#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
APC	324	hgsc.bcm.edu	37	5	112177363	112177363	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:112177363C>G	ENST00000457016.1	+	16	6452	c.6072C>G	c.(6070-6072)aaC>aaG	p.N2024K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.N2024K|APC_ENST00000508376.2_Missense_Mutation_p.N2024K			P25054	APC_HUMAN	adenomatous polyposis coli	2024	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		tctCAAGAAACAGTTCTCTCA	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											90.0	91.0	90.0					5																	112177363		2201	4300	6501	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6072C>G	5.37:g.112177363C>G	ENSP00000413133:p.Asn2024Lys	Somatic		WXS	SOLID	Phase_I	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345240	0.41498	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.77489	-1.1;-1.1;-1.1	5.86	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	L	0.50333	1.59	0.48511	D	0.999665	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80741	-0.1247	9	.	.	.	-18.9906	10.5966	0.45341	0.0:0.7434:0.0:0.2566	.	2026;2024	Q4LE70;P25054	.;APC_HUMAN	K	2024	ENSP00000413133:N2024K;ENSP00000257430:N2024K;ENSP00000427089:N2024K	.	N	+	3	2	APC	112205262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.997000	0.29731	0.831000	0.34780	0.650000	0.86243	AAC		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038	
AFAP1L1	134265	hgsc.bcm.edu	37	5	148685879	148685879	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:148685879C>A	ENST00000296721.4	+	6	545	c.447C>A	c.(445-447)agC>agA	p.S149R	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S149R|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	149						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCTGCAGCCCCTCACACT	0.582																																																	0													49.0	42.0	44.0					5																	148685879		2203	4300	6503	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.447C>A	5.37:g.148685879C>A	ENSP00000296721:p.Ser149Arg	Somatic		WXS	SOLID	Phase_I	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851607	0.51270	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.32515	1.45;1.45	5.35	4.48	0.54585	.	0.492287	0.22594	N	0.058042	T	0.49218	0.1544	M	0.73598	2.24	0.51767	D	0.99993	D;P;D	0.57571	0.957;0.624;0.98	P;B;P	0.61397	0.888;0.307;0.711	T	0.51012	-0.8759	10	0.66056	D	0.02	-11.11	8.9216	0.35615	0.0:0.7756:0.0:0.2244	.	149;149;149	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	R	149	ENSP00000296721:S149R;ENSP00000424427:S149R	ENSP00000296721:S149R	S	+	3	2	AFAP1L1	148666072	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.258000	0.32944	1.391000	0.46566	0.561000	0.74099	AGC		0.582	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1		NM_152406	
ARNT	405	hgsc.bcm.edu	37	1	150789853	150789853	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:150789853C>G	ENST00000358595.5	-	16	1762	c.1562G>C	c.(1561-1563)aGc>aCc	p.S521T	ARNT_ENST00000505755.1_Missense_Mutation_p.S506T|ARNT_ENST00000515192.1_Missense_Mutation_p.S507T|ARNT_ENST00000354396.2_Missense_Mutation_p.S521T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	521					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGATTGTAGCTGGCCAGTCC	0.423			T	ETV6	AML																																			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													156.0	133.0	141.0					1																	150789853		2203	4300	6503	SO:0001583	missense	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1562G>C	1.37:g.150789853C>G	ENSP00000351407:p.Ser521Thr	Somatic		WXS	SOLID	Phase_I	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130722	0.37630	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05855	3.48;3.49;3.48;3.38	5.6	4.68	0.58851	.	0.642979	0.17371	N	0.176694	T	0.03263	0.0095	L	0.55481	1.735	0.24617	N	0.993691	B;B;B;B;B	0.28512	0.102;0.214;0.214;0.214;0.06	B;B;B;B;B	0.31946	0.034;0.138;0.138;0.138;0.034	T	0.31558	-0.9939	10	0.46703	T	0.11	.	10.3371	0.43856	0.0:0.7939:0.1345:0.0716	.	506;521;507;506;521	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	T	521;521;507;473;506	ENSP00000351407:S521T;ENSP00000346372:S521T;ENSP00000423851:S507T;ENSP00000427571:S506T	ENSP00000346372:S521T	S	-	2	0	ARNT	149056477	0.247000	0.23920	1.000000	0.80357	0.993000	0.82548	0.903000	0.28475	1.343000	0.45638	0.591000	0.81541	AGC		0.423	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			
ARRDC3	57561	hgsc.bcm.edu;ucsc.edu	37	5	90671371	90671371	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:90671371T>C	ENST00000265138.3	-	4	836	c.570A>G	c.(568-570)ccA>ccG	p.P190P	ARRDC3_ENST00000503192.1_5'UTR	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	190					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTAAGGATATTGGGCCTGAGG	0.393																																																	0													123.0	131.0	128.0					5																	90671371		2203	4300	6503	SO:0001819	synonymous_variant	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.570A>G	5.37:g.90671371T>C		Somatic		WXS	SOLID	Phase_I	A8K6T8|Q9P2H1	Silent	SNP	ENST00000265138.3	37	CCDS34202.1																																																																																				0.393	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2		NM_020801	
ASB12	142689	hgsc.bcm.edu	37	X	63445177	63445177	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:63445177A>G	ENST00000396130.2	-	1	326	c.327T>C	c.(325-327)caT>caC	p.H109H	ASB12_ENST00000362002.2_Silent_p.H118H|MTMR8_ENST00000453546.1_Silent_p.H493H			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	109					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CACAGTCCAGATGGCCATGAC	0.532																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											112.0	65.0	81.0					X																	63445177		2203	4300	6503	SO:0001819	synonymous_variant	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.327T>C	X.37:g.63445177A>G		Somatic		WXS	SOLID	Phase_I	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37																																																																																					0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
BACH1	571	hgsc.bcm.edu	37	21	30714963	30714963	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr21:30714963G>T	ENST00000399921.1	+	5	2263	c.2020G>T	c.(2020-2022)Gac>Tac	p.D674Y	BACH1_ENST00000286800.3_Missense_Mutation_p.D674Y	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CAGTTTATCTGACCGGCCTCC	0.507																																																	0													67.0	72.0	70.0					21																	30714963		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2020G>T	21.37:g.30714963G>T	ENSP00000382805:p.Asp674Tyr	Somatic		WXS	SOLID	Phase_I	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643119	0.29246	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72167	-0.63;-0.63	4.98	1.81	0.25067	.	0.501018	0.18788	N	0.131121	T	0.56485	0.1988	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	T	0.53570	-0.8420	10	0.72032	D	0.01	-0.2668	8.9164	0.35585	0.1564:0.2415:0.6021:0.0	.	674	O14867	BACH1_HUMAN	Y	674	ENSP00000286800:D674Y;ENSP00000382805:D674Y	ENSP00000286800:D674Y	D	+	1	0	BACH1	29636834	0.347000	0.24853	0.010000	0.14722	0.199000	0.23934	1.894000	0.39768	0.603000	0.29913	-0.355000	0.07637	GAC		0.507	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1		NM_206866	
BVES	11149	hgsc.bcm.edu;ucsc.edu	37	6	105549032	105549032	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:105549032C>A	ENST00000314641.5	-	8	1231	c.1015G>T	c.(1015-1017)Gca>Tca	p.A339S	BVES_ENST00000336775.5_Missense_Mutation_p.A339S|BVES_ENST00000446408.2_Missense_Mutation_p.A339S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	339					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCATCTTCTGCTCCTTCTTCT	0.458																																																	0													208.0	176.0	187.0					6																	105549032		2203	4300	6503	SO:0001583	missense	11149			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.1015G>T	6.37:g.105549032C>A	ENSP00000313172:p.Ala339Ser	Somatic		WXS	SOLID	Phase_I	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.439872	0.25900	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.17528	2.27;2.27;2.27	5.3	3.51	0.40186	.	0.243961	0.40144	N	0.001168	T	0.02012	0.0063	N	0.08118	0	0.20873	N	0.999834	B	0.06786	0.001	B	0.08055	0.003	T	0.47341	-0.9125	10	0.12766	T	0.61	-29.0836	8.071	0.30689	0.0:0.7558:0.1579:0.0863	.	339	Q8NE79	POPD1_HUMAN	S	339	ENSP00000313172:A339S;ENSP00000337259:A339S;ENSP00000397310:A339S	ENSP00000313172:A339S	A	-	1	0	BVES	105655725	0.031000	0.19500	0.971000	0.41717	0.220000	0.24768	0.955000	0.29188	0.710000	0.31997	-0.133000	0.14855	GCA		0.458	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1		NM_147147	
HECTD4	283450	hgsc.bcm.edu	37	12	112616787	112616787	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:112616787G>A	ENST00000430131.2	-	63	11190	c.10045C>T	c.(10045-10047)Cgg>Tgg	p.R3349W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R3599W|HECTD4_ENST00000550722.1_Missense_Mutation_p.R3625W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3349					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGATAGGCCGCTTGGTGCTC	0.622																																																	0													30.0	33.0	32.0					12																	112616787		2054	4201	6255	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10045C>T	12.37:g.112616787G>A	ENSP00000404379:p.Arg3349Trp	Somatic		WXS	SOLID	Phase_I	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.742191	0.89573	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.55052	0.54;0.55;0.54	5.7	5.7	0.88788	.	.	.	.	.	T	0.58466	0.2124	N	0.19112	0.55	0.54753	D	0.999987	D	0.89917	1.0	D	0.74023	0.982	T	0.62900	-0.6756	9	0.87932	D	0	.	14.6392	0.68711	0.0:0.0:0.8545:0.1455	.	3349	Q9Y4D8	K0614_HUMAN	W	3599;3349;3625	ENSP00000366783:R3599W;ENSP00000404379:R3349W;ENSP00000449784:R3625W	ENSP00000366783:R3599W	R	-	1	2	C12orf51	111101170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.789000	0.62446	2.678000	0.91216	0.655000	0.94253	CGG		0.622	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	
C3orf67	200844	hgsc.bcm.edu	37	3	58739534	58739534	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr3:58739534T>G	ENST00000482387.1	-	12	2015	c.1919A>C	c.(1918-1920)gAg>gCg	p.E640A	C3orf67_ENST00000295966.7_Missense_Mutation_p.E514A			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	640										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGGACGCTGCTCAGCCGGCTG	0.383																																																	0													55.0	57.0	56.0					3																	58739534		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1919A>C	3.37:g.58739534T>G	ENSP00000417122:p.Glu640Ala	Somatic		WXS	SOLID	Phase_I	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.195|9.195	1.027017|1.027017	0.19512|0.19512	.|.	.|.	ENSG00000163689|ENSG00000163689	ENST00000295966;ENST00000482387|ENST00000486145	T;T|.	0.20598|.	2.06;2.07|.	5.77|5.77	4.61|4.61	0.57282|0.57282	.|.	0.410133|.	0.26180|.	N|.	0.025865|.	T|.	0.34279|.	0.0892|.	L|L	0.38175|0.38175	1.15|1.15	0.24442|0.24442	N|N	0.994528|0.994528	P;P|.	0.45531|.	0.51;0.86|.	B;P|.	0.44561|.	0.23;0.453|.	T|.	0.24476|.	-1.0159|.	10|.	0.31617|.	T|.	0.26|.	-2.641|-2.641	5.4234|5.4234	0.16413|0.16413	0.1518:0.0876:0.0:0.7606|0.1518:0.0876:0.0:0.7606	.|.	514;640|.	Q6ZVT6-2;Q6ZVT6|.	.;CC067_HUMAN|.	A|C	514;640|53	ENSP00000295966:E514A;ENSP00000417122:E640A|.	ENSP00000295966:E514A|.	E|X	-|-	2|3	0|0	C3orf67|C3orf67	58714574|58714574	0.138000|0.138000	0.22547|0.22547	0.031000|0.031000	0.17742|0.17742	0.226000|0.226000	0.24999|0.24999	2.201000|2.201000	0.42734|0.42734	1.105000|1.105000	0.41606|0.41606	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.383	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1		NM_198463	
SPATA31E1	286234	hgsc.bcm.edu	37	9	90498959	90498959	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:90498959A>G	ENST00000325643.5	+	2	428	c.362A>G	c.(361-363)aAa>aGa	p.K121R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	121					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGCTCTGAAAGGTGAGGCT	0.592																																																	0													55.0	45.0	49.0					9																	90498959		2203	4299	6502	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.362A>G	9.37:g.90498959A>G	ENSP00000322640:p.Lys121Arg	Somatic		WXS	SOLID	Phase_I	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342193	0.41498	.	.	ENSG00000177992	ENST00000325643	T	0.04317	3.65	2.37	1.21	0.21127	.	0.702407	0.11765	N	0.531744	T	0.05777	0.0151	L	0.39514	1.22	0.20074	N	0.999935	P	0.49559	0.925	P	0.49752	0.621	T	0.34129	-0.9841	10	0.15499	T	0.54	.	4.136	0.10170	0.8222:0.0:0.1778:0.0	.	121	Q6ZUB1	CI079_HUMAN	R	121	ENSP00000322640:K121R	ENSP00000322640:K121R	K	+	2	0	C9orf79	89688779	0.002000	0.14202	0.834000	0.33040	0.044000	0.14063	0.040000	0.13905	0.337000	0.23665	0.416000	0.27883	AAA		0.592	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2		NM_178828	
CD109	135228	hgsc.bcm.edu;ucsc.edu	37	6	74407205	74407205	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:74407205C>A	ENST00000287097.5	+	2	269	c.157C>A	c.(157-159)Cct>Act	p.P53T	CD109_ENST00000437994.2_Missense_Mutation_p.P53T|RP11-553A21.3_ENST00000428865.2_RNA|CD109_ENST00000422508.2_Missense_Mutation_p.P53T			Q6YHK3	CD109_HUMAN	CD109 molecule	53					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAACACTGCCCTTCACAGGT	0.512																																																	0													111.0	113.0	112.0					6																	74407205		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.157C>A	6.37:g.74407205C>A	ENSP00000287097:p.Pro53Thr	Somatic		WXS	SOLID	Phase_I	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253107	0.80135	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.58940	1.86;0.3;1.85	5.31	5.31	0.75309	.	0.391099	0.21264	N	0.077422	T	0.47021	0.1423	N	0.08118	0	0.26873	N	0.967716	D;D;B;B	0.89917	1.0;1.0;0.251;0.404	D;D;B;B	0.91635	0.998;0.999;0.242;0.146	T	0.52056	-0.8626	10	0.44086	T	0.13	.	16.0095	0.80391	0.0:1.0:0.0:0.0	.	53;53;53;53	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	T	53	ENSP00000388062:P53T;ENSP00000404475:P53T;ENSP00000287097:P53T	ENSP00000287097:P53T	P	+	1	0	CD109	74463926	0.968000	0.33430	0.999000	0.59377	0.953000	0.61014	4.154000	0.58125	2.779000	0.95612	0.655000	0.94253	CCT		0.512	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493	
CD109	135228	hgsc.bcm.edu	37	6	74517871	74517871	+	Silent	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:74517871C>T	ENST00000287097.5	+	26	3367	c.3255C>T	c.(3253-3255)gaC>gaT	p.D1085D	CD109_ENST00000437994.2_Silent_p.D1085D|CD109_ENST00000422508.2_Silent_p.D1008D			Q6YHK3	CD109_HUMAN	CD109 molecule	1085					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATTTCAGACAATTATACTC	0.373																																																	0													84.0	82.0	83.0					6																	74517871		2203	4300	6503	SO:0001819	synonymous_variant	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3255C>T	6.37:g.74517871C>T		Somatic		WXS	SOLID	Phase_I	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493	
CD300LB	124599	hgsc.bcm.edu	37	17	72527588	72527588	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:72527588A>T	ENST00000392621.1	-	1	17	c.13T>A	c.(13-15)Tgc>Agc	p.C5S	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5S	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCTGGCTTGCACCTTCTGCAC	0.488																																																	0													79.0	71.0	74.0					17																	72527588		2203	4300	6503	SO:0001583	missense	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.13T>A	17.37:g.72527588A>T	ENSP00000376397:p.Cys5Ser	Somatic		WXS	SOLID	Phase_I	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	A	7.436	0.639761	0.14386	.	.	ENSG00000178789	ENST00000314401	T	0.05258	3.47	3.94	-5.63	0.02474	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.15052	0.012	T	0.45542	-0.9254	9	0.15952	T	0.53	.	0.8166	0.01103	0.2502:0.2646:0.2989:0.1863	.	5	B4DQ71	.	S	5	ENSP00000317337:C5S	ENSP00000317337:C5S	C	-	1	0	CD300LB	70039183	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.823000	0.04443	-1.435000	0.01972	0.383000	0.25322	TGC		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2		NM_174892	
CD82	3732	hgsc.bcm.edu	37	11	44640632	44640632	+	Missense_Mutation	SNP	C	C	T	rs201405906	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:44640632C>T	ENST00000227155.4	+	10	1008	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	CD82_ENST00000342935.3_Missense_Mutation_p.R229W|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						CTGCTTGTGCCGGCACGTCCA	0.652													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17715	0.001		0.0	False		,,,				2504	0.0																0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	142.0	120.0	128.0		685,760	3.2	1.0	11		128	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	CD82	NM_001024844.1,NM_002231.3	101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	229/243,254/268	44640632	1,13003	2203	4299	6502	SO:0001583	missense	3732			U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.760C>T	11.37:g.44640632C>T	ENSP00000227155:p.Arg254Trp	Somatic		WXS	SOLID	Phase_I	D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Missense_Mutation	SNP	ENST00000227155.4	37	CCDS7909.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409932	0.42715	0.0	1.16E-4	ENSG00000085117	ENST00000227155;ENST00000342935;ENST00000524750	T;T	0.81078	-1.45;-1.45	4.23	3.24	0.37175	.	0.184882	0.43416	D	0.000571	T	0.81683	0.4874	M	0.88105	2.93	0.44162	D	0.996966	P;P	0.50710	0.938;0.691	B;B	0.42798	0.398;0.152	D	0.84520	0.0627	10	0.87932	D	0	.	8.4405	0.32812	0.2328:0.7672:0.0:0.0	.	229;254	E9PC70;P27701	.;CD82_HUMAN	W	254;229;44	ENSP00000227155:R254W;ENSP00000339686:R229W	ENSP00000227155:R254W	R	+	1	2	CD82	44597208	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.611000	0.46334	1.896000	0.54893	0.462000	0.41574	CGG		0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			
CDC5L	988	hgsc.bcm.edu	37	6	44414438	44414438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:44414438C>A	ENST00000371477.3	+	16	2698	c.2399C>A	c.(2398-2400)tCa>tAa	p.S800*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	800	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTTAAAGTCAAAATTCTGA	0.338																																																	0													90.0	96.0	94.0					6																	44414438		2203	4299	6502	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2399C>A	6.37:g.44414438C>A	ENSP00000360532:p.Ser800*	Somatic		WXS	SOLID	Phase_I	Q76N46|Q99974	Nonsense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	41	8.982324	0.99025	.	.	ENSG00000096401	ENST00000371477	.	.	.	6.01	5.14	0.70334	.	0.481269	0.24988	N	0.034018	.	.	.	.	.	.	0.44843	D	0.997855	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6061	15.1954	0.73084	0.0:0.9327:0.0:0.0673	.	.	.	.	X	800	.	ENSP00000360532:S800X	S	+	2	0	CDC5L	44522416	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	6.636000	0.74299	1.552000	0.49463	0.650000	0.86243	TCA		0.338	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123307998	123307998	+	Missense_Mutation	SNP	T	T	C	rs567442825		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:123307998T>C	ENST00000349780.4	-	5	556	c.377A>G	c.(376-378)aAa>aGa	p.K126R	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K126R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K126R|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K126R	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	126					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCACGAGGCTTTGATGAGCAG	0.453													T|||	1	0.000199681	0.0	0.0	5008	,	,		18431	0.001		0.0	False		,,,				2504	0.0																0													173.0	162.0	166.0					9																	123307998		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.377A>G	9.37:g.123307998T>C	ENSP00000343818:p.Lys126Arg	Somatic		WXS	SOLID	Phase_I	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541998	0.85917	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.62	5.62	0.85841	Spindle associated (1);	0.000000	0.64402	D	0.000007	T	0.42832	0.1220	L	0.52206	1.635	0.34086	D	0.660175	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.81914	0.98;0.972;0.995	T	0.51276	-0.8726	10	0.23302	T	0.38	.	13.7664	0.62997	0.0:0.0:0.0:1.0	.	126;126;126	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	R	126	ENSP00000354065:K126R;ENSP00000352258:K126R;ENSP00000343818:K126R;ENSP00000353317:K126R	ENSP00000341695:K126R	K	-	2	0	CDK5RAP2	122347819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.714000	0.37961	2.130000	0.65690	0.528000	0.53228	AAA		0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249	
CEACAM5	1048	hgsc.bcm.edu	37	19	42213868	42213868	+	Missense_Mutation	SNP	A	A	G	rs34155934	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:42213868A>G	ENST00000221992.6	+	2	448	c.334A>G	c.(334-336)Atc>Gtc	p.I112V	CEA_ENST00000598976.1_Missense_Mutation_p.I112V|CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.I112V|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I112V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	112	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GATCCAGAACATCATCCAGAA	0.453													a|||	649	0.129593	0.2799	0.0865	5008	,	,		19981	0.0		0.1958	False		,,,				2504	0.0225																0								A	VAL/ILE	1093,3313		181,731,1291	230.0	234.0	233.0		334	-0.9	0.0	19	dbSNP_126	233	1294,7306		115,1064,3121	no	missense	CEACAM5	NM_004363.2	29	296,1795,4412	GG,GA,AA		15.0465,24.8071,18.3531	benign	112/703	42213868	2387,10619	2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.334A>G	19.37:g.42213868A>G	ENSP00000221992:p.Ile112Val	Somatic		WXS	SOLID	Phase_I	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	261|261	0.11950549450549451|0.11950549450549451	96|96	0.1951219512195122|0.1951219512195122	34|34	0.09392265193370165|0.09392265193370165	0|0	0.0|0.0	131|131	0.17282321899736147|0.17282321899736147	-|-	0.008|0.008	-1.883991|-1.883991	0.00532|0.00532	0.248071|0.248071	0.150465|0.150465	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.63255	.|-0.03;-0.03	3.09|3.09	-0.944|-0.944	0.10392|0.10392	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00026|0.00026	-2.66|-2.66	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.18741	.|0.03;0.0;0.0	.|B;B;B	.|0.28305	.|0.088;0.002;0.002	T|T	0.30563|0.30563	-0.9974|-0.9974	4|8	.|0.02654	.|T	.|1	.|.	3.103|3.103	0.06333|0.06333	0.3082:0.2268:0.465:0.0|0.3082:0.2268:0.465:0.0	rs34155934|rs34155934	.|112;112;112	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	R|V	108|112	.|ENSP00000221992:I112V;ENSP00000385072:I112V	.|ENSP00000221992:I112V	H|I	+|+	2|1	0|0	CEACAM5|CEACAM5	46905708|46905708	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.011000|0.011000	0.07611|0.07611	-0.152000|-0.152000	0.10159|0.10159	0.127000|0.127000	0.18452|0.18452	-0.769000|-0.769000	0.03391|0.03391	CAT|ATC		0.453	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363	
CGN	57530	hgsc.bcm.edu;ucsc.edu	37	1	151498197	151498197	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:151498197C>T	ENST00000271636.7	+	9	1827	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	559	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGAGACTTCAGAGGAGACA	0.552																																																	0													87.0	74.0	79.0					1																	151498197		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1694C>T	1.37:g.151498197C>T	ENSP00000271636:p.Ser565Leu	Somatic		WXS	SOLID	Phase_I	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679609	0.47886	.	.	ENSG00000143375	ENST00000271636	T	0.64618	-0.11	4.35	4.35	0.52113	.	0.305900	0.34531	N	0.003890	T	0.39860	0.1094	M	0.65975	2.015	0.32024	N	0.600444	P	0.43094	0.799	B	0.33339	0.162	T	0.46898	-0.9158	10	0.34782	T	0.22	-5.8786	11.9462	0.52930	0.0:0.8242:0.1758:0.0	.	559	Q9P2M7	CING_HUMAN	L	565	ENSP00000271636:S565L	ENSP00000271636:S565L	S	+	2	0	CGN	149764821	0.944000	0.32072	0.996000	0.52242	0.993000	0.82548	1.741000	0.38238	2.409000	0.81822	0.655000	0.94253	TCA		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770	
COL4A3	1285	hgsc.bcm.edu	37	2	228131178	228131178	+	Missense_Mutation	SNP	C	C	T	rs374905404		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr2:228131178C>T	ENST00000396578.3	+	22	1523	c.1361C>T	c.(1360-1362)cCa>cTa	p.P454L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	454	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACGGACTGCCAGGCTATCTA	0.403																																																	0													72.0	70.0	71.0					2																	228131178		1850	4096	5946	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1361C>T	2.37:g.228131178C>T	ENSP00000379823:p.Pro454Leu	Somatic		WXS	SOLID	Phase_I	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407085	0.62399	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.92299	-3.01	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000036	D	0.94604	0.8261	L	0.50993	1.605	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	D	0.94793	0.7964	10	0.87932	D	0	.	15.3121	0.74042	0.0:1.0:0.0:0.0	.	454;454;454;454	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	454	ENSP00000379823:P454L	ENSP00000323334:P454L	P	+	2	0	COL4A3	227839422	0.994000	0.37717	0.990000	0.47175	0.286000	0.27126	2.663000	0.46774	2.685000	0.91497	0.655000	0.94253	CCA		0.403	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091	
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19263574	19263574	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr8:19263574A>C	ENST00000454498.2	-	10	2329	c.1316T>G	c.(1315-1317)tTt>tGt	p.F439C	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.F439C|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.F439C	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	439					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTCCAGATCAAACCCACCTGT	0.498																																																	0													100.0	97.0	98.0					8																	19263574		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1316T>G	8.37:g.19263574A>C	ENSP00000411816:p.Phe439Cys	Somatic		WXS	SOLID	Phase_I	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209483	0.79240	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85109	0.0962	10	0.87932	D	0	-20.6369	14.9982	0.71449	1.0:0.0:0.0:0.0	.	439	Q8TDX6	CGAT1_HUMAN	C	439	ENSP00000411816:F439C;ENSP00000330805:F439C;ENSP00000310891:F439C;ENSP00000429809:F439C;ENSP00000442155:F439C	ENSP00000310891:F439C	F	-	2	0	CSGALNACT1	19307854	1.000000	0.71417	0.917000	0.36280	0.800000	0.45204	8.879000	0.92398	2.223000	0.72356	0.482000	0.46254	TTT		0.498	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		NM_018371	
CYB5R2	51700	hgsc.bcm.edu;ucsc.edu	37	11	7686754	7686754	+	Missense_Mutation	SNP	C	C	T	rs112522871	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:7686754C>T	ENST00000533558.1	-	9	1238	c.682G>A	c.(682-684)Gtt>Att	p.V228I	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.V228I|CYB5R2_ENST00000524790.1_3'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	228					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGGCAGTAACGAAGCCTGAG	0.602											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	76.0	81.0					11																	7686754		2201	4296	6497	SO:0001583	missense	51700			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.682G>A	11.37:g.7686754C>T	ENSP00000437041:p.Val228Ile	Somatic	643	WXS	SOLID	Phase_I	Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496425	0.01001	.	.	ENSG00000166394	ENST00000299498;ENST00000533558	D;D	0.90732	-2.72;-2.72	5.8	-4.05	0.03998	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.403083	0.26948	N	0.021693	T	0.74951	0.3784	N	0.12527	0.23	0.46222	D	0.998934	B	0.06786	0.001	B	0.09377	0.004	T	0.61544	-0.7041	10	0.02654	T	1	-2.7325	13.153	0.59500	0.0:0.4847:0.0:0.5153	.	228	Q6BCY4	NB5R2_HUMAN	I	228	ENSP00000299498:V228I;ENSP00000437041:V228I	ENSP00000299498:V228I	V	-	1	0	CYB5R2	7643330	0.001000	0.12720	0.000000	0.03702	0.061000	0.15899	-0.099000	0.11007	-0.795000	0.04462	-0.727000	0.03589	GTT		0.602	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1		NM_016229	
DISP2	85455	hgsc.bcm.edu;ucsc.edu	37	15	40661375	40661375	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr15:40661375T>C	ENST00000267889.3	+	8	3149	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1021					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAGGCCCTGTTTCTCTCTGCC	0.597																																																	0													77.0	73.0	74.0					15																	40661375		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3062T>C	15.37:g.40661375T>C	ENSP00000267889:p.Phe1021Ser	Somatic		WXS	SOLID	Phase_I	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750549	0.31046	.	.	ENSG00000140323	ENST00000267889	D	0.91686	-2.89	4.88	4.88	0.63580	.	0.050869	0.85682	D	0.000000	D	0.92954	0.7758	L	0.40543	1.245	0.45272	D	0.998276	D	0.76494	0.999	D	0.68943	0.961	D	0.90932	0.4791	10	0.21014	T	0.42	-12.7758	14.6562	0.68835	0.0:0.0:0.0:1.0	.	1021	A7MBM2	DISP2_HUMAN	S	1021	ENSP00000267889:F1021S	ENSP00000267889:F1021S	F	+	2	0	DISP2	38448667	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.105000	0.57797	2.045000	0.60652	0.418000	0.28097	TTT		0.597	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510	
DNAJC14	85406	hgsc.bcm.edu	37	12	56221611	56221611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:56221611G>A	ENST00000357606.3	-	3	1121	c.832C>T	c.(832-834)Caa>Taa	p.Q278*	RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q278*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q278*|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	278					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTTTTCAGTTGCCTGCAGGCA	0.507																																																	0													94.0	80.0	85.0					12																	56221611		2203	4300	6503	SO:0001587	stop_gained	85406			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.832C>T	12.37:g.56221611G>A	ENSP00000350223:p.Gln278*	Somatic		WXS	SOLID	Phase_I	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373284	0.98245	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	.	.	.	5.18	3.3	0.37823	.	0.596334	0.17554	N	0.170070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.9963	4.8829	0.13688	0.178:0.0:0.645:0.177	.	.	.	.	X	278	.	.	Q	-	1	0	DNAJC14	54507878	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	1.798000	0.38814	0.637000	0.30526	0.655000	0.94253	CAA		0.507	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1		NM_032364	
DPM1	8813	hgsc.bcm.edu	37	20	49574946	49574946	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr20:49574946T>A	ENST00000371588.5	-	1	141	c.115A>T	c.(115-117)Aac>Tac	p.N39Y	DPM1_ENST00000466152.1_5'UTR|MOCS3_ENST00000244051.1_5'Flank|DPM1_ENST00000371582.4_Missense_Mutation_p.N39Y|DPM1_ENST00000371583.5_Missense_Mutation_p.N39Y	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGCGGCAGGTTCTCGCGCTCG	0.587																																																	0													52.0	45.0	47.0					20																	49574946		2203	4300	6503	SO:0001583	missense	8813			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.115A>T	20.37:g.49574946T>A	ENSP00000360644:p.Asn39Tyr	Somatic		WXS	SOLID	Phase_I	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.245986|5.245986	0.95272|0.95272	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371584|ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082	T|T;T;T;T	0.62498|0.57595	0.02|0.39;0.39;0.39;0.39	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Glycosyl transferase, family 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85818|0.85818	0.5785|0.5785	H|H	0.99838|0.99838	4.83|4.83	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.92449|0.92449	0.5968|0.5968	6|9	.|.	.|.	.|.	-17.8902|-17.8902	15.8123|15.8123	0.78573|0.78573	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|39	.|O60762	.|DPM1_HUMAN	V|Y	38|39	ENSP00000360640:E38V|ENSP00000360644:N39Y;ENSP00000360638:N39Y;ENSP00000360639:N39Y;ENSP00000394921:N39Y	.|.	E|N	-|-	2|1	0|0	DPM1|DPM1	49008353|49008353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.268000|5.268000	0.65536|0.65536	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.587	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859	
DYNC1H1	1778	hgsc.bcm.edu;ucsc.edu	37	14	102505179	102505179	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:102505179C>T	ENST00000360184.4	+	59	11364	c.11200C>T	c.(11200-11202)Ctt>Ttt	p.L3734F	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3734	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCTTCTTAAACTTCAAGGTAG	0.443																																																	0													152.0	146.0	148.0					14																	102505179		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11200C>T	14.37:g.102505179C>T	ENSP00000348965:p.Leu3734Phe	Somatic		WXS	SOLID	Phase_I	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.004053|5.004053	0.93287|0.93287	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.63417|.	-0.04|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87732|0.87732	0.6251|0.6251	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.90474|0.90474	0.4455|0.4455	10|5	0.56958|.	D|.	0.05|.	.|.	19.8182|19.8182	0.96579|0.96579	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3734|.	Q14204|.	DYHC1_HUMAN|.	F|I	3734|160	ENSP00000348965:L3734F|.	ENSP00000348965:L3734F|.	L|T	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101574932|101574932	1.000000|1.000000	0.71417|0.71417	0.136000|0.136000	0.22124|0.22124	0.909000|0.909000	0.53808|0.53808	6.088000|6.088000	0.71371|0.71371	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CTT|ACT		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	
EXOC3L2	90332	hgsc.bcm.edu;ucsc.edu	37	19	45731306	45731306	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:45731306T>C	ENST00000252482.3	-	3	246	c.219A>G	c.(217-219)gcA>gcG	p.A73A	EXOC3L2_ENST00000413988.1_Silent_p.A73A			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	73					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TGATGCGGGGTGCTCGCTCTG	0.637																																																	0													59.0	52.0	54.0					19																	45731306		2203	4300	6503	SO:0001819	synonymous_variant	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.219A>G	19.37:g.45731306T>C		Somatic		WXS	SOLID	Phase_I	Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	CCDS12657.1																																																																																				0.637	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1		NM_138568	
GPR115	221393	hgsc.bcm.edu;ucsc.edu	37	6	47681783	47681783	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:47681783G>C	ENST00000283303.2	+	6	1060	c.802G>C	c.(802-804)Gat>Cat	p.D268H	GPR115_ENST00000371220.1_Missense_Mutation_p.D325H|GPR115_ENST00000327753.3_Missense_Mutation_p.D268H|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	268					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TACCACAGAAGATATCTTAGG	0.433																																					GBM(22;431 510 9010 26644 32828)												0													63.0	64.0	64.0					6																	47681783		2203	4300	6503	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.802G>C	6.37:g.47681783G>C	ENSP00000283303:p.Asp268His	Somatic		WXS	SOLID	Phase_I	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369512	0.05069	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37584	1.43;1.19;1.19	5.19	2.47	0.30058	.	1.061930	0.07255	N	0.866610	T	0.12732	0.0309	L	0.36672	1.1	0.09310	N	1	P	0.38148	0.62	B	0.38225	0.268	T	0.33445	-0.9868	10	0.62326	D	0.03	-0.4729	4.4773	0.11750	0.3803:0.0:0.4769:0.1429	.	268	Q8IZF3	GP115_HUMAN	H	325;268;268	ENSP00000360264:D325H;ENSP00000328319:D268H;ENSP00000283303:D268H	ENSP00000283303:D268H	D	+	1	0	GPR115	47789742	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.651000	0.24873	0.301000	0.22738	0.655000	0.94253	GAT		0.433	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2		NM_153838	
GPR152	390212	hgsc.bcm.edu;ucsc.edu	37	11	67218864	67218864	+	Silent	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:67218864G>A	ENST00000312457.2	-	1	1336	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTGTGGCTGGGTCCTCAAGGG	0.677																																					Pancreas(102;800 1581 2723 7382 33622)												0													36.0	40.0	39.0					11																	67218864		2200	4293	6493	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1332C>T	11.37:g.67218864G>A		Somatic		WXS	SOLID	Phase_I	Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			
GPR98	84059	hgsc.bcm.edu	37	5	89999583	89999583	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:89999583A>T	ENST00000405460.2	+	35	8353	c.8257A>T	c.(8257-8259)Aac>Tac	p.N2753Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2753	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATTTTGCTAACTTTAGCGG	0.338																																																	0													67.0	65.0	65.0					5																	89999583		1806	4075	5881	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8257A>T	5.37:g.89999583A>T	ENSP00000384582:p.Asn2753Tyr	Somatic		WXS	SOLID	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653284	0.29425	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.15	5.15	0.70609	.	0.316247	0.38720	N	0.001598	T	0.43010	0.1228	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.64042	0.921;0.921	T	0.32052	-0.9921	10	0.59425	D	0.04	.	11.5135	0.50507	0.8661:0.0:0.0:0.1339	.	2753;2753	E7ETI5;Q8WXG9	.;GPR98_HUMAN	Y	2753	ENSP00000384582:N2753Y	ENSP00000296619:N2753Y	N	+	1	0	GPR98	90035339	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.212000	0.42835	2.173000	0.68751	0.528000	0.53228	AAC		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
GSTT2B	653689	hgsc.bcm.edu	37	22	24300634	24300634	+	Silent	SNP	G	G	T	rs56104230	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr22:24300634G>T	ENST00000290765.4	-	4	417	c.363C>A	c.(361-363)ccC>ccA	p.P121P	GSTT2B_ENST00000404172.3_Silent_p.P121P	NM_001080843.2	NP_001074312.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2B (gene/pseudogene)	121	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)										CCCCAATGAGGGGCCCCAACA	0.622													.|||	4258	0.85024	0.9425	0.6758	5008	,	,		11754	0.8056		0.834	False		,,,				2504	0.9121																0													8.0	12.0	11.0					22																	24300634		1689	3381	5070	SO:0001819	synonymous_variant	653689			BC071700	CCDS33617.1	22q11.23	2012-06-21			ENSG00000133433	ENSG00000133433	2.5.1.18	"""Glutathione S-transferases / Soluble"""	33437	protein-coding gene	gene with protein product						9729470	Standard	NM_001080843		Approved	GSTT2P		P0CG30	OTTHUMG00000150774	ENST00000290765.4:c.363C>A	22.37:g.24300634G>T		Somatic		WXS	SOLID	Phase_I	O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000290765.4	37	CCDS33617.1																																																																																				0.622	GSTT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320012.1		NM_001080843	
HELZ	9931	hgsc.bcm.edu	37	17	65119196	65119196	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:65119196A>G	ENST00000358691.5	-	26	3686	c.3520T>C	c.(3520-3522)Ttg>Ctg	p.L1174L	HELZ_ENST00000580168.1_Silent_p.L1175L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1174						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GATTTTCCCAAATTTGGGTGA	0.418																																																	0													93.0	90.0	91.0					17																	65119196		1857	4090	5947	SO:0001819	synonymous_variant	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3520T>C	17.37:g.65119196A>G		Somatic		WXS	SOLID	Phase_I	I6L9H4	Silent	SNP	ENST00000358691.5	37	CCDS42374.1																																																																																				0.418	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877	
KIAA0226	9711	hgsc.bcm.edu;ucsc.edu	37	3	197427934	197427934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr3:197427934G>A	ENST00000296343.5	-	7	810	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.Q271*|KIAA0226_ENST00000449205.1_Nonsense_Mutation_p.Q271*|KIAA0226_ENST00000273582.5_Nonsense_Mutation_p.Q211*	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	271	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGATGGTTTGATCCTCTGCT	0.512																																					Esophageal Squamous(3;167 355 3763 15924)												0													56.0	58.0	57.0					3																	197427934		1904	4131	6035	SO:0001587	stop_gained	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.811C>T	3.37:g.197427934G>A	ENSP00000296343:p.Gln271*	Somatic		WXS	SOLID	Phase_I	Q96CK5	Nonsense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.726612|2.726612	0.48833|0.48833	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000413360	.|.	.|.	.|.	5.85|5.85	4.97|4.97	0.65823|0.65823	.|.	0.773402|.	0.12519|.	N|.	0.461838|.	.|T	.|0.67192	.|0.2867	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71672	.|-0.4522	.|3	0.18710|.	T|.	0.47|.	.|.	15.3477|15.3477	0.74355|0.74355	0.0:0.139:0.861:0.0|0.0:0.139:0.861:0.0	.|.	.|.	.|.	.|.	X|L	211;271;271;271|249	.|.	ENSP00000273582:Q211X|.	Q|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198912331|198912331	0.058000|0.058000	0.20735|0.20735	0.084000|0.084000	0.20598|0.20598	0.087000|0.087000	0.18053|0.18053	1.718000|1.718000	0.38001|0.38001	1.448000|1.448000	0.47680|0.47680	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1		XM_032901	
KIF1B	23095	hgsc.bcm.edu	37	1	10318706	10318706	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:10318706A>C	ENST00000377086.1	+	4	541	c.339A>C	c.(337-339)gaA>gaC	p.E113D	KIF1B_ENST00000377093.4_Missense_Mutation_p.E113D|KIF1B_ENST00000377081.1_Missense_Mutation_p.E113D|KIF1B_ENST00000263934.6_Missense_Mutation_p.E113D|KIF1B_ENST00000377083.1_Missense_Mutation_p.E113D			O60333	KIF1B_HUMAN	kinesin family member 1B	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACAAGAAGAAAGCCAGGCTG	0.348																																																	0													98.0	95.0	96.0					1																	10318706		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.339A>C	1.37:g.10318706A>C	ENSP00000366290:p.Glu113Asp	Somatic		WXS	SOLID	Phase_I	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	A	15.12	2.739029	0.49045	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.69	0.863	0.19062	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	N	0.13299	0.325	0.58432	D	0.999992	B;B;P;B;B;D;B	0.57257	0.361;0.011;0.542;0.249;0.135;0.979;0.04	P;B;B;B;B;P;B	0.50405	0.464;0.021;0.348;0.348;0.115;0.64;0.039	T	0.54105	-0.8343	10	0.23891	T	0.37	.	10.4526	0.44531	0.4376:0.0:0.5624:0.0	.	113;113;113;113;113;113;113	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	D	113	ENSP00000263934:E113D;ENSP00000366297:E113D;ENSP00000366290:E113D;ENSP00000366287:E113D;ENSP00000366284:E113D	ENSP00000263934:E113D	E	+	3	2	KIF1B	10241293	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.096000	0.30976	-0.084000	0.12595	0.377000	0.23210	GAA		0.348	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			
KIF27	55582	hgsc.bcm.edu;ucsc.edu	37	9	86502010	86502010	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:86502010G>A	ENST00000297814.2	-	9	2328	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F	KIF27_ENST00000334204.2_Missense_Mutation_p.L729F|KIF27_ENST00000376347.1_Missense_Mutation_p.L120F|KIF27_ENST00000413982.1_Missense_Mutation_p.L729F	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	729					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTAATTGTAAGTTCTCTCATT	0.289																																																	0													113.0	104.0	107.0					9																	86502010		2201	4298	6499	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2185C>T	9.37:g.86502010G>A	ENSP00000297814:p.Leu729Phe	Somatic		WXS	SOLID	Phase_I	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429364	0.62844	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.27	3.35	0.38373	.	0.000000	0.45606	D	0.000345	T	0.69655	0.3135	M	0.69185	2.1	0.38306	D	0.943115	P;D;D	0.89917	0.94;1.0;0.999	P;D;D	0.91635	0.699;0.999;0.997	T	0.73681	-0.3906	10	0.66056	D	0.02	.	8.438	0.32799	0.1788:0.0:0.8212:0.0	.	729;729;729	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	F	729;729;729;120	ENSP00000297814:L729F;ENSP00000401688:L729F;ENSP00000333928:L729F;ENSP00000365525:L120F	ENSP00000297814:L729F	L	-	1	0	KIF27	85691830	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.890000	0.63178	2.086000	0.62901	0.305000	0.20034	CTT		0.289	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576	
KRTAP12-3	386683	hgsc.bcm.edu	37	21	46078132	46078132	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr21:46078132C>A	ENST00000397907.1	+	1	284	c.236C>A	c.(235-237)cCc>cAc	p.P79H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	79	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGCCAGCCCCCCTGCACCACT	0.642																																																	0													62.0	70.0	67.0					21																	46078132		2089	4211	6300	SO:0001583	missense	386683			AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.236C>A	21.37:g.46078132C>A	ENSP00000381005:p.Pro79His	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000397907.1	37	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	c	4.670	0.124563	0.08931	.	.	ENSG00000205439	ENST00000546091;ENST00000397907	T	0.06371	3.31	4.06	2.18	0.27775	.	.	.	.	.	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37776	-0.9691	8	0.40728	T	0.16	.	5.0833	0.14668	0.205:0.684:0.0:0.111	.	79	P60328	KR123_HUMAN	H	63;79	ENSP00000381005:P79H	ENSP00000381005:P79H	P	+	2	0	KRTAP12-3	44902560	0.000000	0.05858	0.357000	0.25798	0.011000	0.07611	0.309000	0.19332	0.899000	0.36444	-0.488000	0.04728	CCC		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			
LEO1	123169	hgsc.bcm.edu;ucsc.edu	37	15	52242167	52242167	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr15:52242167A>G	ENST00000299601.5	-	10	1696	c.1636T>C	c.(1636-1638)Tcc>Ccc	p.S546P	LEO1_ENST00000315141.5_Missense_Mutation_p.S486P	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	546					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTACGTATGGAAGCCCTCAAA	0.468																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													61.0	55.0	57.0					15																	52242167		2195	4293	6488	SO:0001583	missense	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1636T>C	15.37:g.52242167A>G	ENSP00000299601:p.Ser546Pro	Somatic		WXS	SOLID	Phase_I	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.874660	0.91664	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.38	5.38	0.77491	.	0.103529	0.64402	D	0.000002	T	0.68284	0.2984	L	0.58810	1.83	0.80722	D	1	P;D	0.58620	0.935;0.983	P;P	0.59288	0.786;0.855	T	0.66156	-0.5994	9	0.31617	T	0.26	.	15.7037	0.77560	1.0:0.0:0.0:0.0	.	486;546	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	P	546;524;486	.	ENSP00000299601:S546P	S	-	1	0	LEO1	50029459	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.129000	0.94430	2.171000	0.68590	0.533000	0.62120	TCC		0.468	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792	
LGALS9C	654346	hgsc.bcm.edu;ucsc.edu	37	17	18387268	18387268	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:18387268G>C	ENST00000328114.6	+	2	200	c.119G>C	c.(118-120)tGc>tCc	p.C40S	LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000581545.1_Missense_Mutation_p.C40S|LGALS9C_ENST00000583322.1_Missense_Mutation_p.C40S|LGALS9C_ENST00000584941.1_Missense_Mutation_p.C40S	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	40	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GTTCTCAGCTGCAGTGGAACC	0.547																																																	0													198.0	132.0	156.0					17																	18387268		2131	3751	5882	SO:0001583	missense	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.119G>C	17.37:g.18387268G>C	ENSP00000329932:p.Cys40Ser	Somatic		WXS	SOLID	Phase_I	B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	N	3.575	-0.086727	0.07097	.	.	ENSG00000171916	ENST00000328114	T	0.09163	3.01	2.77	-3.41	0.04839	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.238380	0.05452	N	0.549674	T	0.02418	0.0074	N	0.00801	-1.175	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	9	0.02654	T	1	.	5.4589	0.16606	0.0:0.2643:0.4886:0.2471	.	40	Q6DKI2	LEG9C_HUMAN	S	40	ENSP00000329932:C40S	ENSP00000329932:C40S	C	+	2	0	LGALS9C	18327993	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.264000	0.18497	-1.421000	0.02007	-1.123000	0.02005	TGC		0.547	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2		NM_001040078	
LINGO2	158038	hgsc.bcm.edu;ucsc.edu	37	9	27948987	27948987	+	Silent	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr9:27948987A>C	ENST00000379992.2	-	6	2132	c.1683T>G	c.(1681-1683)ctT>ctG	p.L561L	LINGO2_ENST00000308675.3_Silent_p.L561L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	561						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAAAAAGGAGAAGAAAACAAA	0.453																																																	0													90.0	83.0	85.0					9																	27948987		2203	4300	6503	SO:0001819	synonymous_variant	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1683T>G	9.37:g.27948987A>C		Somatic		WXS	SOLID	Phase_I	A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	CCDS6524.1																																																																																				0.453	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2		NM_152570	
LRCH2	57631	hgsc.bcm.edu	37	X	114357118	114357118	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:114357118T>C	ENST00000317135.8	-	20	2180	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	LRCH2_ENST00000538422.1_Missense_Mutation_p.D700G	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	717	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTACAAGCATCAAGAAAATT	0.328																																																	0													92.0	78.0	82.0					X																	114357118		1821	4071	5892	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2150A>G	X.37:g.114357118T>C	ENSP00000325091:p.Asp717Gly	Somatic		WXS	SOLID	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887328	0.72410	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95238	-3.65;-3.65	5.37	5.37	0.77165	Calponin homology domain (5);	0.052453	0.85682	D	0.000000	D	0.96228	0.8770	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.76494	0.999;0.041	D;B	0.85130	0.997;0.087	D	0.96607	0.9449	10	0.87932	D	0	-18.2758	13.1767	0.59630	0.0:0.0:0.0:1.0	.	717;700	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	G	717;196;700	ENSP00000325091:D717G;ENSP00000439366:D700G	ENSP00000325091:D717G	D	-	2	0	LRCH2	114263374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	1.993000	0.58246	0.441000	0.28932	GAT		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2		NM_020871	
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170027076	170027076	+	Missense_Mutation	SNP	C	C	A	rs71430659		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr2:170027076C>A	ENST00000263816.3	-	59	11650	c.11365G>T	c.(11365-11367)Gat>Tat	p.D3789Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3789	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCCGTTCATCTGAGTTGTCC	0.463																																																	0													180.0	154.0	163.0					2																	170027076		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11365G>T	2.37:g.170027076C>A	ENSP00000263816:p.Asp3789Tyr	Somatic		WXS	SOLID	Phase_I	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934495	0.92458	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.99232	-5.6	5.56	5.56	0.83823	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96522	0.9386	10	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	3789	P98164	LRP2_HUMAN	Y	3789;484	ENSP00000263816:D3789Y	ENSP00000263816:D3789Y	D	-	1	0	LRP2	169735322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.776000	0.95493	0.655000	0.94253	GAT		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40758835	40758835	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:40758835T>G	ENST00000298910.7	+	49	7431	c.7373T>G	c.(7372-7374)aTg>aGg	p.M2458R		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2458					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)				GTCAGAGTCATGATGACAGCA	0.348																																																	0													80.0	74.0	76.0					12																	40758835		2203	4299	6502	SO:0001583	missense	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.7373T>G	12.37:g.40758835T>G	ENSP00000298910:p.Met2458Arg	Somatic		WXS	SOLID	Phase_I	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644049	0.67244	.	.	ENSG00000188906	ENST00000298910	T	0.36520	1.25	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.074410	0.85682	D	0.000000	T	0.48768	0.1518	M	0.66939	2.045	0.53005	D	0.999965	D;D	0.56035	0.974;0.974	P;P	0.50754	0.649;0.649	T	0.54886	-0.8226	10	0.87932	D	0	.	15.2476	0.73517	0.0:0.0:0.0:1.0	.	2458;2458	Q17RV3;Q5S007	.;LRRK2_HUMAN	R	2458	ENSP00000298910:M2458R	ENSP00000298910:M2458R	M	+	2	0	LRRK2	39045102	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.768000	0.68858	1.996000	0.58369	0.477000	0.44152	ATG		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513	
MAGEC1	9947	hgsc.bcm.edu	37	X	140994462	140994462	+	Missense_Mutation	SNP	A	A	C	rs56675069	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chrX:140994462A>C	ENST00000285879.4	+	4	1558	c.1272A>C	c.(1270-1272)ttA>ttC	p.L424F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	424										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTATTTTACAGAGTTCTC	0.463										HNSCC(15;0.026)																																							0								C	PHE/LEU	6,3815		0,4,2,1625,561	101.0	111.0	108.0		1272		0.0	X	dbSNP_129	108	4,6712		0,0,4,2428,1856	no	missense	MAGEC1	NM_005462.4	22	0,4,6,4053,2417	CC,CA,C,AA,A		0.0596,0.157,0.0949	benign	424/1143	140994462	10,10527	2192	4288	6480	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1272A>C	X.37:g.140994462A>C	ENSP00000285879:p.Leu424Phe	Somatic		WXS	SOLID	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.306	-0.970781	0.02232	0.00157	5.96E-4	ENSG00000155495	ENST00000285879	T	0.02301	4.35	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.46091	-0.9216	8	0.36615	T	0.2	.	4.7536	0.13073	0.3553:0.6447:0.0:0.0	rs56675069	424	O60732	MAGC1_HUMAN	F	424	ENSP00000285879:L424F	ENSP00000285879:L424F	L	+	3	2	MAGEC1	140822128	0.003000	0.15002	0.005000	0.12908	0.005000	0.04900	-0.028000	0.12350	-2.064000	0.00888	-2.222000	0.00295	TTA		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MAGI2	9863	hgsc.bcm.edu;ucsc.edu	37	7	78119122	78119122	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:78119122C>T	ENST00000354212.4	-	6	1254	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	MAGI2_ENST00000535697.1_Missense_Mutation_p.R171Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R166Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R334Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R334Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	334	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTCGCAAGTCGTGGATCCAG	0.368																																																	0													189.0	191.0	190.0					7																	78119122		2203	4300	6503	SO:0001583	missense	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1001G>A	7.37:g.78119122C>T	ENSP00000346151:p.Arg334Gln	Somatic		WXS	SOLID	Phase_I	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797054	0.90453	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.18502	2.31;2.29;2.21;3.12;3.17	5.49	5.49	0.81192	WW/Rsp5/WWP (3);	0.000000	0.29293	U	0.012568	T	0.54191	0.1843	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.978	T	0.64786	-0.6325	10	0.87932	D	0	.	18.7237	0.91705	0.0:1.0:0.0:0.0	.	171;166;334;334	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	Q	334;334;334;334;166;171	ENSP00000405766:R334Q;ENSP00000346151:R334Q;ENSP00000428389:R334Q;ENSP00000441584:R166Q;ENSP00000441603:R171Q	ENSP00000346151:R334Q	R	-	2	0	MAGI2	77957058	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.021000	0.76425	2.732000	0.93576	0.557000	0.71058	CGA		0.368	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301	
MCOLN3	55283	hgsc.bcm.edu	37	1	85487844	85487844	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:85487844G>T	ENST00000370589.2	-	11	1281	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P354H	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	410					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GATGACATTGGGCAGCGCTGC	0.473																																																	0													88.0	85.0	86.0					1																	85487844		2203	4300	6503	SO:0001583	missense	55283			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1229C>A	1.37:g.85487844G>T	ENSP00000359621:p.Pro410His	Somatic		WXS	SOLID	Phase_I	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362884	0.82353	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.70282	-0.47;-0.47	5.52	5.52	0.82312	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88976	0.3404	10	0.72032	D	0.01	-24.3128	19.4397	0.94813	0.0:0.0:1.0:0.0	.	354;410	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	H	410;410;354;354	ENSP00000359621:P410H;ENSP00000342698:P354H	ENSP00000304843:P410H	P	-	2	0	MCOLN3	85260432	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.415000	0.97375	2.578000	0.87016	0.563000	0.77884	CCC		0.473	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2		NM_018298	
MGAM	8972	hgsc.bcm.edu;ucsc.edu	37	7	141752215	141752215	+	Missense_Mutation	SNP	A	A	C	rs386718585|rs116536012	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:141752215A>C	ENST00000549489.2	+	25	3022	c.2927A>C	c.(2926-2928)gAa>gCa	p.E976A	MGAM_ENST00000475668.2_Missense_Mutation_p.E976A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	976	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E976A(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTTCTGCCGAAAACTGCACT	0.458													a|||	322	0.0642971	0.1339	0.0706	5008	,	,		18996	0.0198		0.0398	False		,,,				2504	0.0368																1	Substitution - Missense(1)	stomach(1)						A	ALA/GLU	347,3559		20,307,1626	74.0	68.0	70.0		2927	0.9	0.0	7	dbSNP_132	70	183,8101		4,175,3963	no	missense	MGAM	NM_004668.2	107	24,482,5589	CC,CA,AA		2.2091,8.8838,4.3478	benign	976/1858	141752215	530,11660	1953	4142	6095	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2927A>C	7.37:g.141752215A>C	ENSP00000447378:p.Glu976Ala	Somatic		WXS	SOLID	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	111	0.050824175824175824	55	0.11178861788617886	17	0.04696132596685083	16	0.027972027972027972	23	0.030343007915567283	A	10.88	1.476265	0.26511	0.088838	0.022091	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.13778	2.56	4.64	0.889	0.19212	P-type trefoil (4);	0.964184	0.08439	N	0.945705	T	0.00178	0.0005	N	0.11313	0.125	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41270	-0.9518	10	0.30854	T	0.27	.	13.2332	0.59955	0.2851:0.7149:0.0:0.0	.	976	O43451	MGA_HUMAN	A	976;976;853	ENSP00000447378:E976A	ENSP00000316431:E853A	E	+	2	0	MGAM	141398684	0.044000	0.20184	0.001000	0.08648	0.187000	0.23431	0.456000	0.21859	-0.095000	0.12351	0.377000	0.23210	GAA		0.458	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			
KMT2D	8085	hgsc.bcm.edu	37	12	49442448	49442448	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:49442448T>C	ENST00000301067.7	-	13	4124	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1375					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTACCTGCATTAGGACAAATT	0.463																																																	0													244.0	245.0	245.0					12																	49442448		2012	4175	6187	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4125A>G	12.37:g.49442448T>C		Somatic		WXS	SOLID	Phase_I	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.463	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MPZL3	196264	hgsc.bcm.edu	37	11	118106270	118106270	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:118106270A>G	ENST00000278949.4	-	4	541	c.486T>C	c.(484-486)ctT>ctC	p.L162L	MPZL3_ENST00000527472.1_Silent_p.L150L|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	162					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAGGATGGAAAGAAGGGCCA	0.542																																																	0													116.0	102.0	107.0					11																	118106270		2200	4296	6496	SO:0001819	synonymous_variant	196264			AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.486T>C	11.37:g.118106270A>G		Somatic		WXS	SOLID	Phase_I	A8K025|B4DLD5|B4E2I8	Silent	SNP	ENST00000278949.4	37	CCDS8392.1																																																																																				0.542	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1		NM_198275	
MRPS36	92259	hgsc.bcm.edu;ucsc.edu	37	5	68522165	68522165	+	Splice_Site	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:68522165G>A	ENST00000256441.4	+	2	113	c.43G>A	c.(43-45)Gta>Ata	p.V15I	MRPS36_ENST00000512880.1_Intron|MRPS36_ENST00000507022.1_Intron|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	15					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		TTTCATTTAGGTAGTCAAACC	0.274																																																	0													86.0	85.0	86.0					5																	68522165		2203	4295	6498	SO:0001630	splice_region_variant	92259				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.43-1G>A	5.37:g.68522165G>A		Somatic		WXS	SOLID	Phase_I	Q9H2H4	Missense_Mutation	SNP	ENST00000256441.4	37	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866107	0.51588	.	.	ENSG00000134056	ENST00000256441	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.66665	0.2812	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	D	0.75484	0.986	T	0.63037	-0.6726	8	.	.	.	-0.0248	15.7145	0.77658	0.0:0.0:1.0:0.0	.	15	P82909	RT36_HUMAN	I	15	.	.	V	+	1	0	MRPS36	68557921	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	5.322000	0.65852	2.685000	0.91497	0.650000	0.86243	GTA		0.274	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1		NM_033281	Missense_Mutation
MSI1	4440	hgsc.bcm.edu;ucsc.edu	37	12	120805824	120805824	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:120805824A>C	ENST00000257552.2	-	4	342	c.254T>G	c.(253-255)cTc>cGc	p.L85R	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGAGTCGAGCTCGTGCCG	0.647																																																	0													40.0	33.0	35.0					12																	120805824		2202	4299	6501	SO:0001583	missense	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.254T>G	12.37:g.120805824A>C	ENSP00000257552:p.Leu85Arg	Somatic		WXS	SOLID	Phase_I	Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.30|14.30	2.494599|2.494599	0.44352|0.44352	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000257552|ENST00000546985	D|.	0.86366|.	-2.11|.	3.24|3.24	3.24|3.24	0.37175|0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.103590|.	0.38778|.	N|.	0.001561|.	D|D	0.86171|0.86171	0.5869|0.5869	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	B|.	0.33477|.	0.413|.	P|.	0.44477|.	0.451|.	D|D	0.89592|0.89592	0.3828|0.3828	10|5	0.66056|.	D|.	0.02|.	.|.	11.6848|11.6848	0.51479|0.51479	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	85|.	O43347|.	MSI1H_HUMAN|.	R|A	85|17	ENSP00000257552:L85R|.	ENSP00000257552:L85R|.	L|S	-|-	2|1	0|0	MSI1|MSI1	119290207|119290207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	8.672000|8.672000	0.91181|0.91181	1.476000|1.476000	0.48215|0.48215	0.254000|0.254000	0.18369|0.18369	CTC|TCG		0.647	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1		NM_002442	
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9074004	9074004	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:9074004G>T	ENST00000397910.4	-	3	13645	c.13442C>A	c.(13441-13443)tCt>tAt	p.S4481Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4483	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTCGCAGAAACAGGAGA	0.468																																																	0													137.0	130.0	132.0					19																	9074004		2023	4174	6197	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13442C>A	19.37:g.9074004G>T	ENSP00000381008:p.Ser4481Tyr	Somatic		WXS	SOLID	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.796	-0.250300	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.22	-1.64	0.08318	.	.	.	.	.	T	0.25082	0.0609	L	0.29908	0.895	.	.	.	D	0.53462	0.96	P	0.56865	0.808	T	0.28902	-1.0029	8	0.87932	D	0	.	2.7296	0.05223	0.3419:0.2547:0.4033:0.0	.	4481	B5ME49	.	Y	4481	ENSP00000381008:S4481Y	ENSP00000381008:S4481Y	S	-	2	0	MUC16	8935004	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.741000	0.26202	-0.283000	0.09115	0.313000	0.20887	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	hgsc.bcm.edu	37	3	195510762	195510762	+	Silent	SNP	G	G	A	rs2911273	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr3:195510762G>A	ENST00000463781.3	-	2	8148	c.7689C>T	c.(7687-7689)gtC>gtT	p.V2563V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V2563V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V2563V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGTGTCGGTGACAGGAAGAG	0.582													.|||	2626	0.524361	0.4455	0.4481	5008	,	,		10641	0.7252		0.5129	False		,,,				2504	0.4898																2	Substitution - coding silent(2)	stomach(2)											48.0	42.0	44.0					3																	195510762		666	1588	2254	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7689C>T	3.37:g.195510762G>A		Somatic		WXS	SOLID	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NEURL4	84461	hgsc.bcm.edu	37	17	7224230	7224230	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:7224230C>T	ENST00000399464.2	-	21	3388	c.3373G>A	c.(3373-3375)Gtg>Atg	p.V1125M	NEURL4_ENST00000315614.7_Missense_Mutation_p.V1123M|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.V1101M|NEURL4_ENST00000574120.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1125						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATAATACCCACTTCATTCTGG	0.547																																																	0													122.0	124.0	123.0					17																	7224230		2007	4177	6184	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3373G>A	17.37:g.7224230C>T	ENSP00000382390:p.Val1125Met	Somatic		WXS	SOLID	Phase_I	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	5.408	0.260405	0.10239	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32023	1.47;1.47	4.6	2.62	0.31277	.	0.684102	0.14287	N	0.329128	T	0.16085	0.0387	N	0.14661	0.345	0.19575	N	0.999964	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.34782	T	0.22	-6.4703	6.095	0.20015	0.0:0.6906:0.0:0.3094	.	1123;1125	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	M	1123;1125	ENSP00000319826:V1123M;ENSP00000382390:V1125M	ENSP00000319826:V1123M	V	-	1	0	NEURL4	7164954	1.000000	0.71417	0.852000	0.33557	0.318000	0.28184	0.689000	0.25437	0.566000	0.29273	0.462000	0.41574	GTG		0.547	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442	
OR2T34	127068	hgsc.bcm.edu	37	1	248737664	248737664	+	Missense_Mutation	SNP	C	C	T	rs147489167	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:248737664C>T	ENST00000328782.2	-	1	416	c.395G>A	c.(394-396)tGc>tAc	p.C132Y		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			GAGAGGTCTGCAAACAGCAGC	0.562																																																	0													13.0	15.0	14.0					1																	248737664		2167	4277	6444	SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.395G>A	1.37:g.248737664C>T	ENSP00000330904:p.Cys132Tyr	Somatic		WXS	SOLID	Phase_I	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	346	0.15842490842490842	94	0.1910569105691057	45	0.12430939226519337	111	0.19405594405594406	96	0.1266490765171504	.	15.43	2.830281	0.50845	.	.	ENSG00000183310	ENST00000328782	T	0.02158	4.42	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	M	0.84773	2.715	0.34880	P	0.255475	D	0.89917	1.0	D	0.91635	0.999	T	0.13072	-1.0523	8	0.87932	D	0	.	11.5675	0.50813	0.0:1.0:0.0:0.0	.	132	Q8NGX1	O2T34_HUMAN	Y	132	ENSP00000330904:C132Y	ENSP00000330904:C132Y	C	-	2	0	OR2T34	246804287	0.998000	0.40836	0.002000	0.10522	0.083000	0.17756	4.201000	0.58439	1.154000	0.42482	0.389000	0.25775	TGC		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1		NM_001001821	
PCGF2	7703	hgsc.bcm.edu	37	17	36895856	36895856	+	Silent	SNP	C	C	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr17:36895856C>T	ENST00000580830.1	-	5	893	c.192G>A	c.(190-192)cgG>cgA	p.R64R	PCGF2_ENST00000360797.2_Silent_p.R64R|PCGF2_ENST00000585100.1_Silent_p.R64R|PCGF2_ENST00000579882.1_Silent_p.R64R|PCGF2_ENST00000578109.1_Silent_p.R10R|PCGF2_ENST00000581345.1_Silent_p.R64R			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCAGCAGCGGCCGGGTTTTAT	0.617																																																	0													142.0	114.0	124.0					17																	36895856		2203	4300	6503	SO:0001819	synonymous_variant	7703			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.192G>A	17.37:g.36895856C>T		Somatic		WXS	SOLID	Phase_I	A6NGD8	Silent	SNP	ENST00000580830.1	37	CCDS32638.1																																																																																				0.617	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2		NM_007144	
PDHX	8050	hgsc.bcm.edu;ucsc.edu	37	11	35016578	35016578	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr11:35016578A>C	ENST00000227868.4	+	11	1449	c.1365A>C	c.(1363-1365)gaA>gaC	p.E455D	PDHX_ENST00000477173.3_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.E440D|PDHX_ENST00000430469.2_Missense_Mutation_p.E228D			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	455					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTGAGGATGAAGAGGGAAATG	0.498																																																	0													129.0	121.0	124.0					11																	35016578		2202	4298	6500	SO:0001583	missense	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1365A>C	11.37:g.35016578A>C	ENSP00000227868:p.Glu455Asp	Somatic		WXS	SOLID	Phase_I	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	CCDS7896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.35|12.35	1.911262|1.911262	0.33721|0.33721	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000448838;ENST00000227868;ENST00000430469|ENST00000526309	T;T;T|.	0.47528|.	0.84;0.84;0.84|.	6.04|6.04	3.73|3.73	0.42828|0.42828	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);|.	0.089300|.	0.85682|.	D|.	0.000000|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.03016|0.03016	-0.435|-0.435	0.42662|0.42662	D|D	0.993487|0.993487	B;B;B|.	0.19935|.	0.001;0.04;0.005|.	B;B;B|.	0.23419|.	0.007;0.046;0.02|.	T|T	0.04400|0.04400	-1.0954|-1.0954	10|5	0.34782|.	T|.	0.22|.	-23.7515|-23.7515	5.75|5.75	0.18142|0.18142	0.7154:0.1433:0.1413:0.0|0.7154:0.1433:0.1413:0.0	.|.	228;440;455|.	E9PBP7;E9PB14;O00330|.	.;.;ODPX_HUMAN|.	D|T	440;455;228|143	ENSP00000389404:E440D;ENSP00000227868:E455D;ENSP00000415695:E228D|.	ENSP00000227868:E455D|.	E|K	+|+	3|2	2|0	PDHX|PDHX	34973154|34973154	0.960000|0.960000	0.32886|0.32886	1.000000|1.000000	0.80357|0.80357	0.705000|0.705000	0.40729|0.40729	0.673000|0.673000	0.25203|0.25203	0.527000|0.527000	0.28560|0.28560	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.498	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1		NM_003477	
GSAP	54103	hgsc.bcm.edu	37	7	76955572	76955572	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:76955572A>T	ENST00000257626.7	-	23	1862	c.1784T>A	c.(1783-1785)cTc>cAc	p.L595H	GSAP_ENST00000441833.2_5'Flank|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	595					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CTCCTGCAGGAGGGGTGTTAA	0.522																																																	0													81.0	82.0	81.0					7																	76955572		1863	4097	5960	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1784T>A	7.37:g.76955572A>T	ENSP00000257626:p.Leu595His	Somatic		WXS	SOLID	Phase_I	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673707	0.67928	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.53206	1.39;0.63	5.54	5.54	0.83059	.	0.088595	0.47455	U	0.000239	T	0.64427	0.2597	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.67473	-0.5662	10	0.72032	D	0.01	.	11.9958	0.53201	1.0:0.0:0.0:0.0	.	595	A4D1B5	GSAP_HUMAN	H	595;80	ENSP00000257626:L595H;ENSP00000396230:L80H	ENSP00000257626:L595H	L	-	2	0	PION	76793508	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.853000	0.62911	2.326000	0.78906	0.533000	0.62120	CTC		0.522	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439	
PIWIL3	440822	hgsc.bcm.edu	37	22	25145728	25145728	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr22:25145728C>A	ENST00000332271.5	-	10	1564	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.W274L|PIWIL3_ENST00000533313.1_Missense_Mutation_p.W274L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	383	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCCCTTTTTCCATCTGCCCTG	0.473																																																	0													152.0	119.0	130.0					22																	25145728		2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1148G>T	22.37:g.25145728C>A	ENSP00000330031:p.Trp383Leu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019430	0.08006	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13307	2.6;2.6;2.6	2.29	2.29	0.28610	Argonaute/Dicer protein, PAZ (4);	0.258179	0.22912	U	0.054126	T	0.14527	0.0351	L	0.28115	0.83	0.28204	N	0.927228	P;B;B	0.38788	0.647;0.012;0.29	P;B;B	0.48873	0.593;0.009;0.356	T	0.07790	-1.0754	10	0.33141	T	0.24	-11.1612	10.673	0.45770	0.0:1.0:0.0:0.0	.	274;383;383	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	L	383;274;274	ENSP00000330031:W383L;ENSP00000431843:W274L;ENSP00000435718:W274L	ENSP00000330031:W383L	W	-	2	0	PIWIL3	23475728	0.969000	0.33509	0.805000	0.32314	0.293000	0.27360	1.203000	0.32284	1.610000	0.50200	0.313000	0.20887	TGG		0.473	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2		NM_001008496	
PLEKHG7	440107	hgsc.bcm.edu	37	12	93147906	93147906	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr12:93147906C>G	ENST00000344636.3	+	6	540	c.356C>G	c.(355-357)cCa>cGa	p.P119R		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	119	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTCCACGTGCCAGAGCTGCTA	0.502																																																	0													104.0	92.0	96.0					12																	93147906		2203	4300	6503	SO:0001583	missense	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.356C>G	12.37:g.93147906C>G	ENSP00000344961:p.Pro119Arg	Somatic		WXS	SOLID	Phase_I	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661593	0.14645	.	.	ENSG00000187510	ENST00000344636	T	0.62105	0.05	5.32	4.43	0.53597	Dbl homology (DH) domain (4);	0.410373	0.28544	N	0.014974	T	0.46718	0.1407	N	0.25890	0.77	0.28372	N	0.919944	B	0.09022	0.002	B	0.12156	0.007	T	0.27673	-1.0067	10	0.13470	T	0.59	-5.6757	13.2001	0.59763	0.0:0.9222:0.0:0.0778	.	119	Q6ZR37	PKHG7_HUMAN	R	119	ENSP00000344961:P119R	ENSP00000344961:P119R	P	+	2	0	PLEKHG7	91672037	0.084000	0.21492	0.990000	0.47175	0.461000	0.32589	3.457000	0.53007	1.240000	0.43803	0.491000	0.48974	CCA		0.502	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1		NM_001004330	
POTED	317754	hgsc.bcm.edu	37	21	15013714	15013714	+	Missense_Mutation	SNP	G	G	A	rs202212566	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr21:15013714G>A	ENST00000299443.5	+	11	1634	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	528						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TGAAAACAGCGTGTTGCAGGA	0.353													g|||	159	0.0317492	0.0507	0.0086	5008	,	,		6611	0.0556		0.0149	False		,,,				2504	0.0153																0								A	MET/VAL	47,1717		2,43,837	32.0	41.0	39.0		1582	0.9	0.0	21		39	46,6172		1,44,3064	no	missense	POTED	NM_174981.3	21	3,87,3901	AA,AG,GG		0.7398,2.6644,1.1651	benign	528/585	15013714	93,7889	882	3109	3991	SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1582G>A	21.37:g.15013714G>A	ENSP00000299443:p.Val528Met	Somatic		WXS	SOLID	Phase_I	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.603963	0.00123	0.026644	0.007398	ENSG00000166351	ENST00000299443	T	0.12039	2.72	2.1	0.869	0.19096	.	.	.	.	.	T	0.00815	0.0027	N	0.00335	-1.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41502	-0.9505	9	0.02654	T	1	.	6.9617	0.24601	0.8448:0.0:0.1552:0.0	.	528	Q86YR6	POTED_HUMAN	M	528	ENSP00000299443:V528M	ENSP00000299443:V528M	V	+	1	0	POTED	13935585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.773000	0.26661	-0.311000	0.08754	-2.570000	0.00171	GTG		0.353	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1		NM_174981	
PTGS2	5743	hgsc.bcm.edu;ucsc.edu	37	1	186646028	186646028	+	Silent	SNP	G	G	A	rs200000802	byFrequency	TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:186646028G>A	ENST00000367468.5	-	6	796	c.660C>T	c.(658-660)taC>taT	p.Y220Y	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	220					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAGTTTCACCGTAAATATGAT	0.308													G|||	2	0.000399361	0.0	0.0029	5008	,	,		12800	0.0		0.0	False		,,,				2504	0.0																0													113.0	127.0	122.0					1																	186646028		2203	4299	6502	SO:0001819	synonymous_variant	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.660C>T	1.37:g.186646028G>A		Somatic		WXS	SOLID	Phase_I	A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																				0.308	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2		NM_000963	
PROX1	5629	hgsc.bcm.edu	37	1	214170598	214170598	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:214170598A>T	ENST00000366958.4	+	2	1328	c.720A>T	c.(718-720)aaA>aaT	p.K240N	PROX1_ENST00000498508.2_Missense_Mutation_p.K240N|PROX1_ENST00000435016.1_Missense_Mutation_p.K240N|PROX1_ENST00000261454.4_Missense_Mutation_p.K240N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	240					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACAGCTGAAACAGCAGCTGG	0.507																																																	0													41.0	44.0	43.0					1																	214170598		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.720A>T	1.37:g.214170598A>T	ENSP00000355925:p.Lys240Asn	Somatic		WXS	SOLID	Phase_I	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867395	0.51588	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.93	-7.51	0.01346	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.69823	2.125	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	T	0.62296	-0.6884	10	0.87932	D	0	-4.9014	19.5311	0.95230	0.3571:0.0:0.6429:0.0	.	240	Q92786	PROX1_HUMAN	N	240	ENSP00000420283:K240N;ENSP00000355925:K240N;ENSP00000400694:K240N;ENSP00000261454:K240N	ENSP00000261454:K240N	K	+	3	2	PROX1	212237221	0.827000	0.29292	0.739000	0.30968	0.995000	0.86356	0.052000	0.14163	-1.602000	0.01599	-0.290000	0.09829	AAA		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		NM_002763	
RALGAPB	57148	hgsc.bcm.edu;ucsc.edu	37	20	37146211	37146211	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr20:37146211C>G	ENST00000262879.6	+	8	1398	c.1114C>G	c.(1114-1116)Caa>Gaa	p.Q372E	RALGAPB_ENST00000397042.3_Missense_Mutation_p.Q372E|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Q150E|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Q372E|RALGAPB_ENST00000537204.1_Missense_Mutation_p.Q372E|MIR548O2_ENST00000583129.1_RNA			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	372					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGTATGCCTCAAAGTGCTGC	0.438																																																	0													142.0	133.0	136.0					20																	37146211		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1114C>G	20.37:g.37146211C>G	ENSP00000262879:p.Gln372Glu	Somatic		WXS	SOLID	Phase_I	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556711	0.13436	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.07	5.07	0.68467	.	0.053488	0.85682	D	0.000000	T	0.42585	0.1209	N	0.22421	0.69	0.49389	D	0.999788	B;B;B;B;B	0.18863	0.031;0.009;0.017;0.009;0.009	B;B;B;B;B	0.16722	0.016;0.009;0.016;0.009;0.009	T	0.34229	-0.9837	9	0.07175	T	0.84	.	17.8087	0.88609	0.0:1.0:0.0:0.0	.	372;200;372;372;372	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	E	372;372;372;150;372;372;200	.	ENSP00000262879:Q372E	Q	+	1	0	RALGAPB	36579625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.955000	0.76007	2.515000	0.84797	0.555000	0.69702	CAA		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336	
RIN3	79890	hgsc.bcm.edu	37	14	93118739	93118739	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:93118739C>G	ENST00000216487.7	+	6	1504	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	449	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CATGCCAGAGCTGCCCAGGAC	0.632																																																	0													96.0	116.0	109.0					14																	93118739		2203	4300	6503	SO:0001583	missense	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1345C>G	14.37:g.93118739C>G	ENSP00000216487:p.Leu449Val	Somatic		WXS	SOLID	Phase_I	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.419695	0.00188	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.05786	3.39	4.22	3.25	0.37280	.	1.253670	0.05566	N	0.570223	T	0.05640	0.0148	N	0.25647	0.755	0.09310	N	0.999992	P;B;B;P	0.46220	0.874;0.001;0.001;0.801	B;B;B;B	0.41723	0.365;0.002;0.002;0.201	T	0.32929	-0.9888	10	0.32370	T	0.25	-1.4713	3.6432	0.08174	0.1456:0.477:0.2782:0.0991	.	449;495;374;449	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	V	449;373	ENSP00000216487:L449V	ENSP00000216487:L449V	L	+	1	2	RIN3	92188492	0.940000	0.31905	0.005000	0.12908	0.061000	0.15899	2.129000	0.42055	0.652000	0.30806	0.313000	0.20887	CTG		0.632	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			
RABL2B	11158	hgsc.bcm.edu	37	22	51214191	51214191	+	Intron	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr22:51214191G>A	ENST00000395598.3	-	5	509				RABL2B_ENST00000395595.3_Intron|RABL2B_ENST00000395590.1_Intron|RABL2B_ENST00000435118.1_Intron|RABL2B_ENST00000354869.3_Intron|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395593.3_Intron	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCCACCGTCTCGTACCA	0.612																																					GBM(148;358 1894 4987 13698 40400)												0													128.0	92.0	105.0					22																	51214191		2202	4298	6500	SO:0001627	intron_variant	284942				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.297+8C>T	22.37:g.51214191G>A		Somatic		WXS	SOLID	Phase_I	Q5TZT8|Q96C33	RNA	SNP	ENST00000395598.3	37	CCDS14102.1																																																																																				0.612	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1		NM_001003789	
SERAC1	84947	hgsc.bcm.edu	37	6	158565367	158565367	+	Silent	SNP	A	A	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:158565367A>G	ENST00000367104.3	-	7	704	c.573T>C	c.(571-573)ttT>ttC	p.F191F	SERAC1_ENST00000367102.2_Silent_p.F191F|SERAC1_ENST00000367101.1_Silent_p.F191F	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	191					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTAGGAGAAAAAAGCGAAGAT	0.333																																																	0													79.0	82.0	81.0					6																	158565367		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.573T>C	6.37:g.158565367A>G		Somatic		WXS	SOLID	Phase_I	Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.333	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861	
SERPINA12	145264	hgsc.bcm.edu;ucsc.edu	37	14	94964183	94964183	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:94964183T>G	ENST00000341228.2	-	3	1347	c.552A>C	c.(550-552)aaA>aaC	p.K184N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K184N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	184					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCCCATGGGTTTTTTGACTGA	0.398																																																	0													92.0	88.0	89.0					14																	94964183		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.552A>C	14.37:g.94964183T>G	ENSP00000342109:p.Lys184Asn	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062029	0.36373	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85411	-1.98;-1.98	5.49	-0.758	0.11049	Serpin domain (3);	0.095661	0.45361	D	0.000365	D	0.86197	0.5875	M	0.77820	2.39	0.36413	D	0.863876	D	0.52996	0.957	P	0.50754	0.649	D	0.86427	0.1758	10	0.72032	D	0.01	.	9.5369	0.39229	0.0:0.3852:0.0:0.6148	.	184	Q8IW75	SPA12_HUMAN	N	184	ENSP00000451738:K184N;ENSP00000342109:K184N	ENSP00000342109:K184N	K	-	3	2	SERPINA12	94033936	1.000000	0.71417	0.554000	0.28268	0.076000	0.17211	1.101000	0.31037	-0.135000	0.11495	0.533000	0.62120	AAA		0.398	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850	
SLC4A9	83697	hgsc.bcm.edu	37	5	139747071	139747071	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:139747071G>A	ENST00000230993.6	+	15	2187	c.2152G>A	c.(2152-2154)Gca>Aca	p.A718T	SLC4A9_ENST00000432095.2_Missense_Mutation_p.A680T|SLC4A9_ENST00000507527.1_Missense_Mutation_p.A718T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.A694T|SLC4A9_ENST00000506545.1_Missense_Mutation_p.A631T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	718	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGTGTGGCAGCTGCCCT	0.582																																																	0													26.0	32.0	30.0					5																	139747071		2100	4237	6337	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2152G>A	5.37:g.139747071G>A	ENSP00000230993:p.Ala718Thr	Somatic		WXS	SOLID	Phase_I	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286465	0.80803	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.02	5.02	0.67125	Bicarbonate transporter, C-terminal (1);	0.283439	0.30126	N	0.010345	D	0.90998	0.7169	M	0.91920	3.255	0.37566	D	0.919243	P;D;D;D	0.71674	0.722;0.998;0.998;0.998	B;D;D;D	0.68765	0.419;0.96;0.934;0.934	D	0.93635	0.6959	10	0.87932	D	0	.	14.5949	0.68397	0.0:0.2635:0.7365:0.0	.	631;718;680;694	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	T	718;694;680;631;718	ENSP00000230993:A718T;ENSP00000424424:A694T;ENSP00000410056:A680T;ENSP00000422855:A631T;ENSP00000427661:A718T	ENSP00000230993:A718T	A	+	1	0	SLC4A9	139727255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.417000	0.66423	2.779000	0.95612	0.655000	0.94253	GCA		0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1		NM_031467	
SMARCA4	6597	hgsc.bcm.edu	37	19	11145750	11145750	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:11145750C>A	ENST00000429416.3	+	30	4393	c.4112C>A	c.(4111-4113)tCc>tAc	p.S1371Y	SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1371Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1371Y|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1338Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1338Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1371					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCGTGGCTCCCGCCACCGC	0.647			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											44.0	36.0	39.0					19																	11145750		2203	4299	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4112C>A	19.37:g.11145750C>A	ENSP00000395654:p.Ser1371Tyr	Somatic		WXS	SOLID	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715526	0.89112	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87491	-2.24;-2.19;-2.24;-2.26;-2.26;-2.26;-2.26	4.59	4.59	0.56863	.	0.082414	0.64402	D	0.000020	D	0.93654	0.7973	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;P;D	0.89917	0.994;0.988;0.988;0.994;1.0;0.939;0.988	D;P;P;D;D;P;D	0.87578	0.921;0.885;0.885;0.921;0.998;0.535;0.921	D	0.94616	0.7809	10	0.87932	D	0	-32.9733	16.3525	0.83220	0.0:1.0:0.0:0.0	.	1338;1338;1338;1371;1338;558;1371	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Y	1371;1371;1402;1371;1338;1338;1338;1338	ENSP00000395654:S1371Y;ENSP00000350720:S1371Y;ENSP00000343896:S1371Y;ENSP00000445036:S1338Y;ENSP00000392837:S1338Y;ENSP00000397783:S1338Y;ENSP00000414727:S1338Y	ENSP00000343896:S1371Y	S	+	2	0	SMARCA4	11006750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.546000	0.82137	2.385000	0.81259	0.558000	0.71614	TCC		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
SSX2IP	117178	hgsc.bcm.edu;ucsc.edu	37	1	85117601	85117601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:85117601G>C	ENST00000342203.3	-	12	1732	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	SSX2IP_ENST00000370612.4_Nonsense_Mutation_p.S490*|SSX2IP_ENST00000605755.1_Nonsense_Mutation_p.S463*|SSX2IP_ENST00000603677.1_Nonsense_Mutation_p.S9*|SSX2IP_ENST00000437941.2_Nonsense_Mutation_p.S463*	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	490					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CACATTTTCTGAGTTCTGGTG	0.323																																																	0													127.0	121.0	123.0					1																	85117601		2203	4300	6503	SO:0001587	stop_gained	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1469C>G	1.37:g.85117601G>C	ENSP00000340279:p.Ser490*	Somatic		WXS	SOLID	Phase_I	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Nonsense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	40	8.202105	0.98704	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000370612	.	.	.	5.82	4.9	0.64082	.	0.353995	0.29940	N	0.010810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7045	0.40207	0.1521:0.0:0.8479:0.0	.	.	.	.	X	490;463;490	.	ENSP00000340279:S490X	S	-	2	0	SSX2IP	84890189	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.040000	0.49799	2.753000	0.94483	0.557000	0.71058	TCA		0.323	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1		NM_014021	
STARD3NL	83930	hgsc.bcm.edu;ucsc.edu	37	7	38256830	38256830	+	Silent	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr7:38256830T>A	ENST00000009041.7	+	6	734	c.477T>A	c.(475-477)atT>atA	p.I159I	STARD3NL_ENST00000544203.1_Silent_p.I152I|STARD3NL_ENST00000434197.1_Silent_p.I141I|STARD3NL_ENST00000396013.1_Silent_p.I159I	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	159	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGCCCATCATTTCATTCATCC	0.438																																																	0													225.0	207.0	213.0					7																	38256830		2203	4300	6503	SO:0001819	synonymous_variant	83930			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.477T>A	7.37:g.38256830T>A		Somatic		WXS	SOLID	Phase_I	A4D1X0	Silent	SNP	ENST00000009041.7	37	CCDS5455.1																																																																																				0.438	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			
STAU2	27067	hgsc.bcm.edu	37	8	74515976	74515976	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr8:74515976T>C	ENST00000521451.1	-	5	730	c.354A>G	c.(352-354)cgA>cgG	p.R118R	STAU2_ENST00000521210.1_Silent_p.R234R|STAU2_ENST00000524300.1_Silent_p.R338R|STAU2_ENST00000355780.5_Silent_p.R306R|STAU2_ENST00000522695.1_Silent_p.R306R|STAU2_ENST00000523558.1_Silent_p.R166R|STAU2_ENST00000517542.1_Silent_p.R300R|STAU2_ENST00000519961.1_Silent_p.R338R|STAU2_ENST00000521727.1_Silent_p.R318R|STAU2_ENST00000522509.1_Silent_p.R306R			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	338	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R306R(1)|p.R234R(1)|p.R338R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCACAAATTCTCGACGTCGAG	0.428																																																	3	Substitution - coding silent(3)	lung(3)											78.0	77.0	78.0					8																	74515976		2203	4300	6503	SO:0001819	synonymous_variant	27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.354A>G	8.37:g.74515976T>C		Somatic		WXS	SOLID	Phase_I	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000521451.1	37																																																																																					0.428	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4		NM_001164380	
TDRD5	163589	hgsc.bcm.edu;ucsc.edu	37	1	179561765	179561765	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr1:179561765G>T	ENST00000367614.1	+	2	374	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TDRD5_ENST00000294848.8_Missense_Mutation_p.E5D|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000444136.1_Missense_Mutation_p.E5D	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	5					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTGAACAAGAGCGTATACAGG	0.443																																																	0													136.0	130.0	132.0					1																	179561765		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.15G>T	1.37:g.179561765G>T	ENSP00000356586:p.Glu5Asp	Somatic		WXS	SOLID	Phase_I	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321593	0.41096	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.14391	2.51;2.51;2.67	5.91	2.01	0.26516	.	0.121167	0.53938	D	0.000044	T	0.06645	0.0170	N	0.19112	0.55	0.35362	D	0.788326	P;P	0.44521	0.837;0.7	B;B	0.36244	0.22;0.081	T	0.45264	-0.9273	10	0.20046	T	0.44	-25.7807	8.742	0.34562	0.3604:0.0:0.6396:0.0	.	5;5	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	D	5	ENSP00000356586:E5D;ENSP00000294848:E5D;ENSP00000406052:E5D	ENSP00000294848:E5D	E	+	3	2	TDRD5	177828388	0.278000	0.24230	0.866000	0.34008	0.843000	0.47879	0.651000	0.24873	0.124000	0.18369	0.655000	0.94253	GAG		0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1		NM_173533	
TGM1	7051	hgsc.bcm.edu	37	14	24724346	24724346	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:24724346C>G	ENST00000206765.6	-	12	1882	c.1759G>C	c.(1759-1761)Gac>Cac	p.D587H	TGM1_ENST00000544573.1_Missense_Mutation_p.D145H	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	587					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCACCGCGTCCTGTGCCTCC	0.592																																																	0													93.0	76.0	82.0					14																	24724346		2203	4300	6503	SO:0001583	missense	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1759G>C	14.37:g.24724346C>G	ENSP00000206765:p.Asp587His	Somatic		WXS	SOLID	Phase_I	B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840742	0.51057	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.69175	-0.38;-0.38	5.18	4.29	0.51040	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.746413	0.13156	N	0.409429	T	0.73621	0.3610	L	0.59436	1.845	0.44104	D	0.996876	P	0.43542	0.81	P	0.52066	0.689	T	0.73522	-0.3956	10	0.66056	D	0.02	-38.449	12.9133	0.58192	0.0:0.92:0.0:0.08	.	587	P22735	TGM1_HUMAN	H	587;145	ENSP00000206765:D587H;ENSP00000439446:D145H	ENSP00000206765:D587H	D	-	1	0	TGM1	23794186	0.989000	0.36119	0.961000	0.40146	0.115000	0.19883	6.795000	0.75140	1.410000	0.46936	0.655000	0.94253	GAC		0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359	
UGT2B17	7367	hgsc.bcm.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs377546716		TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATAACTAATCCCTTTTCTTCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)												2	Substitution - coding silent(2)	lung(1)|endometrium(1)											82.0	79.0	80.0					4																	69403349		2114	4002	6116	SO:0001819	synonymous_variant	7367			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000317746.2	37	CCDS3523.1																																																																																				0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1		NM_001077	
UGT3A1	133688	hgsc.bcm.edu;ucsc.edu	37	5	35988576	35988576	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr5:35988576G>C	ENST00000274278.3	-	2	529	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q58E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.Q4E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	58						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCCACTCTGATGAAGCATA	0.343																																																	0													80.0	75.0	77.0					5																	35988576		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.172C>G	5.37:g.35988576G>C	ENSP00000274278:p.Gln58Glu	Somatic		WXS	SOLID	Phase_I	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047686	0.19827	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000333811	T;T;T	0.61392	0.11;0.11;0.98	3.21	-6.29	0.02013	.	0.453654	0.16591	U	0.207772	T	0.36799	0.0980	L	0.39245	1.2	0.09310	N	1	B;B;B	0.24882	0.034;0.113;0.098	B;B;B	0.29440	0.102;0.024;0.055	T	0.25984	-1.0116	10	0.66056	D	0.02	.	0.8538	0.01178	0.1826:0.2521:0.2938:0.2714	.	58;4;58	B7Z8Q8;G5E961;Q6NUS8	.;.;UD3A1_HUMAN	E	58;58;4	ENSP00000274278:Q58E;ENSP00000427079:Q58E;ENSP00000328033:Q4E	ENSP00000274278:Q58E	Q	-	1	0	UGT3A1	36024333	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.737000	0.01843	-1.754000	0.01321	-0.448000	0.05591	CAG		0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404	
UQCRC2	7385	hgsc.bcm.edu	37	16	21982911	21982911	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr16:21982911T>C	ENST00000268379.4	+	9	1500	c.736T>C	c.(736-738)Tta>Cta	p.L246L	UQCRC2_ENST00000561553.1_Silent_p.L246L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	246					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TGGGCTTGGTTTATCTGGTGC	0.428																																					Colon(123;450 1645 12841 25393 45623)												0													132.0	120.0	124.0					16																	21982911		2198	4300	6498	SO:0001819	synonymous_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.736T>C	16.37:g.21982911T>C		Somatic		WXS	SOLID	Phase_I	B3KSN4|Q9BQ05	Silent	SNP	ENST00000268379.4	37	CCDS10601.1																																																																																				0.428	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1		NM_003366	
YLPM1	56252	hgsc.bcm.edu	37	14	75266224	75266224	+	Silent	SNP	T	T	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr14:75266224T>A	ENST00000325680.7	+	5	4348	c.4224T>A	c.(4222-4224)tcT>tcA	p.S1408S	YLPM1_ENST00000238571.3_Silent_p.S1213S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1213					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGTACCCATCTGATGTGGATA	0.493																																																	0													235.0	219.0	224.0					14																	75266224		1961	4145	6106	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4224T>A	14.37:g.75266224T>A		Somatic		WXS	SOLID	Phase_I	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	CCDS45135.1																																																																																				0.493	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1		NM_019589	
ZKSCAN8	7745	hgsc.bcm.edu	37	6	28116332	28116332	+	Silent	SNP	G	G	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr6:28116332G>A	ENST00000330236.6	+	2	331	c.147G>A	c.(145-147)gtG>gtA	p.V49V	ZKSCAN8_ENST00000457389.2_Silent_p.V49V	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	49					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCAAGAAGTGTTCCGCCTGC	0.537																																																	0													136.0	116.0	123.0					6																	28116332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.147G>A	6.37:g.28116332G>A		Somatic		WXS	SOLID	Phase_I	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	CCDS4645.1																																																																																				0.537	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			
ZNF43	7594	hgsc.bcm.edu;ucsc.edu	37	19	21992281	21992281	+	Silent	SNP	A	A	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr19:21992281A>C	ENST00000354959.4	-	4	727	c.558T>G	c.(556-558)ctT>ctG	p.L186L	ZNF43_ENST00000595461.1_Silent_p.L180L|ZNF43_ENST00000598381.1_Silent_p.L180L|ZNF43_ENST00000594012.1_Silent_p.L180L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTAGATGTGGAAGCATGCAAA	0.313																																																	0													43.0	43.0	43.0					19																	21992281		2202	4298	6500	SO:0001819	synonymous_variant	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.558T>G	19.37:g.21992281A>C		Somatic		WXS	SOLID	Phase_I	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423	
ZNF598	90850	hgsc.bcm.edu	37	16	2050421	2050421	+	Silent	SNP	T	T	C			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr16:2050421T>C	ENST00000563630.1	-	8	1340	c.1098A>G	c.(1096-1098)ccA>ccG	p.P366P	ZNF598_ENST00000431526.1_Silent_p.P421P|ZNF598_ENST00000562103.1_Silent_p.P366P|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	421							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTGGGGCGGCTGGGCCTGTCA	0.647																																																	0													49.0	60.0	56.0					16																	2050421		1952	4130	6082	SO:0001819	synonymous_variant	90850			BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1098A>G	16.37:g.2050421T>C		Somatic		WXS	SOLID	Phase_I	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	ENST00000563630.1	37																																																																																					0.647	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1		NM_178167	
PTEN	5728	ucsc.edu	37	10	89685305	89685306	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-4843-01A-01D-1361-10	TCGA-B0-4843-11A-01D-1361-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	dab75789-3305-4d47-b00e-b3d101f5614e	4a57ef39-f6e4-46d0-8f85-610742d1c89e	g.chr10:89685305_89685306insA	ENST00000371953.3	+	3	1557_1558	c.200_201insA	c.(199-204)atatacfs	p.Y68fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> H (in CWS1 and BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9600246}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I67K(1)|p.I67T(1)|p.I67_Y68insY(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CATTACAAGATATACAATCTGT	0.277		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Missense(3)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(13)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|urinary_tract(2)|breast(2)|stomach(1)|soft_tissue(1)	GRCh37	CM981666	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.201dupA	10.37:g.89685306_89685306dupA	ENSP00000361021:p.Tyr68fs	Somatic		WXS	SOLID	.	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.277	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
