#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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AFF1	4299	hgsc.bcm.edu;ucsc.edu	37	4	88053496	88053496	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr4:88053496A>G	ENST00000307808.6	+	18	3646	c.3226A>G	c.(3226-3228)Act>Gct	p.T1076A	AFF1_ENST00000544085.1_Missense_Mutation_p.T714A|AFF1_ENST00000395146.4_Missense_Mutation_p.T1083A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1076					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GTATTCTCGTACTCTTAATAA	0.378																																																	0													104.0	100.0	101.0					4																	88053496		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3226A>G	4.37:g.88053496A>G	ENSP00000305689:p.Thr1076Ala	Somatic		WXS	SOLID	Phase_I	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725711	0.30593	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.65916	-0.18;-0.18;-0.18	5.41	0.0989	0.14500	.	0.358324	0.27323	N	0.019888	T	0.40909	0.1136	L	0.27975	0.815	0.36325	D	0.85851	B;B;B	0.22276	0.067;0.067;0.067	B;B;B	0.23419	0.046;0.046;0.046	T	0.12192	-1.0557	10	0.27785	T	0.31	-2.7575	4.8907	0.13726	0.6595:0.0:0.2152:0.1254	.	1083;1076;1076	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	A	1083;1076;714	ENSP00000378578:T1083A;ENSP00000305689:T1076A;ENSP00000440843:T714A	ENSP00000305689:T1076A	T	+	1	0	AFF1	88272520	0.919000	0.31177	0.029000	0.17559	0.282000	0.26991	2.208000	0.42797	-0.182000	0.10602	0.459000	0.35465	ACT		0.378	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935	
AKAP13	11214	hgsc.bcm.edu;ucsc.edu	37	15	86198698	86198698	+	Silent	SNP	C	C	T	rs369944508		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr15:86198698C>T	ENST00000394518.2	+	11	4520	c.4425C>T	c.(4423-4425)acC>acT	p.T1475T	AKAP13_ENST00000361243.2_Silent_p.T1475T|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1475					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTTCATCCACCGATGACACGG	0.498																																					Melanoma(94;603 1453 3280 32295 32951)												0								C	,	0,4404		0,0,2202	97.0	83.0	87.0		4425,4425	-11.8	0.4	15		87	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	1475/2818,1475/2814	86198698	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4425C>T	15.37:g.86198698C>T		Somatic		WXS	SOLID	Phase_I	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	CCDS32319.1																																																																																				0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200	
APPL1	26060	hgsc.bcm.edu	37	3	57291024	57291024	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:57291024G>C	ENST00000288266.3	+	14	1339	c.1192G>C	c.(1192-1194)Gtc>Ctc	p.V398L		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	398	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTGGAAGCTGTCACTCCTTC	0.413																																																	0													73.0	80.0	78.0					3																	57291024		2203	4300	6503	SO:0001583	missense	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1192G>C	3.37:g.57291024G>C	ENSP00000288266:p.Val398Leu	Somatic		WXS	SOLID	Phase_I	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091935	0.55968	.	.	ENSG00000157500	ENST00000288266	T	0.10288	2.89	5.74	3.97	0.46021	.	0.057235	0.64402	D	0.000001	T	0.28599	0.0708	M	0.71581	2.175	0.58432	D	0.999997	P;D	0.76494	0.942;0.999	P;D	0.68039	0.685;0.955	T	0.00942	-1.1506	10	0.41790	T	0.15	.	12.4324	0.55581	0.1355:0.0:0.8645:0.0	.	381;398	B4DQX8;Q9UKG1	.;DP13A_HUMAN	L	398	ENSP00000288266:V398L	ENSP00000288266:V398L	V	+	1	0	APPL1	57266064	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.890000	0.63178	0.793000	0.33875	-0.136000	0.14681	GTC		0.413	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2		NM_012096	
B4GALT6	9331	hgsc.bcm.edu;ucsc.edu	37	18	29218625	29218625	+	Silent	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr18:29218625C>T	ENST00000306851.5	-	5	866	c.570G>A	c.(568-570)gcG>gcA	p.A190A	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Silent_p.A151A	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	190					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGACATAAAACGCAAATTCCA	0.363																																																	0													90.0	91.0	90.0					18																	29218625		2203	4300	6503	SO:0001819	synonymous_variant	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.570G>A	18.37:g.29218625C>T		Somatic		WXS	SOLID	Phase_I	O60514|Q6NT09	Silent	SNP	ENST00000306851.5	37	CCDS11900.1																																																																																				0.363	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2		NM_004775	
BRDT	676	hgsc.bcm.edu;ucsc.edu	37	1	92442700	92442700	+	Missense_Mutation	SNP	T	T	C	rs192529642	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:92442700T>C	ENST00000362005.3	+	7	1137	c.719T>C	c.(718-720)gTg>gCg	p.V240A	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.V194A|BRDT_ENST00000370389.2_Missense_Mutation_p.V167A|BRDT_ENST00000402388.1_Missense_Mutation_p.V240A|BRDT_ENST00000399546.2_Missense_Mutation_p.V240A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	240					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAAAATCAGTGGCACTGCCA	0.358													T|||	4	0.000798722	0.0	0.0058	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.0																0													60.0	58.0	59.0					1																	92442700		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.719T>C	1.37:g.92442700T>C	ENSP00000354568:p.Val240Ala	Somatic		WXS	SOLID	Phase_I	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	T	0.004	-2.270946	0.00257	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.08282	3.43;3.45;3.43;3.49;3.11;3.43	5.34	-5.63	0.02474	.	1.294840	0.05209	N	0.506391	T	0.00468	0.0015	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.45175	-0.9279	10	0.02654	T	1	7.3475	4.6439	0.12563	0.0947:0.4401:0.2084:0.2568	.	194;194;244;240	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	A	240;167;240;240;194;240;240	ENSP00000354568:V240A;ENSP00000359416:V167A;ENSP00000387822:V240A;ENSP00000378038:V194A;ENSP00000404969:V240A;ENSP00000384051:V240A	ENSP00000354568:V240A	V	+	2	0	BRDT	92215288	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.026000	0.13599	-0.838000	0.04218	-1.119000	0.02030	GTG		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189	
BRE	9577	hgsc.bcm.edu	37	2	28117424	28117424	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr2:28117424A>G	ENST00000342045.2	+	3	142	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BRE_ENST00000379632.2_Start_Codon_SNP_p.M1V|BRE_ENST00000361704.2_Start_Codon_SNP_p.M1V|BRE_ENST00000344773.2_Start_Codon_SNP_p.M1V|BRE_ENST00000379624.1_Start_Codon_SNP_p.M1V|BRE_ENST00000603461.1_Intron	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCAAGTTAAAATGTCCCCAGA	0.438																																																	0													210.0	203.0	205.0					2																	28117424		2203	4300	6503	SO:0001582	initiator_codon_variant	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1A>G	2.37:g.28117424A>G	ENSP00000339371:p.Met1Val	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825947	0.50739	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	5.91	0.95273	.	0.049819	0.85682	D	0.000000	T	0.72581	0.3478	.	.	.	0.53688	D	0.999975	B;B;B;B	0.34399	0.452;0.038;0.452;0.031	P;B;P;B	0.47786	0.557;0.284;0.455;0.187	T	0.74231	-0.3732	8	0.66056	D	0.02	-28.7231	15.3309	0.74208	1.0:0.0:0.0:0.0	.	1;1;1;1	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	V	1	.	ENSP00000339371:M1V	M	+	1	0	BRE	27970928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.254000	0.74563	0.533000	0.62120	ATG		0.438	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			Missense_Mutation
RTP5	285093	hgsc.bcm.edu	37	2	242815059	242815059	+	Missense_Mutation	SNP	C	C	T	rs28368764	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr2:242815059C>T	ENST00000343216.3	+	2	1380	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V		NM_173821.2	NP_776182.2																					CTGGTCACCGCGGGTCACGAC	0.592													C|||	750	0.14976	0.0023	0.2349	5008	,	,		19342	0.4901		0.0179	False		,,,				2504	0.0736																0								C	VAL/ALA	53,4061		0,53,2004	50.0	57.0	55.0		1352	-1.8	0.0	2	dbSNP_125	55	114,8222		0,114,4054	yes	missense	C2orf85	NM_173821.2	64	0,167,6058	TT,TC,CC		1.3676,1.2883,1.3414	possibly-damaging	451/573	242815059	167,12283	2057	4168	6225	SO:0001583	missense	0																														ENST00000343216.3:c.1352C>T	2.37:g.242815059C>T	ENSP00000345374:p.Ala451Val	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	372	0.17032967032967034	0	0.0	68	0.1878453038674033	289	0.5052447552447552	15	0.01978891820580475	.	13.01	2.109133	0.37242	0.012883	0.013676	ENSG00000188011	ENST00000343216	T	0.25749	1.78	1.89	-1.84	0.07809	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.62365	0.991	P	0.47346	0.544	T	0.44283	-0.9338	8	0.42905	T	0.14	.	4.2076	0.10497	0.4499:0.3278:0.2223:0.0	rs28368764	451	Q14D33	CB085_HUMAN	V	451	ENSP00000345374:A451V	ENSP00000345374:A451V	A	+	2	0	C2orf85	242463732	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.343000	0.07791	-0.496000	0.06650	0.306000	0.20318	GCG		0.592	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			
CCDC120	90060	hgsc.bcm.edu	37	X	48919830	48919830	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chrX:48919830T>G	ENST00000376396.3	+	3	242	c.23T>G	c.(22-24)aTc>aGc	p.I8S	CCDC120_ENST00000496529.2_Missense_Mutation_p.I8S|CCDC120_ENST00000603986.1_Missense_Mutation_p.I43S|CCDC120_ENST00000597275.1_Missense_Mutation_p.I8S|CCDC120_ENST00000422185.2_Missense_Mutation_p.I8S|CCDC120_ENST00000536628.2_Intron	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	8										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GGTCAGCTGATCAGCTCTCCT	0.572																																																	0													148.0	94.0	113.0					X																	48919830		2203	4300	6503	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.23T>G	X.37:g.48919830T>G	ENSP00000365577:p.Ile8Ser	Somatic		WXS	SOLID	Phase_I	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301805	0.81136	.	.	ENSG00000147144	ENST00000376396;ENST00000422185	.	.	.	5.51	5.51	0.81932	.	0.098704	0.44688	D	0.000428	T	0.60753	0.2293	N	0.25245	0.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	T	0.60063	-0.7336	9	0.33141	T	0.24	-4.2591	12.1187	0.53880	0.0:0.0:0.0:1.0	.	43;8	B4DFC1;Q96HB5	.;CC120_HUMAN	S	8	.	ENSP00000365577:I8S	I	+	2	0	CCDC120	48806774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.449000	0.60034	1.847000	0.53656	0.356000	0.21956	ATC		0.572	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1		NM_033626	
CCDC87	55231	hgsc.bcm.edu	37	11	66359725	66359725	+	Silent	SNP	G	G	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr11:66359725G>A	ENST00000333861.3	-	1	829	c.762C>T	c.(760-762)tcC>tcT	p.S254S	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	254					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCGAGGGATGGACTTCAATT	0.502																																																	0													87.0	73.0	78.0					11																	66359725		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.762C>T	11.37:g.66359725G>A		Somatic		WXS	SOLID	Phase_I	Q8NE76	Silent	SNP	ENST00000333861.3	37	CCDS8145.1																																																																																				0.502	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219	
COG4	25839	hgsc.bcm.edu;ucsc.edu	37	16	70546246	70546246	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:70546246T>A	ENST00000323786.5	-	5	655	c.634A>T	c.(634-636)Aag>Tag	p.K212*	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Nonsense_Mutation_p.K208*	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	208					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCACCTTCCTTGGTGGCAATG	0.507																																																	0													94.0	81.0	85.0					16																	70546246		2198	4300	6498	SO:0001587	stop_gained	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.634A>T	16.37:g.70546246T>A	ENSP00000315775:p.Lys212*	Somatic		WXS	SOLID	Phase_I	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Nonsense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743250	0.69418	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	.	.	.	5.53	5.53	0.82687	.	0.141077	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9226	15.6678	0.77247	0.0:0.0:0.0:1.0	.	.	.	.	X	212;208;208;135	.	ENSP00000315775:K212X	K	-	1	0	COG4	69103747	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	3.783000	0.55409	2.108000	0.64289	0.533000	0.62120	AAG		0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			
CUL3	8452	hgsc.bcm.edu;ucsc.edu	37	2	225379414	225379414	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr2:225379414C>T	ENST00000264414.4	-	4	792	c.454G>A	c.(454-456)Gta>Ata	p.V152I	CUL3_ENST00000344951.4_Missense_Mutation_p.V86I|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.V128I|CUL3_ENST00000409096.1_Missense_Mutation_p.V128I	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	152					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCATAACGTACAACTTGATCT	0.363																																																	0													161.0	140.0	147.0					2																	225379414		2203	4300	6503	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.454G>A	2.37:g.225379414C>T	ENSP00000264414:p.Val152Ile	Somatic		WXS	SOLID	Phase_I	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149136|3.149136	0.57151|0.57151	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28233	.|0.204;0.017;0.017	.|B;B;B	.|0.27262	.|0.046;0.078;0.078	T|T	0.07366|0.07366	-1.0776|-1.0776	5|10	.|0.13470	.|T	.|0.59	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;130;152	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	Y|I	172|152;86;128;128	.|ENSP00000264414:V152I;ENSP00000343601:V86I;ENSP00000387200:V128I;ENSP00000386525:V128I	.|ENSP00000264414:V152I	C|V	-|-	2|1	0|0	CUL3|CUL3	225087658|225087658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.909000|4.909000	0.63314|0.63314	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TGT|GTA		0.363	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			
DNAH11	8701	hgsc.bcm.edu	37	7	21742417	21742417	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:21742417T>G	ENST00000409508.3	+	37	6301	c.6270T>G	c.(6268-6270)gaT>gaG	p.D2090E	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2097E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2097					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						GACCCGAAGATCAGGTACTGC	0.443									Kartagener syndrome																																								0													95.0	89.0	91.0					7																	21742417		1925	4149	6074	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.6270T>G	7.37:g.21742417T>G	ENSP00000475939:p.Asp2090Glu	Somatic		WXS	SOLID	Phase_I	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	10.80	1.452016	0.26074	.	.	ENSG00000105877	ENST00000328843	T	0.47177	0.85	5.33	-1.22	0.09494	.	0.633919	0.16408	N	0.215710	T	0.25680	0.0625	.	.	.	0.33315	D	0.566549	B	0.19331	0.035	B	0.13407	0.009	T	0.38672	-0.9650	9	0.09590	T	0.72	.	12.1759	0.54186	0.0:0.3589:0.0:0.6411	.	2097	Q96DT5	DYH11_HUMAN	E	2097	ENSP00000330671:D2097E	ENSP00000330671:D2097E	D	+	3	2	DNAH11	21708942	0.569000	0.26643	0.997000	0.53966	0.405000	0.30901	-0.265000	0.08644	-0.115000	0.11915	0.533000	0.62120	GAT		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
EPHA1	2041	hgsc.bcm.edu;ucsc.edu	37	7	143090819	143090819	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:143090819C>G	ENST00000275815.3	-	16	2727	c.2641G>C	c.(2641-2643)Gag>Cag	p.E881Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGCAGTTGCTCCAGATGTGCC	0.597																																																	0													86.0	76.0	79.0					7																	143090819		2203	4300	6503	SO:0001583	missense	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2641G>C	7.37:g.143090819C>G	ENSP00000275815:p.Glu881Gln	Somatic		WXS	SOLID	Phase_I	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476811	0.63849	.	.	ENSG00000146904	ENST00000275815	T	0.63096	-0.02	5.16	5.16	0.70880	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.332110	0.25674	N	0.029047	T	0.54382	0.1855	L	0.37630	1.12	0.45452	D	0.998423	B	0.17038	0.02	B	0.15484	0.013	T	0.54241	-0.8323	10	0.87932	D	0	.	15.5018	0.75705	0.0:0.8518:0.1482:0.0	.	881	P21709	EPHA1_HUMAN	Q	881	ENSP00000275815:E881Q	ENSP00000275815:E881Q	E	-	1	0	EPHA1	142800941	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.917000	0.63369	2.696000	0.92011	0.655000	0.94253	GAG		0.597	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			
FRRS1	391059	hgsc.bcm.edu;ucsc.edu	37	1	100214290	100214290	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:100214290A>C	ENST00000414213.1	-	3	636	c.35T>G	c.(34-36)aTa>aGa	p.I12R	FRRS1_ENST00000287474.5_Missense_Mutation_p.I12R			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	12						integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAACAGAAGTATGCAGGTACC	0.358																																																	0													130.0	114.0	119.0					1																	100214290		2203	4300	6503	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.35T>G	1.37:g.100214290A>C	ENSP00000393884:p.Ile12Arg	Somatic		WXS	SOLID	Phase_I	A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	A	10.47	1.358120	0.24598	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.75	3.44	0.39384	.	0.603818	0.16521	N	0.210791	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	P	0.49799	0.622	T	0.06215	-1.0839	9	0.72032	D	0.01	-8.0179	9.9335	0.41537	0.8604:0.0:0.1396:0.0	.	12	Q6ZNA5-2	.	R	12	.	ENSP00000287474:I12R	I	-	2	0	FRRS1	99986878	0.010000	0.17322	0.000000	0.03702	0.004000	0.04260	2.592000	0.46171	0.443000	0.26582	-0.400000	0.06385	ATA		0.358	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001013660	
GAPVD1	26130	hgsc.bcm.edu;ucsc.edu	37	9	128069788	128069788	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr9:128069788A>G	ENST00000495955.1	+	7	1503	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	GAPVD1_ENST00000297933.6_Missense_Mutation_p.T405A|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T405A|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T405A|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T405A|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T405A|GAPVD1_ENST00000394084.1_Missense_Mutation_p.T405A|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T405A|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T405A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	405					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATTGAGCAGAACTGTGGTTTA	0.443																																																	0													58.0	57.0	57.0					9																	128069788		2203	4300	6503	SO:0001583	missense	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1213A>G	9.37:g.128069788A>G	ENSP00000419063:p.Thr405Ala	Somatic		WXS	SOLID	Phase_I	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.799252|4.799252	0.90538|0.90538	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|D;D;D;D;D;D;D;D;D;D	.|0.82167	.|-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84266|0.84266	0.5434|0.5434	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D;D;B	.|0.61697	.|0.974;0.956;0.974;0.974;0.974;0.99;0.342	.|D;D;D;D;D;D;B	.|0.72982	.|0.969;0.931;0.953;0.953;0.969;0.979;0.066	D|D	0.85590|0.85590	0.1245|0.1245	5|10	.|0.48119	.|T	.|0.1	.|.	14.7549|14.7549	0.69557|0.69557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|405;405;405;405;405;405;405	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	.|.;GAPD1_HUMAN;.;.;.;.;.	S|A	235|405	.|ENSP00000377646:T405A;ENSP00000419767:T405A;ENSP00000377665:T405A;ENSP00000377664:T405A;ENSP00000265956:T405A;ENSP00000377645:T405A;ENSP00000419063:T405A;ENSP00000418747:T405A;ENSP00000297933:T405A;ENSP00000309582:T405A	.|ENSP00000265956:T405A	N|T	+|+	2|1	0|0	GAPVD1|GAPVD1	127109609|127109609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.062000|9.062000	0.93920|0.93920	2.139000|2.139000	0.66308|0.66308	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			
GOPC	57120	hgsc.bcm.edu;ucsc.edu	37	6	117900162	117900162	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr6:117900162T>A	ENST00000368498.2	-	2	426	c.351A>T	c.(349-351)aaA>aaT	p.K117N	GOPC_ENST00000535237.1_Missense_Mutation_p.K117N|GOPC_ENST00000052569.6_Missense_Mutation_p.K117N	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	117					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)	p.K117N(1)	GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CATGTACTTCTTTCTCCAAAA	0.398			O	ROS1	glioblastoma																																			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	1	Substitution - Missense(1)	ovary(1)											116.0	106.0	109.0					6																	117900162		2203	4299	6502	SO:0001583	missense	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.351A>T	6.37:g.117900162T>A	ENSP00000357484:p.Lys117Asn	Somatic		WXS	SOLID	Phase_I	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024507	0.54683	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.85013	-1.93;-1.93;2.25	5.71	3.24	0.37175	.	0.129537	0.64402	D	0.000001	T	0.68265	0.2982	L	0.50333	1.59	0.48901	D	0.999724	B;B	0.34290	0.447;0.319	B;B	0.32090	0.14;0.066	T	0.66496	-0.5909	10	0.52906	T	0.07	-19.6115	8.4922	0.33106	0.0:0.3063:0.0:0.6937	.	117;117	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	N	117	ENSP00000052569:K117N;ENSP00000357484:K117N;ENSP00000445690:K117N	ENSP00000052569:K117N	K	-	3	2	GOPC	118006855	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.572000	0.23684	0.400000	0.25396	0.477000	0.44152	AAA		0.398	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1		NM_020399	
HEATR5A	25938	hgsc.bcm.edu;ucsc.edu	37	14	31819067	31819067	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr14:31819067G>A	ENST00000389961.3	-	17	2617	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S873L|HEATR5A_ENST00000543095.2_Missense_Mutation_p.S879L|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S586L|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S879L			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	873										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTAGCCCATGACTCTGCAGC	0.418																																																	0													54.0	53.0	53.0					14																	31819067		1887	4120	6007	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2618C>T	14.37:g.31819067G>A	ENSP00000374611:p.Ser873Leu	Somatic		WXS	SOLID	Phase_I	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.646803|2.646803	0.47258|0.47258	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08;-0.08	5.48|5.48	4.54|4.54	0.55810|0.55810	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.410133	.|0.25997	.|N	.|0.026977	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.34521|0.34521	1.04|1.04	0.28370|0.28370	N|N	0.920037|0.920037	.|B;B;B	.|0.23650	.|0.089;0.032;0.015	.|B;B;B	.|0.25405	.|0.046;0.038;0.06	T|T	0.58244|0.58244	-0.7670|-0.7670	5|10	.|0.87932	.|D	.|0	.|.	18.5929|18.5929	0.91220|0.91220	0.0:0.16:0.8399:0.0|0.0:0.16:0.8399:0.0	.|.	.|879;873;873	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	Y|L	507|873;873;586;879;879	.|ENSP00000374611:S873L;ENSP00000405407:S873L;ENSP00000408681:S586L;ENSP00000437968:S879L;ENSP00000384646:S879L	.|ENSP00000374611:S873L	H|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30888818|30888818	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.810000|0.810000	0.45777|0.45777	2.594000|2.594000	0.46189|0.46189	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015473	
IL9	3578	hgsc.bcm.edu	37	5	135228122	135228122	+	Silent	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:135228122A>G	ENST00000274520.1	-	5	403	c.393T>C	c.(391-393)atT>atC	p.I131I		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	131					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.I131I(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTCTGGAAAATTTCCAGAA	0.368																																																	1	Substitution - coding silent(1)	large_intestine(1)											66.0	73.0	70.0					5																	135228122		2203	4300	6503	SO:0001819	synonymous_variant	3578			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.393T>C	5.37:g.135228122A>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000274520.1	37	CCDS4189.1																																																																																				0.368	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1		NM_000590	
IPO9	55705	hgsc.bcm.edu	37	1	201827588	201827588	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:201827588A>G	ENST00000361565.4	+	12	1304	c.1235A>G	c.(1234-1236)gAt>gGt	p.D412G		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	412					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGGCCACAGATTTCCAGAAT	0.443																																																	0													74.0	85.0	81.0					1																	201827588		2202	4300	6502	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1235A>G	1.37:g.201827588A>G	ENSP00000354742:p.Asp412Gly	Somatic		WXS	SOLID	Phase_I	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564532	0.27915	.	.	ENSG00000198700	ENST00000361565	T	0.65549	-0.16	5.54	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.142348	0.64402	D	0.000005	T	0.46210	0.1381	L	0.29908	0.895	0.53688	D	0.999979	B	0.15930	0.015	B	0.16289	0.015	T	0.26710	-1.0095	10	0.18710	T	0.47	-1.4069	9.6024	0.39612	0.9168:0.0:0.0832:0.0	.	412	Q96P70	IPO9_HUMAN	G	412	ENSP00000354742:D412G	ENSP00000354742:D412G	D	+	2	0	IPO9	200094211	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	8.763000	0.91715	0.924000	0.37069	-0.385000	0.06624	GAT		0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1		NM_018085	
ITPR1	3708	hgsc.bcm.edu;ucsc.edu	37	3	4730230	4730230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:4730230C>T	ENST00000443694.2	+	28	3709	c.3709C>T	c.(3709-3711)Cag>Tag	p.Q1237*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q1243*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q1228*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q1243*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q1252*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.Q1237*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1252					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAATTTTTGCAGAATTTCTG	0.468																																																	0													120.0	118.0	119.0					3																	4730230		1904	4124	6028	SO:0001587	stop_gained	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3709C>T	3.37:g.4730230C>T	ENSP00000401671:p.Gln1237*	Somatic		WXS	SOLID	Phase_I	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	44	10.686949	0.99450	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;1237;1252;1243;1243;1228;1237	.	ENSP00000306253:Q1237X	Q	+	1	0	ITPR1	4705230	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.673000	0.83973	2.518000	0.84900	0.655000	0.94253	CAG		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222	
KDM4B	23030	hgsc.bcm.edu	37	19	5077475	5077475	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:5077475C>A	ENST00000159111.4	+	8	992	c.774C>A	c.(772-774)ttC>ttA	p.F258L	KDM4B_ENST00000536461.1_Missense_Mutation_p.F258L|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.F258L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	258	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGATCCCCTTCAGCCGGGTGC	0.622																																																	0													86.0	86.0	86.0					19																	5077475		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.774C>A	19.37:g.5077475C>A	ENSP00000159111:p.Phe258Leu	Somatic		WXS	SOLID	Phase_I	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582409	0.86748	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71222	-0.55;-0.55;-0.55	4.52	3.23	0.37069	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.72894	2.215	0.54753	D	0.999987	P;D;P	0.61697	0.782;0.99;0.818	B;P;P	0.62184	0.179;0.899;0.463	T	0.77547	-0.2547	10	0.66056	D	0.02	-36.0788	5.4235	0.16413	0.0:0.6613:0.0:0.3387	.	258;258;258	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	L	258	ENSP00000159111:F258L;ENSP00000371178:F258L;ENSP00000440495:F258L	ENSP00000159111:F258L	F	+	3	2	KDM4B	5028475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.700000	0.47085	2.066000	0.61787	0.462000	0.41574	TTC		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1		NM_015015	
KIF16B	55614	hgsc.bcm.edu	37	20	16359582	16359582	+	Missense_Mutation	SNP	T	T	C	rs34336583	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr20:16359582T>C	ENST00000354981.2	-	19	3222	c.3065A>G	c.(3064-3066)cAc>cGc	p.H1022R	KIF16B_ENST00000408042.1_Missense_Mutation_p.H1022R|KIF16B_ENST00000355755.3_Missense_Mutation_p.H1022R|KIF16B_ENST00000378003.2_Missense_Mutation_p.H248R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1022	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CAGGGTGGAGTGCCTCTGCAG	0.592													C|||	25	0.00499201	0.0166	0.0043	5008	,	,		17825	0.0		0.0	False		,,,				2504	0.0																0								C	ARG/HIS,ARG/HIS,ARG/HIS	39,4367	822.7+/-416.5	0,39,2164	79.0	82.0	81.0		3065,3065,3065	3.3	0.0	20	dbSNP_126	81	0,8600		0,0,4300	yes	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,39,6464	CC,CT,TT		0.0,0.8852,0.2999	benign,benign,benign	1022/1267,1022/1393,1022/1318	16359582	39,12967	2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3065A>G	20.37:g.16359582T>C	ENSP00000347076:p.His1022Arg	Somatic		WXS	SOLID	Phase_I	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	14	0.00641025641025641	11	0.022357723577235773	3	0.008287292817679558	0	0.0	0	0.0	C	0.005	-2.144049	0.00332	0.008852	0.0	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.68479	-0.33;-0.33;2.65;-0.29	5.29	3.31	0.37934	.	0.389046	0.32218	N	0.006414	T	0.14960	0.0361	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.21621	-1.0240	10	0.07325	T	0.83	.	5.4554	0.16588	0.0:0.5701:0.1361:0.2937	rs34336583	1022;1022;1022;1022	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	1022;1022;866;248;1022	ENSP00000347076:H1022R;ENSP00000347995:H1022R;ENSP00000367242:H248R;ENSP00000384164:H1022R	ENSP00000347076:H1022R	H	-	2	0	KIF16B	16307582	0.772000	0.28567	0.002000	0.10522	0.157000	0.22087	0.836000	0.27545	0.315000	0.23110	-0.754000	0.03487	CAC		0.592	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683	
KIF20B	9585	hgsc.bcm.edu	37	10	91469727	91469727	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr10:91469727G>C	ENST00000371728.3	+	5	460	c.395G>C	c.(394-396)tGc>tCc	p.C132S	KIF20B_ENST00000260753.4_Missense_Mutation_p.C132S|KIF20B_ENST00000394289.2_Missense_Mutation_p.C132S|KIF20B_ENST00000416354.1_Missense_Mutation_p.C132S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTCAGGGTTGCATTATGCAA	0.333																																																	0													66.0	74.0	71.0					10																	91469727		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.395G>C	10.37:g.91469727G>C	ENSP00000360793:p.Cys132Ser	Somatic		WXS	SOLID	Phase_I	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	12.32	1.901186	0.33535	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;2.37	5.66	5.66	0.87406	Kinesin, motor domain (4);	0.122674	0.37483	N	0.002073	T	0.47728	0.1461	N	0.03891	-0.335	0.42926	D	0.994303	B;B	0.20887	0.049;0.019	B;B	0.22880	0.042;0.033	T	0.47548	-0.9109	10	0.18710	T	0.47	-3.9143	14.2319	0.65898	0.0:0.2669:0.7331:0.0	.	132;132	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	132	ENSP00000260753:C132S;ENSP00000411545:C132S;ENSP00000377830:C132S;ENSP00000360793:C132S;ENSP00000390946:C132S	ENSP00000260753:C132S	C	+	2	0	KIF20B	91459707	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.219000	0.72231	2.653000	0.90120	0.655000	0.94253	TGC		0.333	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195	
KIF2C	11004	hgsc.bcm.edu	37	1	45205617	45205617	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:45205617T>G	ENST00000372224.4	+	1	126	c.13T>G	c.(13-15)Tcg>Gcg	p.S5A	KIF2C_ENST00000372218.4_Missense_Mutation_p.S5A|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	5	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GGCCATGGACTCGTCGCTTCA	0.562																																																	0													321.0	332.0	328.0					1																	45205617		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.13T>G	1.37:g.45205617T>G	ENSP00000361298:p.Ser5Ala	Somatic		WXS	SOLID	Phase_I	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	t	7.573	0.667111	0.14710	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218	T;T;T	0.74209	1.18;-0.82;-0.67	5.47	3.05	0.35203	.	0.572464	0.19437	N	0.114295	T	0.42404	0.1201	N	0.02539	-0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41752	-0.9491	10	0.02654	T	1	.	9.3348	0.38043	0.0:0.0:0.3829:0.6171	.	5;5	B7Z6Q6;Q99661	.;KIF2C_HUMAN	A	5	ENSP00000410346:S5A;ENSP00000361298:S5A;ENSP00000361292:S5A	ENSP00000361292:S5A	S	+	1	0	KIF2C	44978204	0.998000	0.40836	0.998000	0.56505	0.865000	0.49528	1.109000	0.31135	1.062000	0.40625	0.454000	0.30748	TCG		0.562	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1		NM_006845	
KLK13	26085	hgsc.bcm.edu	37	19	51561875	51561875	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:51561875A>G	ENST00000595793.1	-	4	607	c.565T>C	c.(565-567)Tgt>Cgt	p.C189R	KLK13_ENST00000595547.1_Missense_Mutation_p.C116R|KLK13_ENST00000335422.3_Missense_Mutation_p.C37R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	189	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ACTTGACGACACTCCTCATCT	0.512																																																	0													232.0	208.0	216.0					19																	51561875		2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.565T>C	19.37:g.51561875A>G	ENSP00000470555:p.Cys189Arg	Somatic		WXS	SOLID	Phase_I	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574383	0.28092	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.96967	-4.19	4.8	3.79	0.43588	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.51477	D	0.000081	D	0.98626	0.9540	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98054	1.0389	10	0.87932	D	0	.	8.7477	0.34596	0.9094:0.0:0.0906:0.0	.	37;116;189	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	R	189;37	ENSP00000334079:C37R	ENSP00000156476:C189R	C	-	1	0	KLK13	56253687	1.000000	0.71417	0.990000	0.47175	0.044000	0.14063	5.293000	0.65680	0.976000	0.38417	-0.250000	0.11733	TGT		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2		NM_015596	
LAIR2	3904	hgsc.bcm.edu	37	19	55020248	55020248	+	Missense_Mutation	SNP	G	G	C	rs12949		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:55020248G>C	ENST00000301202.2	+	4	490	c.368G>C	c.(367-369)aGc>aCc	p.S123T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	123						extracellular region (GO:0005576)		p.S123T(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TTTACAGAAAGCTCTGGAGGC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											54.0	63.0	60.0					19																	55020248		2127	4276	6403	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.368G>C	19.37:g.55020248G>C	ENSP00000301202:p.Ser123Thr	Somatic		WXS	SOLID	Phase_I	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	97	0.044413919413919416	28	0.056910569105691054	13	0.03591160220994475	7	0.012237762237762238	49	0.06464379947229551	C	0.004	-2.301275	0.00243	.	.	ENSG00000167618	ENST00000301202	T	0.00523	6.83	1.4	-1.19	0.09585	.	.	.	.	.	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	9	0.14252	T	0.57	.	0.4992	0.00576	0.2475:0.3218:0.2448:0.1859	rs3177589;rs17343215	123	Q6ISS4	LAIR2_HUMAN	T	123	ENSP00000301202:S123T	ENSP00000301202:S123T	S	+	2	0	LAIR2	59712060	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.594000	0.02094	-0.745000	0.04772	-0.980000	0.02579	AGC		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			
LMNB1	4001	hgsc.bcm.edu;ucsc.edu	37	5	126154654	126154654	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:126154654T>C	ENST00000261366.5	+	6	1341	c.980T>C	c.(979-981)tTg>tCg	p.L327S	LMNB1_ENST00000395354.1_Missense_Mutation_p.L327S|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	327	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TTAGAGGACTTGCTTGCTAAA	0.408																																																	0													108.0	110.0	109.0					5																	126154654		2203	4300	6503	SO:0001583	missense	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.980T>C	5.37:g.126154654T>C	ENSP00000261366:p.Leu327Ser	Somatic		WXS	SOLID	Phase_I	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	T	5.146	0.212580	0.09757	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.88124	-2.34;-2.34	5.74	4.56	0.56223	Filament (1);	0.787115	0.11593	N	0.548468	T	0.72244	0.3436	N	0.05487	-0.04	0.22142	N	0.999339	B	0.10296	0.003	B	0.16722	0.016	T	0.56792	-0.7920	10	0.10636	T	0.68	.	8.2644	0.31804	0.0:0.0662:0.2517:0.6821	.	327	P20700	LMNB1_HUMAN	S	327	ENSP00000261366:L327S;ENSP00000378761:L327S	ENSP00000261366:L327S	L	+	2	0	LMNB1	126182553	0.564000	0.26602	0.999000	0.59377	0.928000	0.56348	1.106000	0.31098	1.085000	0.41206	0.460000	0.39030	TTG		0.408	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2		NM_005573	
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40714842	40714844	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr12:40714842_40714844delTGA	ENST00000298910.7	+	35	5080_5082	c.5022_5024delTGA	c.(5020-5025)tctgac>tcc	p.D1675del		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1675					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAGTTTGTCTGACCACAGGCCT	0.384																																																	0																																										SO:0001651	inframe_deletion	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5022_5024delTGA	12.37:g.40714842_40714844delTGA	ENSP00000298910:p.Asp1675del	Somatic		WXS	SOLID	Phase_I	A6NJU2|Q6ZS50|Q8NCX9	In_Frame_Del	DEL	ENST00000298910.7	37	CCDS31774.1																																																																																				0.384	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513	
MKS1	54903	hgsc.bcm.edu;ucsc.edu	37	17	56283700	56283700	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:56283700C>G	ENST00000393119.2	-	17	1606	c.1532G>C	c.(1531-1533)aGt>aCt	p.S511T	MKS1_ENST00000546108.1_Missense_Mutation_p.S308T|MKS1_ENST00000313863.6_Missense_Mutation_p.V439L|MKS1_ENST00000537529.2_Missense_Mutation_p.S501T|MKS1_ENST00000337050.7_Intron	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	511					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCAACACACTCCGCATCCT	0.607																																																	0													121.0	127.0	125.0					17																	56283700		2037	4179	6216	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1532G>C	17.37:g.56283700C>G	ENSP00000376827:p.Ser511Thr	Somatic		WXS	SOLID	Phase_I	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.718|4.718	0.133561|0.133561	0.09032|0.09032	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393119;ENST00000546108	.|T;T;T	.|0.74526	.|-0.37;-0.35;-0.85	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.348627	.|0.38381	.|N	.|0.001712	T|T	0.59905|0.59905	0.2228|0.2228	N|N	0.20530|0.20530	0.585|0.585	0.45261|0.45261	D|D	0.998269|0.998269	.|B	.|0.06786	.|0.001	.|B	.|0.10450	.|0.005	T|T	0.55192|0.55192	-0.8179|-0.8179	5|10	.|0.11794	.|T	.|0.64	-23.1717|-23.1717	16.9037|16.9037	0.86120|0.86120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|511	.|Q9NXB0	.|MKS1_HUMAN	D|T	439|501;511;308	.|ENSP00000442096:S501T;ENSP00000376827:S511T;ENSP00000443012:S308T	.|ENSP00000376827:S511T	E|S	-|-	3|2	2|0	MKS1|MKS1	53638699|53638699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.472000|0.472000	0.32918|0.32918	2.445000|2.445000	0.44899|0.44899	2.556000|2.556000	0.86216|0.86216	0.555000|0.555000	0.69702|0.69702	GAG|AGT		0.607	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2		NM_017777	
MRGPRF	116535	hgsc.bcm.edu	37	11	68777323	68777323	+	Splice_Site	SNP	T	T	C	rs11544721	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr11:68777323T>C	ENST00000309099.6	-	2	429	c.47A>G	c.(46-48)aAg>aGg	p.K16R	RP11-554A11.6_ENST00000569428.1_RNA|MRGPRF_ENST00000320913.6_Missense_Mutation_p.K16R|RP11-554A11.6_ENST00000569432.1_RNA|RP11-554A11.6_ENST00000538407.2_RNA|MRGPRF_ENST00000441623.1_Splice_Site_p.K16R	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	16			K -> R (in dbSNP:rs11544721). {ECO:0000269|PubMed:16303743}.			extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCACTTACCTTGTTCCTGTT	0.682													T|||	1534	0.30631	0.3563	0.2594	5008	,	,		16522	0.2887		0.3012	False		,,,				2504	0.2955																0								T	ARG/LYS,ARG/LYS	1443,2957	465.5+/-354.2	246,951,1003	77.0	69.0	72.0		47,47	3.5	1.0	11	dbSNP_120	72	2492,6096	406.4+/-348.8	370,1752,2172	yes	missense-near-splice,missense-near-splice	MRGPRF	NM_001098515.1,NM_145015.4	26,26	616,2703,3175	CC,CT,TT		29.0172,32.7955,30.2972	benign,benign	16/344,16/344	68777323	3935,9053	2200	4294	6494	SO:0001630	splice_region_variant	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.48+1A>G	11.37:g.68777323T>C		Somatic		WXS	SOLID	Phase_I	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	671	0.30723443223443225	191	0.3882113821138211	94	0.2596685082872928	174	0.3041958041958042	212	0.2796833773087071	T	10.04	1.242268	0.22796	0.327955	0.290172	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543;ENST00000320913	T;T;T	0.55930	3.35;3.35;0.49	3.47	3.47	0.39725	.	0.000000	0.40469	N	0.001100	T	0.00012	0.0000	N	0.19112	0.55	0.09310	P	1.0	B	0.27823	0.19	B	0.24701	0.055	T	0.41963	-0.9479	9	0.16420	T	0.52	-17.2217	8.5952	0.33712	0.0:0.0:0.0:1.0	rs11544721;rs12361947	16	Q96AM1	MRGRF_HUMAN	R	16	ENSP00000403660:K16R;ENSP00000309782:K16R;ENSP00000323414:K16R	ENSP00000309782:K16R	K	-	2	0	MRGPRF	68533899	1.000000	0.71417	0.996000	0.52242	0.363000	0.29612	1.181000	0.32017	1.597000	0.50072	0.374000	0.22700	AAG		0.682	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1		NM_145015	Missense_Mutation
NSUN4	387338	hgsc.bcm.edu	37	1	46806550	46806550	+	Missense_Mutation	SNP	C	C	T	rs41293277	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:46806550C>T	ENST00000474844.1	+	1	702	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	NSUN4_ENST00000537428.1_5'Flank|NSUN4_ENST00000536062.1_5'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	18					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCGTGTGGACCTCGCGACGGT	0.602											OREG0013456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	637	0.127196	0.115	0.147	5008	,	,		15523	0.0179		0.2773	False		,,,				2504	0.0879																0								T	PHE/LEU	604,3800	755.8+/-412.6	55,494,1653	29.0	30.0	30.0		52	2.9	0.1	1	dbSNP_127	30	2510,6088	680.6+/-403.7	367,1776,2156	yes	missense	NSUN4	NM_199044.2	22	422,2270,3809	TT,TC,CC		29.1928,13.7148,23.9502	benign	18/385	46806550	3114,9888	2202	4299	6501	SO:0001583	missense	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.52C>T	1.37:g.46806550C>T	ENSP00000419740:p.Leu18Phe	Somatic	942	WXS	SOLID	Phase_I	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	CCDS534.1	338	0.15476190476190477	59	0.11991869918699187	60	0.16574585635359115	11	0.019230769230769232	208	0.27440633245382584	T	5.578	0.291507	0.10567	0.137148	0.291928	ENSG00000117481	ENST00000474844	T	0.15017	2.46	4.09	2.93	0.34026	.	0.748109	0.13086	N	0.414936	T	0.00012	0.0000	N	0.08118	0	0.51767	P	6.700000000003925E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	9	0.08179	T	0.78	-0.8149	4.8239	0.13407	0.0:0.4319:0.0:0.5681	rs41293277	18	Q96CB9	NSUN4_HUMAN	F	18	ENSP00000419740:L18F	ENSP00000419740:L18F	L	+	1	0	NSUN4	46579137	0.005000	0.15991	0.105000	0.21289	0.096000	0.18686	0.284000	0.18864	0.630000	0.30394	-0.490000	0.04691	CTC		0.602	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1		NM_199044	
OR2T12	127064	hgsc.bcm.edu	37	1	248458736	248458736	+	Missense_Mutation	SNP	A	A	G	rs28409263	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr1:248458736A>G	ENST00000317996.1	-	1	144	c.145T>C	c.(145-147)Tgg>Cgg	p.W49R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CGGTGGTCCCAGTGAATCAGG	0.537													-|||	1138	0.227236	0.0567	0.2522	5008	,	,		14030	0.3601		0.1769	False		,,,				2504	0.3548																0								G	ARG/TRP	279,4127	793.8+/-415.2	21,237,1945	96.0	80.0	85.0		145	-3.1	0.0	1	dbSNP_125	85	1221,7379	745.6+/-407.3	124,973,3203	no	missense	OR2T12	NM_001004692.1	101	145,1210,5148	GG,GA,AA		14.1977,6.3323,11.5331	benign	49/321	248458736	1500,11506	2203	4300	6503	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.145T>C	1.37:g.248458736A>G	ENSP00000324583:p.Trp49Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	395	0.18086080586080586	37	0.07520325203252033	63	0.17403314917127072	179	0.3129370629370629	116	0.15303430079155672	g	1.445	-0.566654	0.03910	0.063323	0.141977	ENSG00000177201	ENST00000317996	T	0.02890	4.12	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	3.014640	0.01683	N	0.026254	T	0.00012	0.0000	N	0.03177	-0.4	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.37606	T	0.19	.	0.2054	0.00150	0.3304:0.2518:0.1575:0.2603	rs28409263	49	Q8NG77	O2T12_HUMAN	R	49	ENSP00000324583:W49R	ENSP00000324583:W49R	W	-	1	0	OR2T12	246525359	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-3.039000	0.00633	-1.597000	0.01609	-1.352000	0.01234	TGG		0.537	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692	
PIK3R5	23533	hgsc.bcm.edu	37	17	8791992	8791992	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:8791992A>C	ENST00000447110.1	-	10	1236	c.1112T>G	c.(1111-1113)cTc>cGc	p.L371R	PIK3R5_ENST00000584803.1_Missense_Mutation_p.L371R|PIK3R5_ENST00000581552.1_Missense_Mutation_p.L371R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	371					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATGGCGCGAGAGGGCCGGCCC	0.637																																					NSCLC(18;589 615 7696 20311 50332)												0													65.0	69.0	68.0					17																	8791992		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1112T>G	17.37:g.8791992A>C	ENSP00000392812:p.Leu371Arg	Somatic		WXS	SOLID	Phase_I	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961859	0.18583	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.82803	-1.65	5.51	5.51	0.81932	.	0.403824	0.25935	N	0.027350	D	0.83376	0.5241	N	0.24115	0.695	0.39711	D	0.971322	D	0.54397	0.966	P	0.58331	0.837	D	0.86648	0.1896	10	0.87932	D	0	-31.2461	15.2751	0.73737	1.0:0.0:0.0:0.0	.	371	Q8WYR1	PI3R5_HUMAN	R	371	ENSP00000392812:L371R	ENSP00000269300:L371R	L	-	2	0	PIK3R5	8732717	0.981000	0.34729	0.344000	0.25628	0.259000	0.26198	5.561000	0.67339	2.096000	0.63516	0.528000	0.53228	CTC		0.637	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308	
PRKCA	5578	hgsc.bcm.edu	37	17	64800059	64800059	+	Silent	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:64800059T>C	ENST00000413366.3	+	17	1949	c.1923T>C	c.(1921-1923)gaT>gaC	p.D641D		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	641	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CACCACCTGATCAGCTGGTTA	0.458																																																	0													158.0	131.0	140.0					17																	64800059		2203	4300	6503	SO:0001819	synonymous_variant	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1923T>C	17.37:g.64800059T>C		Somatic		WXS	SOLID	Phase_I	B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	CCDS11664.1																																																																																				0.458	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			
PRX	57716	hgsc.bcm.edu	37	19	40902439	40902439	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:40902439T>C	ENST00000324001.7	-	7	2090	c.1820A>G	c.(1819-1821)aAg>aGg	p.K607R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	607	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCGGGCACCTTCGGGAGTTG	0.532																																																	0													103.0	115.0	111.0					19																	40902439		2203	4300	6503	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1820A>G	19.37:g.40902439T>C	ENSP00000326018:p.Lys607Arg	Somatic		WXS	SOLID	Phase_I	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326141	0.41197	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02812	4.15	4.77	4.77	0.60923	.	.	.	.	.	T	0.10208	0.0250	L	0.57536	1.79	0.58432	D	0.999998	D	0.64830	0.994	P	0.61397	0.888	T	0.02282	-1.1183	9	0.49607	T	0.09	-18.8445	13.4562	0.61199	0.0:0.0:0.0:1.0	.	607	Q9BXM0	PRAX_HUMAN	R	607	ENSP00000326018:K607R	ENSP00000326018:K607R	K	-	2	0	PRX	45594279	.	.	0.990000	0.47175	0.210000	0.24377	.	.	2.007000	0.58848	0.529000	0.55759	AAG		0.532	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956	
RAI14	26064	hgsc.bcm.edu;ucsc.edu	37	5	34824236	34824236	+	Silent	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr5:34824236G>C	ENST00000265109.3	+	15	2576	c.2289G>C	c.(2287-2289)gtG>gtC	p.V763V	RAI14_ENST00000428746.2_Silent_p.V763V|RAI14_ENST00000503673.1_Silent_p.V763V|RAI14_ENST00000515799.1_Silent_p.V766V|RAI14_ENST00000397449.1_Silent_p.V756V|RAI14_ENST00000506376.1_Silent_p.V755V|RAI14_ENST00000512629.1_Silent_p.V734V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	763						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAAGGAAGTGGAAGTAGCAA	0.428																																																	0													85.0	84.0	84.0					5																	34824236		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2289G>C	5.37:g.34824236G>C		Somatic		WXS	SOLID	Phase_I	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.428	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577	
RUNX2	860	hgsc.bcm.edu	37	6	45514873	45514873	+	Missense_Mutation	SNP	C	C	A	rs144852234		TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr6:45514873C>A	ENST00000371438.1	+	8	1755	c.1397C>A	c.(1396-1398)cCt>cAt	p.P466H	RUNX2_ENST00000371432.3_Missense_Mutation_p.P430H|RUNX2_ENST00000465038.2_Missense_Mutation_p.P466H|RUNX2_ENST00000359524.5_Missense_Mutation_p.P452H|RUNX2_ENST00000352853.5_Missense_Mutation_p.P534H|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.P512H|RUNX2_ENST00000371436.6_Missense_Mutation_p.P444H	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	466	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P466L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACCGGTCTCCTTCCAGAATG	0.532																																																	1	Substitution - Missense(1)	skin(1)											92.0	84.0	87.0					6																	45514873		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1397C>A	6.37:g.45514873C>A	ENSP00000360493:p.Pro466His	Somatic		WXS	SOLID	Phase_I	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895753	0.72639	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.72004	-0.4421	10	0.87932	D	0	-6.17	20.3627	0.98863	0.0:1.0:0.0:0.0	.	512;466;452	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	H	466;534;512;466;444;452;430	ENSP00000420707:P466H;ENSP00000319087:P534H;ENSP00000446290:P512H;ENSP00000360493:P466H;ENSP00000360491:P444H;ENSP00000352514:P452H;ENSP00000360486:P430H	ENSP00000319087:P534H	P	+	2	0	RUNX2	45622851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	CCT		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2		NM_004348	
SMARCC1	6599	hgsc.bcm.edu;ucsc.edu	37	3	47712153	47712153	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr3:47712153G>C	ENST00000254480.5	-	19	2013	c.1894C>G	c.(1894-1896)Ctg>Gtg	p.L632V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	632	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTACCTCCAGGAGTAGAAGG	0.383																																																	0													125.0	108.0	114.0					3																	47712153		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1894C>G	3.37:g.47712153G>C	ENSP00000254480:p.Leu632Val	Somatic		WXS	SOLID	Phase_I	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134420	0.56828	.	.	ENSG00000173473	ENST00000254480	T	0.37915	1.17	5.58	-1.21	0.09524	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000001	T	0.54498	0.1862	M	0.76838	2.35	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.56517	-0.7966	10	0.87932	D	0	-14.351	10.0569	0.42250	0.5931:0.0:0.4068:0.0	.	632	Q92922	SMRC1_HUMAN	V	632	ENSP00000254480:L632V	ENSP00000254480:L632V	L	-	1	2	SMARCC1	47687157	0.088000	0.21588	0.419000	0.26584	0.840000	0.47671	0.425000	0.21346	-0.132000	0.11557	-0.137000	0.14449	CTG		0.383	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			
SOHLH2	54937	hgsc.bcm.edu;ucsc.edu	37	13	36748941	36748941	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr13:36748941T>C	ENST00000379881.3	-	7	795	c.707A>G	c.(706-708)aAt>aGt	p.N236S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.N313S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.N313S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	236	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCCGCATCATTCTTTCTCCC	0.418																																																	0													88.0	85.0	86.0					13																	36748941		2203	4300	6503	SO:0001583	missense	54937			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.707A>G	13.37:g.36748941T>C	ENSP00000369210:p.Asn236Ser	Somatic		WXS	SOLID	Phase_I	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398430	0.25205	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.97941	-4.62;-4.62;-4.62	5.11	2.71	0.32032	Helix-loop-helix DNA-binding (5);	0.171970	0.41396	N	0.000896	D	0.91294	0.7255	N	0.05534	-0.03	0.23747	N	0.996951	P;P	0.42735	0.648;0.788	B;B	0.40285	0.205;0.325	D	0.86127	0.1572	10	0.30854	T	0.27	1.6013	6.1622	0.20370	0.0:0.2111:0.0:0.7889	.	313;236	B4DX90;Q9NX45	.;SOLH2_HUMAN	S	236;313;313	ENSP00000369210:N236S;ENSP00000451542:N313S;ENSP00000421868:N313S	ENSP00000421868:N313S	N	-	2	0	CCDC169-SOHLH2;SOHLH2	35646941	0.999000	0.42202	0.889000	0.34880	0.051000	0.14879	1.101000	0.31037	0.307000	0.22880	0.528000	0.53228	AAT		0.418	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2		NM_017826	
SSC5D	284297	hgsc.bcm.edu	37	19	56029914	56029916	+	In_Frame_Del	DEL	CCA	CCA	-	rs373399507|rs140718732	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:56029914_56029916delCCA	ENST00000389623.6	+	14	4294_4296	c.4271_4273delCCA	c.(4270-4275)cccacc>ccc	p.T1425del		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1425	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						ACCCCTCCACCCACCCATACCCC	0.626														165	0.0329473	0.118	0.013	5008	,	,		12147	0.0		0.0	False		,,,				2504	0.0																0										251,2429		36,179,1125						1.6	0.0		dbSNP_134	142	16,5364		7,2,2681	no	coding	SSC5D	NM_001144950.1		43,181,3806	A1A1,A1R,RR		0.2974,9.3657,3.3127				267,7793				SO:0001651	inframe_deletion	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.4271_4273delCCA	19.37:g.56029914_56029916delCCA	ENSP00000374274:p.Thr1425del	Somatic		WXS	SOLID	Phase_I	B5MDQ5|C7S7T9|C7S7U0|K7EP70	In_Frame_Del	DEL	ENST00000389623.6	37	CCDS46196.1																																																																																				0.626	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2		XM_001718392	
ST6GALNAC2	10610	hgsc.bcm.edu;ucsc.edu	37	17	74562266	74562266	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr17:74562266C>T	ENST00000225276.5	-	9	1364	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	349					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCGTGGTTTGCATAAAATATC	0.502																																																	0													166.0	144.0	151.0					17																	74562266		2203	4300	6503	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.1045G>A	17.37:g.74562266C>T	ENSP00000225276:p.Ala349Thr	Somatic		WXS	SOLID	Phase_I	Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	4.637	0.118501	0.08881	.	.	ENSG00000070731	ENST00000225276	T	0.31510	1.49	5.35	1.06	0.20224	.	0.470348	0.21448	N	0.074364	T	0.25419	0.0618	L	0.46885	1.475	0.09310	N	1	B	0.27625	0.183	B	0.37422	0.249	T	0.25950	-1.0117	10	0.19590	T	0.45	0.0255	5.3707	0.16138	0.1326:0.5707:0.0:0.2967	.	349	Q9UJ37	SIA7B_HUMAN	T	349	ENSP00000225276:A349T	ENSP00000225276:A349T	A	-	1	0	ST6GALNAC2	72073861	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	1.174000	0.31932	0.249000	0.21456	-0.169000	0.13324	GCA		0.502	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1		NM_006456	
TBCB	1155	hgsc.bcm.edu;ucsc.edu	37	19	36611673	36611673	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr19:36611673A>T	ENST00000221855.3	+	3	895	c.320A>T	c.(319-321)tAc>tTc	p.Y107F	TBCB_ENST00000589996.1_Missense_Mutation_p.Y107F|TBCB_ENST00000585746.1_Missense_Mutation_p.Y56F|TBCB_ENST00000392178.4_3'UTR|TBCB_ENST00000586868.1_Intron	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	107					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGGAGAAGTACACGATCTCA	0.637																																																	0													90.0	71.0	78.0					19																	36611673		2203	4300	6503	SO:0001583	missense	1155			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.320A>T	19.37:g.36611673A>T	ENSP00000221855:p.Tyr107Phe	Somatic		WXS	SOLID	Phase_I	O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	A	0.618	-0.822435	0.02755	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.93133	-3.17	5.22	4.16	0.48862	Cytoskeleton-associated protein, Gly-rich domain (1);	0.254493	0.40064	N	0.001186	D	0.84844	0.5562	N	0.21194	0.64	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.77178	-0.2683	10	0.10636	T	0.68	-9.8456	8.4389	0.32803	0.8276:0.0:0.0:0.1724	.	56;107	Q6FGY5;Q99426	.;TBCB_HUMAN	F	107	ENSP00000221855:Y107F	ENSP00000221855:Y107F	Y	+	2	0	TBCB	41303513	0.065000	0.20965	0.982000	0.44146	0.135000	0.20990	0.376000	0.20535	1.983000	0.57843	0.368000	0.22195	TAC		0.637	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2		NM_001281	
TECPR1	25851	hgsc.bcm.edu	37	7	97870246	97870246	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr7:97870246C>A	ENST00000447648.2	-	8	1149	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	TECPR1_ENST00000542604.1_Missense_Mutation_p.V214L|TECPR1_ENST00000379795.3_Missense_Mutation_p.V284L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	284					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V284M(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGCTCCACGATGGACCAG	0.617																																																	1	Substitution - Missense(1)	endometrium(1)											26.0	32.0	30.0					7																	97870246		2197	4295	6492	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.850G>T	7.37:g.97870246C>A	ENSP00000404923:p.Val284Leu	Somatic		WXS	SOLID	Phase_I	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008424	0.35415	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.36157	1.28;1.27;1.32	5.15	4.27	0.50696	.	0.058519	0.64402	D	0.000002	T	0.40247	0.1109	M	0.69823	2.125	0.47341	D	0.999395	P;B	0.39862	0.692;0.127	B;B	0.39465	0.3;0.247	T	0.42258	-0.9462	10	0.66056	D	0.02	-15.8993	12.7119	0.57094	0.0:0.9205:0.0:0.0795	.	214;284	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	284;284;214	ENSP00000404923:V284L;ENSP00000369121:V284L;ENSP00000441121:V214L	ENSP00000369121:V284L	V	-	1	0	TECPR1	97708182	1.000000	0.71417	0.783000	0.31826	0.012000	0.07955	5.771000	0.68881	1.176000	0.42840	0.555000	0.69702	GTG		0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395	
TMEM186	25880	hgsc.bcm.edu	37	16	8889990	8889990	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:8889990G>T	ENST00000333050.6	-	2	494	c.461C>A	c.(460-462)aCa>aAa	p.T154K	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	154						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGGACAGTATGTGTCCTGCCG	0.542																																																	0													106.0	97.0	100.0					16																	8889990		2197	4300	6497	SO:0001583	missense	25880			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.461C>A	16.37:g.8889990G>T	ENSP00000331640:p.Thr154Lys	Somatic		WXS	SOLID	Phase_I	B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724576	0.48833	.	.	ENSG00000184857	ENST00000333050	T	0.42513	0.97	5.28	4.32	0.51571	.	0.143293	0.31734	N	0.007154	T	0.42268	0.1195	M	0.77616	2.38	0.27921	N	0.938257	P	0.43701	0.815	B	0.40534	0.332	T	0.46610	-0.9179	10	0.44086	T	0.13	-5.7164	7.4506	0.27235	0.2545:0.0:0.7455:0.0	.	154	Q96B77	TM186_HUMAN	K	154	ENSP00000331640:T154K	ENSP00000331640:T154K	T	-	2	0	TMEM186	8797491	0.998000	0.40836	0.099000	0.21106	0.459000	0.32528	4.402000	0.59722	1.234000	0.43709	0.491000	0.48974	ACA		0.542	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1		NM_015421	
TRAF3	7187	hgsc.bcm.edu	37	14	103357741	103357741	+	Missense_Mutation	SNP	C	C	G	rs369640883	byFrequency	TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr14:103357741C>G	ENST00000560371.1	+	8	1023	c.806C>G	c.(805-807)tCg>tGg	p.S269W	TRAF3_ENST00000347662.4_Missense_Mutation_p.S244W|TRAF3_ENST00000351691.5_Missense_Mutation_p.S244W|TRAF3_ENST00000392745.2_Missense_Mutation_p.S269W|TRAF3_ENST00000539721.1_Intron	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	269					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S269L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGGAGCAACTCGCTCGAAAAG	0.493																																																	1	Substitution - Missense(1)	breast(1)											64.0	51.0	55.0					14																	103357741		2203	4299	6502	SO:0001583	missense	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.806C>G	14.37:g.103357741C>G	ENSP00000454207:p.Ser269Trp	Somatic		WXS	SOLID	Phase_I	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357457	0.61293	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691	T;T	0.34859	1.34;1.34	5.87	5.87	0.94306	.	0.163089	0.43919	D	0.000505	T	0.27559	0.0677	N	0.14661	0.345	0.48452	D	0.999651	P;P	0.50943	0.94;0.895	P;B	0.46110	0.504;0.435	T	0.03315	-1.1049	10	0.66056	D	0.02	-29.4101	11.7621	0.51910	0.1372:0.7305:0.1323:0.0	.	244;269	A6NHG8;Q13114	.;TRAF3_HUMAN	W	269;244;269	ENSP00000376500:S269W;ENSP00000328003:S244W	ENSP00000328003:S244W	S	+	2	0	TRAF3	102427494	1.000000	0.71417	0.843000	0.33291	0.846000	0.48090	2.371000	0.44248	2.941000	0.99782	0.655000	0.94253	TCG		0.493	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1		NM_145725	
ZDHHC1	29800	hgsc.bcm.edu	37	16	67428940	67428940	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-4876-01A-01D-1373-10	TCGA-CJ-4876-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	852c4bf6-3ec9-4070-8e5f-78d12686ccac	dc4d5943-3138-4ed1-a452-21dbd520c16c	g.chr16:67428940T>A	ENST00000348579.2	-	10	1536	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	TPPP3_ENST00000290942.5_5'Flank|ZDHHC1_ENST00000566075.1_5'UTR|TPPP3_ENST00000393957.2_5'Flank|TPPP3_ENST00000562206.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	399					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGTTCGCACTTTATACACGCG	0.627																																																	0													22.0	27.0	25.0					16																	67428940		2197	4300	6497	SO:0001587	stop_gained	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.1195A>T	16.37:g.67428940T>A	ENSP00000340299:p.Lys399*	Somatic		WXS	SOLID	Phase_I	O15461	Nonsense_Mutation	SNP	ENST00000348579.2	37	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	T	36	5.798216	0.96952	.	.	ENSG00000159714	ENST00000348579	.	.	.	3.9	2.8	0.32819	.	10.119200	0.01542	U	0.019280	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4082	0.16332	0.0:0.1356:0.0:0.8644	.	.	.	.	X	399	.	ENSP00000340299:K399X	K	-	1	0	ZDHHC1	65986441	1.000000	0.71417	0.394000	0.26270	0.015000	0.08874	1.436000	0.34980	0.682000	0.31407	0.459000	0.35465	AAG		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1		NM_013304	
