	Q8NEM0	MCPH1_HUMAN	V	630	ENSP00000342924:L630V	ENSP00000342924:L630V	L	+	1	0	MCPH1	6300134	0.002000	0.14202	0.026000	0.17262	0.394000	0.30568	1.142000	0.31540	1.430000	0.47334	0.650000	0.86243	CTC		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
NRG1	3084	hgsc.bcm.edu	37	8	32505823	32505823	+	Intron	SNP	G	G	A	rs550578958		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr8:32505823G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.R196Q|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCACCCACCCGGAACCCTGAG	0.498																																																	0			8											114.0	96.0	102.0					8																	32505823		2203	4300	6503	32625365	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31420G>A	8.37:g.32505823G>A			32625365	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759403	0.49468	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.77	3.87	0.44632	.	.	.	.	.	T	0.30479	0.0766	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.005	T	0.14504	-1.0470	8	0.35671	T	0.21	.	6.6639	0.23029	0.0877:0.0:0.6382:0.274	.	196;196	Q53F54;Q02297-10	.;.	Q	196;156	.	ENSP00000433289:R196Q	R	+	2	0	NRG1	32625365	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	2.660000	0.46749	2.885000	0.99019	0.655000	0.94253	CGG		0.498	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
CYP7B1	9420	hgsc.bcm.edu	37	8	65527711	65527711	+	Missense_Mutation	SNP	C	C	T	rs201867790		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr8:65527711C>T	ENST00000310193.3	-	4	1102	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	310					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R310Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTCTGGGTGCCGCAGAAGATA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18550	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	8						C	GLN/ARG	0,4406		0,0,2203	92.0	85.0	87.0		929	-1.7	1.0	8		87	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CYP7B1	NM_004820.3	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	310/507	65527711	3,13003	2203	4300	6503	65690265	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.929G>A	8.37:g.65527711C>T	ENSP00000310721:p.Arg310Gln		65690265	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.38	2.219232	0.39201	0.0	3.49E-4	ENSG00000172817	ENST00000310193	T	0.69685	-0.42	5.93	-1.71	0.08133	.	0.597985	0.19021	N	0.124813	T	0.52273	0.1724	L	0.37507	1.11	0.24162	N	0.995656	B	0.31519	0.327	B	0.31812	0.136	T	0.45425	-0.9262	10	0.39692	T	0.17	-29.0678	12.2283	0.54474	0.0:0.5489:0.0:0.4511	.	310	O75881	CP7B1_HUMAN	Q	310	ENSP00000310721:R310Q	ENSP00000310721:R310Q	R	-	2	0	CYP7B1	65690265	0.996000	0.38824	0.991000	0.47740	0.995000	0.86356	0.437000	0.21543	-0.221000	0.09973	-0.150000	0.13652	CGG		0.473	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
CSPP1	79848	hgsc.bcm.edu	37	8	68007881	68007881	+	Silent	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr8:68007881T>C	ENST00000262210.5	+	6	895	c.864T>C	c.(862-864)gaT>gaC	p.D288D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	323					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGACCAAGATCCTGAAGTAA	0.368																																																	0			8											65.0	60.0	61.0					8																	68007881		1841	4085	5926	68170435	SO:0001819	synonymous_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.864T>C	8.37:g.68007881T>C			68170435	A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	CCDS43744.1																																																																																				0.368	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
RUNX1T1	862	hgsc.bcm.edu	37	8	92982963	92982963	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr8:92982963G>A	ENST00000523629.1	-	11	1916	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R461C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R451C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R451C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R461C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R488C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R499C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R451C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	488					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCGACCGTGCGCTCCATCTTG	0.617																																																	0			8											82.0	68.0	73.0					8																	92982963		2203	4300	6503	93052139	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1462C>T	8.37:g.92982963G>A	ENSP00000428543:p.Arg488Cys		93052139	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022722	0.93462	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.80764	0.95;0.993;0.899;0.994	T	0.68484	-0.5396	10	0.87932	D	0	-17.0871	14.7957	0.69876	0.0:0.0:0.8558:0.1442	.	499;451;488;461	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	C	488;461;488;451;451;451;499;461	ENSP00000428543:R488C;ENSP00000379520:R461C;ENSP00000265814:R488C;ENSP00000353504:R451C;ENSP00000390137:R451C;ENSP00000428742:R451C;ENSP00000402257:R499C;ENSP00000430728:R461C	ENSP00000265814:R488C	R	-	1	0	RUNX1T1	93052139	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.871000	0.87180	2.729000	0.93468	0.655000	0.94253	CGC		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
CHD5	26038	hgsc.bcm.edu	37	1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:6228223C>T	ENST00000262450.3	-	2	293	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTTCTTCTTCCGCTTCCCTTT	0.592																																																	0			1											150.0	147.0	148.0					1																	6228223		2203	4300	6503	6150810	SO:0001583	missense	450091			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.194G>A	1.37:g.6228223C>T	ENSP00000262450:p.Arg65Gln		6150810	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643548	0.67244	.	.	ENSG00000116254	ENST00000262450	D	0.91577	-2.87	4.9	4.9	0.64082	.	0.167775	0.23393	U	0.048675	D	0.88727	0.6515	L	0.50333	1.59	0.80722	D	1	D	0.57571	0.98	B	0.44108	0.441	D	0.89741	0.3933	10	0.56958	D	0.05	-23.9777	14.7953	0.69873	0.0:1.0:0.0:0.0	.	65	Q8TDI0	CHD5_HUMAN	Q	65	ENSP00000262450:R65Q	ENSP00000262450:R65Q	R	-	2	0	CHD5	6150810	0.999000	0.42202	0.985000	0.45067	0.910000	0.53928	4.172000	0.58243	2.245000	0.73994	0.313000	0.20887	CGG		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
SLC2A7	155184	hgsc.bcm.edu	37	1	9078345	9078345	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:9078345C>T	ENST00000400906.1	-	5	525	c.526G>A	c.(526-528)Gtc>Atc	p.V176I		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	176					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACGATGACGAAAACCTCG	0.592																																																	0			1											110.0	94.0	100.0					1																	9078345		2203	4300	6503	9000932	SO:0001583	missense	155184			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.526G>A	1.37:g.9078345C>T	ENSP00000383698:p.Val176Ile		9000932	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	C	0.855	-0.737190	0.03111	.	.	ENSG00000197241	ENST00000400906	T	0.71698	-0.59	4.51	1.64	0.23874	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065540	0.56097	D	0.000021	T	0.33614	0.0869	N	0.01529	-0.815	0.27879	N	0.93975	B	0.23937	0.094	B	0.25759	0.063	T	0.41395	-0.9511	10	0.02654	T	1	.	6.7754	0.23617	0.0:0.5088:0.0:0.4912	.	176	Q6PXP3	GTR7_HUMAN	I	176	ENSP00000383698:V176I	ENSP00000383698:V176I	V	-	1	0	SLC2A7	9000932	0.991000	0.36638	0.022000	0.16811	0.573000	0.36030	1.766000	0.38491	0.173000	0.19788	0.561000	0.74099	GTC		0.592	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	
HECTD3	79654	hgsc.bcm.edu	37	1	45475346	45475346	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:45475346T>C	ENST00000372172.4	-	5	840	c.769A>G	c.(769-771)Aac>Gac	p.N257D	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	257	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CAGGACACGTTGAACTCCTCC	0.582																																																	0			1											59.0	58.0	59.0					1																	45475346		2119	4215	6334	45247933	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.769A>G	1.37:g.45475346T>C	ENSP00000361245:p.Asn257Asp		45247933	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.970021	0.34754	.	.	ENSG00000126107	ENST00000372172	T	0.71579	-0.58	4.9	4.9	0.64082	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	1.365760	0.04597	N	0.397844	T	0.58004	0.2092	N	0.08118	0	0.80722	D	1	B	0.28820	0.224	B	0.28553	0.091	T	0.10245	-1.0638	10	0.35671	T	0.21	.	14.8076	0.69968	0.0:0.0:0.0:1.0	.	257	Q5T447	HECD3_HUMAN	D	257	ENSP00000361245:N257D	ENSP00000361245:N257D	N	-	1	0	HECTD3	45247933	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.781000	0.62389	1.965000	0.57142	0.460000	0.39030	AAC		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
ZRANB2	9406	hgsc.bcm.edu	37	1	71536630	71536630	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:71536630C>G	ENST00000370920.3	-	7	864	c.563G>C	c.(562-564)aGt>aCt	p.S188T	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S188T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	188	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTCTTCTTCACTGGCATCAAG	0.358																																																	0			1											141.0	141.0	141.0					1																	71536630		2203	4300	6503	71309218	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.563G>C	1.37:g.71536630C>G	ENSP00000359958:p.Ser188Thr		71309218	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642269	0.47153	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.65549	-0.14;-0.16	6.06	6.06	0.98353	.	0.126820	0.85682	D	0.000000	T	0.40546	0.1121	N	0.24115	0.695	0.53005	D	0.99996	B;P	0.35612	0.378;0.512	B;B	0.35353	0.099;0.201	T	0.33650	-0.9860	10	0.31617	T	0.26	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	188;188	O95218;O95218-2	ZRAB2_HUMAN;.	T	188	ENSP00000359958:S188T;ENSP00000254821:S188T	ENSP00000254821:S188T	S	-	2	0	ZRANB2	71309218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	AGT		0.358	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	
MSH4	4438	hgsc.bcm.edu	37	1	76355053	76355053	+	Splice_Site	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:76355053A>G	ENST00000263187.3	+	16	2329	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	742					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAAATGAAAGAGGTACCCAAA	0.259								Mismatch excision repair (MMR)																																									0			1											49.0	57.0	54.0					1																	76355053		2188	4252	6440	76127641	SO:0001630	splice_region_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2226+1A>G	1.37:g.76355053A>G			76127641	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481979	0.84747	.	.	ENSG00000057468	ENST00000263187	D	0.90788	-2.73	5.31	5.31	0.75309	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	H	0.98314	4.2	0.58432	D	0.999999	D	0.56746	0.977	D	0.64687	0.928	D	0.98358	1.0547	10	0.87932	D	0	-23.0364	15.2688	0.73683	1.0:0.0:0.0:0.0	.	742	O15457	MSH4_HUMAN	G	742	ENSP00000263187:E742G	ENSP00000263187:E742G	E	+	2	0	MSH4	76127641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.958000	0.93099	2.019000	0.59389	0.528000	0.53228	GAG		0.259	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Missense_Mutation
ELTD1	64123	hgsc.bcm.edu	37	1	79383653	79383653	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:79383653A>G	ENST00000370742.3	-	11	1607	c.1544T>C	c.(1543-1545)cTc>cCc	p.L515P		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L515P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGAGATAGAGATGTATGCC	0.393																																																	1	Substitution - Missense(1)	ovary(1)	1											144.0	135.0	138.0					1																	79383653		1878	4110	5988	79156241	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1544T>C	1.37:g.79383653A>G	ENSP00000359778:p.Leu515Pro		79156241	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329922	0.81690	.	.	ENSG00000162618	ENST00000370742	T	0.60171	0.21	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84435	0.0579	9	.	.	.	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	515	Q9HBW9	ELTD1_HUMAN	P	515	ENSP00000359778:L515P	.	L	-	2	0	ELTD1	79156241	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	CTC		0.393	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
ASH1L	55870	hgsc.bcm.edu	37	1	155450113	155450113	+	Missense_Mutation	SNP	G	G	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:155450113G>C	ENST00000368346.3	-	3	3187	c.2548C>G	c.(2548-2550)Cct>Gct	p.P850A	ASH1L_ENST00000392403.3_Missense_Mutation_p.P850A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	850					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTAGAAGCAGGGATTTTTAAA	0.398																																																	0			1											99.0	108.0	105.0					1																	155450113		2202	4300	6502	153716737	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2548C>G	1.37:g.155450113G>C	ENSP00000357330:p.Pro850Ala		153716737	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	12.28	1.889539	0.33348	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88975	-2.45;-2.45	5.31	5.31	0.75309	.	0.217765	0.41001	D	0.000963	T	0.66147	0.2760	N	0.03608	-0.345	0.80722	D	1	B;B	0.24576	0.064;0.106	B;B	0.22880	0.019;0.042	T	0.69053	-0.5247	10	0.54805	T	0.06	.	12.1502	0.54046	0.0784:0.0:0.9216:0.0	.	850;850	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	850	ENSP00000357330:P850A;ENSP00000376204:P850A	ENSP00000357330:P850A	P	-	1	0	ASH1L	153716737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.767000	0.55288	2.768000	0.95171	0.650000	0.86243	CCT		0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
MSTO1	55154	hgsc.bcm.edu	37	1	155582325	155582325	+	Silent	SNP	C	C	T	rs140753725		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:155582325C>T	ENST00000245564.2	+	9	954	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MSTO1_ENST00000368341.4_Silent_p.P275P|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	310					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GCCTGCGACCCGAGCCACCTG	0.562																																																	0			1						C		0,4406		0,0,2203	76.0	71.0	73.0		930	-6.5	0.0	1	dbSNP_134	73	1,8599		0,1,4299	no	coding-synonymous	MSTO1	NM_018116.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		310/571	155582325	1,13005	2203	4300	6503	153848949	SO:0001819	synonymous_variant	55154			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.930C>T	1.37:g.155582325C>T			153848949	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	ENST00000245564.2	37	CCDS1114.1																																																																																				0.562	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116	
MSTO1	55154	hgsc.bcm.edu	37	1	155582339	155582339	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:155582339G>A	ENST00000245564.2	+	9	968	c.944G>A	c.(943-945)aGc>aAc	p.S315N	MSTO1_ENST00000368341.4_Missense_Mutation_p.S280N|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	315					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CCACCTGTCAGCTTCCCTTAC	0.582																																																	0			1											75.0	70.0	72.0					1																	155582339		2203	4300	6503	153848963	SO:0001583	missense	55154			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.944G>A	1.37:g.155582339G>A	ENSP00000245564:p.Ser315Asn		153848963	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.807686	0.00606	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.44881	0.91;0.91	3.44	-6.87	0.01671	Tubulin/FtsZ, GTPase domain (2);	1.094980	0.07025	N	0.827382	T	0.06005	0.0156	N	0.12182	0.205	0.09310	N	0.999999	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.0;0.002;0.001	T	0.27020	-1.0086	10	0.13470	T	0.59	.	11.1676	0.48552	0.2022:0.5097:0.288:0.0	.	260;315;280;137;315;315;315	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	N	315;280	ENSP00000245564:S315N;ENSP00000357325:S280N	ENSP00000245564:S315N	S	+	2	0	MSTO1	153848963	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.492000	0.06467	-3.214000	0.00213	-0.684000	0.03749	AGC		0.582	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116	
TOR1AIP1	26092	hgsc.bcm.edu	37	1	179886702	179886702	+	Silent	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:179886702A>G	ENST00000606911.2	+	10	1271	c.1080A>G	c.(1078-1080)gtA>gtG	p.V360V	TOR1AIP1_ENST00000528443.2_Silent_p.V361V|TOR1AIP1_ENST00000271583.3_Silent_p.V376V|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Silent_p.V239V			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	360	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CTCCTGAGGTAGAAACCACTG	0.448																																																	0			1											106.0	112.0	110.0					1																	179886702		2203	4300	6503	178153325	SO:0001819	synonymous_variant	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1080A>G	1.37:g.179886702A>G			178153325	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703622	0.30232	.	.	ENSG00000143337	ENST00000447964	.	.	.	5.87	-3.88	0.04205	.	.	.	.	.	.	.	.	.	.	.	0.21147	N	0.999772	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.9205	4.0535	0.09806	0.3966:0.1083:0.3899:0.1052	.	.	.	.	W	95	.	.	X	+	2	0	TOR1AIP1	178153325	0.000000	0.05858	0.000000	0.03702	0.743000	0.42351	-0.300000	0.08243	-1.045000	0.03250	-0.256000	0.11100	TAG		0.448	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602	
LAMC1	3915	hgsc.bcm.edu	37	1	183099546	183099546	+	Silent	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:183099546T>C	ENST00000258341.4	+	19	3605	c.3348T>C	c.(3346-3348)cgT>cgC	p.R1116R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1116	Domain II and I.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAATTAGCCGTTTACAGAATA	0.428																																																	0			1											91.0	86.0	87.0					1																	183099546		2203	4300	6503	181366169	SO:0001819	synonymous_variant	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3348T>C	1.37:g.183099546T>C			181366169	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
IVNS1ABP	10625	hgsc.bcm.edu	37	1	185269215	185269215	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:185269215G>A	ENST00000367498.3	-	13	2039	c.1417C>T	c.(1417-1419)Cca>Tca	p.P473S	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P255S|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	473					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGACCATATGGATCAGAGCCA	0.318																																																	0			1											112.0	105.0	107.0					1																	185269215		2203	4300	6503	183535838	SO:0001583	missense	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1417C>T	1.37:g.185269215G>A	ENSP00000356468:p.Pro473Ser		183535838	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173592	0.57584	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.76186	-0.11;-1.0	5.61	5.61	0.85477	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.63046	0.2478	N	0.05078	-0.115	0.80722	D	1	B;P;P	0.34955	0.005;0.477;0.477	B;B;B	0.40444	0.008;0.329;0.329	T	0.64495	-0.6394	10	0.38643	T	0.18	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	255;174;473	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	S	473;255	ENSP00000356468:P473S;ENSP00000375864:P255S	ENSP00000356468:P473S	P	-	1	0	IVNS1ABP	183535838	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	CCA		0.318	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
ITPKB	3707	hgsc.bcm.edu	37	1	226822488	226822488	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr1:226822488T>C	ENST00000272117.3	-	7	2724	c.2725A>G	c.(2725-2727)Acc>Gcc	p.T909A	ITPKB_ENST00000429204.1_Missense_Mutation_p.T909A			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	909					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTGCAGGGTCTGGCCCTCA	0.597																																					Colon(84;110 1851 5306 33547)												0			1											89.0	72.0	78.0					1																	226822488		2203	4300	6503	224889111	SO:0001583	missense	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2725A>G	1.37:g.226822488T>C	ENSP00000272117:p.Thr909Ala		224889111	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340448	0.60963	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.13778	2.56;2.56	5.05	5.05	0.67936	.	0.185344	0.48767	D	0.000173	T	0.19967	0.0480	M	0.87547	2.89	0.28034	N	0.934017	B	0.34255	0.445	B	0.35727	0.209	T	0.26430	-1.0103	10	0.38643	T	0.18	-30.7112	5.485	0.16745	0.0:0.226:0.0:0.774	.	909	P27987	IP3KB_HUMAN	A	909	ENSP00000272117:T909A;ENSP00000411152:T909A	ENSP00000272117:T909A	T	-	1	0	ITPKB	224889111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.026000	0.41069	1.911000	0.55334	0.454000	0.30748	ACC		0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	
IFITM5	387733	hgsc.bcm.edu	37	11	299396	299396	+	Missense_Mutation	SNP	G	G	A	rs142041432		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:299396G>A	ENST00000382614.2	-	1	130	c.95C>T	c.(94-96)cCg>cTg	p.P32L		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	32					bone mineralization (GO:0030282)|regulation of bone mineralization (GO:0030500)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCTCGAGGCGGGGGGTGCGG	0.677													g|||	1	0.000199681	0.0008	0.0	5008	,	,		8764	0.0		0.0	False		,,,				2504	0.0																0			11						G	LEU/PRO	9,4363		0,9,2177	27.0	24.0	25.0		95	2.8	0.0	11	dbSNP_134	25	0,8568		0,0,4284	yes	missense	IFITM5	NM_001025295.1	98	0,9,6461	AA,AG,GG		0.0,0.2059,0.0696	benign	32/133	299396	9,12931	2186	4284	6470	289396	SO:0001583	missense	387733			AA463818, CR747200, DY654432	CCDS31323.1	11p15.5	2010-05-12			ENSG00000206013	ENSG00000206013			16644	protein-coding gene	gene with protein product		614757				11106657, 12659663, 18442316	Standard	NM_001025295		Approved	fragilis4, Hrmp1, BRIL	uc001low.2	A6NNB3	OTTHUMG00000165355	ENST00000382614.2:c.95C>T	11.37:g.299396G>A	ENSP00000372059:p.Pro32Leu		289396		Missense_Mutation	SNP	ENST00000382614.2	37	CCDS31323.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409312	0.11812	0.002059	0.0	ENSG00000206013	ENST00000382614	D	0.86164	-2.08	3.77	2.84	0.33178	.	0.155904	0.42682	D	0.000665	T	0.74839	0.3769	N	0.25144	0.715	0.35078	D	0.763142	B	0.25007	0.116	B	0.18561	0.022	T	0.69296	-0.5182	10	0.22706	T	0.39	-9.9755	8.6	0.33738	0.1189:0.0:0.8811:0.0	.	32	A6NNB3	IFM5_HUMAN	L	32	ENSP00000372059:P32L	ENSP00000372059:P32L	P	-	2	0	IFITM5	289396	0.306000	0.24490	0.002000	0.10522	0.017000	0.09413	0.844000	0.27654	0.547000	0.28938	0.561000	0.74099	CCG		0.677	IFITM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383588.1	NM_001025295	
SYT8	90019	hgsc.bcm.edu	37	11	1857174	1857174	+	Missense_Mutation	SNP	G	G	T	rs190754396		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:1857174G>T	ENST00000381968.3	+	4	487	c.359G>T	c.(358-360)tGc>tTc	p.C120F	SYT8_ENST00000535046.1_Missense_Mutation_p.C258F|SYT8_ENST00000341958.3_Missense_Mutation_p.C106F|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000436964.2_Missense_Mutation_p.C106F	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	120	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		C -> R (in dbSNP:rs564271). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAATGGGGGTGCCTGCAGCTC	0.632																																																	0			11											47.0	50.0	49.0					11																	1857174		2202	4299	6501	1813750	SO:0001583	missense	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.359G>T	11.37:g.1857174G>T	ENSP00000371394:p.Cys120Phe		1813750	A6NFJ4|Q9NSV9	Missense_Mutation	SNP	ENST00000381968.3	37	CCDS7726.2	.	.	.	.	.	.	.	.	.	.	g	6.469	0.454703	0.12283	.	.	ENSG00000149043	ENST00000436964;ENST00000535046;ENST00000381968;ENST00000341958	T;T;T;T	0.18174	2.27;2.23;3.19;3.19	3.54	1.32	0.21799	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28584	0.216;0.001;0.005	B;B;B	0.24701	0.055;0.0;0.0	T	0.28839	-1.0031	9	0.87932	D	0	.	5.5656	0.17168	0.1981:0.1618:0.64:0.0	.	106;120;106	C9JSK3;Q8NBV8;A6NCR4	.;SYT8_HUMAN;.	F	106;258;120;106	ENSP00000414626:C106F;ENSP00000443325:C258F;ENSP00000371394:C120F;ENSP00000343691:C106F	ENSP00000343691:C106F	C	+	2	0	SYT8	1813750	0.002000	0.14202	0.585000	0.28666	0.233000	0.25261	1.297000	0.33400	0.579000	0.29504	0.305000	0.20034	TGC		0.632	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4		
FAM111A	63901	hgsc.bcm.edu	37	11	58920237	58920237	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:58920237A>G	ENST00000528737.1	+	5	3914	c.1096A>G	c.(1096-1098)Act>Gct	p.T366A	FAM111A_ENST00000533703.1_Missense_Mutation_p.T366A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T366A|FAM111A_ENST00000420244.1_Missense_Mutation_p.T366A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T366A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	366	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GGACAGTGCAACTACGGGTTA	0.393																																																	0			11											108.0	107.0	107.0					11																	58920237		2201	4295	6496	58676813	SO:0001583	missense	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1096A>G	11.37:g.58920237A>G	ENSP00000434435:p.Thr366Ala		58676813	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971006	0.34754	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.73	3.32	0.38043	Peptidase cysteine/serine, trypsin-like (1);	1.020260	0.07794	N	0.955349	T	0.35828	0.0945	L	0.44542	1.39	0.09310	N	1	B	0.20164	0.042	B	0.16289	0.015	T	0.29366	-1.0014	10	0.46703	T	0.11	-18.0317	7.362	0.26752	0.7064:0.1503:0.0:0.1433	.	366	Q96PZ2	F111A_HUMAN	A	366	ENSP00000434435:T366A;ENSP00000406683:T366A;ENSP00000355264:T366A;ENSP00000433154:T366A;ENSP00000431631:T366A	ENSP00000355264:T366A	T	+	1	0	FAM111A	58676813	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.361000	0.34136	0.476000	0.27440	0.533000	0.62120	ACT		0.393	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
MYRF	745	hgsc.bcm.edu	37	11	61548455	61548455	+	Missense_Mutation	SNP	C	C	T	rs200193085		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:61548455C>T	ENST00000278836.5	+	20	2606	c.2510C>T	c.(2509-2511)aCg>aTg	p.T837M	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.T802M|MYRF_ENST00000389602.4_Missense_Mutation_p.T228M	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	837					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTGGGACCACGCAGCTCCGA	0.647																																																	0			11											71.0	67.0	69.0					11																	61548455		2202	4299	6501	61305031	SO:0001583	missense	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2510C>T	11.37:g.61548455C>T	ENSP00000278836:p.Thr837Met		61305031	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647910	0.87958	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.33865	1.39;1.4;1.41	5.19	5.19	0.71726	.	0.156344	0.42548	D	0.000686	T	0.54287	0.1849	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.66602	0.945;0.897;0.84	T	0.53500	-0.8430	10	0.54805	T	0.06	-7.6456	16.6024	0.84819	0.0:1.0:0.0:0.0	.	228;802;837	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	M	837;802;228	ENSP00000278836:T837M;ENSP00000265460:T802M;ENSP00000374253:T228M	ENSP00000265460:T802M	T	+	2	0	C11orf9	61305031	0.977000	0.34250	1.000000	0.80357	0.990000	0.78478	1.813000	0.38962	2.586000	0.87340	0.655000	0.94253	ACG		0.647	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
SIPA1	6494	hgsc.bcm.edu	37	11	65417427	65417427	+	Missense_Mutation	SNP	C	C	T	rs371556373	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:65417427C>T	ENST00000394224.3	+	13	3049	c.2753C>T	c.(2752-2754)tCg>tTg	p.S918L	SIPA1_ENST00000534313.1_Missense_Mutation_p.S918L|SIPA1_ENST00000527525.1_Missense_Mutation_p.S816L|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.S816L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	918					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGTCATGTCGGAGGCGGGC	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18156	0.001		0.0	False		,,,				2504	0.0																0			11						C	LEU/SER,LEU/SER	2,4400	4.2+/-10.8	0,2,2199	67.0	70.0	69.0		2753,2753	4.3	0.9	11		69	0,8594		0,0,4297	no	missense,missense	SIPA1	NM_006747.3,NM_153253.29	145,145	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	918/1043,918/1043	65417427	2,12994	2201	4297	6498	65174003	SO:0001583	missense	6494			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2753C>T	11.37:g.65417427C>T	ENSP00000377771:p.Ser918Leu		65174003	O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335414	0.60853	4.54E-4	0.0	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.87029	-2.12;-2.2;-2.12;-2.2	4.26	4.26	0.50523	.	0.000000	0.47455	U	0.000224	D	0.88702	0.6508	L	0.32530	0.975	0.34926	D	0.748864	D;D	0.89917	1.0;0.98	D;B	0.79108	0.992;0.366	D	0.91070	0.4892	10	0.45353	T	0.12	-10.5652	12.1843	0.54229	0.0:1.0:0.0:0.0	.	816;918	F6RY50;Q96FS4	.;SIPA1_HUMAN	L	918;816;918;816	ENSP00000436269:S918L;ENSP00000433686:S816L;ENSP00000377771:S918L;ENSP00000377774:S816L	ENSP00000377771:S918L	S	+	2	0	SIPA1	65174003	1.000000	0.71417	0.856000	0.33681	0.361000	0.29550	5.953000	0.70290	1.929000	0.55896	0.297000	0.19635	TCG		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747	
CATSPER1	117144	hgsc.bcm.edu	37	11	65788339	65788339	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:65788339A>G	ENST00000312106.5	-	6	2007	c.1870T>C	c.(1870-1872)Ttc>Ctc	p.F624L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	624					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGCAAGGTGAAGAGGGTGAAG	0.627																																																	0			11											126.0	81.0	96.0					11																	65788339		2201	4296	6497	65544915	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1870T>C	11.37:g.65788339A>G	ENSP00000309052:p.Phe624Leu		65544915	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583444	0.86748	.	.	ENSG00000175294	ENST00000312106	D	0.99136	-5.47	4.43	4.43	0.53597	Ion transport (1);	0.000000	0.35903	N	0.002910	D	0.98887	0.9623	M	0.68317	2.08	0.41036	D	0.985199	D	0.76494	0.999	D	0.80764	0.994	D	0.99577	1.0972	10	0.72032	D	0.01	-36.8504	10.0079	0.41968	1.0:0.0:0.0:0.0	.	624	Q8NEC5	CTSR1_HUMAN	L	624	ENSP00000309052:F624L	ENSP00000309052:F624L	F	-	1	0	CATSPER1	65544915	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.360000	0.66086	1.863000	0.54032	0.459000	0.35465	TTC		0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
CAPN5	726	hgsc.bcm.edu	37	11	76795984	76795984	+	Missense_Mutation	SNP	C	C	T	rs149132399	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:76795984C>T	ENST00000278559.3	+	2	241	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	CAPN5_ENST00000531028.1_Missense_Mutation_p.R18W|CAPN5_ENST00000529629.1_Missense_Mutation_p.R18W|CAPN5_ENST00000456580.2_Missense_Mutation_p.R18W	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	18				R -> Q (in Ref. 1; AAC51869). {ECO:0000305}.	proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGCCCTGAGGCGGGACTGCCG	0.652																																																	0			11						C	TRP/ARG	8,4392	14.3+/-33.2	0,8,2192	50.0	52.0	51.0		52	3.1	1.0	11	dbSNP_134	51	0,8584	1.2+/-3.3	0,0,4292	yes	missense	CAPN5	NM_004055.4	101	0,8,6484	TT,TC,CC		0.0,0.1818,0.0616	probably-damaging	18/641	76795984	8,12976	2200	4292	6492	76473632	SO:0001583	missense	726				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.52C>T	11.37:g.76795984C>T	ENSP00000278559:p.Arg18Trp		76473632	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.32	2.500376	0.44455	0.001818	0.0	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.18	3.1	0.35709	Peptidase C2, calpain, catalytic domain (1);	0.120863	0.53938	D	0.000049	T	0.61185	0.2327	M	0.76170	2.325	0.48452	D	0.999657	D;D;D;D	0.76494	0.999;0.997;0.997;0.998	P;P;P;P	0.59424	0.857;0.821;0.821;0.803	T	0.65537	-0.6144	10	0.87932	D	0	.	10.3217	0.43769	0.539:0.4609:0.0:0.0	.	56;18;58;18	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	W	18;18;18;58;18;18;18	ENSP00000278559:R18W;ENSP00000435894:R18W;ENSP00000432332:R18W;ENSP00000409996:R18W	ENSP00000278559:R18W	R	+	1	2	CAPN5	76473632	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	4.768000	0.62293	1.156000	0.42514	0.655000	0.94253	CGG		0.652	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
GUCY1A2	2977	hgsc.bcm.edu	37	11	106579265	106579265	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:106579265C>T	ENST00000526355.2	-	7	2432	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R676H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R686H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	655					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GACATTGATGCGCCGAGGGTG	0.522																																																	0			11											158.0	150.0	153.0					11																	106579265		2201	4298	6499	106084475	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1964G>A	11.37:g.106579265C>T	ENSP00000431245:p.Arg655His		106084475	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617047	0.87359	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.81579	-1.51;-1.51;-1.51	6.02	5.11	0.69529	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.146255	0.31495	N	0.007559	D	0.89361	0.6693	M	0.80183	2.485	0.45946	D	0.998774	D;D;B	0.89917	0.999;1.0;0.066	D;D;B	0.70487	0.95;0.969;0.019	D	0.90721	0.4635	10	0.72032	D	0.01	.	14.5493	0.68054	0.0:0.9302:0.0:0.0698	.	676;686;655	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	655;686;676	ENSP00000431245:R655H;ENSP00000282249:R686H;ENSP00000344874:R676H	ENSP00000282249:R686H	R	-	2	0	GUCY1A2	106084475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.910000	0.63321	1.561000	0.49584	0.655000	0.94253	CGC		0.522	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
ATXN1	6310	hgsc.bcm.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	C	A	rs3817753		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:16327903C>A	ENST00000244769.4	-	8	1575	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	213	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667																																																	0			6											5.0	8.0	7.0					6																	16327903		1624	3504	5128	16435882	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.639G>T	6.37:g.16327903C>A	ENSP00000244769:p.Gln213His		16435882	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	221	0.10119047619047619	38	0.07723577235772358	47	0.1298342541436464	89	0.1555944055944056	47	0.06200527704485488	C	4.787	0.146322	0.09134	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.62941	-0.01;-0.01	.	.	.	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	5	0.45353	T	0.12	.	.	.	.	rs3817753	213	P54253	ATX1_HUMAN	H	213	ENSP00000244769:Q213H;ENSP00000416360:Q213H	ENSP00000244769:Q213H	Q	-	3	2	ATXN1	16435882	0.034000	0.19679	0.018000	0.16275	0.072000	0.16883	0.306000	0.19279	0.000000	0.14550	0.000000	0.15137	CAG		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
BTN3A3	10384	hgsc.bcm.edu	37	6	26452620	26452620	+	Missense_Mutation	SNP	G	G	A	rs144256388		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:26452620G>A	ENST00000244519.2	+	11	1979	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	BTN3A3_ENST00000339789.4_Missense_Mutation_p.R537H|BTN3A3_ENST00000361232.3_Missense_Mutation_p.R530H	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	579					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R579H(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTACAGGcacgcactgaagca	0.463																																																	1	Substitution - Missense(1)	lung(1)	6						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	32.0	33.0		1106,1736,1589	-3.0	0.0	6	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	369/375,579/585,530/536	26452620	1,13005	2203	4300	6503	26560599	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1736G>A	6.37:g.26452620G>A	ENSP00000244519:p.Arg579His		26560599	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831123	0.02713	0.0	1.16E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.39229	1.15;1.09;1.09	1.48	-2.96	0.05547	.	.	.	.	.	T	0.05777	0.0151	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	0.31364	-0.9946	9	0.40728	T	0.16	.	1.5152	0.02504	0.4283:0.0:0.2652:0.3064	.	530;579	E9PCP5;O00478	.;BT3A3_HUMAN	H	579;537;530	ENSP00000244519:R579H;ENSP00000344968:R537H;ENSP00000355238:R530H	ENSP00000244519:R579H	R	+	2	0	BTN3A3	26560599	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.866000	0.01647	-0.330000	0.08514	-1.006000	0.02489	CGC		0.463	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
MAS1L	116511	hgsc.bcm.edu	37	6	29455289	29455289	+	Silent	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:29455289A>G	ENST00000377127.3	-	1	449	c.391T>C	c.(391-393)Tta>Cta	p.L131L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	131					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L131L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTCACCTGTAAGAACCCCACT	0.507																																					NSCLC(153;755 1987 3859 11251 32945)												1	Substitution - coding silent(1)	ovary(1)	6											65.0	61.0	62.0					6																	29455289		2203	4300	6503	29563268	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.391T>C	6.37:g.29455289A>G			29563268	Q5SUN5	Silent	SNP	ENST00000377127.3	37	CCDS4661.1																																																																																				0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
ITPR3	3710	hgsc.bcm.edu	37	6	33657928	33657928	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:33657928A>G	ENST00000374316.5	+	52	8045	c.6985A>G	c.(6985-6987)Acc>Gcc	p.T2329A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T2329A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2329					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTACATCCTGACCAGTGTCCT	0.597																																																	0			6											120.0	96.0	104.0					6																	33657928		2203	4300	6503	33765906	SO:0001583	missense	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6985A>G	6.37:g.33657928A>G	ENSP00000363435:p.Thr2329Ala		33765906	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728936	0.89390	.	.	ENSG00000096433	ENST00000374316	D	0.98362	-4.89	5.18	5.18	0.71444	Ion transport (1);	0.051258	0.85682	D	0.000000	D	0.98040	0.9354	L	0.52266	1.64	0.54753	D	0.999984	P;D	0.63046	0.67;0.992	B;D	0.67231	0.403;0.95	D	0.99833	1.1055	10	0.87932	D	0	-20.3344	15.0372	0.71757	1.0:0.0:0.0:0.0	.	2329;1999	Q14573;Q59ES2	ITPR3_HUMAN;.	A	2329	ENSP00000363435:T2329A	ENSP00000363435:T2329A	T	+	1	0	ITPR3	33765906	1.000000	0.71417	0.964000	0.40570	0.980000	0.70556	9.339000	0.96797	1.976000	0.57569	0.379000	0.24179	ACC		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
TRERF1	55809	hgsc.bcm.edu	37	6	42211092	42211092	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:42211092G>T	ENST00000372922.4	-	15	3315	c.2753C>A	c.(2752-2754)tCc>tAc	p.S918Y	TRERF1_ENST00000372917.4_Missense_Mutation_p.S835Y|TRERF1_ENST00000541110.1_Missense_Mutation_p.S938Y|TRERF1_ENST00000340840.2_Missense_Mutation_p.S835Y|TRERF1_ENST00000354325.2_Missense_Mutation_p.S835Y	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	918	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACCGTCTTGGACTTCACCTG	0.493																																																	0			6											102.0	90.0	94.0					6																	42211092		2203	4300	6503	42319070	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2753C>A	6.37:g.42211092G>T	ENSP00000362013:p.Ser918Tyr		42319070	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.735041	0.89482	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	6.16	6.16	0.99307	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000018	T	0.42720	0.1215	L	0.38531	1.155	0.52501	D	0.999956	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.993	D;D;D;D;D	0.87578	0.998;0.996;0.996;0.998;0.983	T	0.26121	-1.0112	10	0.87932	D	0	-21.77	20.4596	0.99160	0.0:0.0:1.0:0.0	.	835;938;918;674;674	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	Y	938;835;918;835;835	ENSP00000439689:S938Y;ENSP00000362008:S835Y;ENSP00000362013:S918Y;ENSP00000339438:S835Y;ENSP00000346285:S835Y	ENSP00000339438:S835Y	S	-	2	0	TRERF1	42319070	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.989000	0.76219	2.937000	0.99478	0.651000	0.88453	TCC		0.493	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
GSTA5	221357	hgsc.bcm.edu	37	6	52696671	52696671	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:52696671T>C	ENST00000370989.2	-	6	673	c.644A>G	c.(643-645)gAa>gGa	p.E215G	GSTA5_ENST00000284562.2_Missense_Mutation_p.E215G|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	215					glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTTCCTTGCTTCTTCTAAAGA	0.453																																																	0			6											142.0	137.0	139.0					6																	52696671		2203	4300	6503	52804630	SO:0001583	missense	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.644A>G	6.37:g.52696671T>C	ENSP00000360028:p.Glu215Gly		52804630	Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	T	4.194	0.034694	0.08101	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01613	4.73;4.73	2.37	2.37	0.29283	Glutathione S-transferase, C-terminal-like (1);	0.889303	0.09686	N	0.769158	T	0.00967	0.0032	M	0.75264	2.295	0.09310	N	1	B	0.22211	0.066	B	0.15484	0.013	T	0.43015	-0.9417	10	0.30078	T	0.28	.	6.5957	0.22672	0.0:0.0:0.2436:0.7564	.	215	Q7RTV2	GSTA5_HUMAN	G	215	ENSP00000360028:E215G;ENSP00000284562:E215G	ENSP00000284562:E215G	E	-	2	0	GSTA5	52804630	0.000000	0.05858	0.015000	0.15790	0.039000	0.13416	-0.325000	0.07976	1.091000	0.41335	0.254000	0.18369	GAA		0.453	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699	
DST	667	hgsc.bcm.edu	37	6	56496754	56496754	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:56496754A>G	ENST00000361203.3	-	25	3264	c.3257T>C	c.(3256-3258)cTg>cCg	p.L1086P	DST_ENST00000518935.1_Missense_Mutation_p.L760P|DST_ENST00000370788.2_Missense_Mutation_p.L1086P|DST_ENST00000244364.6_Missense_Mutation_p.L760P|DST_ENST00000370769.4_Missense_Mutation_p.L1086P|DST_ENST00000446842.2_Missense_Mutation_p.L760P|DST_ENST00000312431.6_Missense_Mutation_p.L1086P|DST_ENST00000421834.2_Missense_Mutation_p.L1086P|DST_ENST00000370754.5_Missense_Mutation_p.L1264P|DST_ENST00000370765.6_Missense_Mutation_p.L760P			Q03001	DYST_HUMAN	dystonin	1086					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTCTAATCAGCCGATCTTC	0.383																																																	0			6											111.0	109.0	110.0					6																	56496754		2203	4300	6503	56604713	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3257T>C	6.37:g.56496754A>G	ENSP00000354508:p.Leu1086Pro		56604713	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	25.1	4.602445	0.87157	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	0.74;0.74;0.74;0.74;0.74;0.74;0.74;-0.5;0.74;0.74;0.74;-0.07	5.84	5.84	0.93424	.	0.000000	0.39146	N	0.001457	T	0.80523	0.4639	M	0.71581	2.175	0.35126	D	0.767546	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.972;0.997;0.972;0.99;0.999;0.999;0.972;0.983	T	0.83177	-0.0091	9	0.72032	D	0.01	.	16.2233	0.82274	1.0:0.0:0.0:0.0	.	1086;1086;1264;760;760;760;1086;760	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	P	760;1264;1086;1086;760;1086;1086;1086;760;1126;760;760	ENSP00000244364:L760P;ENSP00000359790:L1264P;ENSP00000359805:L1086P;ENSP00000400883:L1086P;ENSP00000393645:L760P;ENSP00000307959:L1086P;ENSP00000359824:L1086P;ENSP00000354508:L1086P;ENSP00000404924:L760P;ENSP00000431030:L1126P;ENSP00000359801:L760P;ENSP00000431003:L760P	ENSP00000244364:L760P	L	-	2	0	DST	56604713	0.997000	0.39634	0.225000	0.23894	0.974000	0.67602	7.518000	0.81795	2.243000	0.73865	0.482000	0.46254	CTG		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
BAI3	577	hgsc.bcm.edu	37	6	69949023	69949023	+	Missense_Mutation	SNP	C	C	T	rs145280281	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:69949023C>T	ENST00000370598.1	+	20	3540	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	BAI3_ENST00000238918.8_Missense_Mutation_p.R113C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAGGTACATACGCTCTGAGAG	0.368																																																	0			6						C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	179.0	174.0	175.0		2719	5.3	1.0	6	dbSNP_134	175	11,8585	8.4+/-32.0	0,11,4287	yes	missense	BAI3	NM_001704.2	180	0,15,6486	TT,TC,CC		0.128,0.0908,0.1154	probably-damaging	907/1523	69949023	15,12987	2203	4298	6501	70005744	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2719C>T	6.37:g.69949023C>T	ENSP00000359630:p.Arg907Cys		70005744	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792583	0.70452	9.08E-4	0.00128	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.52754	0.65;0.65	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.056171	0.64402	D	0.000002	T	0.65123	0.2661	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.67103	0.832;0.83;0.949	T	0.72544	-0.4261	10	0.87932	D	0	.	12.1006	0.53780	0.2923:0.7077:0.0:0.0	.	113;907;907	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	907;113	ENSP00000359630:R907C;ENSP00000238918:R113C	ENSP00000238918:R113C	R	+	1	0	BAI3	70005744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.113000	0.57851	2.450000	0.82876	0.655000	0.94253	CGC		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152674812	152674812	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:152674812A>G	ENST00000367255.5	-	68	11595	c.10994T>C	c.(10993-10995)aTa>aCa	p.I3665T	SYNE1_ENST00000265368.4_Missense_Mutation_p.I3665T|SYNE1_ENST00000423061.1_Missense_Mutation_p.I3650T|SYNE1_ENST00000448038.1_Missense_Mutation_p.I3650T|SYNE1_ENST00000341594.5_Missense_Mutation_p.I3636T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3665					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCGTCCAGTATCTCCTGAGC	0.517										HNSCC(10;0.0054)																																							0			6											161.0	134.0	143.0					6																	152674812		2203	4300	6503	152716505	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10994T>C	6.37:g.152674812A>G	ENSP00000356224:p.Ile3665Thr		152716505	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428924	0.43122	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.75	5.75	0.90469	.	0.188980	0.36444	N	0.002595	T	0.24699	0.0599	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.28552	0.215;0.215;0.215;0.178	B;B;B;B	0.29942	0.043;0.043;0.043;0.109	T	0.10636	-1.0621	10	0.72032	D	0.01	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	3665;3665;3665;3650	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	3665;3650;3665;3650;3636	ENSP00000356224:I3665T;ENSP00000396024:I3650T;ENSP00000265368:I3665T;ENSP00000390975:I3650T;ENSP00000341887:I3636T	ENSP00000265368:I3665T	I	-	2	0	SYNE1	152716505	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.162000	0.77515	2.194000	0.70268	0.533000	0.62120	ATA		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152712653	152712653	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:152712653C>A	ENST00000367255.5	-	52	8364	c.7763G>T	c.(7762-7764)gGc>gTc	p.G2588V	SYNE1_ENST00000265368.4_Missense_Mutation_p.G2588V|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2595V|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2595V|SYNE1_ENST00000341594.5_Missense_Mutation_p.G2627V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2588					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCACCGTGGCCTTCTTCACT	0.473										HNSCC(10;0.0054)																																							0			6											44.0	47.0	46.0					6																	152712653		2203	4300	6503	152754346	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7763G>T	6.37:g.152712653C>A	ENSP00000356224:p.Gly2588Val		152754346	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900795	0.52227	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.79	5.79	0.91817	.	0.100043	0.44285	D	0.000477	T	0.46132	0.1377	M	0.64997	1.995	0.80722	D	1	D;D;D;P	0.61697	0.99;0.97;0.97;0.481	P;P;P;B	0.59056	0.82;0.851;0.851;0.161	T	0.10497	-1.0627	10	0.29301	T	0.29	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	2571;2588;2588;2595	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	2588;2595;2588;2595;2627	ENSP00000356224:G2588V;ENSP00000396024:G2595V;ENSP00000265368:G2588V;ENSP00000390975:G2595V;ENSP00000341887:G2627V	ENSP00000265368:G2588V	G	-	2	0	SYNE1	152754346	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.440000	0.80464	2.733000	0.93635	0.655000	0.94253	GGC		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SMG6	23293	hgsc.bcm.edu	37	17	2186960	2186960	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:2186960T>C	ENST00000263073.6	-	7	2457	c.2407A>G	c.(2407-2409)Aag>Gag	p.K803E	SMG6_ENST00000544865.1_Missense_Mutation_p.K772E	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	803					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGACTCTCCTTGGCAGTCAGG	0.502																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0			17											171.0	137.0	148.0					17																	2186960		2203	4300	6503	2133710	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2407A>G	17.37:g.2186960T>C	ENSP00000263073:p.Lys803Glu		2133710	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918683	0.92249	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18174	2.23;2.23	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.05920	-1.0856	10	0.48119	T	0.1	-10.3572	14.6587	0.68852	0.0:0.0:0.0:1.0	.	803	Q86US8	EST1A_HUMAN	E	803;772	ENSP00000263073:K803E;ENSP00000443920:K772E	ENSP00000263073:K803E	K	-	1	0	SMG6	2133710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.656000	0.83736	1.854000	0.53819	0.397000	0.26171	AAG		0.502	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
SHISA6	388336	hgsc.bcm.edu	37	17	11459124	11459124	+	Silent	SNP	G	G	A	rs377388134		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:11459124G>A	ENST00000409168.3	+	3	867	c.867G>A	c.(865-867)tcG>tcA	p.S289S	SHISA6_ENST00000441885.3_Silent_p.S340S|SHISA6_ENST00000432116.3_Silent_p.S321S	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	289						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						TCTCCCGCTCGTTCCAGAACT	0.502																																																	0			17						A	,,	0,1384		0,0,692	103.0	103.0	103.0		867,963,1020	-1.6	1.0	17		103	1,3181		0,1,1590	no	coding-synonymous,coding-synonymous,coding-synonymous	SHISA6	NM_001173461.1,NM_001173462.1,NM_207386.3	,,	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	,,	289/501,321/533,340/552	11459124	1,4565	692	1591	2283	11399849	SO:0001819	synonymous_variant	0			AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.867G>A	17.37:g.11459124G>A			11399849	B3KXV5|Q4PL63	Silent	SNP	ENST00000409168.3	37	CCDS54090.1																																																																																				0.502	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000333970.2	NM_207386	
DNAH9	1770	hgsc.bcm.edu	37	17	11865409	11865409	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:11865409A>G	ENST00000262442.4	+	68	13137	c.13069A>G	c.(13069-13071)Act>Gct	p.T4357A	DNAH9_ENST00000608377.1_Missense_Mutation_p.T669A|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.T4281A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4357					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCGTTCCTGACTGCCATCAT	0.537																																																	0			17											71.0	65.0	67.0					17																	11865409		2203	4300	6503	11806134	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13069A>G	17.37:g.11865409A>G	ENSP00000262442:p.Thr4357Ala		11806134	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895392	0.72639	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.17213	2.29;2.29;2.29	5.04	5.04	0.67666	Dynein heavy chain (1);	0.051026	0.85682	D	0.000000	T	0.51227	0.1662	H	0.95079	3.62	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.62751	-0.6788	10	0.87932	D	0	.	9.4478	0.38708	0.9211:0.0:0.0789:0.0	.	4357	Q9NYC9	DYH9_HUMAN	A	4357;4281;2863;669	ENSP00000262442:T4357A;ENSP00000414874:T4281A;ENSP00000379323:T669A	ENSP00000262442:T4357A	T	+	1	0	DNAH9	11806134	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.987000	0.63857	2.116000	0.64780	0.533000	0.62120	ACT		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
CDRT15L2	256223	hgsc.bcm.edu	37	17	20483127	20483127	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:20483127G>A	ENST00000399044.1	+	1	91	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	24						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						AGCCTTTTCCGACAATGCCGA	0.582																																																	0			17																																								20423719	SO:0001583	missense	256223				CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.71G>A	17.37:g.20483127G>A	ENSP00000382000:p.Arg24Gln		20423719		Missense_Mutation	SNP	ENST00000399044.1	37	CCDS54096.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.023027	0.35701	.	.	ENSG00000214819	ENST00000399044	T	0.60548	0.18	1.05	-1.59	0.08453	.	.	.	.	.	T	0.46347	0.1388	L	0.38175	1.15	0.09310	N	1	.	.	.	.	.	.	T	0.46679	-0.9174	7	0.87932	D	0	.	4.2384	0.10637	0.4544:0.0:0.5456:0.0	.	.	.	.	Q	24	ENSP00000382000:R24Q	ENSP00000382000:R24Q	R	+	2	0	CDRT15L2	20423719	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	1.075000	0.30716	-0.540000	0.06265	0.185000	0.17295	CGA		0.582	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132432.3	XM_170840	
SUPT6H	6830	hgsc.bcm.edu	37	17	27016477	27016477	+	Silent	SNP	C	C	T	rs200547240		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:27016477C>T	ENST00000314616.6	+	25	3523	c.3240C>T	c.(3238-3240)gcC>gcT	p.A1080A	SUPT6H_ENST00000347486.4_Silent_p.A1080A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1080	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGAATCAGCCGAGGATGCCA	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19822	0.0		0.0	False		,,,				2504	0.0																0			17											97.0	87.0	91.0					17																	27016477		2203	4300	6503	24040604	SO:0001819	synonymous_variant	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3240C>T	17.37:g.27016477C>T			24040604	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	CCDS32596.1																																																																																				0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
ERBB2	2064	hgsc.bcm.edu	37	17	37880998	37880998	+	Missense_Mutation	SNP	G	G	T	rs144434331		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:37880998G>T	ENST00000269571.5	+	20	2486	c.2327G>T	c.(2326-2328)gGt>gTt	p.G776V	ERBB2_ENST00000584450.1_Missense_Mutation_p.G776V|ERBB2_ENST00000445658.2_Missense_Mutation_p.G500V|ERBB2_ENST00000540147.1_Missense_Mutation_p.G746V|ERBB2_ENST00000584601.1_Missense_Mutation_p.G746V|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.G746V|ERBB2_ENST00000541774.1_Missense_Mutation_p.G761V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (in a gastric adenocarcinoma sample; somatic mutation; dbSNP:rs28933369). {ECO:0000269|PubMed:15457249, ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.G776>VC(9)|p.G776V(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTGATGGCTGGTGTGGGCTCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	11	Complex - insertion inframe(9)|Substitution - Missense(2)	lung(9)|ovary(2)	17											92.0	91.0	91.0					17																	37880998		2203	4300	6503	35134524	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2327G>T	17.37:g.37880998G>T	ENSP00000269571:p.Gly776Val		35134524	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050211	0.55218	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85635	0.5742	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.79784	0.959;0.993;0.959	D	0.87980	0.2742	9	0.72032	D	0.01	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	500;761;776	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	V	746;761;500;776;746	ENSP00000385185:G746V;ENSP00000446466:G761V;ENSP00000404047:G500V;ENSP00000269571:G776V;ENSP00000443562:G746V	ENSP00000269571:G776V	G	+	2	0	ERBB2	35134524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.917000	0.87498	2.478000	0.83669	0.563000	0.77884	GGT		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
WNK4	65266	hgsc.bcm.edu	37	17	40948558	40948558	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:40948558A>G	ENST00000246914.5	+	18	3712	c.3691A>G	c.(3691-3693)Agc>Ggc	p.S1231G	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1231					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAGCGGGCAAGCAAGGGGGT	0.632																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0			17											58.0	57.0	57.0					17																	40948558		2203	4300	6503	38202084	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3691A>G	17.37:g.40948558A>G	ENSP00000246914:p.Ser1231Gly		38202084	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086047	0.55861	.	.	ENSG00000126562	ENST00000246914	T	0.74947	-0.89	5.51	5.51	0.81932	.	0.272298	0.26248	N	0.025470	T	0.75042	0.3796	L	0.45137	1.4	0.80722	D	1	D	0.56521	0.976	P	0.49922	0.626	T	0.78331	-0.2245	10	0.72032	D	0.01	-13.0924	15.2775	0.73753	1.0:0.0:0.0:0.0	.	1231	Q96J92	WNK4_HUMAN	G	1231	ENSP00000246914:S1231G	ENSP00000246914:S1231G	S	+	1	0	WNK4	38202084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.247000	0.65416	2.096000	0.63516	0.533000	0.62120	AGC		0.632	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		
PRDM15	63977	hgsc.bcm.edu	37	21	43221699	43221699	+	Missense_Mutation	SNP	C	C	T	rs149361413	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr21:43221699C>T	ENST00000269844.3	-	31	4335	c.4225G>A	c.(4225-4227)Gtg>Atg	p.V1409M	PRDM15_ENST00000447207.2_Missense_Mutation_p.V1043M|PRDM15_ENST00000398548.1_Missense_Mutation_p.V1080M|PRDM15_ENST00000538201.1_Missense_Mutation_p.V1063M|PRDM15_ENST00000422911.1_Missense_Mutation_p.V1100M|PRDM15_ENST00000470586.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAAAGGTCACGGTCAGGATT	0.602																																																	0			21							MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	56.0	58.0		3238,4225	4.3	1.0	21	dbSNP_134	58	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	21,21	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	1080/1179,1409/1508	43221699	4,13002	2203	4300	6503	42094768	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4225G>A	21.37:g.43221699C>T	ENSP00000269844:p.Val1409Met		42094768	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.950009	0.73787	2.27E-4	3.49E-4	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	4.29	4.29	0.51040	.	.	.	.	.	T	0.43211	0.1237	L	0.27053	0.805	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.997	T	0.48364	-0.9042	9	0.87932	D	0	-30.6355	15.7568	0.78037	0.0:1.0:0.0:0.0	.	1409;1100;1080	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	M	1100;1080;1063;1043;1409	ENSP00000408592:V1100M;ENSP00000381556:V1080M;ENSP00000444044:V1063M;ENSP00000390245:V1043M;ENSP00000269844:V1409M	ENSP00000269844:V1409M	V	-	1	0	PRDM15	42094768	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.206000	0.77891	1.934000	0.56057	0.558000	0.71614	GTG		0.602	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
CAPN15	6650	hgsc.bcm.edu	37	16	597984	597984	+	Silent	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:597984C>T	ENST00000219611.2	+	4	1509	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	382					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCACTGCCCCGACTGTGGGG	0.731																																																	0			16											4.0	5.0	5.0					16																	597984		1790	3710	5500	537985	SO:0001819	synonymous_variant	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1146C>T	16.37:g.597984C>T			537985	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																				0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
TPSAB1	7177	hgsc.bcm.edu	37	16	1291615	1291615	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:1291615C>G	ENST00000338844.3	+	4	447	c.414C>G	c.(412-414)caC>caG	p.H138Q	TPSAB1_ENST00000461509.2_Missense_Mutation_p.H145Q	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	138	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCCACGTCCACACGGTCACCC	0.657																																																	0			16											25.0	21.0	22.0					16																	1291615		2198	4295	6493	1231616	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.414C>G	16.37:g.1291615C>G	ENSP00000343577:p.His138Gln		1231616	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.334345	0.00227	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.87650	-2.28;-2.28	3.51	-0.0492	0.13836	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.483819	0.17526	N	0.171072	T	0.62270	0.2414	N	0.01771	-0.73	0.25255	N	0.989642	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.53394	-0.8445	10	0.07990	T	0.79	.	8.1558	0.31167	0.0:0.2912:0.5797:0.1291	.	129;138	Q15661-2;Q15661	.;TRYB1_HUMAN	Q	138;145	ENSP00000343577:H138Q;ENSP00000418247:H145Q	ENSP00000343577:H138Q	H	+	3	2	TPSAB1	1231616	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	-1.833000	0.01695	-0.171000	0.10797	0.479000	0.44913	CAC		0.657	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294	
SYT17	51760	hgsc.bcm.edu	37	16	19191848	19191848	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:19191848G>A	ENST00000355377.2	+	4	716	c.318G>A	c.(316-318)acG>acA	p.T106T	SYT17_ENST00000562711.2_Silent_p.T102T|SYT17_ENST00000562034.1_Silent_p.T45T|SYT17_ENST00000568115.1_Silent_p.T45T	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	106					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ACAGCCTGACGCGGAGGATTT	0.567											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											73.0	63.0	67.0					16																	19191848		2197	4300	6497	19099349	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.318G>A	16.37:g.19191848G>A		731	19099349	O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.567	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	
PLK1	5347	hgsc.bcm.edu	37	16	23690582	23690582	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:23690582A>G	ENST00000300093.4	+	1	440	c.329A>G	c.(328-330)cAc>cGc	p.H110R	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AGCCTCGCCCACCAGCACGTC	0.582																																					Colon(12;240 564 27038 33155)												0			16											61.0	58.0	59.0					16																	23690582		2197	4300	6497	23598083	SO:0001583	missense	5347				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.329A>G	16.37:g.23690582A>G	ENSP00000300093:p.His110Arg		23598083	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777668	0.90195	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.78481	-1.18	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155441	0.64402	D	0.000020	D	0.89220	0.6653	H	0.94542	3.55	0.80722	D	1	D	0.59357	0.985	P	0.60415	0.874	D	0.91670	0.5349	10	0.87932	D	0	-12.5677	11.8876	0.52610	1.0:0.0:0.0:0.0	.	110	P53350	PLK1_HUMAN	R	110;13;110	ENSP00000300093:H110R	ENSP00000300093:H110R	H	+	2	0	PLK1	23598083	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.169000	0.89672	1.917000	0.55516	0.459000	0.35465	CAC		0.582	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
ZNF668	79759	hgsc.bcm.edu	37	16	31072703	31072703	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:31072703A>G	ENST00000538906.1	-	3	2330	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	ZNF668_ENST00000394983.2_Missense_Mutation_p.F516L|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.F539L|ZNF668_ENST00000300849.4_Missense_Mutation_p.F516L|ZNF668_ENST00000535577.1_Missense_Mutation_p.F516L|ZNF668_ENST00000539836.3_Missense_Mutation_p.F539L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	516					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGGCACACAAACTGGGGGGGC	0.662																																					Colon(181;1111 1980 5060 10512 25785)												0			16											48.0	52.0	51.0					16																	31072703		2197	4300	6497	30980204	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1546T>C	16.37:g.31072703A>G	ENSP00000440149:p.Phe516Leu		30980204	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429032	0.43122	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.04	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.242073	0.33419	N	0.004931	T	0.23572	0.0570	N	0.08118	0	0.30265	N	0.79284	B	0.29531	0.247	B	0.21360	0.034	T	0.16958	-1.0385	10	0.87932	D	0	-10.633	7.2712	0.26258	0.7895:0.0:0.0:0.2105	.	516	Q96K58	ZN668_HUMAN	L	539;516;516;516;516	ENSP00000442573:F539L;ENSP00000441349:F516L;ENSP00000440149:F516L;ENSP00000378434:F516L;ENSP00000300849:F516L	ENSP00000300849:F516L	F	-	1	0	ZNF668	30980204	0.000000	0.05858	0.864000	0.33941	0.721000	0.41392	1.097000	0.30988	2.129000	0.65627	0.459000	0.35465	TTT		0.662	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
KAT8	84148	hgsc.bcm.edu	37	16	31131665	31131665	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:31131665C>T	ENST00000543774.2	+	4	627	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	KAT8_ENST00000219797.4_Missense_Mutation_p.R98W|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.R98W			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	98	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.R98W(2)									TACAGTTAACCGGCGGCTGGA	0.577																																																	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	16											79.0	76.0	77.0					16																	31131665		2197	4300	6497	31039166	SO:0001583	missense	84148			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.292C>T	16.37:g.31131665C>T	ENSP00000456933:p.Arg98Trp		31039166	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266161	0.80358	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.50548	0.74;0.74	5.83	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79916	-0.1601	10	0.87932	D	0	-33.3908	13.8716	0.63622	0.1825:0.8174:0.0:0.0	.	98;98	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	W	98	ENSP00000219797:R98W;ENSP00000406037:R98W	ENSP00000219797:R98W	R	+	1	2	KAT8	31039166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.752000	0.38349	1.377000	0.46286	0.655000	0.94253	CGG		0.577	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188	
FAM65A	79567	hgsc.bcm.edu	37	16	67576922	67576922	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr16:67576922T>C	ENST00000379312.3	+	13	2366	c.2245T>C	c.(2245-2247)Tca>Cca	p.S749P	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.S765P|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.S759P|FAM65A_ENST00000540839.3_Missense_Mutation_p.S765P|FAM65A_ENST00000042381.4_Missense_Mutation_p.S745P|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	749	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCAGATCCCTCAGAGTCTAC	0.602																																																	0			16											98.0	107.0	104.0					16																	67576922		2198	4300	6498	66134423	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2245T>C	16.37:g.67576922T>C	ENSP00000368614:p.Ser749Pro		66134423	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.018|2.018	-0.425367|-0.425367	0.04701|0.04701	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.13901	.|2.55;2.55;2.55	5.2|5.2	2.21|2.21	0.28008|0.28008	.|.	.|0.913413	.|0.09448	.|N	.|0.800797	T|T	0.07413|0.07413	0.0187|0.0187	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.45220|0.45220	-0.9276|-0.9276	5|10	.|0.15499	.|T	.|0.54	0.3111|0.3111	6.7282|6.7282	0.23369|0.23369	0.0:0.6212:0.0:0.3788|0.0:0.6212:0.0:0.3788	.|.	.|759;765;749;765	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	P|P	739|749;745;765;759	.|ENSP00000368614:S749P;ENSP00000042381:S745P;ENSP00000400099:S765P	.|ENSP00000042381:S745P	L|S	+|+	2|1	0|0	FAM65A|FAM65A	66134423|66134423	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.020000|0.020000	0.10135|0.10135	0.571000|0.571000	0.23669|0.23669	0.245000|0.245000	0.21373|0.21373	-0.227000|-0.227000	0.12334|0.12334	CTC|TCA		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
ZFYVE20	64145	hgsc.bcm.edu	37	3	15126516	15126516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:15126516T>A	ENST00000253699.3	-	7	1040	c.427A>T	c.(427-429)Aag>Tag	p.K143*	ZFYVE20_ENST00000476527.2_Nonsense_Mutation_p.K143*|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Nonsense_Mutation_p.K143*	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	143	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CCTCGAATCTTTGCAGACTCA	0.378																																																	0			3											93.0	88.0	90.0					3																	15126516		2203	4300	6503	15101520	SO:0001587	stop_gained	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.427A>T	3.37:g.15126516T>A	ENSP00000253699:p.Lys143*		15101520	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Nonsense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	T	39	7.392050	0.98255	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6863	15.7182	0.77685	0.0:0.0:0.0:1.0	.	.	.	.	X	143	.	ENSP00000253699:K143X	K	-	1	0	ZFYVE20	15101520	1.000000	0.71417	0.920000	0.36463	0.079000	0.17450	5.994000	0.70623	2.112000	0.64535	0.528000	0.53228	AAG		0.378	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
SACM1L	22908	hgsc.bcm.edu	37	3	45751048	45751048	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:45751048T>C	ENST00000389061.5	+	5	596	c.392T>C	c.(391-393)tTt>tCt	p.F131S	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.F70S|SACM1L_ENST00000418611.1_Missense_Mutation_p.F28S	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	131	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTGGATGGATTTTACTTTTCA	0.358																																																	0			3											125.0	119.0	121.0					3																	45751048		2203	4300	6503	45726052	SO:0001583	missense	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.392T>C	3.37:g.45751048T>C	ENSP00000373713:p.Phe131Ser		45726052	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.027102	0.93518	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000438671;ENST00000541314	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	6.17	6.17	0.99709	Synaptojanin, N-terminal (2);	0.051139	0.85682	D	0.000000	D	0.84629	0.5514	H	0.94503	3.545	0.80722	D	1	P;D	0.65815	0.955;0.995	P;D	0.67103	0.854;0.949	D	0.88768	0.3262	10	0.87932	D	0	-12.3056	16.8222	0.85835	0.0:0.0:0.0:1.0	.	70;131	B4DK71;Q9NTJ5	.;SAC1_HUMAN	S	28;131;70;70	ENSP00000396387:F28S;ENSP00000373713:F131S;ENSP00000411966:F70S;ENSP00000443373:F70S	ENSP00000373713:F131S	F	+	2	0	SACM1L	45726052	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	7.685000	0.84117	2.371000	0.80710	0.533000	0.62120	TTT		0.358	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
LNP1	348801	hgsc.bcm.edu	37	3	100170693	100170693	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:100170693A>G	ENST00000383693.3	+	3	1567	c.287A>G	c.(286-288)gAg>gGg	p.E96G	LNP1_ENST00000489752.1_Missense_Mutation_p.E109G	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	96										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TCATTCAAGGAGCCACTGGAA	0.453																																																	0			3											106.0	99.0	101.0					3																	100170693		1847	4089	5936	101653383	SO:0001583	missense	348801				CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.287A>G	3.37:g.100170693A>G	ENSP00000373191:p.Glu96Gly		101653383	B7ZLT3	Missense_Mutation	SNP	ENST00000383693.3	37	CCDS43120.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826167	0.50739	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	5.32	3.95	0.45737	.	0.297478	0.31010	N	0.008432	T	0.27798	0.0684	L	0.32530	0.975	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.08126	-1.0737	9	0.33141	T	0.24	-12.2161	4.733	0.12974	0.7283:0.0:0.1008:0.1709	.	96	A1A4G5	LNP1_HUMAN	G	96;109	.	ENSP00000373191:E96G	E	+	2	0	LNP1	101653383	0.988000	0.35896	0.244000	0.24202	0.832000	0.47134	1.311000	0.33562	2.033000	0.60031	0.378000	0.23410	GAG		0.453	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1		
HSPBAP1	79663	hgsc.bcm.edu	37	3	122459920	122459920	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:122459920C>T	ENST00000306103.2	-	7	1009	c.866G>A	c.(865-867)cGt>cAt	p.R289H	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	289						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CACAAGCATACGGGTGATTGC	0.453																																																	0			3											127.0	128.0	127.0					3																	122459920		2203	4300	6503	123942610	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.866G>A	3.37:g.122459920C>T	ENSP00000302562:p.Arg289His		123942610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884285	0.72410	.	.	ENSG00000169087	ENST00000306103	T	0.11712	2.75	5.35	4.48	0.54585	Cupin, JmjC-type (1);	0.709852	0.13791	N	0.362502	T	0.30916	0.0780	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.01065	-1.1463	10	0.54805	T	0.06	.	11.6393	0.51222	0.0:0.9187:0.0:0.0813	.	289	Q96EW2	HBAP1_HUMAN	H	289	ENSP00000302562:R289H	ENSP00000302562:R289H	R	-	2	0	HSPBAP1	123942610	0.997000	0.39634	0.502000	0.27614	0.783000	0.44284	4.599000	0.61076	1.496000	0.48567	0.655000	0.94253	CGT		0.453	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
PLXNA1	5361	hgsc.bcm.edu	37	3	126723977	126723977	+	Silent	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:126723977C>T	ENST00000393409.2	+	6	1788	c.1788C>T	c.(1786-1788)gtC>gtT	p.V596V	PLXNA1_ENST00000251772.4_Silent_p.V573V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	596					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGCTGGCGTCAACTGCTCCT	0.672																																																	0			3											63.0	49.0	54.0					3																	126723977		2201	4299	6500	128206667	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1788C>T	3.37:g.126723977C>T			128206667		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
FOXL2	668	hgsc.bcm.edu	37	3	138665165	138665165	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:138665165A>G	ENST00000330315.3	-	1	817	c.400T>C	c.(400-402)Tgc>Cgc	p.C134R	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	134			C -> W (in granulosa-cell tumors of the ovary; not commonly found in other tumor types). {ECO:0000269|PubMed:19516027, ECO:0000269|PubMed:19956657}.		apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						ATGTCTTCGCAGGCCGGGTCC	0.682			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																																	Dom	yes		3	3q23	668	forkhead box L2	yes	O	0			3											33.0	31.0	32.0					3																	138665165		2202	4298	6500	140147855	SO:0001583	missense	668			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.400T>C	3.37:g.138665165A>G	ENSP00000333188:p.Cys134Arg		140147855	Q4ZGJ3	Missense_Mutation	SNP	ENST00000330315.3	37	CCDS3105.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049655	0.75846	.	.	ENSG00000183770	ENST00000330315;ENST00000542203	D	0.95205	-3.64	3.76	3.76	0.43208	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.95436	0.8518	L	0.55834	1.745	0.80722	D	1	D	0.58620	0.983	P	0.61874	0.895	D	0.95595	0.8658	10	0.87932	D	0	.	12.7528	0.57318	1.0:0.0:0.0:0.0	.	134	P58012	FOXL2_HUMAN	R	134	ENSP00000333188:C134R	ENSP00000333188:C134R	C	-	1	0	FOXL2	140147855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.589000	0.67523	1.468000	0.48064	0.352000	0.21897	TGC		0.682	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1		
CPB1	1360	hgsc.bcm.edu	37	3	148563303	148563303	+	Missense_Mutation	SNP	C	C	T	rs142211299		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:148563303C>T	ENST00000491148.1	+	10	1205	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CPB1_ENST00000282957.4_Missense_Mutation_p.R291C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	291						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R291C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGATTTCATCCGCAACAAACT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)	3						C	CYS/ARG	0,4406		0,0,2203	135.0	132.0	133.0		871	5.7	1.0	3	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPB1	NM_001871.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	291/418	148563303	1,13005	2203	4300	6503	150045993	SO:0001583	missense	1360			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.871C>T	3.37:g.148563303C>T	ENSP00000417222:p.Arg291Cys		150045993	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883883	0.91814	0.0	1.16E-4	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.12039	2.72;2.72	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (2);	0.048732	0.85682	D	0.000000	T	0.47619	0.1455	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54437	-0.8294	10	0.87932	D	0	.	19.8033	0.96518	0.0:1.0:0.0:0.0	.	291	P15086	CBPB1_HUMAN	C	291	ENSP00000417222:R291C;ENSP00000282957:R291C	ENSP00000282957:R291C	R	+	1	0	CPB1	150045993	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	7.468000	0.80943	2.677000	0.91161	0.655000	0.94253	CGC		0.463	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.Q546K(89)|p.Q546E(12)		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)	AATCACTGAGCAGGAGAAAGA	0.358		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"""	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	3											61.0	61.0	61.0					3																	178936094		1814	4072	5886	180418788	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.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys		180418788	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
ST6GAL1	6480	hgsc.bcm.edu	37	3	186793465	186793465	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr3:186793465G>A	ENST00000169298.3	+	8	1769	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	ST6GAL1_ENST00000457772.2_Silent_p.T134T|ST6GAL1_ENST00000448044.1_Silent_p.T365T	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	365					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTGCCTGCACGATGGGTGCCT	0.512																																																	0			3											119.0	102.0	108.0					3																	186793465		2203	4300	6503	188276159	SO:0001819	synonymous_variant	6480			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1095G>A	3.37:g.186793465G>A			188276159	A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	CCDS3285.1																																																																																				0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216	
CLEC4D	338339	hgsc.bcm.edu	37	12	8667891	8667891	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:8667891C>T	ENST00000299665.2	+	2	281	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	30					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TTTCATCTTACTTCTCAGTGT	0.378																																																	0			12											242.0	204.0	217.0					12																	8667891		2203	4300	6503	8559158	SO:0001583	missense	338339			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.88C>T	12.37:g.8667891C>T	ENSP00000299665:p.Leu30Phe		8559158	Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	C	0.631	-0.817207	0.02776	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.12039	2.72;3.24	3.36	-1.06	0.10002	.	.	.	.	.	T	0.07773	0.0195	L	0.31371	0.925	0.09310	N	1	B	0.20368	0.044	B	0.17722	0.019	T	0.37549	-0.9701	9	0.37606	T	0.19	.	1.3817	0.02231	0.3793:0.3121:0.1864:0.1222	.	30	Q8WXI8	CLC4D_HUMAN	F	30	ENSP00000371496:L30F;ENSP00000299665:L30F	ENSP00000299665:L30F	L	+	1	0	CLEC4D	8559158	0.000000	0.05858	0.031000	0.17742	0.011000	0.07611	-0.997000	0.03705	-0.231000	0.09825	0.549000	0.68633	CTT		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
PAN2	9924	hgsc.bcm.edu	37	12	56718842	56718842	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:56718842G>A	ENST00000425394.2	-	10	1926	c.1550C>T	c.(1549-1551)gCt>gTt	p.A517V	PAN2_ENST00000440411.3_Missense_Mutation_p.A517V|PAN2_ENST00000548043.1_Missense_Mutation_p.A517V|PAN2_ENST00000257931.5_Missense_Mutation_p.A517V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTCTAATCCAGCAAACAAGGT	0.448																																																	0			12											224.0	214.0	218.0					12																	56718842		2203	4300	6503	55005109	SO:0001583	missense	147945			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1550C>T	12.37:g.56718842G>A	ENSP00000401721:p.Ala517Val		55005109		Missense_Mutation	SNP	ENST00000425394.2	37	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884227	0.91814	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	4.85	4.85	0.62838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.46670	1.46	0.80722	D	1	P;P;P	0.51057	0.909;0.909;0.941	P;P;P	0.53313	0.58;0.58;0.723	T	0.02683	-1.1124	10	0.42905	T	0.14	-11.9064	17.1133	0.86682	0.0:0.0:1.0:0.0	.	517;517;517	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	517	ENSP00000401721:A517V;ENSP00000388231:A517V;ENSP00000257931:A517V;ENSP00000449861:A517V	ENSP00000257931:A517V	A	-	2	0	PAN2	55005109	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.735000	0.98825	2.404000	0.81709	0.557000	0.71058	GCT		0.448	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
CCDC59	29080	hgsc.bcm.edu	37	12	82747086	82747086	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:82747086G>A	ENST00000256151.7	-	4	981	c.570C>T	c.(568-570)ttC>ttT	p.F190F	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						TTCTCCTCTCGAATTCCTAAA	0.328																																																	0			12											91.0	86.0	87.0					12																	82747086		2203	4299	6502	81271217	SO:0001819	synonymous_variant	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.570C>T	12.37:g.82747086G>A			81271217	Q9H2V5|Q9NW62	Silent	SNP	ENST00000256151.7	37	CCDS9023.1																																																																																				0.328	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1	NM_014167	
PRTG	283659	hgsc.bcm.edu	37	15	55919279	55919279	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr15:55919279C>T	ENST00000389286.4	-	17	2901	c.2854G>A	c.(2854-2856)Gct>Act	p.A952T		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACACCTACAGCAATGCCAGTC	0.373																																																	0			15											117.0	113.0	115.0					15																	55919279		1929	4134	6063	53706571	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2854G>A	15.37:g.55919279C>T	ENSP00000373937:p.Ala952Thr		53706571		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585947	0.46110	.	.	ENSG00000166450	ENST00000389286	T	0.50001	0.76	5.17	3.28	0.37604	.	0.391879	0.28635	N	0.014655	T	0.34077	0.0885	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.18241	-1.0343	10	0.54805	T	0.06	-12.3768	9.8547	0.41079	0.0:0.8355:0.0:0.1645	.	952	Q2VWP7	PRTG_HUMAN	T	952	ENSP00000373937:A952T	ENSP00000373937:A952T	A	-	1	0	PRTG	53706571	0.998000	0.40836	0.770000	0.31555	0.997000	0.91878	2.325000	0.43840	1.188000	0.43014	0.557000	0.71058	GCT		0.373	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
IGDCC4	57722	hgsc.bcm.edu	37	15	65703614	65703614	+	Silent	SNP	T	T	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr15:65703614T>A	ENST00000352385.2	-	2	374	c.165A>T	c.(163-165)ctA>ctT	p.L55L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	55	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCTACAGTTTAGCACTGCAG	0.647																																																	0			15											39.0	36.0	37.0					15																	65703614		2201	4299	6500	63490667	SO:0001819	synonymous_variant	57722				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.165A>T	15.37:g.65703614T>A			63490667	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																				0.647	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962	
WHAMM	123720	hgsc.bcm.edu	37	15	83495232	83495232	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr15:83495232A>C	ENST00000286760.4	+	7	1628	c.1529A>C	c.(1528-1530)cAt>cCt	p.H510P		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	510	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TCTCGTCAGCATCACAGTATT	0.448																																																	0			15											131.0	125.0	127.0					15																	83495232		1962	4157	6119	81292286	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1529A>C	15.37:g.83495232A>C	ENSP00000286760:p.His510Pro		81292286	Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263092	0.80358	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08008	3.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02774	-1.1112	10	0.72032	D	0.01	.	15.0909	0.72192	1.0:0.0:0.0:0.0	.	510	Q8TF30	WHAMM_HUMAN	P	510	ENSP00000286760:H510P	ENSP00000234505:H510P	H	+	2	0	WHAMM	81292286	1.000000	0.71417	0.905000	0.35620	0.928000	0.56348	7.820000	0.86633	2.158000	0.67659	0.455000	0.32223	CAT		0.448	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
AMER1	139285	hgsc.bcm.edu	37	X	63412095	63412095	+	Nonsense_Mutation	SNP	G	G	A	rs137852217		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrX:63412095G>A	ENST00000330258.3	-	2	1344	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.R358*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.R358*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	358					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.R358*(9)									CAGGAACTTCGCTTGGTCCCA	0.527																																																	76	Whole gene deletion(67)|Substitution - Nonsense(9)	kidney(70)|large_intestine(5)|ovary(1)	X	GRCh37	CM090019	FAM123B	M	rs137852217						153.0	136.0	142.0					X																	63412095		2203	4300	6503	63328820	SO:0001587	stop_gained	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1072C>T	X.37:g.63412095G>A	ENSP00000329117:p.Arg358*		63328820	A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	38	7.185009	0.98121	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.18	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3576	13.9688	0.64225	0.0:0.0:0.3525:0.6475	.	.	.	.	X	358	.	ENSP00000329117:R358X	R	-	1	2	FAM123B	63328820	0.081000	0.21417	0.853000	0.33588	0.996000	0.88848	0.184000	0.16939	-0.004000	0.14419	0.529000	0.55759	CGA		0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
IRS4	8471	hgsc.bcm.edu	37	X	107976412	107976412	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrX:107976412A>T	ENST00000372129.2	-	1	3239	c.3163T>A	c.(3163-3165)Tgt>Agt	p.C1055S	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1055					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATATCCATACAGCACTCAGAA	0.522																																																	0			X											81.0	79.0	80.0					X																	107976412		2203	4300	6503	107863068	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3163T>A	X.37:g.107976412A>T	ENSP00000361202:p.Cys1055Ser		107863068		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.175170	0.57692	.	.	ENSG00000133124	ENST00000372129	T	0.52057	0.68	5.38	2.95	0.34219	.	0.311162	0.29653	N	0.011550	T	0.27524	0.0676	L	0.27053	0.805	0.33740	D	0.619359	B	0.26483	0.15	B	0.28991	0.097	T	0.20338	-1.0278	10	0.15499	T	0.54	-11.0692	3.8058	0.08776	0.5538:0.0:0.1021:0.3441	.	1055	O14654	IRS4_HUMAN	S	1055	ENSP00000361202:C1055S	ENSP00000361202:C1055S	C	-	1	0	IRS4	107863068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.078000	0.30754	1.982000	0.57802	0.486000	0.48141	TGT		0.522	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
IRS4	8471	hgsc.bcm.edu	37	X	107978810	107978810	+	Silent	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrX:107978810C>A	ENST00000372129.2	-	1	841	c.765G>T	c.(763-765)cgG>cgT	p.R255R	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	255	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTAGACACAGCCGGAACACGC	0.612																																																	0			X											56.0	47.0	50.0					X																	107978810		2203	4300	6503	107865466	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.765G>T	X.37:g.107978810C>A			107865466		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																				0.612	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
RBMXL3	139804	hgsc.bcm.edu	37	X	114425192	114425192	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrX:114425192G>A	ENST00000424776.3	+	1	1230	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	396	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GAGGCCGCTCGCCCGACGCCC	0.627													G|||	3	0.000794702	0.0	0.0	3775	,	,		6899	0.001		0.002	False		,,,				2504	0.0																0			X											17.0	19.0	18.0					X																	114425192		690	1589	2279	114331448	SO:0001819	synonymous_variant	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1188G>A	X.37:g.114425192G>A			114331448	B4DXC0	Silent	SNP	ENST00000424776.3	37	CCDS55478.1																																																																																				0.627	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
FLNA	2316	hgsc.bcm.edu	37	X	153577744	153577744	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrX:153577744T>C	ENST00000369850.3	-	47	7978	c.7742A>G	c.(7741-7743)gAc>gGc	p.D2581G	FLNA_ENST00000422373.1_Missense_Mutation_p.D2573G|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369856.3_Missense_Mutation_p.D714G|FLNA_ENST00000360319.4_Missense_Mutation_p.D2573G|FLNA_ENST00000344736.4_Missense_Mutation_p.D2541G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2581	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGCTGCAGTCTACTGTGAA	0.657																																																	0			X											51.0	54.0	53.0					X																	153577744		1961	4115	6076	153230938	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7742A>G	X.37:g.153577744T>C	ENSP00000358866:p.Asp2581Gly		153230938	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373166	0.61624	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	6.04	6.04	0.98038	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	M	0.93283	3.4	0.80722	D	1	B;B;D;D	0.76494	0.001;0.016;0.999;0.999	B;B;D;D	0.75484	0.0;0.043;0.986;0.986	D	0.95232	0.8343	10	0.59425	D	0.04	.	15.5122	0.75793	0.0:0.0:0.0:1.0	.	714;2573;2581;2581	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	G	2573;2249;2573;2581;714;2541	ENSP00000353467:D2573G;ENSP00000416926:D2573G;ENSP00000358866:D2581G;ENSP00000358872:D714G;ENSP00000358863:D2541G	ENSP00000358863:D2541G	D	-	2	0	FLNA	153230938	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	6.205000	0.72148	2.047000	0.60756	0.430000	0.28490	GAC		0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
CRIPAK	285464	hgsc.bcm.edu	37	4	1388817	1388817	+	Missense_Mutation	SNP	C	C	G	rs200606324	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:1388817C>G	ENST00000324803.4	+	1	3478	c.518C>G	c.(517-519)cCa>cGa	p.P173R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGTGGAGTG	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		18475	0.0992		0.0378	False		,,,				2504	0.271																0			4											192.0	130.0	151.0					4																	1388817		2194	4201	6395	1378817	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.518C>G	4.37:g.1388817C>G	ENSP00000323978:p.Pro173Arg		1378817	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	1.909	-0.451230	0.04572	.	.	ENSG00000179979	ENST00000324803	T	0.19250	2.16	1.25	0.276	0.15663	Post-SET domain (1);	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.17369	T	0.5	.	4.4738	0.11726	0.0:0.5796:0.2425:0.1779	.	173	Q8N1N5	CRPAK_HUMAN	R	173	ENSP00000323978:P173R	ENSP00000323978:P173R	P	+	2	0	CRIPAK	1378817	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.368000	0.07543	-0.338000	0.08413	-1.976000	0.00459	CCA		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388819	1388819	+	Missense_Mutation	SNP	T	T	C	rs144797159	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:1388819T>C	ENST00000324803.4	+	1	3480	c.520T>C	c.(520-522)Tgt>Cgt	p.C174R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	174					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGTGGAGTGCC	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		17297	0.0992		0.0378	False		,,,				2504	0.271																0			4											191.0	130.0	151.0					4																	1388819		2194	4196	6390	1378819	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.520T>C	4.37:g.1388819T>C	ENSP00000323978:p.Cys174Arg		1378819	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.950|2.950	-0.216975|-0.216975	0.06101|0.06101	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	1.25|1.25	-0.146|-0.146	0.13432|0.13432	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.20052|.	0.041|.	B|.	0.11329|.	0.006|.	T|T	0.24977|0.24977	-1.0145|-1.0145	9|6	0.66056|0.27082	D|T	0.02|0.32	.|.	4.6847|4.6847	0.12752|0.12752	0.0:0.2124:0.0:0.7876|0.0:0.2124:0.0:0.7876	.|.	174|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	174|157	ENSP00000323978:C174R|.	ENSP00000323978:C174R|ENSP00000372402:M157T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378819|1378819	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	-0.160000|-0.160000	0.10041|0.10041	-0.013000|-0.013000	0.14199|0.14199	0.102000|0.102000	0.15555|0.15555	TGT|ATG		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388974	1388974	+	Silent	SNP	T	T	C	rs71614969	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035																0			4											177.0	128.0	145.0					4																	1388974		2168	4272	6440	1378974	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C			1378974	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
WFS1	7466	hgsc.bcm.edu	37	4	6288867	6288867	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:6288867A>G	ENST00000226760.1	+	3	450	c.280A>G	c.(280-282)Agg>Ggg	p.R94G	WFS1_ENST00000503569.1_Missense_Mutation_p.R94G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	94					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGTCCTGGAGAGGGCCAAGGC	0.582																																																	0			4											52.0	50.0	51.0					4																	6288867		2176	4249	6425	6339768	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.280A>G	4.37:g.6288867A>G	ENSP00000226760:p.Arg94Gly		6339768	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.302313	0.40694	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93811	-3.29;-3.29	3.84	3.84	0.44239	.	0.284353	0.38778	N	0.001564	D	0.90280	0.6960	L	0.52573	1.65	0.28657	N	0.90633	B	0.27679	0.185	B	0.33620	0.167	T	0.82659	-0.0348	10	0.25751	T	0.34	-22.206	10.6348	0.45558	1.0:0.0:0.0:0.0	.	94	O76024	WFS1_HUMAN	G	94	ENSP00000423337:R94G;ENSP00000226760:R94G	ENSP00000226760:R94G	R	+	1	2	WFS1	6339768	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	6.802000	0.75175	1.623000	0.50342	0.459000	0.35465	AGG		0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
KIT	3815	hgsc.bcm.edu	37	4	55592132	55592132	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:55592132A>G	ENST00000288135.5	+	9	1553	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	486	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N486D(1)|p.D479fs*2(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCAAGCACAATGGCACGGT	0.403		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	2	Substitution - Missense(1)|Deletion - Frameshift(1)	soft_tissue(1)|bone(1)	4											138.0	123.0	128.0					4																	55592132		2203	4300	6503	55286889	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1456A>G	4.37:g.55592132A>G	ENSP00000288135:p.Asn486Asp		55286889	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727065	0.69074	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.03242	4.0;4.0	6.02	6.02	0.97574	Immunoglobulin-like fold (1);	0.084638	0.49916	D	0.000122	T	0.10465	0.0256	M	0.72894	2.215	0.44214	D	0.99704	B;P	0.37636	0.21;0.603	B;P	0.44359	0.069;0.447	T	0.00768	-1.1574	10	0.52906	T	0.07	.	15.1157	0.72401	1.0:0.0:0.0:0.0	.	486;486	P10721-2;P10721	.;KIT_HUMAN	D	486	ENSP00000288135:N486D;ENSP00000390987:N486D	ENSP00000288135:N486D	N	+	1	0	KIT	55286889	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.446000	0.73460	2.311000	0.77944	0.533000	0.62120	AAT		0.403	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
PLA2G12A	81579	hgsc.bcm.edu	37	4	110635576	110635576	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:110635576C>A	ENST00000243501.5	-	4	794	c.527G>T	c.(526-528)cGa>cTa	p.R176L	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.R174L	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	176					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GCATGCGGCTCGTTGGCTGTC	0.398																																																	0			4											169.0	170.0	170.0					4																	110635576		2203	4300	6503	110855025	SO:0001583	missense	81579				CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"""phospholipase A2, group XII"""	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.527G>T	4.37:g.110635576C>A	ENSP00000243501:p.Arg176Leu		110855025	Q9BZ89	Missense_Mutation	SNP	ENST00000243501.5	37	CCDS3686.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495711	0.85069	.	.	ENSG00000123739	ENST00000243501;ENST00000502283	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84288	0.0498	9	0.72032	D	0.01	-12.7909	18.844	0.92196	0.0:1.0:0.0:0.0	.	176;176	Q542Y6;Q9BZM1	.;PG12A_HUMAN	L	176;174	.	ENSP00000243501:R176L	R	-	2	0	PLA2G12A	110855025	1.000000	0.71417	0.918000	0.36340	0.255000	0.26057	7.208000	0.77907	2.894000	0.99253	0.655000	0.94253	CGA		0.398	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254868.3		
GMCL1	64395	hgsc.bcm.edu	37	2	70081986	70081986	+	Silent	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:70081986A>G	ENST00000282570.3	+	9	1217	c.966A>G	c.(964-966)gaA>gaG	p.E322E		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	322					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TTGAAACTGAACAAGGAAAAC	0.318																																																	0			2											76.0	79.0	78.0					2																	70081986		2203	4293	6496	69935490	SO:0001819	synonymous_variant	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.966A>G	2.37:g.70081986A>G			69935490	Q9H826|Q9H8V7|Q9H927	Silent	SNP	ENST00000282570.3	37	CCDS1895.1																																																																																				0.318	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
ZNF638	27332	hgsc.bcm.edu	37	2	71627287	71627287	+	Missense_Mutation	SNP	A	A	G	rs571966370		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:71627287A>G	ENST00000409544.1	+	14	3263	c.2633A>G	c.(2632-2634)aAc>aGc	p.N878S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N878S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N878S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	878					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GCCACTGAAAACTGTGCTAAA	0.284																																																	0			2											103.0	112.0	109.0					2																	71627287		2203	4299	6502	71480795	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2633A>G	2.37:g.71627287A>G	ENSP00000386433:p.Asn878Ser		71480795	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	4.124	0.021314	0.08006	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.56103	0.48;1.53;1.53	4.65	2.21	0.28008	.	0.548591	0.17945	N	0.156710	T	0.29288	0.0729	N	0.24115	0.695	0.09310	N	0.999999	P;P;P;P	0.41313	0.622;0.739;0.739;0.745	B;B;B;B	0.36464	0.112;0.164;0.225;0.192	T	0.10917	-1.0609	10	0.11794	T	0.64	-3.9397	6.3078	0.21149	0.7939:0.0:0.2061:0.0	.	878;878;878;878	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	S	457;878;878;878	ENSP00000348066:N878S;ENSP00000264447:N878S;ENSP00000386433:N878S	ENSP00000264447:N878S	N	+	2	0	ZNF638	71480795	0.942000	0.31987	0.166000	0.22797	0.079000	0.17450	1.830000	0.39131	0.822000	0.34565	0.460000	0.39030	AAC		0.284	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	C	C	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chrUnknown:0C>G								None (None upstream) : None (None downstream)																								0.0																																																	0			2																																								79990302	SO:0001628	intergenic_variant	1496																															Unknown.37:g.0C>G			79990302		Missense_Mutation	SNP		37																																																																																				0	0								
DPP10	57628	hgsc.bcm.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.V172I|DPP10_ENST00000409163.1_Missense_Mutation_p.V129I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																																	0			2											84.0	91.0	89.0					2																	116447456		2203	4300	6503	116163926	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile		116163926	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
NCKAP5	344148	hgsc.bcm.edu	37	2	133540046	133540046	+	Silent	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:133540046T>C	ENST00000409261.1	-	14	4711	c.4338A>G	c.(4336-4338)gaA>gaG	p.E1446E	NCKAP5_ENST00000317721.6_Silent_p.E1446E|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1446										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCCAGAAGTTTCTAGCTTGG	0.542																																																	0			2											49.0	48.0	48.0					2																	133540046		1929	4126	6055	133256516	SO:0001819	synonymous_variant	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4338A>G	2.37:g.133540046T>C			133256516	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
LRP1B	53353	hgsc.bcm.edu	37	2	141460038	141460038	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:141460038G>A	ENST00000389484.3	-	38	7079	c.6108C>T	c.(6106-6108)agC>agT	p.S2036S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2036					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2036R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATTCCCATGCTTACAAGGA	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	ovary(1)	2											116.0	107.0	110.0					2																	141460038		2203	4300	6503	141176508	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6108C>T	2.37:g.141460038G>A			141176508	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu	37	2	141607702	141607702	+	Silent	SNP	G	G	A	rs368565366		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:141607702G>A	ENST00000389484.3	-	29	5879	c.4908C>T	c.(4906-4908)aaC>aaT	p.N1636N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1636					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCCAGTTCCGTTAATAAAAG	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2						A		1,4405	4.2+/-10.8	0,1,2202	162.0	169.0	167.0		4908	0.2	1.0	2		167	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1636/4600	141607702	1,13005	2203	4300	6503	141324172	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4908C>T	2.37:g.141607702G>A			141324172	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
RIF1	55183	hgsc.bcm.edu	37	2	152293375	152293375	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:152293375C>T	ENST00000433166.2	+	10	1069	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	RIF1_ENST00000243326.5_Silent_p.P410P|RIF1_ENST00000428287.2_Silent_p.P410P|RIF1_ENST00000453091.2_Silent_p.P410P|RIF1_ENST00000430328.2_Silent_p.P410P|RIF1_ENST00000444746.2_Silent_p.P410P			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CGGGAACTCCCCGAATGAACC	0.423																																																	0			2											54.0	52.0	53.0					2																	152293375		2203	4300	6503	152001621	SO:0001583	missense	55791			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000433166.2:c.1019C>T	2.37:g.152293375C>T	ENSP00000396865:p.Pro340Leu		152001621	A0AVS0|Q9NS16	Silent	SNP	ENST00000433166.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.538669|3.538669	0.65085|0.65085	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000433166|ENST00000414861	.|T	.|0.52526	.|0.66	5.4|5.4	-3.64|-3.64	0.04515|0.04515	.|.	0.214262|0.214262	0.49916|0.49916	D|D	0.000134|0.000134	T|T	0.36386|0.36386	0.0965|0.0965	.|.	.|.	.|.	0.24701|0.24701	N|N	0.993251|0.993251	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|7	0.87932|0.44086	D|T	0|0.13	-1.6492|-1.6492	5.7012|5.7012	0.17883|0.17883	0.3554:0.2584:0.0:0.3862|0.3554:0.2584:0.0:0.3862	.|.	.|.	.|.	.|.	L|S	340|402	.|ENSP00000390486:P402S	ENSP00000396865:P340L|ENSP00000390486:P402S	P|P	+|+	2|1	0|0	RIF1|RIF1	152001621|152001621	0.002000|0.002000	0.14202|0.14202	0.040000|0.040000	0.18447|0.18447	0.678000|0.678000	0.39670|0.39670	-1.480000|-1.480000	0.02325|0.02325	-0.356000|-0.356000	0.08187|0.08187	0.557000|0.557000	0.71058|0.71058	CCC|CCG		0.423	RIF1-201	KNOWN	basic	protein_coding	protein_coding			
ITGB6	3694	hgsc.bcm.edu	37	2	160968619	160968619	+	Missense_Mutation	SNP	T	T	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:160968619T>A	ENST00000283249.2	-	13	2310	c.2073A>T	c.(2071-2073)aaA>aaT	p.K691N	ITGB6_ENST00000428609.2_Missense_Mutation_p.K649N|ITGB6_ENST00000409872.1_Missense_Mutation_p.K691N|ITGB6_ENST00000409967.2_Missense_Mutation_p.K584N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	691					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAATGATGGTTTTCCCCTCAT	0.398																																																	0			2											235.0	210.0	218.0					2																	160968619		2203	4300	6503	160676865	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2073A>T	2.37:g.160968619T>A	ENSP00000283249:p.Lys691Asn		160676865	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520630	0.44866	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.90504	-2.68;-2.68;-1.72;-2.68	6.04	6.04	0.98038	Integrin beta subunit, tail (2);	0.308735	0.34628	N	0.003808	D	0.87775	0.6262	M	0.65975	2.015	0.31206	N	0.699196	B;B	0.22746	0.074;0.074	B;B	0.23018	0.043;0.043	T	0.82741	-0.0307	10	0.26408	T	0.33	.	8.504	0.33175	0.0:0.1463:0.0:0.8537	.	649;691	E9PEE8;P18564	.;ITB6_HUMAN	N	691;649;584;691	ENSP00000283249:K691N;ENSP00000408024:K649N;ENSP00000386828:K584N;ENSP00000386367:K691N	ENSP00000283249:K691N	K	-	3	2	ITGB6	160676865	0.996000	0.38824	1.000000	0.80357	0.898000	0.52572	1.476000	0.35420	2.317000	0.78254	0.460000	0.39030	AAA		0.398	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
PDE11A	50940	hgsc.bcm.edu	37	2	178494183	178494183	+	Silent	SNP	G	G	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:178494183G>T	ENST00000286063.6	-	20	3071	c.2754C>A	c.(2752-2754)gcC>gcA	p.A918A	PDE11A_ENST00000358450.4_Silent_p.A668A|PDE11A_ENST00000389683.3_Silent_p.A474A|PDE11A_ENST00000449286.2_Silent_p.A560A|PDE11A_ENST00000450799.2_Silent_p.A109A|PDE11A_ENST00000409504.1_Silent_p.A560A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	918					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGGAGGATGAGGCAGTTGAGG	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0			2											262.0	209.0	227.0					2																	178494183		2203	4300	6503	178202429	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2754C>A	2.37:g.178494183G>T			178202429	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	8.294	0.818363	0.16607	.	.	ENSG00000128655	ENST00000436700	.	.	.	5.62	3.76	0.43208	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51325	-0.8720	4	.	.	.	.	5.362	0.16093	0.0782:0.1206:0.6158:0.1854	.	.	.	.	I	121	.	.	L	-	1	0	PDE11A	178202429	0.901000	0.30685	0.921000	0.36526	0.204000	0.24138	1.030000	0.30153	1.320000	0.45209	0.591000	0.81541	CTC		0.493	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	hgsc.bcm.edu	37	2	179637980	179637980	+	Nonsense_Mutation	SNP	C	C	A	rs149660690	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:179637980C>A	ENST00000591111.1	-	33	7935	c.7711G>T	c.(7711-7713)Gaa>Taa	p.E2571*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E2571*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2525*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2525*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E2525*|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2571*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2571*			Q8WZ42	TITIN_HUMAN	titin	12894					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTGATTTCCTTGTCCTTA	0.353																																																	0			2											43.0	45.0	44.0					2																	179637980		2203	4300	6503	179346225	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7711G>T	2.37:g.179637980C>A	ENSP00000465570:p.Glu2571*		179346225	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	48	14.884999	0.99814	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7558	0.85498	0.0:0.8713:0.1287:0.0	.	.	.	.	X	2571;2525;2525;2525;2525;2571	.	ENSP00000340554:E2525X	E	-	1	0	TTN	179346225	0.999000	0.42202	0.999000	0.59377	0.487000	0.33371	4.291000	0.59025	2.685000	0.91497	0.650000	0.86243	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC180	100499483	hgsc.bcm.edu	37	9	100136921	100136921	+	Missense_Mutation	SNP	G	G	A	rs186799713		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:100136921G>A	ENST00000357054.1	+	47	5599	c.4664G>A	c.(4663-4665)cGt>cAt	p.R1555H	CCDC180_ENST00000529487.1_Missense_Mutation_p.R1610H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1610H|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1555						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGATTGAACGTGGAAGCAGG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21246	0.001		0.0	False		,,,				2504	0.0																0			9											66.0	58.0	61.0					9																	100136921		2203	4300	6503	99176742	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4664G>A	9.37:g.100136921G>A	ENSP00000349562:p.Arg1555His		99176742	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.3	4.134413	0.77662	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.18174	2.29;2.23;2.23	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000010	T	0.39860	0.1094	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.23547	-1.0185	10	0.72032	D	0.01	-14.5754	11.9238	0.52808	0.0:0.0:1.0:0.0	.	1749;1555	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	1555;1610;1610	ENSP00000349562:R1555H;ENSP00000364348:R1610H;ENSP00000434727:R1610H	ENSP00000349562:R1555H	R	+	2	0	C9orf174	99176742	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	4.760000	0.62235	2.529000	0.85273	0.655000	0.94253	CGT		0.512	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
BRINP1	1620	hgsc.bcm.edu	37	9	121930133	121930133	+	Silent	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:121930133G>A	ENST00000265922.3	-	8	1976	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	505					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGTTGCTGATGAAGGTGGTGT	0.552																																																	0			9											275.0	193.0	221.0					9																	121930133		2203	4300	6503	120969954	SO:0001819	synonymous_variant	57805			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1515C>T	9.37:g.121930133G>A			120969954	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	CCDS6822.1																																																																																				0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
OR1B1	347169	hgsc.bcm.edu	37	9	125391391	125391391	+	Missense_Mutation	SNP	G	G	A	rs139868007	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:125391391G>A	ENST00000304833.3	-	1	461	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CAGGCACACCGTTGGTGATTC	0.532													G|||	3	0.000599042	0.0015	0.0	5008	,	,		20825	0.001		0.0	False		,,,				2504	0.0																0			9						G	TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	100.0	79.0	86.0		424	-0.1	0.0	9	dbSNP_134	86	0,8600		0,0,4300	yes	missense	OR1B1	NM_001004450.1	101	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign	142/319	125391391	10,12996	2203	4300	6503	124431212	SO:0001583	missense	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.424C>T	9.37:g.125391391G>A	ENSP00000303151:p.Arg142Trp		124431212	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	5.152	0.213563	0.09757	0.00227	0.0	ENSG00000171484	ENST00000304833	T	0.41065	1.01	4.26	-0.134	0.13481	GPCR, rhodopsin-like superfamily (1);	0.619816	0.13379	N	0.392300	T	0.27027	0.0662	L	0.39020	1.185	0.09310	N	1	B	0.14438	0.01	B	0.18561	0.022	T	0.28681	-1.0036	10	0.87932	D	0	-2.2736	1.8041	0.03077	0.2642:0.1347:0.4549:0.1463	.	142	Q8NGR6	OR1B1_HUMAN	W	142	ENSP00000303151:R142W	ENSP00000303151:R142W	R	-	1	2	OR1B1	124431212	0.000000	0.05858	0.016000	0.15963	0.183000	0.23260	-0.974000	0.03794	0.151000	0.19162	-0.149000	0.13747	CGG		0.532	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
ABL1	25	hgsc.bcm.edu	37	9	133729537	133729537	+	Missense_Mutation	SNP	G	G	A	rs369393102		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:133729537G>A	ENST00000318560.5	+	2	547	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	56	CAP.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|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)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.A56T(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AAACCTTCTCGCTGGACCCAG	0.488			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	endometrium(1)	9						G	THR/ALA,THR/ALA	0,4406		0,0,2203	139.0	138.0	138.0		166,223	5.8	1.0	9		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	56/1131,75/1150	133729537	1,13005	2203	4300	6503	132719358	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.166G>A	9.37:g.133729537G>A	ENSP00000323315:p.Ala56Thr		132719358	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817290	0.70912	0.0	1.16E-4	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.36340	1.26;1.26	5.85	5.85	0.93711	Src homology-3 domain (1);	0.105641	0.64402	D	0.000004	T	0.25791	0.0628	N	0.24115	0.695	0.47778	D	0.999516	B;B	0.20164	0.011;0.042	B;B	0.09377	0.003;0.004	T	0.03287	-1.1052	10	0.41790	T	0.15	.	12.7664	0.57394	0.0:0.0:0.7434:0.2566	.	56;93	P00519;Q59FK4	ABL1_HUMAN;.	T	75;102;56	ENSP00000361423:A75T;ENSP00000323315:A56T	ENSP00000323315:A56T	A	+	1	0	ABL1	132719358	0.996000	0.38824	0.980000	0.43619	0.987000	0.75469	2.229000	0.42990	2.779000	0.95612	0.638000	0.83543	GCT		0.488	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
FAM78A	286336	hgsc.bcm.edu	37	9	134136564	134136564	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:134136564A>G	ENST00000372271.3	-	2	864	c.497T>C	c.(496-498)gTc>gCc	p.V166A	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.V163A	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	166										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GGCCCATGTGACGCTGGGGTA	0.592																																																	0			9											131.0	119.0	123.0					9																	134136564		2203	4300	6503	133126385	SO:0001583	missense	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.497T>C	9.37:g.134136564A>G	ENSP00000361345:p.Val166Ala		133126385	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452583	0.84209	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.75777	2.31	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72625	0.978;0.978	T	0.80915	-0.1169	9	0.87932	D	0	-57.7356	13.7403	0.62845	1.0:0.0:0.0:0.0	.	166;163	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	A	163;166;135	.	ENSP00000361343:V163A	V	-	2	0	FAM78A	133126385	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.287000	0.95975	1.894000	0.54839	0.379000	0.24179	GTC		0.592	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387	
SARDH	1757	hgsc.bcm.edu	37	9	136577775	136577775	+	Missense_Mutation	SNP	G	G	A	rs79196288	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:136577775G>A	ENST00000371872.4	-	10	1551	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	SARDH_ENST00000422262.2_Missense_Mutation_p.R264C|SARDH_ENST00000439388.1_Missense_Mutation_p.R432C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	432					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.R432C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCTCCGGGCGCCCATGGATG	0.637													G|||	5	0.000998403	0.0008	0.0	5008	,	,		16296	0.004		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9											66.0	66.0	66.0					9																	136577775		2203	4300	6503	135567596	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1294C>T	9.37:g.136577775G>A	ENSP00000360938:p.Arg432Cys		135567596	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	17.49	3.401866	0.62288	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85484	-1.99;-1.99;-1.99	4.68	3.77	0.43336	.	0.105347	0.64402	D	0.000003	D	0.88100	0.6346	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	D	0.90179	0.4241	10	0.87932	D	0	-28.7148	12.1658	0.54129	0.0834:0.0:0.9166:0.0	.	432	Q9UL12	SARDH_HUMAN	C	432;432;264;432;432	ENSP00000360938:R432C;ENSP00000403084:R432C;ENSP00000415537:R264C	ENSP00000360938:R432C	R	-	1	0	SARDH	135567596	1.000000	0.71417	0.997000	0.53966	0.336000	0.28762	6.415000	0.73328	2.140000	0.66376	0.563000	0.77884	CGC		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
CARD9	64170	hgsc.bcm.edu	37	9	139262114	139262114	+	Missense_Mutation	SNP	C	C	T	rs147340708		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:139262114C>T	ENST00000371732.5	-	8	1409	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.R415Q	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	415					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CAGCTGCTGCCGCCTGAGCCT	0.721																																																	0			9						C	GLN/ARG,GLN/ARG	1,4365		0,1,2182	23.0	22.0	23.0		1244,1244	2.8	1.0	9	dbSNP_134	23	0,8576		0,0,4288	no	missense,missense	CARD9	NM_052813.4,NM_052814.3	43,43	0,1,6470	TT,TC,CC		0.0,0.0229,0.0077	benign,benign	415/537,415/493	139262114	1,12941	2183	4288	6471	138381935	SO:0001583	missense	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1244G>A	9.37:g.139262114C>T	ENSP00000360797:p.Arg415Gln		138381935	Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526213	0.44969	2.29E-4	0.0	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.33865	1.39;1.39	3.76	2.8	0.32819	.	0.206543	0.30742	N	0.008964	T	0.23410	0.0566	L	0.37850	1.14	0.80722	D	1	B;B;B	0.23490	0.086;0.068;0.041	B;B;B	0.15052	0.012;0.012;0.003	T	0.06041	-1.0849	10	0.38643	T	0.18	-25.1955	5.4639	0.16632	0.0:0.813:0.0:0.187	.	311;415;415	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	Q	415	ENSP00000360799:R415Q;ENSP00000360797:R415Q	ENSP00000360797:R415Q	R	-	2	0	CARD9	138381935	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	2.016000	0.40971	0.810000	0.34279	0.591000	0.81541	CGG		0.721	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813	
MTMR6	9107	hgsc.bcm.edu	37	13	25828083	25828083	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr13:25828083C>T	ENST00000381801.5	-	11	1926	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	MTMR6_ENST00000540661.1_Missense_Mutation_p.D389N	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	389	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCTTTGGGTCACCATCCAAC	0.408																																																	0			13											95.0	83.0	88.0					13																	25828083		2203	4300	6503	24726083	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1165G>A	13.37:g.25828083C>T	ENSP00000371221:p.Asp389Asn		24726083	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347414	0.95807	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.90133	-2.62;-2.62	5.66	5.66	0.87406	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.49571	1.57	0.80722	D	1	D;P	0.55605	0.972;0.817	P;P	0.54026	0.74;0.456	D	0.91985	0.5598	10	0.49607	T	0.09	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	389;389	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	N	389	ENSP00000443161:D389N;ENSP00000371221:D389N	ENSP00000371221:D389N	D	-	1	0	MTMR6	24726083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.665000	0.90641	0.650000	0.86243	GAC		0.408	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
FAM216B	144809	hgsc.bcm.edu	37	13	43362741	43362741	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr13:43362741C>T	ENST00000537894.1	+	4	358	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	FAM216B_ENST00000313851.1_Missense_Mutation_p.R79W	NM_182508.2	NP_872314.1	Q8N7L0	F216B_HUMAN	family with sequence similarity 216, member B	79																	TATTACTCAACGGGAAGCCTT	0.388																																																	0			13											107.0	106.0	106.0					13																	43362741		2203	4300	6503	42260741	SO:0001583	missense	144809			AK098238	CCDS9386.1	13q14.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000179813	ENSG00000179813			26883	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 30"""	C13orf30			Standard	NM_182508		Approved	FLJ40919	uc010tfk.2	Q8N7L0	OTTHUMG00000016809	ENST00000537894.1:c.235C>T	13.37:g.43362741C>T	ENSP00000445786:p.Arg79Trp		42260741	B1ALI3	Missense_Mutation	SNP	ENST00000537894.1	37	CCDS9386.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549158	0.45383	.	.	ENSG00000179813	ENST00000537894;ENST00000313851	T;T	0.50548	0.74;0.74	4.21	2.43	0.29744	.	0.978989	0.08323	N	0.963563	T	0.43765	0.1262	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	P	0.50896	0.653	T	0.34229	-0.9837	10	0.72032	D	0.01	0.0844	9.4108	0.38491	0.3849:0.6151:0.0:0.0	.	79	Q8N7L0	CM030_HUMAN	W	79	ENSP00000445786:R79W;ENSP00000319336:R79W	ENSP00000319336:R79W	R	+	1	2	C13orf30	42260741	0.001000	0.12720	0.178000	0.23040	0.905000	0.53344	0.159000	0.16442	0.685000	0.31468	0.655000	0.94253	CGG		0.388	FAM216B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044705.2	NM_182508	
IL2RA	3559	hgsc.bcm.edu	37	10	6063567	6063567	+	Missense_Mutation	SNP	C	C	T	rs201188114	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr10:6063567C>T	ENST00000379959.3	-	4	630	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Missense_Mutation_p.V153I	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	153	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TATCCCTGGACGCACTGATAA	0.532													C|||	76	0.0151757	0.0	0.0	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.0777																0			10											181.0	159.0	166.0					10																	6063567		2203	4300	6503	6103573	SO:0001583	missense	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.457G>A	10.37:g.6063567C>T	ENSP00000369293:p.Val153Ile		6103573	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.665796	0.00765	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	T;T	0.64618	-0.11;-0.11	4.32	-8.63	0.00878	Complement control module (2);Sushi/SCR/CCP (3);	3.538250	0.00575	N	0.000303	T	0.25306	0.0615	N	0.00483	-1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39333	-0.9619	10	0.13470	T	0.59	-21.2916	10.7762	0.46350	0.0:0.1025:0.2484:0.6491	.	153	P01589	IL2RA_HUMAN	I	153	ENSP00000369293:V153I;ENSP00000256876:V153I	ENSP00000256876:V153I	V	-	1	0	IL2RA	6103573	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.365000	0.00245	-2.798000	0.00353	-0.827000	0.03088	GTC		0.532	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
ITIH5	80760	hgsc.bcm.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373																																																	0			10											226.0	219.0	221.0					10																	7682790		2203	4300	6503	7722796	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.328G>A	10.37:g.7682790C>T	ENSP00000256861:p.Glu110Lys		7722796	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.313441	0.60414	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.24350	1.86;1.86;1.86	5.71	4.81	0.61882	Vault protein inter-alpha-trypsin (2);	0.416738	0.28853	N	0.013929	T	0.17916	0.0430	.	.	.	0.42695	D	0.993593	P;P	0.46656	0.574;0.882	B;B	0.36289	0.036;0.221	T	0.02167	-1.1202	9	0.34782	T	0.22	-30.6759	12.0934	0.53739	0.0:0.9198:0.0:0.0802	.	110;110	G5E9D8;Q86UX2	.;ITIH5_HUMAN	K	110	ENSP00000256861:E110K;ENSP00000380333:E110K;ENSP00000380332:E110K	ENSP00000256861:E110K	E	-	1	0	ITIH5	7722796	0.998000	0.40836	0.999000	0.59377	0.777000	0.43975	3.418000	0.52721	2.678000	0.91216	0.563000	0.77884	GAA		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
MSMB	4477	hgsc.bcm.edu	37	10	51562381	51562381	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr10:51562381T>C	ENST00000358559.2	+	4	413	c.326T>C	c.(325-327)gTc>gCc	p.V109A	NCOA4_ENST00000374087.4_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.S74P|NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000452682.1_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	109						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V109D(1)		lung(4)|ovary(2)|prostate(1)	7						ACCTGTTCTGTCAGTGAATGG	0.468																																																	1	Substitution - Missense(1)	ovary(1)	10											172.0	146.0	155.0					10																	51562381		2203	4300	6503	51232387	SO:0001583	missense	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.326T>C	10.37:g.51562381T>C	ENSP00000351363:p.Val109Ala		51232387	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.19|13.19	2.163035|2.163035	0.38217|0.38217	.|.	.|.	ENSG00000138294|ENSG00000138294	ENST00000298239|ENST00000358559	T|T	0.28255|0.12984	1.62|2.63	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.451809	.|0.20798	.|N	.|0.085481	T|T	0.24509|0.24509	0.0594|0.0594	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D	0.76494|0.54964	0.999|0.969	D|P	0.72075|0.55112	0.976|0.769	T|T	0.03483|0.03483	-1.1032|-1.1032	8|9	0.87932|0.87932	D|D	0|0	-14.1726|-14.1726	9.9184|9.9184	0.41448|0.41448	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74|109	P08118-2|P08118	.|MSMB_HUMAN	P|A	74|109	ENSP00000298239:S74P|ENSP00000351363:V109A	ENSP00000298239:S74P|ENSP00000351363:V109A	S|V	+|+	1|2	0|0	MSMB|MSMB	51232387|51232387	0.266000|0.266000	0.24112|0.24112	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	3.032000|3.032000	0.49736|0.49736	2.126000|2.126000	0.65437|0.65437	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.468	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634	
SORCS1	114815	hgsc.bcm.edu	37	10	108357185	108357185	+	Silent	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr10:108357185C>T	ENST00000263054.6	-	24	3196	c.3189G>A	c.(3187-3189)acG>acA	p.T1063T	SORCS1_ENST00000369698.1_Silent_p.T598T|SORCS1_ENST00000344440.6_Silent_p.T1063T|SORCS1_ENST00000478809.2_5'Flank	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1063					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T1063T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTGGTTGAGCGTGTGGATCA	0.433																																																	1	Substitution - coding silent(1)	large_intestine(1)	10											150.0	139.0	143.0					10																	108357185		2203	4300	6503	108347175	SO:0001819	synonymous_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3189G>A	10.37:g.108357185C>T			108347175	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036802	0.19669	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.71	-0.0738	0.13733	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	-12.778	0.9283	0.01329	0.2442:0.3528:0.1199:0.283	.	.	.	.	H	78	.	.	R	-	2	0	SORCS1	108347175	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.675000	0.25232	0.323000	0.23307	-0.181000	0.13052	CGC		0.433	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
FBXL7	23194	hgsc.bcm.edu	37	5	15616099	15616099	+	Silent	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:15616099C>A	ENST00000504595.1	+	2	526	c.45C>A	c.(43-45)ggC>ggA	p.G15G	FBXL7_ENST00000510662.1_5'UTR|FBXL7_ENST00000329673.7_Silent_p.G3G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	15					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGGCAAAGGCAGCTCGAGCA	0.507																																																	0			5											80.0	80.0	80.0					5																	15616099		1997	4174	6171	15669099	SO:0001819	synonymous_variant	23194			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.45C>A	5.37:g.15616099C>A			15669099	B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	CCDS54833.1																																																																																				0.507	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
CDH9	1007	hgsc.bcm.edu	37	5	26988292	26988292	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:26988292C>T	ENST00000231021.4	-	2	321	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	50					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACGCTTGGTGCGACGTAGCAT	0.393																																					Melanoma(8;187 585 15745 40864 52829)												0			5											121.0	115.0	117.0					5																	26988292		2203	4300	6503	27024049	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.149G>A	5.37:g.26988292C>T	ENSP00000231021:p.Arg50His		27024049	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138442	0.94560	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00585	6.39;6.39;6.39	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	L	0.49126	1.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.72849	-0.4168	9	.	.	.	.	18.2526	0.90009	0.0:1.0:0.0:0.0	.	50;50	E7EPN0;Q9ULB4	.;CADH9_HUMAN	H	50	ENSP00000231021:R50H;ENSP00000426239:R50H;ENSP00000422538:R50H	.	R	-	2	0	CDH9	27024049	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.157000	0.77461	2.652000	0.90054	0.591000	0.81541	CGC		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
IL31RA	133396	hgsc.bcm.edu	37	5	55195898	55195898	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:55195898C>A	ENST00000447346.2	+	8	1072	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	IL31RA_ENST00000396834.1_Missense_Mutation_p.S317Y|IL31RA_ENST00000354961.4_Missense_Mutation_p.S317Y|IL31RA_ENST00000490985.1_Missense_Mutation_p.S194Y|IL31RA_ENST00000297015.3_Missense_Mutation_p.S194Y|IL31RA_ENST00000396836.2_Missense_Mutation_p.S336Y|IL31RA_ENST00000359040.5_Missense_Mutation_p.S336Y	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	304	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTATGATTTCTTATAATTCT	0.443																																																	0			5											139.0	151.0	147.0					5																	55195898		2203	4300	6503	55231655	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1007C>A	5.37:g.55195898C>A	ENSP00000415900:p.Ser336Tyr		55231655	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	10.59	1.394236	0.25205	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	4.41	3.46	0.39613	Fibronectin, type III (1);	0.328024	0.31936	N	0.006840	T	0.16428	0.0395	L	0.45581	1.43	0.31987	N	0.60511	B;B;B;B;B	0.33637	0.236;0.2;0.2;0.2;0.42	B;B;B;B;B	0.34652	0.091;0.09;0.061;0.142;0.187	T	0.12837	-1.0532	10	0.56958	D	0.05	-14.719	11.2958	0.49277	0.182:0.818:0.0:0.0	.	304;336;317;336;336	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	Y	336;317;336;336;194;194;317	ENSP00000380048:S336Y;ENSP00000380046:S317Y;ENSP00000415900:S336Y;ENSP00000351935:S336Y;ENSP00000297015:S194Y;ENSP00000427533:S194Y;ENSP00000347047:S317Y	ENSP00000297015:S194Y	S	+	2	0	IL31RA	55231655	0.949000	0.32298	0.939000	0.37840	0.666000	0.39218	2.588000	0.46137	2.445000	0.82738	0.655000	0.94253	TCT		0.443	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
RNF180	285671	hgsc.bcm.edu	37	5	63621206	63621206	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:63621206G>A	ENST00000389100.4	+	6	1493	c.1421G>A	c.(1420-1422)cGg>cAg	p.R474Q		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	474	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCATTGTGTCGGACAATTATT	0.393																																																	0			5											149.0	117.0	127.0					5																	63621206		692	1591	2283	63656962	SO:0001583	missense	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1421G>A	5.37:g.63621206G>A	ENSP00000373752:p.Arg474Gln		63656962	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199531	0.94997	.	.	ENSG00000164197	ENST00000389100	D	0.82711	-1.64	5.02	5.02	0.67125	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.277119	0.30658	N	0.009144	D	0.88224	0.6379	M	0.75447	2.3	0.80722	D	1	D	0.58970	0.984	P	0.53102	0.718	D	0.90007	0.4118	10	0.87932	D	0	-1.5118	17.6992	0.88290	0.0:0.0:1.0:0.0	.	474	Q86T96	RN180_HUMAN	Q	474	ENSP00000373752:R474Q	ENSP00000373752:R474Q	R	+	2	0	RNF180	63656962	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.302000	0.96175	2.485000	0.83878	0.643000	0.83706	CGG		0.393	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
ERBB2IP	55914	hgsc.bcm.edu	37	5	65342359	65342359	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:65342359T>C	ENST00000284037.5	+	18	2170	c.1781T>C	c.(1780-1782)gTt>gCt	p.V594A	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.V594A|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.V590A|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.V594A|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.V594A|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.V594A|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.V594A|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.V594A|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.V594A	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	594					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATGATGATGTTTTTGAGGTA	0.328																																																	0			5											118.0	125.0	123.0					5																	65342359		2203	4300	6503	65378115	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1781T>C	5.37:g.65342359T>C	ENSP00000284037:p.Val594Ala		65378115	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258229	0.39896	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	5.68	3.34	0.38264	.	0.347112	0.29551	N	0.011840	T	0.03564	0.0102	N	0.08118	0	0.24318	N	0.995057	B;B;B;B;B;B;B	0.24132	0.052;0.075;0.075;0.024;0.0;0.098;0.091	B;B;B;B;B;B;B	0.26969	0.069;0.051;0.051;0.031;0.001;0.075;0.05	T	0.37776	-0.9691	10	0.56958	D	0.05	.	7.1522	0.25616	0.0:0.2452:0.0:0.7548	.	594;594;594;590;594;594;594	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	A	594;594;594;594;594;594;590;594;594	ENSP00000284037:V594A;ENSP00000370330:V594A;ENSP00000370326:V594A;ENSP00000370323:V594A;ENSP00000370322:V594A;ENSP00000370325:V594A;ENSP00000422766:V590A;ENSP00000426632:V594A;ENSP00000422015:V594A	ENSP00000284037:V594A	V	+	2	0	ERBB2IP	65378115	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.253000	0.18296	0.992000	0.38840	0.533000	0.62120	GTT		0.328	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
APC	324	hgsc.bcm.edu	37	5	112173849	112173849	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:112173849A>G	ENST00000457016.1	+	16	2938	c.2558A>G	c.(2557-2559)gAg>gGg	p.E853G	APC_ENST00000257430.4_Missense_Mutation_p.E853G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E853G			P25054	APC_HUMAN	adenomatous polyposis coli	853	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.?(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)		AGAAGTTTGGAGAGAGAACGC	0.448		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											66.0	67.0	66.0					5																	112173849		2202	4300	6502	112201748	SO:0001583	missense	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.2558A>G	5.37:g.112173849A>G	ENSP00000413133:p.Glu853Gly		112201748	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778440	0.31502	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94330	-2.67;-3.4;-2.67;-2.67;-2.85	6.16	6.16	0.99307	.	0.073236	0.56097	D	0.000021	D	0.89234	0.6657	L	0.34521	1.04	0.36291	D	0.856434	B;B	0.23937	0.0;0.094	B;B	0.16722	0.001;0.016	D	0.87781	0.2612	10	0.33940	T	0.23	-17.3326	15.3771	0.74615	1.0:0.0:0.0:0.0	.	855;853	Q4LE70;P25054	.;APC_HUMAN	G	853;835;853;853;853	ENSP00000413133:E853G;ENSP00000423224:E835G;ENSP00000257430:E853G;ENSP00000427089:E853G;ENSP00000423828:E853G	ENSP00000257430:E853G	E	+	2	0	APC	112201748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.367000	0.80283	0.528000	0.53228	GAG		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*			P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	5	GRCh37	CM930030	APC	M	rs121913332						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TRPC7	57113	hgsc.bcm.edu	37	5	135692763	135692763	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:135692763G>A	ENST00000513104.1	-	2	595	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	TRPC7_ENST00000355180.3_Missense_Mutation_p.R105W|TRPC7_ENST00000426057.2_Missense_Mutation_p.R105W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	105					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R105W(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCCCACCCGTGCCAGGTTC	0.652																																																	2	Substitution - Missense(2)	large_intestine(2)	5											56.0	65.0	62.0					5																	135692763		2203	4300	6503	135720662	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.313C>T	5.37:g.135692763G>A	ENSP00000426070:p.Arg105Trp		135720662	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.06|18.06	3.540262|3.540262	0.65085|0.65085	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.71103|.	-0.54;-0.54;-0.54|.	5.0|5.0	4.06|4.06	0.47325|0.47325	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71854|0.71854	0.3389|0.3389	M|M	0.78637|0.78637	2.42|2.42	0.33398|0.33398	D|D	0.576973|0.576973	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.993;0.982;0.999;0.998|.	T|T	0.79364|0.79364	-0.1834|-0.1834	10|5	0.87932|.	D|.	0|.	-15.3684|-15.3684	16.0147|16.0147	0.80427|0.80427	0.0:0.0:0.8568:0.1432|0.0:0.0:0.8568:0.1432	.|.	105;105;105;105|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	W|M	105|104	ENSP00000347312:R105W;ENSP00000441628:R105W;ENSP00000426070:R105W|.	ENSP00000265193:R105W|.	R|T	-|-	1|2	2|0	TRPC7|TRPC7	135720662|135720662	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	3.406000|3.406000	0.52637|0.52637	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.652	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PCDHA5	56143	hgsc.bcm.edu	37	5	140202772	140202772	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:140202772G>T	ENST00000529859.1	+	1	1412	c.1412G>T	c.(1411-1413)tGc>tTc	p.C471F	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.C471F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.C471F	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCAGGCTGCCACATCTTC	0.672																																																	0			5											72.0	76.0	75.0					5																	140202772		2203	4300	6503	140182956	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1412G>T	5.37:g.140202772G>T	ENSP00000436557:p.Cys471Phe		140182956	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190382	0.21954	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.51071	0.72;0.72;0.72	3.86	2.0	0.26442	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35422	0.0931	N	0.01874	-0.695	0.09310	N	1	P;P;B	0.45283	0.806;0.855;0.307	P;B;B	0.55112	0.769;0.266;0.06	T	0.38908	-0.9639	9	0.87932	D	0	.	10.6099	0.45415	0.0884:0.5581:0.3534:0.0	.	471;471;471	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	F	471	ENSP00000433416:C471F;ENSP00000436557:C471F;ENSP00000367366:C471F	ENSP00000367366:C471F	C	+	2	0	PCDHA5	140182956	0.000000	0.05858	0.950000	0.38849	0.714000	0.41099	-0.063000	0.11655	0.207000	0.20607	0.461000	0.40582	TGC		0.672	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHA11	56138	hgsc.bcm.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A	rs374687707		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:140250913G>A	ENST00000398640.2	+	1	2225	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	742	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677																																																	0			5											29.0	31.0	31.0					5																	140250913		2203	4300	6503	140231097	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2225G>A	5.37:g.140250913G>A	ENSP00000381636:p.Arg742His		140231097	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	7.643	0.681315	0.14907	.	.	ENSG00000249158	ENST00000398640	T	0.11604	2.76	4.6	2.37	0.29283	.	.	.	.	.	T	0.05640	0.0148	N	0.11064	0.09	0.22571	N	0.998978	B;B	0.27732	0.187;0.002	B;B	0.30029	0.11;0.004	T	0.44574	-0.9319	9	0.19590	T	0.45	.	7.384	0.26872	0.1685:0.1512:0.6803:0.0	.	742;742	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	742	ENSP00000381636:R742H	ENSP00000381636:R742H	R	+	2	0	PCDHA11	140231097	1.000000	0.71417	0.990000	0.47175	0.145000	0.21501	2.796000	0.47869	0.894000	0.36317	0.655000	0.94253	CGC		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHB10	56126	hgsc.bcm.edu	37	5	140573591	140573591	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:140573591C>T	ENST00000239446.4	+	1	1650	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.667																																																	0			5											84.0	98.0	93.0					5																	140573591		2203	4298	6501	140553775	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1466C>T	5.37:g.140573591C>T	ENSP00000239446:p.Ser489Leu		140553775	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.262969	0.59431	.	.	ENSG00000120324	ENST00000239446	T	0.03094	4.05	3.32	3.32	0.38043	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20047	0.0482	M	0.86097	2.795	0.33743	D	0.619694	D	0.89917	1.0	D	0.81914	0.995	T	0.38286	-0.9668	9	0.72032	D	0.01	.	14.8575	0.70351	0.0:1.0:0.0:0.0	.	489	Q9UN67	PCDBA_HUMAN	L	489	ENSP00000239446:S489L	ENSP00000239446:S489L	S	+	2	0	PCDHB10	140553775	0.102000	0.21896	1.000000	0.80357	0.734000	0.41952	0.489000	0.22387	1.880000	0.54463	0.549000	0.68633	TCG		0.667	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
FAT2	2196	hgsc.bcm.edu	37	5	150922759	150922759	+	Silent	SNP	G	G	T			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:150922759G>T	ENST00000261800.5	-	9	7941	c.7929C>A	c.(7927-7929)gtC>gtA	p.V2643V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2643	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCTTGACCACACCAG	0.488																																																	0			5											133.0	126.0	128.0					5																	150922759		2203	4300	6503	150902952	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7929C>A	5.37:g.150922759G>T			150902952	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.488	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
NSD1	64324	hgsc.bcm.edu	37	5	176696731	176696731	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr5:176696731G>A	ENST00000439151.2	+	16	5477	c.5432G>A	c.(5431-5433)cGa>cAa	p.R1811Q	NSD1_ENST00000361032.4_Missense_Mutation_p.R1708Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R1542Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1542Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1811	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACCAGGCCCGAGTCTTCCCT	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											116.0	110.0	112.0					5																	176696731		2203	4300	6503	176629337	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5432G>A	5.37:g.176696731G>A	ENSP00000395929:p.Arg1811Gln		176629337	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755959	0.96898	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032;ENST00000508029;ENST00000503056;ENST00000515735	T;T;T;T;D;T;T	0.92595	-0.52;-0.52;-0.52;-0.52;-3.07;-0.52;1.58	5.38	5.38	0.77491	PWWP (3);	0.000000	0.49305	D	0.000143	D	0.95730	0.8611	M	0.65677	2.01	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.95754	0.8794	10	0.72032	D	0.01	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	1542;1708;1811	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1542;1811;1542;1708;25;25;25	ENSP00000346111:R1542Q;ENSP00000395929:R1811Q;ENSP00000343209:R1542Q;ENSP00000354310:R1708Q;ENSP00000425120:R25Q;ENSP00000424024:R25Q;ENSP00000423048:R25Q	ENSP00000343209:R1542Q	R	+	2	0	NSD1	176629337	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.813000	0.99286	2.678000	0.91216	0.585000	0.79938	CGA		0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
IFIH1	64135	hgsc.bcm.edu	37	2	163137949	163137950	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:163137949_163137950delGA	ENST00000263642.2	-	7	1807_1808	c.1412_1413delTC	c.(1411-1413)ctcfs	p.L471fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	471	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTCTTTCTTGAGTCTATTGTT	0.416																																																	0			2																																								162846196	SO:0001589	frameshift_variant	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1412_1413delTC	2.37:g.163137949_163137950delGA	ENSP00000263642:p.Leu471fs		162846195	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Del	DEL	ENST00000263642.2	37	CCDS2217.1																																																																																				0.416	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
PRKRA	8575	hgsc.bcm.edu	37	2	179315735	179315736	+	Frame_Shift_Del	DEL	GC	GC	-	rs141354030|rs79769305	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr2:179315735_179315736delGC	ENST00000325748.4	-	1	222_223	c.22_23delGC	c.(22-24)gccfs	p.A8fs	DFNB59_ENST00000375129.4_5'Flank|PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000438687.3_5'UTR|DFNB59_ENST00000409117.3_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	8	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CGGGGCCTCGGCGCGGTGCCTG	0.757														1193	0.238219	0.1649	0.3545	5008	,	,		12129	0.123		0.339	False		,,,				2504	0.2699				Melanoma(200;68 3001 23825 48764)												0			2								658,2174		225,208,983						-1.9	0.8		dbSNP_134	7	2206,4138		751,704,1717	no	frameshift	PRKRA	NM_003690.4		976,912,2700	A1A1,A1R,RR		34.773,23.2345,31.2119				2864,6312				179023982	SO:0001589	frameshift_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.22_23delGC	2.37:g.179315737_179315738delGC	ENSP00000318176:p.Ala8fs		179023981	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Frame_Shift_Del	DEL	ENST00000325748.4	37	CCDS2279.1																																																																																				0.757	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
KIAA1211	57482	hgsc.bcm.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGGGAGCGGAGggag	p.304_305insRRERRE	KIAA1211_ENST00000541073.1_In_Frame_Ins_p.297_298insRRERRE|KIAA1211_ENST00000264229.6_In_Frame_Ins_p.304_305insRRERRE			Q6ZU35	K1211_HUMAN	KIAA1211	304	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733														1350	0.269569	0.2716	0.2781	5008	,	,		14300	0.0694		0.4076	False		,,,				2504	0.3252																0			4								903,2311		258,387,962						-10.2	0.0		dbSNP_130	6	2065,4451		612,841,1805	no	coding	KIAA1211	NM_020722.1		870,1228,2767	A1A1,A1R,RR		31.6912,28.0958,30.5036				2968,6762				56875334	SO:0001652	inframe_insertion	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57180576_57180577insGGAGCGGAGGGAGCGGAG	ENSP00000423366:p.Glu304_Arg305insArgArgGluArgArgGlu		56875333	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	CCDS43230.1																																																																																				0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
HLA-B	3106	hgsc.bcm.edu	37	6	31324601	31324602	+	Frame_Shift_Ins	INS	-	-	A	rs41562914|rs41541416|rs9281379	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:31324601_31324602insA	ENST00000412585.2	-	2	234_235	c.206_207insT	c.(205-207)gagfs	p.E69fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*30(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCGGCTCCTCTCTCGGACT	0.673									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				|||unknown(NO_COVERAGE)	34	0.00678914	0.0	0.0014	5008	,	,		7961	0.0188		0.0	False		,,,				2504	0.0143																2	Insertion - Frameshift(2)	large_intestine(2)	6								1399,160,2559		395,63,546,25,47,983						0.1	0.1		dbSNP_130	35	1793,477,5714		469,110,745,86,195,2387	no	codingComplex	HLA-B	NM_005514.6		864,173,1291,111,242,3370	A1A1,A1A2,A1R,A2A2,A2R,RR		28.4319,37.8582,31.6394				3192,637,8273				31432581	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.206_207insT	6.37:g.31324601_31324602insA	ENSP00000399168:p.Glu69fs		31432580	Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				0.673	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HLA-B	3106	hgsc.bcm.edu	37	6	31324604	31324604	+	Frame_Shift_Del	DEL	T	T	-	rs9266179|rs200186034	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr6:31324604delT	ENST00000412585.2	-	2	232	c.204delA	c.(202-204)agafs	p.R68fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	68	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCGGCTCCTCTCTCGGACTCG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Deletion - Frameshift(1)	large_intestine(1)	6								1993,2105		740,513,796	33.0	33.0	33.0			-6.4	0.0	6	dbSNP_118	34	3347,4625		1272,803,1911	no	frameshift	HLA-B	NM_005514.6		2012,1316,2707	A1A1,A1R,RR		41.9844,48.6335,44.2419			31324604	5340,6730	2015	3950	5965	31432583	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.204delA	6.37:g.31324604delT	ENSP00000399168:p.Arg68fs		31432583	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																				0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
CCDC183	84960	hgsc.bcm.edu	37	9	139693652	139693667	+	Frame_Shift_Del	DEL	CAGGACTGGGCTTTGG	CAGGACTGGGCTTTGG	-			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	CAGGACTGGGCTTTGG	CAGGACTGGGCTTTGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr9:139693652_139693667delCAGGACTGGGCTTTGG	ENST00000338005.6	+	2	204_219	c.169_184delCAGGACTGGGCTTTGG	c.(169-186)caggactgggctttggccfs	p.QDWALA57fs	RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Frame_Shift_Del_p.QDWALA113fs|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		57										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGCGGGGCCCAGGACTGGGCTTTGGCCAAGAAGGT	0.648																																																	0			9																																								138813488	SO:0001589	frameshift_variant	84960																														ENST00000338005.6:c.169_184delCAGGACTGGGCTTTGG	9.37:g.139693652_139693667delCAGGACTGGGCTTTGG	ENSP00000338013:p.Gln57fs		138813473	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Frame_Shift_Del	DEL	ENST00000338005.6	37	CCDS43906.1																																																																																				0.648	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		
RHOBTB1	9886	hgsc.bcm.edu	37	10	62648827	62648828	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr10:62648827_62648828insAC	ENST00000337910.5	-	6	935_936	c.598_599insGT	c.(598-600)tttfs	p.F200fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.F200fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	200	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TGCATTGTCAAACACATCCTTG	0.47																																																	0			10																																								62318834	SO:0001589	frameshift_variant	9886			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.597_598dupGT	10.37:g.62648830_62648831dupAC	ENSP00000338671:p.Phe200fs		62318833		Frame_Shift_Ins	INS	ENST00000337910.5	37	CCDS7261.1																																																																																				0.470	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1		
USH1C	10083	hgsc.bcm.edu	37	11	17552956	17552957	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	GG	GG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:17552956_17552957delGG	ENST00000318024.4	-	3	345_346	c.237_238delCC	c.(235-240)ccccggfs	p.R81fs	USH1C_ENST00000005226.7_Frame_Shift_Del_p.R81fs|USH1C_ENST00000527720.1_Frame_Shift_Del_p.R50fs|USH1C_ENST00000527020.1_Frame_Shift_Del_p.R81fs	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	81	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTGGAGCGCCGGGGGGTCAGCT	0.624																																																	0			11																																								17509533	SO:0001589	frameshift_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.237_238delCC	11.37:g.17552960_17552961delGG	ENSP00000317018:p.Arg81fs		17509532	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Frame_Shift_Del	DEL	ENST00000318024.4	37	CCDS31438.1																																																																																				0.624	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
C11orf57	55216	hgsc.bcm.edu	37	11	111953315	111953316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr11:111953315_111953316insA	ENST00000280352.9	+	6	1134_1135	c.498_499insA	c.(499-501)aaafs	p.K167fs	C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.K167fs|C11orf57_ENST00000532163.1_Frame_Shift_Ins_p.K139fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.K168fs|TIMM8B_ENST00000507614.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	167	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAGGTCACACAAAAAACAGAA	0.411																																																	0			11																																								111458526	SO:0001589	frameshift_variant	55216			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.504dupA	11.37:g.111953321_111953321dupA	ENSP00000339076:p.Lys167fs		111458525	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Ins	INS	ENST00000280352.9	37	CCDS41715.1																																																																																				0.411	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs|KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs		51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				0.599	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup		52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305800	39305814	+	In_Frame_Del	DEL	TGGATTCACAGCAAT	TGGATTCACAGCAAT	-	rs141998775|rs377168597		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	TGGATTCACAGCAAT	TGGATTCACAGCAAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:39305800_39305814delTGGATTCACAGCAAT	ENST00000343246.4	-	1	240_254	c.206_220delATTGCTGTGAATCCA	c.(205-222)tattgctgtgaatccagc>tgc	p.69_74YCCESS>C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	69	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cggcagcagctggattcacagcaataggggcggca	0.665																																																	0			17																																								36559340	SO:0001651	inframe_deletion	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.206_220delATTGCTGTGAATCCA	17.37:g.39305800_39305814delTGGATTCACAGCAAT	ENSP00000340546:p.Tyr69_Ser74delinsCys		36559326		In_Frame_Del	DEL	ENST00000343246.4	37	CCDS32650.1																																																																																				0.665	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
DSEL	92126	hgsc.bcm.edu	37	18	65178346	65178347	+	Frame_Shift_Ins	INS	-	-	A	rs372593790		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr18:65178346_65178347insA	ENST00000310045.7	-	2	5002_5003	c.3529_3530insT	c.(3529-3531)tacfs	p.Y1177fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATAGGGAAGGTAAAAAAGGTTT	0.356																																																	0			18																																								63329327	SO:0001589	frameshift_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3530dupT	18.37:g.65178352_65178352dupA	ENSP00000310565:p.Tyr1177fs		63329326	Q17RH1|Q6P5Z3	Frame_Shift_Ins	INS	ENST00000310045.7	37	CCDS11995.1																																																																																				0.356	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
GGN	199720	hgsc.bcm.edu	37	19	38877458	38877459	+	In_Frame_Ins	INS	-	-	GGC	rs548116774	byFrequency	TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:38877458_38877459insGGC	ENST00000334928.6	-	3	575_576	c.443_444insGCC	c.(442-444)ccc>ccGCCc	p.148_148P>PP	SPRED3_ENST00000586301.1_5'Flank|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	148	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				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)			ATAGTTGCCGGGGCGGCGGCGG	0.708														7	0.00139776	0.0	0.0029	5008	,	,		12198	0.0		0.005	False		,,,				2504	0.0																0			19								1,3567		0,1,1783						1.3	0.8			9	30,7216		4,22,3597	no	coding	GGN	NM_152657.3		4,23,5380	A1A1,A1R,RR		0.414,0.028,0.2867				31,10783				43569299	SO:0001652	inframe_insertion	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.441_443dupGCC	19.37:g.38877465_38877467dupGGC	ENSP00000334940:p.Pro148dup		43569298	Q7RTU6|Q86UU4|Q8NAA1	In_Frame_Ins	INS	ENST00000334928.6	37	CCDS12516.1																																																																																				0.708	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
TFPT	29844	hgsc.bcm.edu	37	19	54618051	54618051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr19:54618051delA	ENST00000391759.1	-	2	458	c.53delT	c.(52-54)ttcfs	p.F18fs	TFPT_ENST00000391757.1_Frame_Shift_Del_p.F18fs|PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391758.1_Frame_Shift_Del_p.F9fs	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	18					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGGCGCTGAGAACTCCTCAAA	0.627			T	TCF3	pre-B ALL																																			Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0			19											90.0	94.0	92.0					19																	54618051		2203	4300	6503	59309863	SO:0001589	frameshift_variant	29844			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.53delT	19.37:g.54618051delA	ENSP00000375639:p.Phe18fs		59309863		Frame_Shift_Del	DEL	ENST00000391759.1	37	CCDS12878.1																																																																																				0.627	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-AH-6644-01A-21D-1826-10	TCGA-AH-6644-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5aeb740f-44f1-4a21-9d60-53f5eea32995	c40489ed-f82a-486a-b4bf-e8dd9264e37a	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
